Mutagenetix > Incidental Mutation

Incidental Mutation 'R4939:Hspg2'

382898

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, per, perlecan, Pcn

MMRRC Submission

042538-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137196080-137297941 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137235342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 126 (I126F)

Ref Sequence

ENSEMBL: ENSMUSP00000131316 (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: I126F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: I126F

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: I126F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: I126F

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: 98.4%
10x: 96.6%
20x: 93.4%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,161,962 (GRCm39)	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,049,288 (GRCm39)	M585V	probably benign	Het
Brca1	A	G	11: 101,398,876 (GRCm39)	V1572A	probably benign	Het
C1ql4	A	T	15: 98,985,521 (GRCm39)	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,822,502 (GRCm39)		probably null	Het
Cdk6	A	T	5: 3,394,377 (GRCm39)	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,395,537 (GRCm39)		probably benign	Het
Clic4	T	C	4: 134,950,852 (GRCm39)	E113G	probably benign	Het
Creld1	C	A	6: 113,465,140 (GRCm39)	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,104,873 (GRCm39)		probably null	Het
Dnaaf3	A	T	7: 4,530,144 (GRCm39)	S246R	probably damaging	Het
Dnah12	A	T	14: 26,613,481 (GRCm39)	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,683 (GRCm39)	D446V	probably damaging	Het
Dock8	A	T	19: 25,099,764 (GRCm39)	Y629F	probably damaging	Het
Duxf4	T	C	10: 58,071,425 (GRCm39)	N263S	probably benign	Het
E2f8	A	T	7: 48,521,886 (GRCm39)	N405K	probably benign	Het
Flg	A	G	3: 93,187,154 (GRCm39)	N202S	probably benign	Het
Glyatl3	A	G	17: 41,220,914 (GRCm39)		probably null	Het
Gm38999	A	G	7: 43,077,885 (GRCm39)	T63A	possibly damaging	Het
Grap	A	G	11: 61,551,124 (GRCm39)	Y52C	probably damaging	Het
Haus2	T	A	2: 120,449,517 (GRCm39)	I187K	probably damaging	Het
Heatr5b	T	C	17: 79,069,689 (GRCm39)	E1686G	probably benign	Het
Herc2	A	G	7: 55,856,484 (GRCm39)	D3944G	probably damaging	Het
Hexd	A	T	11: 121,098,542 (GRCm39)	M9L	probably benign	Het
Hoxa3	T	C	6: 52,147,656 (GRCm39)		probably benign	Het
Itpr1	T	A	6: 108,417,519 (GRCm39)	C123*	probably null	Het
Jmjd1c	T	A	10: 67,081,916 (GRCm39)	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,967,135 (GRCm39)	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,865,245 (GRCm39)	S747R	possibly damaging	Het
Krt26	T	C	11: 99,225,522 (GRCm39)	M320V	probably benign	Het
Lama1	T	G	17: 68,044,470 (GRCm39)	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,002,582 (GRCm39)	D1103G	probably damaging	Het
Lepr	A	T	4: 101,590,635 (GRCm39)	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,600,805 (GRCm39)		probably null	Het
Mcoln2	A	T	3: 145,897,996 (GRCm39)	H39L	probably benign	Het
Mtrex	T	C	13: 113,046,426 (GRCm39)	D308G	possibly damaging	Het
Myh11	T	A	16: 14,057,371 (GRCm39)	T315S	probably benign	Het
Ncapd3	T	C	9: 26,975,165 (GRCm39)		probably null	Het
Nlrp9b	G	T	7: 19,758,421 (GRCm39)	V553F	probably damaging	Het
