Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Hspg2'

344806

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, per, perlecan, Pcn

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137196080-137297941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137266886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1964 (T1964A)

Ref Sequence

ENSEMBL: ENSMUSP00000131316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030547] [ENSMUST00000171332]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030547
AA Change: T1964A

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: T1964A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	53	78	N/A	INTRINSIC
SEA	80	194	4.94e-18	SMART
LDLa	198	236	4.51e-12	SMART
low complexity region	253	267	N/A	INTRINSIC
LDLa	284	321	1.62e-13	SMART
LDLa	324	361	2.59e-12	SMART
LDLa	367	405	3.86e-11	SMART
IGc2	419	486	4.06e-13	SMART
LamB	590	717	7.45e-54	SMART
EGF_Lam	764	811	6.05e-14	SMART
EGF_Lam	814	869	3.82e-2	SMART
EGF_like	871	921	6.74e-1	SMART
low complexity region	934	939	N/A	INTRINSIC
LamB	985	1112	2.87e-55	SMART
Pfam:Laminin_EGF	1113	1156	7.5e-5	PFAM
EGF_Lam	1159	1206	1.1e-11	SMART
EGF_Lam	1209	1263	2.46e-5	SMART
EGF_Lam	1275	1322	4.96e-10	SMART
LamB	1391	1516	5.3e-59	SMART
EGF_like	1516	1560	3.36e0	SMART
EGF_Lam	1563	1610	2.66e-10	SMART
EGF_Lam	1613	1668	3.73e-5	SMART
IGc2	1688	1752	1.76e-8	SMART
IGc2	1783	1846	5.97e-11	SMART
IGc2	1877	1939	8.57e-12	SMART
IGc2	1967	2031	1.82e-15	SMART
IGc2	2056	2117	4.81e-15	SMART
IGc2	2157	2216	1.37e-10	SMART
IGc2	2251	2312	5.88e-10	SMART
low complexity region	2333	2344	N/A	INTRINSIC
IGc2	2347	2408	1.97e-11	SMART
IGc2	2441	2502	1.59e-15	SMART
low complexity region	2517	2528	N/A	INTRINSIC
IGc2	2538	2599	3.08e-13	SMART
IGc2	2634	2695	9.25e-17	SMART
low complexity region	2704	2728	N/A	INTRINSIC
IGc2	2731	2792	1.84e-11	SMART
IGc2	2828	2889	2.11e-11	SMART
IGc2	2926	2987	3.25e-12	SMART
IG	3017	3098	3.62e-10	SMART
IGc2	3114	3180	9.05e-11	SMART
IGc2	3212	3273	2.44e-16	SMART
IGc2	3299	3360	2.26e-11	SMART
IGc2	3400	3461	6.81e-6	SMART
IGc2	3489	3550	1.59e-15	SMART
IGc2	3575	3636	2.54e-14	SMART
LamG	3672	3813	3.41e-39	SMART
EGF	3832	3866	6.91e-9	SMART
EGF	3872	3907	4.46e-3	SMART
LamG	3934	4070	4.78e-43	SMART
EGF	4092	4126	1.17e-6	SMART
EGF	4131	4161	1.87e-5	SMART
LamG	4211	4348	1.33e-41	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171332
AA Change: T1964A

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: T1964A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	53	78	N/A	INTRINSIC
SEA	80	194	4.94e-18	SMART
LDLa	198	236	4.51e-12	SMART
low complexity region	253	267	N/A	INTRINSIC
LDLa	284	321	1.62e-13	SMART
LDLa	324	361	2.59e-12	SMART
LDLa	367	405	3.86e-11	SMART
IGc2	419	486	4.06e-13	SMART
LamB	590	717	7.45e-54	SMART
EGF_Lam	764	811	6.05e-14	SMART
EGF_Lam	814	869	3.82e-2	SMART
EGF_like	871	921	6.74e-1	SMART
low complexity region	934	939	N/A	INTRINSIC
LamB	985	1112	2.87e-55	SMART
Pfam:Laminin_EGF	1114	1156	7.9e-5	PFAM
EGF_Lam	1159	1206	1.1e-11	SMART
