Mutagenetix > Incidental Mutation

Incidental Mutation 'R2280:Hspg2'

243026

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, Pcn, per

MMRRC Submission

040279-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2280 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137468769-137570630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137522043 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1300 (E1300G)

Ref Sequence

ENSEMBL: ENSMUSP00000030547 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030547
AA Change: E1300G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: E1300G

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

probably damaging
Transcript: ENSMUST00000171332
AA Change: E1300G

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: E1300G

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,677,973 (GRCm38)	N2698S	probably damaging	Het
Ankrd37	T	C	8: 45,999,376 (GRCm38)	T19A	probably benign	Het
Anks1b	A	C	10: 90,966,302 (GRCm38)	K353N	probably damaging	Het
Ano3	T	A	2: 110,682,759 (GRCm38)	E630D	probably benign	Het
Ap3b1	A	G	13: 94,528,216 (GRCm38)	M888V	unknown	Het
Apoh	T	A	11: 108,409,180 (GRCm38)	Y218*	probably null	Het
Arhgef19	G	A	4: 141,246,516 (GRCm38)	G105S	probably benign	Het
Brd7	A	G	8: 88,342,757 (GRCm38)	S437P	probably benign	Het
Cacna2d4	A	T	6: 119,350,041 (GRCm38)	Q1089L	possibly damaging	Het
Ccser1	A	T	6: 61,570,815 (GRCm38)	M49L	probably damaging	Het
Cep170	A	T	1: 176,774,505 (GRCm38)	V345E	probably benign	Het
Chaf1b	T	G	16: 93,891,571 (GRCm38)	Y185D	probably damaging	Het
Clasp1	C	T	1: 118,565,183 (GRCm38)	P1153S	probably benign	Het
Clvs2	A	T	10: 33,528,500 (GRCm38)	I240N	probably damaging	Het
Cox8c	A	T	12: 102,899,454 (GRCm38)	H30L	possibly damaging	Het
Crtac1	G	A	19: 42,283,567 (GRCm38)	L646F	unknown	Het
Cyp46a1	T	C	12: 108,355,471 (GRCm38)	S319P	probably damaging	Het
Dcdc5	G	A	2: 106,372,522 (GRCm38)		noncoding transcript	Het
Ddx4	T	C	13: 112,620,656 (GRCm38)	I377V	probably benign	Het
Dis3l	T	A	9: 64,317,794 (GRCm38)	N407I	possibly damaging	Het
Dysf	A	C	6: 84,064,494 (GRCm38)	T161P	probably damaging	Het
Ecsit	C	T	9: 22,076,540 (GRCm38)	V68I	possibly damaging	Het
Ei24	A	G	9: 36,782,339 (GRCm38)		probably null	Het
Fbxl19	A	T	7: 127,748,368 (GRCm38)	D32V	possibly damaging	Het
