Mutagenetix > Incidental Mutation

Incidental Mutation 'R6371:Hspg2'

513513

Institutional Source

Beutler Lab

Gene Symbol

Hspg2

Ensembl Gene

ENSMUSG00000028763

Gene Name

perlecan (heparan sulfate proteoglycan 2)

Synonyms

Plc, Pcn, per

MMRRC Submission

044521-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6371 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137468769-137570630 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137541695 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 2213 (Y2213H)

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: Y2207H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030547
Gene: ENSMUSG00000028763
AA Change: Y2207H

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: Y2213H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131316
Gene: ENSMUSG00000028763
AA Change: Y2213H

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

Meta Mutation Damage Score

0.8566

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.2%
20x: 94.1%

Validation Efficiency

98% (50/51)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	C	T	12: 113,490,274 (GRCm38)	S237L	probably damaging	Het
Ank3	T	G	10: 69,808,879 (GRCm38)	L58V	probably damaging	Het
Arsb	A	T	13: 93,790,066 (GRCm38)	I115F	possibly damaging	Het
Atad2b	T	C	12: 4,973,970 (GRCm38)	Y32H	probably damaging	Het
Brd1	A	C	15: 88,713,998 (GRCm38)	M515R	probably benign	Het
Cbx7	A	G	15: 79,918,822 (GRCm38)	S30P	possibly damaging	Het
Cdk12	A	G	11: 98,245,288 (GRCm38)	T1123A	unknown	Het
Cep170b	A	G	12: 112,740,945 (GRCm38)	D375G	probably damaging	Het
Clcn3	T	C	8: 60,937,335 (GRCm38)	K164E	probably benign	Het
Clip4	A	C	17: 71,856,464 (GRCm38)	K677T	probably damaging	Het
Clrn2	T	C	5: 45,460,198 (GRCm38)	I137T	possibly damaging	Het
Cntln	T	C	4: 84,884,579 (GRCm38)	S39P	probably damaging	Het
Crocc2	T	A	1: 93,215,631 (GRCm38)	N1318K	probably benign	Het
Emc1	C	T	4: 139,371,665 (GRCm38)	Q820*	probably null	Het
Fam71e2	A	G	7: 4,759,359 (GRCm38)	V257A	probably benign	Het
Fbxl2	G	A	9: 113,989,383 (GRCm38)	T170I	probably damaging	Het
Fyb2	A	G	4: 104,995,778 (GRCm38)	T552A	probably damaging	Het
Gm2381	G	A	7: 42,820,586 (GRCm38)	A38V	probably benign	Het
Gpt2	G	A	8: 85,518,052 (GRCm38)	E325K	probably benign	Het
Helz2	C	T	2: 181,233,467 (GRCm38)	E1745K	probably damaging	Het
Ifnar2	T	C	16: 91,388,098 (GRCm38)	Y24H	possibly damaging	Het
Inpp5d	T	A	1: 87,699,675 (GRCm38)	L566Q	probably damaging	Het
Itgb2	C	A	10: 77,548,597 (GRCm38)	P184H	probably damaging	Het
Kcnb2	T	A	1: 15,711,212 (GRCm38)	D769E	probably benign	Het
Lrp1b	A	G	2: 40,851,654 (GRCm38)	M3087T	possibly damaging	Het
Ltbp3	A	G	19: 5,745,772 (GRCm38)		probably null	Het
Ms4a6b	A	G	19: 11,520,364 (GRCm38)	E9G	probably damaging	Het
Nat3	G	A	8: 67,524,179 (GRCm38)		probably null	Het
Ndufaf1	A	T	2: 119,660,053 (GRCm38)	D175E	probably damaging	Het
Nop58	T	G	1: 59,711,312 (GRCm38)		probably benign	Het
Olfr122	A	G	17: 37,772,435 (GRCm38)	T261A	probably benign	Het
Olfr285	A	G	15: 98,313,338 (GRCm38)	Y71H	possibly damaging	Het
P3h4	C	T	11: 100,411,749 (GRCm38)	E354K	probably benign	Het
Plekhm2	T	G	4: 141,629,532 (GRCm38)	T787P	possibly damaging	Het
Ppia	C	T	11: 6,418,230 (GRCm38)	T37I	probably benign	Het
Reln	T	A	5: 21,995,513 (GRCm38)	M1330L	probably benign	Het
Ric1	A	G	19: 29,562,026 (GRCm38)	E53G	probably benign	Het
Sgip1	T	A	4: 102,966,285 (GRCm38)	V721E	probably damaging	Het
Slc33a1	A	T	3: 63,943,288 (GRCm38)	D538E	probably benign	Het
Son	T	C	16: 91,674,741 (GRCm38)			Het
Srebf1	A	T	11: 60,203,515 (GRCm38)	S591R	probably damaging	Het
St3gal1	A	G	15: 67,111,346 (GRCm38)	V187A	possibly damaging	Het
Taok2	G	A	7: 126,870,147 (GRCm38)	R1170W	probably damaging	Het
Tsc2	A	T	17: 24,626,714 (GRCm38)	V210E	probably benign	Het
Ttc6	T	A	12: 57,728,463 (GRCm38)	N1648K	possibly damaging	Het
Vgll3	C	T	16: 65,839,245 (GRCm38)	P94L	probably damaging	Het
Vmn2r54	A	T	7: 12,615,435 (GRCm38)	V740E	probably damaging	Het
Yeats2	A	G	16: 20,221,710 (GRCm38)	E1127G	possibly damaging	Het
Zfp709	T	A	8: 71,889,485 (GRCm38)	Y252N	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
R2280:Hspg2	UTSW	4	137,522,043 (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
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'- GAAGGACAAACCCTGGATCTG -3'
(R):5'- CAGCTAGCAGTAGGAGTCAC -3'

Sequencing Primer
(F):5'- AACCCTGGATCTGAACTGCGTG -3'
(R):5'- GTCACAGTTAGGGATGTCACACC -3'

Posted On

2018-04-27