EGF_Lam	1209	1263	2.46e-5	SMART
EGF_Lam	1275	1322	4.96e-10	SMART
LamB	1391	1516	5.3e-59	SMART
EGF_like	1516	1560	3.36e0	SMART
EGF_Lam	1563	1610	2.66e-10	SMART
EGF_Lam	1613	1668	3.73e-5	SMART
IGc2	1688	1752	1.76e-8	SMART
IGc2	1783	1846	5.97e-11	SMART
IGc2	1877	1939	8.57e-12	SMART
IGc2	1967	2031	1.82e-15	SMART
IGc2	2062	2123	4.81e-15	SMART
IGc2	2163	2222	1.37e-10	SMART
IGc2	2257	2318	5.88e-10	SMART
low complexity region	2339	2350	N/A	INTRINSIC
IGc2	2353	2414	1.97e-11	SMART
IGc2	2447	2508	1.59e-15	SMART
low complexity region	2523	2534	N/A	INTRINSIC
IGc2	2544	2605	3.08e-13	SMART
IGc2	2640	2701	9.25e-17	SMART
low complexity region	2710	2734	N/A	INTRINSIC
IGc2	2737	2798	1.84e-11	SMART
IGc2	2836	2897	2.11e-11	SMART
IGc2	2934	2995	3.25e-12	SMART
IG	3025	3106	3.62e-10	SMART
IGc2	3122	3188	9.05e-11	SMART
IGc2	3220	3281	2.44e-16	SMART
IGc2	3307	3368	2.26e-11	SMART
IGc2	3408	3469	6.81e-6	SMART
IGc2	3497	3558	1.59e-15	SMART
IGc2	3583	3644	2.54e-14	SMART
LamG	3680	3821	3.41e-39	SMART
EGF	3840	3874	6.91e-9	SMART
EGF	3880	3915	4.46e-3	SMART
LamG	3942	4078	4.78e-43	SMART
EGF	4100	4134	1.17e-6	SMART
EGF	4139	4169	1.87e-5	SMART
LamG	4219	4356	1.33e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184284

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the perlecan protein, which consists of a core protein to which three long chains of glycosaminoglycans (heparan sulfate or chondroitin sulfate) are attached. The perlecan protein is a large multidomain proteoglycan that binds to and cross-links many extracellular matrix components and cell-surface molecules. It has been shown that this protein interacts with laminin, prolargin, collagen type IV, FGFBP1, FBLN2, FGF7 and transthyretin, etc., and it plays essential roles in multiple biological activities. Perlecan is a key component of the vascular extracellular matrix, where it helps to maintain the endothelial barrier function. It is a potent inhibitor of smooth muscle cell proliferation and is thus thought to help maintain vascular homeostasis. It can also promote growth factor (e.g., FGF2) activity and thus stimulate endothelial growth and re-generation. It is a major component of basement membranes, where it is involved in the stabilization of other molecules as well as being involved with glomerular permeability to macromolecules and cell adhesion. Mutations in this gene cause Schwartz-Jampel syndrome type 1, Silverman-Handmaker type of dyssegmental dysplasia, and tardive dyskinesia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Homozygous targeted null mutants die either at embryonic day 10.5 with cardiac outflow defects and/or brain exencephaly or at birth with skeletal dysplasia including micromelia and craniofacial defects. An exon 3 deletion mutant shows only a lens defect. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Akap12	A	G	10: 4,304,456 (GRCm39)	D422G	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	probably damaging	Het