Fgd5	G	A	6: 91,988,945 (GRCm38)	V562M	possibly damaging	Het
Flnc	G	A	6: 29,438,666 (GRCm38)	W186*	probably null	Het
Frem2	A	G	3: 53,572,423 (GRCm38)	C1950R	probably damaging	Het
Fryl	T	C	5: 73,041,364 (GRCm38)	D2640G	possibly damaging	Het
Ganab	T	C	19: 8,909,468 (GRCm38)	V306A	probably damaging	Het
Gbx2	A	T	1: 89,930,637 (GRCm38)	V40D	probably damaging	Het
Gcc2	C	A	10: 58,269,680 (GRCm38)	T210K	probably benign	Het
Gcn1l1	T	A	5: 115,612,730 (GRCm38)	M1991K	probably damaging	Het
Gm6768	A	G	12: 119,262,838 (GRCm38)		noncoding transcript	Het
Gm8251	T	A	1: 44,056,460 (GRCm38)	H1826L	possibly damaging	Het
Gpr18	T	A	14: 121,912,605 (GRCm38)	T3S	probably benign	Het
Herc2	A	C	7: 56,137,271 (GRCm38)	K1621N	possibly damaging	Het
Krtap19-5	C	T	16: 88,896,343 (GRCm38)	C27Y	unknown	Het
Lrrc3b	A	T	14: 15,358,076 (GRCm38)	L177M	probably damaging	Het
Mthfd1	T	C	12: 76,280,492 (GRCm38)	I118T	probably benign	Het
Nphp4	A	G	4: 152,557,043 (GRCm38)	K1094E	possibly damaging	Het
Npy1r	C	T	8: 66,704,059 (GRCm38)	L44F	possibly damaging	Het
Olfr433	C	A	1: 174,042,521 (GRCm38)	S190R	probably benign	Het
Pcx	C	A	19: 4,604,543 (GRCm38)	R328S	probably damaging	Het
Pde6a	T	C	18: 61,262,434 (GRCm38)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,378,947 (GRCm38)	Y209F	probably damaging	Het
Plch2	A	T	4: 154,984,309 (GRCm38)	S1182T	probably damaging	Het
Pum1	A	T	4: 130,766,011 (GRCm38)	I696F	probably damaging	Het
Pxdn	T	C	12: 29,984,906 (GRCm38)	V254A	probably damaging	Het
Rcsd1	C	T	1: 165,659,429 (GRCm38)	A72T	probably benign	Het
Rsph4a	A	T	10: 33,911,599 (GRCm38)	I584L	probably benign	Het
Scamp5	A	G	9: 57,445,439 (GRCm38)	V149A	probably benign	Het
Sike1	A	G	3: 102,997,378 (GRCm38)	H134R	possibly damaging	Het
Slc12a9	A	G	5: 137,332,212 (GRCm38)	L77P	probably damaging	Het
Taar7f	G	A	10: 24,049,519 (GRCm38)	A4T	probably benign	Het
Thegl	T	C	5: 77,059,367 (GRCm38)	I324T	probably damaging	Het
Tmem216	T	A	19: 10,551,873 (GRCm38)	T104S	probably damaging	Het
Tpsg1	C	T	17: 25,374,042 (GRCm38)	R94C	probably damaging	Het
Utp20	A	T	10: 88,825,503 (GRCm38)		probably null	Het
Wdr35	A	G	12: 8,978,628 (GRCm38)	Q82R	probably benign	Het
Zfp12	A	G	5: 143,245,493 (GRCm38)	Y525C	probably damaging	Het
Zfp532	T	C	18: 65,624,712 (GRCm38)	V572A	probably damaging	Het
Zfyve26	T	A	12: 79,275,040 (GRCm38)	Q935L	probably damaging	Het