Nubpl	A	G	12: 52,227,878 (GRCm39)	N129S	probably damaging	Het
Nup214	C	A	2: 31,873,171 (GRCm39)	T255K	probably benign	Het
Or10j3	T	C	1: 173,031,030 (GRCm39)	Y36H	possibly damaging	Het
Or2t46	G	T	11: 58,472,037 (GRCm39)	M122I	probably damaging	Het
Or2y17	A	G	11: 49,231,376 (GRCm39)	T6A	probably benign	Het
Or4d1	G	T	11: 87,804,950 (GRCm39)	P261T	probably damaging	Het
Or52z14	T	C	7: 103,253,458 (GRCm39)	V199A	probably benign	Het
Or5b3	T	A	19: 13,388,219 (GRCm39)	N95K	probably benign	Het
Orc3	G	A	4: 34,593,126 (GRCm39)	Q256*	probably null	Het
Pbrm1	A	G	14: 30,783,580 (GRCm39)	M566V	probably damaging	Het
Pde6b	A	G	5: 108,569,363 (GRCm39)	I357V	probably benign	Het
Pkdrej	A	G	15: 85,704,484 (GRCm39)	I484T	possibly damaging	Het
Plvap	A	G	8: 71,964,083 (GRCm39)	V93A	probably benign	Het
Plxna4	T	C	6: 32,142,697 (GRCm39)	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,255,817 (GRCm39)	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,665,335 (GRCm39)		probably null	Het
Ranbp17	T	C	11: 33,169,223 (GRCm39)	N997S	probably benign	Het
Rpap2	G	T	5: 107,751,491 (GRCm39)		probably null	Het
Rrm1	T	C	7: 102,116,131 (GRCm39)	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,460,021 (GRCm39)		probably null	Het
Sh3pxd2a	A	G	19: 47,266,843 (GRCm39)	Y277H	probably damaging	Het
Shank1	C	T	7: 43,975,586 (GRCm39)	P477S	unknown	Het
Shtn1	T	C	19: 59,010,633 (GRCm39)	E278G	probably benign	Het
Skap2	T	A	6: 51,899,303 (GRCm39)	I109F	possibly damaging	Het
Slc28a3	A	C	13: 58,706,395 (GRCm39)	I615M	probably benign	Het
Slc4a11	A	G	2: 130,526,788 (GRCm39)	L780P	probably damaging	Het
Slc5a4b	T	C	10: 75,917,301 (GRCm39)	E245G	probably benign	Het
Slfn8	C	T	11: 82,894,111 (GRCm39)	A843T	probably benign	Het
Sncaip	A	T	18: 53,040,335 (GRCm39)	Q843L	possibly damaging	Het
Spidr	T	A	16: 15,958,610 (GRCm39)	K51*	probably null	Het
Spopfm2	A	T	3: 94,083,540 (GRCm39)	Y90*	probably null	Het
Tas2r123	T	C	6: 132,824,808 (GRCm39)	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,278,335 (GRCm39)	D757G	probably benign	Het
Tmem132d	A	T	5: 127,873,139 (GRCm39)	V490D	probably damaging	Het
Top2a	T	A	11: 98,900,918 (GRCm39)	H557L	probably damaging	Het
Trafd1	A	G	5: 121,513,254 (GRCm39)	I328T	probably benign	Het
Trappc11	G	A	8: 47,972,700 (GRCm39)	A291V	probably damaging	Het
Tuba1c	A	G	15: 98,935,835 (GRCm39)	Y432C	probably damaging	Het
Utp11	T	G	4: 124,577,043 (GRCm39)	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,542,316 (GRCm39)	T239P	probably damaging	Het
Vwce	A	T	19: 10,622,414 (GRCm39)	N239Y	probably damaging	Het
Yes1	T	C	5: 32,802,457 (GRCm39)		probably null	Het
Zfand6	A	C	7: 84,265,030 (GRCm39)	*224G	probably null	Het
Zfp408	A	T	2: 91,475,450 (GRCm39)	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,795,244 (GRCm39)		probably null	Het
Zfp946	T	C	17: 22,674,418 (GRCm39)	F391L	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	137,266,886 (GRCm39)	missense	possibly damaging	0.80
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
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'- CGGGCTCTGGTAAATTTTACTCG -3'
(R):5'- GGCCACTTCTGGTAATGGATCC -3'

Sequencing Primer
(F):5'- ACTCGGTCCATTGAGTACAGC -3'
(R):5'- TGGATCCCCCACCTATGC -3'

Posted On

2016-04-27