Other mutations in Hspg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hspg2	APN	4	137,256,131 (GRCm39)	missense	probably damaging	1.00
IGL00339:Hspg2	APN	4	137,266,506 (GRCm39)	missense	probably damaging	1.00
IGL00943:Hspg2	APN	4	137,289,512 (GRCm39)	missense	probably benign	0.15
IGL00970:Hspg2	APN	4	137,269,901 (GRCm39)	missense	probably benign	0.09
IGL01011:Hspg2	APN	4	137,286,646 (GRCm39)	missense	probably damaging	1.00
IGL01148:Hspg2	APN	4	137,273,969 (GRCm39)	missense	probably benign	0.11
IGL01333:Hspg2	APN	4	137,267,625 (GRCm39)	missense	probably damaging	1.00
IGL01367:Hspg2	APN	4	137,265,800 (GRCm39)	missense	probably damaging	1.00
IGL01455:Hspg2	APN	4	137,281,128 (GRCm39)	missense	probably damaging	1.00
IGL01540:Hspg2	APN	4	137,247,017 (GRCm39)	missense	probably damaging	1.00
IGL01578:Hspg2	APN	4	137,266,494 (GRCm39)	missense	probably damaging	1.00
IGL01603:Hspg2	APN	4	137,280,114 (GRCm39)	missense	probably damaging	1.00
IGL01632:Hspg2	APN	4	137,242,084 (GRCm39)	missense	probably damaging	1.00
IGL01658:Hspg2	APN	4	137,292,237 (GRCm39)	missense	probably damaging	1.00
IGL01760:Hspg2	APN	4	137,239,982 (GRCm39)	missense	possibly damaging	0.60
IGL01976:Hspg2	APN	4	137,289,237 (GRCm39)	missense	probably damaging	1.00
IGL02024:Hspg2	APN	4	137,267,384 (GRCm39)	missense	probably damaging	1.00
IGL02033:Hspg2	APN	4	137,279,565 (GRCm39)	missense	probably benign
IGL02051:Hspg2	APN	4	137,295,700 (GRCm39)	unclassified	probably benign
IGL02124:Hspg2	APN	4	137,246,125 (GRCm39)	splice site	probably null
IGL02128:Hspg2	APN	4	137,291,327 (GRCm39)	missense	probably damaging	1.00
IGL02177:Hspg2	APN	4	137,242,627 (GRCm39)	missense	probably damaging	1.00
IGL02230:Hspg2	APN	4	137,245,956 (GRCm39)	missense	probably damaging	1.00
IGL02266:Hspg2	APN	4	137,237,888 (GRCm39)	missense	probably damaging	1.00
IGL02313:Hspg2	APN	4	137,235,700 (GRCm39)	missense	probably benign	0.03
IGL02477:Hspg2	APN	4	137,271,823 (GRCm39)	splice site	probably benign
IGL02514:Hspg2	APN	4	137,296,887 (GRCm39)	missense	probably benign	0.09
IGL02613:Hspg2	APN	4	137,271,731 (GRCm39)	missense	probably damaging	1.00
IGL02625:Hspg2	APN	4	137,239,953 (GRCm39)	missense	probably damaging	1.00
IGL02646:Hspg2	APN	4	137,279,159 (GRCm39)	missense	possibly damaging	0.60
IGL02651:Hspg2	APN	4	137,284,756 (GRCm39)	splice site	probably benign
IGL02701:Hspg2	APN	4	137,284,485 (GRCm39)	missense	probably damaging	0.96
IGL02833:Hspg2	APN	4	137,282,441 (GRCm39)	missense	probably benign	0.00
IGL02985:Hspg2	APN	4	137,235,114 (GRCm39)	missense	probably damaging	1.00
IGL03040:Hspg2	APN	4	137,289,136 (GRCm39)	critical splice donor site	probably null
IGL03181:Hspg2	APN	4	137,243,248 (GRCm39)	missense	probably damaging	1.00
IGL03349:Hspg2	APN	4	137,287,833 (GRCm39)	splice site	probably benign
G1patch:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
PIT4305001:Hspg2	UTSW	4	137,277,684 (GRCm39)	missense	possibly damaging	0.55
R0006:Hspg2	UTSW	4	137,247,242 (GRCm39)	missense	probably damaging	1.00
R0036:Hspg2	UTSW	4	137,270,160 (GRCm39)	missense	probably damaging	1.00