Other mutations in Hspg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Hspg2	APN	4	137,528,820 (GRCm38)	missense	probably damaging	1.00
IGL00339:Hspg2	APN	4	137,539,195 (GRCm38)	missense	probably damaging	1.00
IGL00943:Hspg2	APN	4	137,562,201 (GRCm38)	missense	probably benign	0.15
IGL00970:Hspg2	APN	4	137,542,590 (GRCm38)	missense	probably benign	0.09
IGL01011:Hspg2	APN	4	137,559,335 (GRCm38)	missense	probably damaging	1.00
IGL01148:Hspg2	APN	4	137,546,658 (GRCm38)	missense	probably benign	0.11
IGL01333:Hspg2	APN	4	137,540,314 (GRCm38)	missense	probably damaging	1.00
IGL01367:Hspg2	APN	4	137,538,489 (GRCm38)	missense	probably damaging	1.00
IGL01455:Hspg2	APN	4	137,553,817 (GRCm38)	missense	probably damaging	1.00
IGL01540:Hspg2	APN	4	137,519,706 (GRCm38)	missense	probably damaging	1.00
IGL01578:Hspg2	APN	4	137,539,183 (GRCm38)	missense	probably damaging	1.00
IGL01603:Hspg2	APN	4	137,552,803 (GRCm38)	missense	probably damaging	1.00
IGL01632:Hspg2	APN	4	137,514,773 (GRCm38)	missense	probably damaging	1.00
IGL01658:Hspg2	APN	4	137,564,926 (GRCm38)	missense	probably damaging	1.00
IGL01760:Hspg2	APN	4	137,512,671 (GRCm38)	missense	possibly damaging	0.60
IGL01976:Hspg2	APN	4	137,561,926 (GRCm38)	missense	probably damaging	1.00
IGL02024:Hspg2	APN	4	137,540,073 (GRCm38)	missense	probably damaging	1.00
IGL02033:Hspg2	APN	4	137,552,254 (GRCm38)	missense	probably benign
IGL02051:Hspg2	APN	4	137,568,389 (GRCm38)	unclassified	probably benign
IGL02124:Hspg2	APN	4	137,518,814 (GRCm38)	splice site	probably null
IGL02128:Hspg2	APN	4	137,564,016 (GRCm38)	missense	probably damaging	1.00
IGL02177:Hspg2	APN	4	137,515,316 (GRCm38)	missense	probably damaging	1.00
IGL02230:Hspg2	APN	4	137,518,645 (GRCm38)	missense	probably damaging	1.00
IGL02266:Hspg2	APN	4	137,510,577 (GRCm38)	missense	probably damaging	1.00
IGL02313:Hspg2	APN	4	137,508,389 (GRCm38)	missense	probably benign	0.03
IGL02477:Hspg2	APN	4	137,544,512 (GRCm38)	splice site	probably benign
IGL02514:Hspg2	APN	4	137,569,576 (GRCm38)	missense	probably benign	0.09
IGL02613:Hspg2	APN	4	137,544,420 (GRCm38)	missense	probably damaging	1.00
IGL02625:Hspg2	APN	4	137,512,642 (GRCm38)	missense	probably damaging	1.00
IGL02646:Hspg2	APN	4	137,551,848 (GRCm38)	missense	possibly damaging	0.60
IGL02651:Hspg2	APN	4	137,557,445 (GRCm38)	splice site	probably benign
IGL02701:Hspg2	APN	4	137,557,174 (GRCm38)	missense	probably damaging	0.96
IGL02833:Hspg2	APN	4	137,555,130 (GRCm38)	missense	probably benign	0.00
IGL02985:Hspg2	APN	4	137,507,803 (GRCm38)	missense	probably damaging	1.00
IGL03040:Hspg2	APN	4	137,561,825 (GRCm38)	critical splice donor site	probably null
IGL03181:Hspg2	APN	4	137,515,937 (GRCm38)	missense	probably damaging	1.00
IGL03349:Hspg2	APN	4	137,560,522 (GRCm38)	splice site	probably benign
G1patch:Hspg2	UTSW	4	137,515,307 (GRCm38)	missense	probably damaging	1.00
PIT4305001:Hspg2	UTSW	4	137,550,373 (GRCm38)	missense	possibly damaging	0.55
R0006:Hspg2	UTSW	4	137,519,931 (GRCm38)	missense	probably damaging	1.00
R0036:Hspg2	UTSW	4	137,542,849 (GRCm38)	missense	probably damaging	1.00
R0109:Hspg2	UTSW	4	137,562,201 (GRCm38)	missense	probably benign	0.15
R0131:Hspg2	UTSW	4	137,551,887 (GRCm38)	missense	probably damaging	1.00
R0131:Hspg2	UTSW	4	137,551,887 (GRCm38)	missense	probably damaging	1.00
R0132:Hspg2	UTSW	4	137,551,887 (GRCm38)	missense	probably damaging	1.00
R0245:Hspg2	UTSW	4	137,514,722 (GRCm38)	missense	probably damaging	1.00
R0388:Hspg2	UTSW	4	137,511,158 (GRCm38)	missense	probably damaging	1.00
R0389:Hspg2	UTSW	4	137,515,423 (GRCm38)	missense	possibly damaging	0.53
R0468:Hspg2	UTSW	4	137,533,529 (GRCm38)	missense	probably damaging	1.00
R0480:Hspg2	UTSW	4	137,550,024 (GRCm38)	missense	probably damaging	1.00
R0546:Hspg2	UTSW	4	137,502,294 (GRCm38)	missense	probably benign
R0599:Hspg2	UTSW	4	137,512,401 (GRCm38)	missense	probably damaging	0.98
R0652:Hspg2	UTSW	4	137,514,722 (GRCm38)	missense	probably damaging	1.00
R0671:Hspg2	UTSW	4	137,553,280 (GRCm38)	missense	probably damaging	1.00
R0760:Hspg2	UTSW	4	137,512,349 (GRCm38)	missense	probably damaging	1.00
R0883:Hspg2	UTSW	4	137,541,440 (GRCm38)	missense	probably benign	0.00
R1403:Hspg2	UTSW	4	137,540,100 (GRCm38)	missense	possibly damaging	0.90
R1417:Hspg2	UTSW	4	137,517,636 (GRCm38)	missense	probably benign
R1497:Hspg2	UTSW	4	137,548,096 (GRCm38)	missense	probably damaging	0.98
R1509:Hspg2	UTSW	4	137,511,241 (GRCm38)	splice site	probably benign
R1625:Hspg2	UTSW	4	137,518,971 (GRCm38)	missense	probably benign	0.23
R1630:Hspg2	UTSW	4	137,518,435 (GRCm38)	missense	probably damaging	1.00
R1651:Hspg2	UTSW	4	137,533,437 (GRCm38)	nonsense	probably null
R1699:Hspg2	UTSW	4	137,548,012 (GRCm38)	splice site	probably null
R1703:Hspg2	UTSW	4	137,559,151 (GRCm38)	missense	probably damaging	1.00
R1761:Hspg2	UTSW	4	137,514,673 (GRCm38)	missense	possibly damaging	0.90
R1775:Hspg2	UTSW	4	137,520,156 (GRCm38)	missense	probably damaging	0.99
R1779:Hspg2	UTSW	4	137,518,509 (GRCm38)	missense	probably damaging	1.00
R1843:Hspg2	UTSW	4	137,545,567 (GRCm38)	missense	probably damaging	1.00
R1891:Hspg2	UTSW	4	137,565,490 (GRCm38)	missense	probably damaging	1.00
R1930:Hspg2	UTSW	4	137,540,230 (GRCm38)	missense	probably damaging	1.00
R1931:Hspg2	UTSW	4	137,540,230 (GRCm38)	missense	probably damaging	1.00
R1942:Hspg2	UTSW	4	137,542,552 (GRCm38)	missense	possibly damaging	0.67
R1959:Hspg2	UTSW	4	137,564,895 (GRCm38)	missense	probably damaging	1.00
R2042:Hspg2	UTSW	4	137,568,366 (GRCm38)	missense	probably damaging	1.00
R2062:Hspg2	UTSW	4	137,559,367 (GRCm38)	missense	possibly damaging	0.79
R2098:Hspg2	UTSW	4	137,520,109 (GRCm38)	missense	probably damaging	1.00
R2158:Hspg2	UTSW	4	137,517,604 (GRCm38)	missense	probably damaging	1.00
R2890:Hspg2	UTSW	4	137,549,574 (GRCm38)	missense	probably damaging	1.00
R2927:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R3428:Hspg2	UTSW	4	137,555,290 (GRCm38)	missense	probably damaging	1.00
R3744:Hspg2	UTSW	4	137,565,504 (GRCm38)	splice site	probably benign
R3873:Hspg2	UTSW	4	137,539,349 (GRCm38)	missense	probably damaging	1.00