R0109:Hspg2	UTSW	4	137,289,512 (GRCm39)	missense	probably benign	0.15
R0131:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0131:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0132:Hspg2	UTSW	4	137,279,198 (GRCm39)	missense	probably damaging	1.00
R0245:Hspg2	UTSW	4	137,242,033 (GRCm39)	missense	probably damaging	1.00
R0388:Hspg2	UTSW	4	137,238,469 (GRCm39)	missense	probably damaging	1.00
R0389:Hspg2	UTSW	4	137,242,734 (GRCm39)	missense	possibly damaging	0.53
R0468:Hspg2	UTSW	4	137,260,840 (GRCm39)	missense	probably damaging	1.00
R0480:Hspg2	UTSW	4	137,277,335 (GRCm39)	missense	probably damaging	1.00
R0546:Hspg2	UTSW	4	137,229,605 (GRCm39)	missense	probably benign
R0599:Hspg2	UTSW	4	137,239,712 (GRCm39)	missense	probably damaging	0.98
R0652:Hspg2	UTSW	4	137,242,033 (GRCm39)	missense	probably damaging	1.00
R0671:Hspg2	UTSW	4	137,280,591 (GRCm39)	missense	probably damaging	1.00
R0760:Hspg2	UTSW	4	137,239,660 (GRCm39)	missense	probably damaging	1.00
R0883:Hspg2	UTSW	4	137,268,751 (GRCm39)	missense	probably benign	0.00
R1403:Hspg2	UTSW	4	137,267,411 (GRCm39)	missense	possibly damaging	0.90
R1417:Hspg2	UTSW	4	137,244,947 (GRCm39)	missense	probably benign
R1497:Hspg2	UTSW	4	137,275,407 (GRCm39)	missense	probably damaging	0.98
R1509:Hspg2	UTSW	4	137,238,552 (GRCm39)	splice site	probably benign
R1625:Hspg2	UTSW	4	137,246,282 (GRCm39)	missense	probably benign	0.23
R1630:Hspg2	UTSW	4	137,245,746 (GRCm39)	missense	probably damaging	1.00
R1651:Hspg2	UTSW	4	137,260,748 (GRCm39)	nonsense	probably null
R1699:Hspg2	UTSW	4	137,275,323 (GRCm39)	splice site	probably null
R1703:Hspg2	UTSW	4	137,286,462 (GRCm39)	missense	probably damaging	1.00
R1761:Hspg2	UTSW	4	137,241,984 (GRCm39)	missense	possibly damaging	0.90
R1775:Hspg2	UTSW	4	137,247,467 (GRCm39)	missense	probably damaging	0.99
R1779:Hspg2	UTSW	4	137,245,820 (GRCm39)	missense	probably damaging	1.00
R1843:Hspg2	UTSW	4	137,272,878 (GRCm39)	missense	probably damaging	1.00
R1891:Hspg2	UTSW	4	137,292,801 (GRCm39)	missense	probably damaging	1.00
R1930:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R1931:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R1942:Hspg2	UTSW	4	137,269,863 (GRCm39)	missense	possibly damaging	0.67
R1959:Hspg2	UTSW	4	137,292,206 (GRCm39)	missense	probably damaging	1.00
R2042:Hspg2	UTSW	4	137,295,677 (GRCm39)	missense	probably damaging	1.00
R2062:Hspg2	UTSW	4	137,286,678 (GRCm39)	missense	possibly damaging	0.79
R2098:Hspg2	UTSW	4	137,247,420 (GRCm39)	missense	probably damaging	1.00
R2158:Hspg2	UTSW	4	137,244,915 (GRCm39)	missense	probably damaging	1.00
R2280:Hspg2	UTSW	4	137,249,354 (GRCm39)	missense	probably damaging	1.00
R2890:Hspg2	UTSW	4	137,276,885 (GRCm39)	missense	probably damaging	1.00
R2927:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R3428:Hspg2	UTSW	4	137,282,601 (GRCm39)	missense	probably damaging	1.00
R3744:Hspg2	UTSW	4	137,292,815 (GRCm39)	splice site	probably benign
R3873:Hspg2	UTSW	4	137,266,660 (GRCm39)	missense	probably damaging	1.00