R3874:Hspg2	UTSW	4	137,539,349 (GRCm38)	missense	probably damaging	1.00
R3917:Hspg2	UTSW	4	137,559,314 (GRCm38)	missense	probably damaging	1.00
R3932:Hspg2	UTSW	4	137,515,568 (GRCm38)	missense	probably damaging	0.99
R3933:Hspg2	UTSW	4	137,515,568 (GRCm38)	missense	probably damaging	0.99
R4134:Hspg2	UTSW	4	137,556,657 (GRCm38)	missense	probably damaging	0.99
R4272:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4273:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4274:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4275:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4288:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4289:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4354:Hspg2	UTSW	4	137,468,911 (GRCm38)	missense	probably benign	0.17
R4355:Hspg2	UTSW	4	137,529,418 (GRCm38)	missense	probably damaging	0.98
R4400:Hspg2	UTSW	4	137,548,122 (GRCm38)	missense	probably benign	0.01
R4411:Hspg2	UTSW	4	137,562,224 (GRCm38)	missense	probably benign
R4421:Hspg2	UTSW	4	137,548,122 (GRCm38)	missense	probably benign	0.01
R4592:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4612:Hspg2	UTSW	4	137,539,575 (GRCm38)	missense	possibly damaging	0.80
R4612:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4619:Hspg2	UTSW	4	137,546,573 (GRCm38)	missense	probably damaging	1.00
R4658:Hspg2	UTSW	4	137,533,730 (GRCm38)	missense	probably damaging	1.00
R4667:Hspg2	UTSW	4	137,539,645 (GRCm38)	missense	possibly damaging	0.90
R4724:Hspg2	UTSW	4	137,522,127 (GRCm38)	missense	probably damaging	0.96
R4739:Hspg2	UTSW	4	137,570,073 (GRCm38)	unclassified	probably benign
R4793:Hspg2	UTSW	4	137,529,473 (GRCm38)	missense	possibly damaging	0.95
R4826:Hspg2	UTSW	4	137,565,395 (GRCm38)	missense	probably damaging	1.00
R4838:Hspg2	UTSW	4	137,541,666 (GRCm38)	missense	possibly damaging	0.53
R4896:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R4926:Hspg2	UTSW	4	137,542,530 (GRCm38)	missense	probably damaging	1.00
R4939:Hspg2	UTSW	4	137,508,031 (GRCm38)	missense	probably damaging	1.00
R5032:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R5033:Hspg2	UTSW	4	137,518,940 (GRCm38)	missense	probably damaging	1.00
R5071:Hspg2	UTSW	4	137,540,230 (GRCm38)	missense	probably damaging	1.00
R5072:Hspg2	UTSW	4	137,540,230 (GRCm38)	missense	probably damaging	1.00
R5114:Hspg2	UTSW	4	137,511,926 (GRCm38)	missense	probably damaging	1.00
R5177:Hspg2	UTSW	4	137,518,772 (GRCm38)	missense	probably damaging	1.00
R5223:Hspg2	UTSW	4	137,543,914 (GRCm38)	missense	probably damaging	1.00
R5433:Hspg2	UTSW	4	137,528,794 (GRCm38)	splice site	probably null
R5529:Hspg2	UTSW	4	137,551,828 (GRCm38)	missense	probably damaging	1.00
R5541:Hspg2	UTSW	4	137,542,825 (GRCm38)	missense	probably benign	0.17
R5541:Hspg2	UTSW	4	137,520,551 (GRCm38)	missense	probably damaging	1.00
R5546:Hspg2	UTSW	4	137,548,174 (GRCm38)	critical splice donor site	probably null
R5728:Hspg2	UTSW	4	137,542,766 (GRCm38)	missense	possibly damaging	0.95
R5764:Hspg2	UTSW	4	137,561,721 (GRCm38)	missense	probably damaging	1.00