R3874:Hspg2	UTSW	4	137,266,660 (GRCm39)	missense	probably damaging	1.00
R3917:Hspg2	UTSW	4	137,286,625 (GRCm39)	missense	probably damaging	1.00
R3932:Hspg2	UTSW	4	137,242,879 (GRCm39)	missense	probably damaging	0.99
R3933:Hspg2	UTSW	4	137,242,879 (GRCm39)	missense	probably damaging	0.99
R4134:Hspg2	UTSW	4	137,283,968 (GRCm39)	missense	probably damaging	0.99
R4272:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4273:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4274:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4275:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4288:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4289:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4354:Hspg2	UTSW	4	137,196,222 (GRCm39)	missense	probably benign	0.17
R4355:Hspg2	UTSW	4	137,256,729 (GRCm39)	missense	probably damaging	0.98
R4400:Hspg2	UTSW	4	137,275,433 (GRCm39)	missense	probably benign	0.01
R4411:Hspg2	UTSW	4	137,289,535 (GRCm39)	missense	probably benign
R4421:Hspg2	UTSW	4	137,275,433 (GRCm39)	missense	probably benign	0.01
R4592:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4612:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4619:Hspg2	UTSW	4	137,273,884 (GRCm39)	missense	probably damaging	1.00
R4658:Hspg2	UTSW	4	137,261,041 (GRCm39)	missense	probably damaging	1.00
R4667:Hspg2	UTSW	4	137,266,956 (GRCm39)	missense	possibly damaging	0.90
R4724:Hspg2	UTSW	4	137,249,438 (GRCm39)	missense	probably damaging	0.96
R4739:Hspg2	UTSW	4	137,297,384 (GRCm39)	unclassified	probably benign
R4793:Hspg2	UTSW	4	137,256,784 (GRCm39)	missense	possibly damaging	0.95
R4826:Hspg2	UTSW	4	137,292,706 (GRCm39)	missense	probably damaging	1.00
R4838:Hspg2	UTSW	4	137,268,977 (GRCm39)	missense	possibly damaging	0.53
R4896:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R4926:Hspg2	UTSW	4	137,269,841 (GRCm39)	missense	probably damaging	1.00
R4939:Hspg2	UTSW	4	137,235,342 (GRCm39)	missense	probably damaging	1.00
R5032:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R5033:Hspg2	UTSW	4	137,246,251 (GRCm39)	missense	probably damaging	1.00
R5071:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R5072:Hspg2	UTSW	4	137,267,541 (GRCm39)	missense	probably damaging	1.00
R5114:Hspg2	UTSW	4	137,239,237 (GRCm39)	missense	probably damaging	1.00
R5177:Hspg2	UTSW	4	137,246,083 (GRCm39)	missense	probably damaging	1.00
R5223:Hspg2	UTSW	4	137,271,225 (GRCm39)	missense	probably damaging	1.00
R5433:Hspg2	UTSW	4	137,256,105 (GRCm39)	splice site	probably null
R5529:Hspg2	UTSW	4	137,279,139 (GRCm39)	missense	probably damaging	1.00
R5541:Hspg2	UTSW	4	137,270,136 (GRCm39)	missense	probably benign	0.17
R5541:Hspg2	UTSW	4	137,247,862 (GRCm39)	missense	probably damaging	1.00
R5546:Hspg2	UTSW	4	137,275,485 (GRCm39)	critical splice donor site	probably null
R5728:Hspg2	UTSW	4	137,270,077 (GRCm39)	missense	possibly damaging	0.95
R5764:Hspg2	UTSW	4	137,289,032 (GRCm39)	missense	probably damaging	1.00
R5920:Hspg2	UTSW	4	137,281,093 (GRCm39)	missense	probably damaging	1.00