R5920:Hspg2	UTSW	4	137,553,782 (GRCm38)	missense	probably damaging	1.00
R5934:Hspg2	UTSW	4	137,518,772 (GRCm38)	missense	probably damaging	1.00
R6074:Hspg2	UTSW	4	137,540,735 (GRCm38)	missense	probably benign
R6164:Hspg2	UTSW	4	137,514,655 (GRCm38)	missense	possibly damaging	0.89
R6175:Hspg2	UTSW	4	137,569,518 (GRCm38)	missense	probably damaging	1.00
R6217:Hspg2	UTSW	4	137,540,248 (GRCm38)	missense	probably damaging	0.99
R6262:Hspg2	UTSW	4	137,519,686 (GRCm38)	missense	probably damaging	1.00
R6299:Hspg2	UTSW	4	137,544,705 (GRCm38)	missense	probably damaging	1.00
R6333:Hspg2	UTSW	4	137,561,955 (GRCm38)	missense	probably damaging	1.00
R6371:Hspg2	UTSW	4	137,541,695 (GRCm38)	missense	probably damaging	1.00
R6430:Hspg2	UTSW	4	137,539,396 (GRCm38)	missense	probably damaging	1.00
R6498:Hspg2	UTSW	4	137,507,801 (GRCm38)	missense	possibly damaging	0.46
R6522:Hspg2	UTSW	4	137,555,275 (GRCm38)	missense	probably damaging	1.00
R6680:Hspg2	UTSW	4	137,565,737 (GRCm38)	missense	probably benign	0.18
R6724:Hspg2	UTSW	4	137,515,307 (GRCm38)	missense	probably damaging	1.00
R6725:Hspg2	UTSW	4	137,515,307 (GRCm38)	missense	probably damaging	1.00
R6762:Hspg2	UTSW	4	137,551,803 (GRCm38)	missense	possibly damaging	0.83
R6785:Hspg2	UTSW	4	137,508,398 (GRCm38)	missense	probably damaging	0.99
R6788:Hspg2	UTSW	4	137,515,307 (GRCm38)	missense	probably damaging	1.00
R6931:Hspg2	UTSW	4	137,540,720 (GRCm38)	missense	probably damaging	1.00
R6959:Hspg2	UTSW	4	137,519,289 (GRCm38)	missense	probably benign	0.45
R6968:Hspg2	UTSW	4	137,535,156 (GRCm38)	missense	probably damaging	1.00
R6988:Hspg2	UTSW	4	137,528,890 (GRCm38)	missense	probably damaging	1.00
R7021:Hspg2	UTSW	4	137,542,269 (GRCm38)	missense	possibly damaging	0.69
R7089:Hspg2	UTSW	4	137,544,366 (GRCm38)	missense	possibly damaging	0.51
R7107:Hspg2	UTSW	4	137,510,652 (GRCm38)	missense	probably damaging	1.00
R7141:Hspg2	UTSW	4	137,552,116 (GRCm38)	missense	probably damaging	1.00
R7161:Hspg2	UTSW	4	137,514,719 (GRCm38)	missense	probably damaging	1.00
R7189:Hspg2	UTSW	4	137,533,561 (GRCm38)	critical splice donor site	probably null
R7238:Hspg2	UTSW	4	137,508,393 (GRCm38)	missense	probably damaging	1.00
R7253:Hspg2	UTSW	4	137,519,946 (GRCm38)	missense	probably benign	0.15
R7278:Hspg2	UTSW	4	137,551,125 (GRCm38)	missense	probably damaging	0.98
R7287:Hspg2	UTSW	4	137,529,556 (GRCm38)	missense	probably benign	0.00
R7390:Hspg2	UTSW	4	137,539,179 (GRCm38)	missense	probably damaging	1.00
R7436:Hspg2	UTSW	4	137,515,664 (GRCm38)	missense	probably damaging	0.99
R7479:Hspg2	UTSW	4	137,539,403 (GRCm38)	missense	probably benign	0.17
R7516:Hspg2	UTSW	4	137,542,620 (GRCm38)	missense	possibly damaging	0.94
R7540:Hspg2	UTSW	4	137,541,440 (GRCm38)	missense	possibly damaging	0.51
R7603:Hspg2	UTSW	4	137,557,192 (GRCm38)	missense	possibly damaging	0.91
R7603:Hspg2	UTSW	4	137,548,368 (GRCm38)	missense	probably damaging	1.00
R7625:Hspg2	UTSW	4	137,564,938 (GRCm38)	missense	probably damaging	1.00
R7696:Hspg2	UTSW	4	137,511,966 (GRCm38)	missense	possibly damaging	0.78
R7767:Hspg2	UTSW	4	137,511,866 (GRCm38)	missense	probably damaging	1.00