R5934:Hspg2	UTSW	4	137,246,083 (GRCm39)	missense	probably damaging	1.00
R6074:Hspg2	UTSW	4	137,268,046 (GRCm39)	missense	probably benign
R6164:Hspg2	UTSW	4	137,241,966 (GRCm39)	missense	possibly damaging	0.89
R6175:Hspg2	UTSW	4	137,296,829 (GRCm39)	missense	probably damaging	1.00
R6217:Hspg2	UTSW	4	137,267,559 (GRCm39)	missense	probably damaging	0.99
R6262:Hspg2	UTSW	4	137,246,997 (GRCm39)	missense	probably damaging	1.00
R6299:Hspg2	UTSW	4	137,272,016 (GRCm39)	missense	probably damaging	1.00
R6333:Hspg2	UTSW	4	137,289,266 (GRCm39)	missense	probably damaging	1.00
R6371:Hspg2	UTSW	4	137,269,006 (GRCm39)	missense	probably damaging	1.00
R6430:Hspg2	UTSW	4	137,266,707 (GRCm39)	missense	probably damaging	1.00
R6498:Hspg2	UTSW	4	137,235,112 (GRCm39)	missense	possibly damaging	0.46
R6522:Hspg2	UTSW	4	137,282,586 (GRCm39)	missense	probably damaging	1.00
R6680:Hspg2	UTSW	4	137,293,048 (GRCm39)	missense	probably benign	0.18
R6724:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6725:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6762:Hspg2	UTSW	4	137,279,114 (GRCm39)	missense	possibly damaging	0.83
R6785:Hspg2	UTSW	4	137,235,709 (GRCm39)	missense	probably damaging	0.99
R6788:Hspg2	UTSW	4	137,242,618 (GRCm39)	missense	probably damaging	1.00
R6931:Hspg2	UTSW	4	137,268,031 (GRCm39)	missense	probably damaging	1.00
R6959:Hspg2	UTSW	4	137,246,600 (GRCm39)	missense	probably benign	0.45
R6968:Hspg2	UTSW	4	137,262,467 (GRCm39)	missense	probably damaging	1.00
R6988:Hspg2	UTSW	4	137,256,201 (GRCm39)	missense	probably damaging	1.00
R7021:Hspg2	UTSW	4	137,269,580 (GRCm39)	missense	possibly damaging	0.69
R7089:Hspg2	UTSW	4	137,271,677 (GRCm39)	missense	possibly damaging	0.51
R7107:Hspg2	UTSW	4	137,237,963 (GRCm39)	missense	probably damaging	1.00
R7141:Hspg2	UTSW	4	137,279,427 (GRCm39)	missense	probably damaging	1.00
R7161:Hspg2	UTSW	4	137,242,030 (GRCm39)	missense	probably damaging	1.00
R7189:Hspg2	UTSW	4	137,260,872 (GRCm39)	critical splice donor site	probably null
R7238:Hspg2	UTSW	4	137,235,704 (GRCm39)	missense	probably damaging	1.00
R7253:Hspg2	UTSW	4	137,247,257 (GRCm39)	missense	probably benign	0.15
R7278:Hspg2	UTSW	4	137,278,436 (GRCm39)	missense	probably damaging	0.98
R7287:Hspg2	UTSW	4	137,256,867 (GRCm39)	missense	probably benign	0.00
R7390:Hspg2	UTSW	4	137,266,490 (GRCm39)	missense	probably damaging	1.00
R7436:Hspg2	UTSW	4	137,242,975 (GRCm39)	missense	probably damaging	0.99
R7479:Hspg2	UTSW	4	137,266,714 (GRCm39)	missense	probably benign	0.17
R7516:Hspg2	UTSW	4	137,269,931 (GRCm39)	missense	possibly damaging	0.94
R7540:Hspg2	UTSW	4	137,268,751 (GRCm39)	missense	possibly damaging	0.51
R7603:Hspg2	UTSW	4	137,284,503 (GRCm39)	missense	possibly damaging	0.91
R7603:Hspg2	UTSW	4	137,275,679 (GRCm39)	missense	probably damaging	1.00
R7625:Hspg2	UTSW	4	137,292,249 (GRCm39)	missense	probably damaging	1.00
R7696:Hspg2	UTSW	4	137,239,277 (GRCm39)	missense	possibly damaging	0.78
R7767:Hspg2	UTSW	4	137,239,177 (GRCm39)	missense	probably damaging	1.00