R7815:Hspg2	UTSW	4	137,512,464 (GRCm38)	missense	probably damaging	1.00
R7825:Hspg2	UTSW	4	137,558,849 (GRCm38)	missense	probably damaging	1.00
R7863:Hspg2	UTSW	4	137,564,824 (GRCm38)	missense	probably benign	0.03
R7885:Hspg2	UTSW	4	137,516,837 (GRCm38)	missense	probably damaging	1.00
R7899:Hspg2	UTSW	4	137,548,116 (GRCm38)	missense	possibly damaging	0.72
R7937:Hspg2	UTSW	4	137,550,932 (GRCm38)	missense	probably benign	0.01
R7975:Hspg2	UTSW	4	137,555,221 (GRCm38)	missense	probably benign	0.26
R8078:Hspg2	UTSW	4	137,508,022 (GRCm38)	missense	probably damaging	1.00
R8285:Hspg2	UTSW	4	137,512,663 (GRCm38)	missense	probably benign	0.18
R8314:Hspg2	UTSW	4	137,539,675 (GRCm38)	missense	probably benign	0.12
R8322:Hspg2	UTSW	4	137,518,979 (GRCm38)	missense	possibly damaging	0.88
R8323:Hspg2	UTSW	4	137,518,979 (GRCm38)	missense	possibly damaging	0.88
R8324:Hspg2	UTSW	4	137,518,979 (GRCm38)	missense	possibly damaging	0.88
R8341:Hspg2	UTSW	4	137,518,979 (GRCm38)	missense	possibly damaging	0.88
R8383:Hspg2	UTSW	4	137,544,370 (GRCm38)	missense	possibly damaging	0.66
R8425:Hspg2	UTSW	4	137,550,867 (GRCm38)	nonsense	probably null
R8491:Hspg2	UTSW	4	137,553,719 (GRCm38)	missense	probably benign	0.00
R8525:Hspg2	UTSW	4	137,539,448 (GRCm38)	missense	probably damaging	0.98
R8978:Hspg2	UTSW	4	137,564,030 (GRCm38)	missense	probably benign	0.09
R9152:Hspg2	UTSW	4	137,522,565 (GRCm38)	missense	possibly damaging	0.89
R9166:Hspg2	UTSW	4	137,542,874 (GRCm38)	missense	probably damaging	1.00
R9175:Hspg2	UTSW	4	137,529,346 (GRCm38)	missense	probably damaging	0.98
R9210:Hspg2	UTSW	4	137,562,479 (GRCm38)	missense	probably benign	0.05
R9221:Hspg2	UTSW	4	137,560,415 (GRCm38)	missense	possibly damaging	0.79
R9325:Hspg2	UTSW	4	137,538,241 (GRCm38)	missense	probably damaging	1.00
R9339:Hspg2	UTSW	4	137,551,169 (GRCm38)	missense	probably benign
R9340:Hspg2	UTSW	4	137,569,516 (GRCm38)	missense	probably damaging	1.00
R9358:Hspg2	UTSW	4	137,517,598 (GRCm38)	missense	probably damaging	1.00
R9451:Hspg2	UTSW	4	137,511,069 (GRCm38)	missense	probably damaging	1.00
R9534:Hspg2	UTSW	4	137,540,761 (GRCm38)	missense	probably benign
R9656:Hspg2	UTSW	4	137,551,885 (GRCm38)	missense	probably benign
R9664:Hspg2	UTSW	4	137,539,576 (GRCm38)	missense	probably benign	0.03
R9695:Hspg2	UTSW	4	137,538,390 (GRCm38)	missense	probably damaging	1.00
R9741:Hspg2	UTSW	4	137,512,651 (GRCm38)	missense	probably damaging	1.00
V5622:Hspg2	UTSW	4	137,533,738 (GRCm38)	missense	probably damaging	0.99
V5622:Hspg2	UTSW	4	137,533,738 (GRCm38)	missense	probably damaging	0.99
X0028:Hspg2	UTSW	4	137,550,391 (GRCm38)	missense	probably benign
Z1177:Hspg2	UTSW	4	137,568,373 (GRCm38)	missense	possibly damaging	0.64
Z1177:Hspg2	UTSW	4	137,564,518 (GRCm38)	missense	probably damaging	0.99
Z1177:Hspg2	UTSW	4	137,550,467 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAGTCCAGCTCAGTCCAC -3'
(R):5'- CTGAGGTGAGCAATAAGGCCTG -3'

Sequencing Primer
(F):5'- AGCTCAGTCCACCACCGG -3'
(R):5'- TAAGGCCTGGCGATGGGTAC -3'

Posted On

2014-10-16