R7815:Hspg2	UTSW	4	137,239,775 (GRCm39)	missense	probably damaging	1.00
R7825:Hspg2	UTSW	4	137,286,160 (GRCm39)	missense	probably damaging	1.00
R7863:Hspg2	UTSW	4	137,292,135 (GRCm39)	missense	probably benign	0.03
R7885:Hspg2	UTSW	4	137,244,148 (GRCm39)	missense	probably damaging	1.00
R7899:Hspg2	UTSW	4	137,275,427 (GRCm39)	missense	possibly damaging	0.72
R7937:Hspg2	UTSW	4	137,278,243 (GRCm39)	missense	probably benign	0.01
R7975:Hspg2	UTSW	4	137,282,532 (GRCm39)	missense	probably benign	0.26
R8078:Hspg2	UTSW	4	137,235,333 (GRCm39)	missense	probably damaging	1.00
R8285:Hspg2	UTSW	4	137,239,974 (GRCm39)	missense	probably benign	0.18
R8314:Hspg2	UTSW	4	137,266,986 (GRCm39)	missense	probably benign	0.12
R8322:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8323:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8324:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8341:Hspg2	UTSW	4	137,246,290 (GRCm39)	missense	possibly damaging	0.88
R8383:Hspg2	UTSW	4	137,271,681 (GRCm39)	missense	possibly damaging	0.66
R8425:Hspg2	UTSW	4	137,278,178 (GRCm39)	nonsense	probably null
R8491:Hspg2	UTSW	4	137,281,030 (GRCm39)	missense	probably benign	0.00
R8525:Hspg2	UTSW	4	137,266,759 (GRCm39)	missense	probably damaging	0.98
R8978:Hspg2	UTSW	4	137,291,341 (GRCm39)	missense	probably benign	0.09
R9152:Hspg2	UTSW	4	137,249,876 (GRCm39)	missense	possibly damaging	0.89
R9166:Hspg2	UTSW	4	137,270,185 (GRCm39)	missense	probably damaging	1.00
R9175:Hspg2	UTSW	4	137,256,657 (GRCm39)	missense	probably damaging	0.98
R9210:Hspg2	UTSW	4	137,289,790 (GRCm39)	missense	probably benign	0.05
R9221:Hspg2	UTSW	4	137,287,726 (GRCm39)	missense	possibly damaging	0.79
R9325:Hspg2	UTSW	4	137,265,552 (GRCm39)	missense	probably damaging	1.00
R9339:Hspg2	UTSW	4	137,278,480 (GRCm39)	missense	probably benign
R9340:Hspg2	UTSW	4	137,296,827 (GRCm39)	missense	probably damaging	1.00
R9358:Hspg2	UTSW	4	137,244,909 (GRCm39)	missense	probably damaging	1.00
R9451:Hspg2	UTSW	4	137,238,380 (GRCm39)	missense	probably damaging	1.00
R9534:Hspg2	UTSW	4	137,268,072 (GRCm39)	missense	probably benign
R9656:Hspg2	UTSW	4	137,279,196 (GRCm39)	missense	probably benign
R9664:Hspg2	UTSW	4	137,266,887 (GRCm39)	missense	probably benign	0.03
R9695:Hspg2	UTSW	4	137,265,701 (GRCm39)	missense	probably damaging	1.00
R9741:Hspg2	UTSW	4	137,239,962 (GRCm39)	missense	probably damaging	1.00
V5622:Hspg2	UTSW	4	137,261,049 (GRCm39)	missense	probably damaging	0.99
V5622:Hspg2	UTSW	4	137,261,049 (GRCm39)	missense	probably damaging	0.99
X0028:Hspg2	UTSW	4	137,277,702 (GRCm39)	missense	probably benign
Z1177:Hspg2	UTSW	4	137,295,684 (GRCm39)	missense	possibly damaging	0.64
Z1177:Hspg2	UTSW	4	137,291,829 (GRCm39)	missense	probably damaging	0.99
Z1177:Hspg2	UTSW	4	137,277,778 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTGAACCCTCGGATCAGGG -3'
(R):5'- TGAGTAGGAGGTTCAGTGAGCC -3'

Sequencing Primer
(F):5'- TCGGATCAGGGCCAGTAC -3'
(R):5'- TCAGTGAGCCCGGGGTTG -3'

Posted On

2015-09-25