Mutagenetix > Incidental Mutation

Incidental Mutation 'R6239:Cspg4'

505126

Institutional Source

Beutler Lab

Gene Symbol

Cspg4

Ensembl Gene

ENSMUSG00000032911

Gene Name

chondroitin sulfate proteoglycan 4

Synonyms

Cspg4a, AN2, NG2, 4732461B14Rik

MMRRC Submission

044363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56795466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1067 (D1067G)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035661]

AlphaFold

Q8VHY0

Predicted Effect

probably benign
Transcript: ENSMUST00000035661
AA Change: D1067G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: D1067G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
LamG	47	179	9.16e-22	SMART
LamG	223	364	3.52e-23	SMART
low complexity region	384	397	N/A	INTRINSIC
Pfam:Cadherin_3	495	646	1e-36	PFAM
Pfam:Cadherin_3	732	885	7.9e-14	PFAM
Pfam:Cadherin_3	868	996	7e-15	PFAM
Pfam:Cadherin_3	972	1115	9e-26	PFAM
Pfam:Cadherin_3	1116	1223	1.1e-10	PFAM
Pfam:Cadherin_3	1225	1344	3.3e-12	PFAM
Pfam:Cadherin_3	1425	1568	6.3e-52	PFAM
Pfam:Cadherin_3	1578	1684	9.7e-9	PFAM
Pfam:Cadherin_3	1674	1809	3.2e-9	PFAM
Pfam:Cadherin_3	1779	1929	1.6e-31	PFAM
transmembrane domain	2229	2251	N/A	INTRINSIC
low complexity region	2295	2305	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215666

Meta Mutation Damage Score

0.0990

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] A human melanoma-associated chondroitin sulfate proteoglycan plays a role in stabilizing cell-substratum interactions during early events of melanoma cell spreading on endothelial basement membranes. CSPG4 represents an integral membrane chondroitin sulfate proteoglycan expressed by human malignant melanoma cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display abnormal dentate gyrus morphology and abnormal smooth muscle cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	T	A	1: 78,674,182 (GRCm39)	S373T	probably benign	Het
Aox1	G	A	1: 58,344,550 (GRCm39)		probably null	Het
Apol7c	T	C	15: 77,410,631 (GRCm39)	E105G	probably benign	Het
B4galnt2	C	T	11: 95,767,065 (GRCm39)	A184T	probably damaging	Het
Castor1	A	G	11: 4,168,967 (GRCm39)	T45A	possibly damaging	Het
Casz1	A	G	4: 149,022,734 (GRCm39)	Q600R	probably damaging	Het
Cep152	A	T	2: 125,421,332 (GRCm39)	S1133T	probably benign	Het
Cep295	T	C	9: 15,233,927 (GRCm39)	I2290V	possibly damaging	Het
Clmn	A	T	12: 104,747,104 (GRCm39)	H814Q	probably benign	Het
Creb3l1	A	G	2: 91,825,748 (GRCm39)	C124R	probably damaging	Het
Cyp1a1	T	A	9: 57,609,361 (GRCm39)	V354E	probably benign	Het
Cyp2t4	A	T	7: 26,856,900 (GRCm39)	Q280L	possibly damaging	Het
Dcaf6	A	T	1: 165,178,839 (GRCm39)	D563E	possibly damaging	Het
Dennd2a	A	G	6: 39,465,750 (GRCm39)	F607L	probably damaging	Het
Dennd2d	T	A	3: 106,402,193 (GRCm39)	F288I	probably damaging	Het
Dnah8	C	T	17: 31,029,333 (GRCm39)	R4101C	probably damaging	Het
Dnai4	A	C	4: 102,923,640 (GRCm39)	N396K	probably benign	Het
Dnase2a	G	T	8: 85,635,508 (GRCm39)		probably null	Het
Dnmbp	C	T	19: 43,836,624 (GRCm39)	V1235I	probably benign	Het
Eml6	T	C	11: 29,699,275 (GRCm39)	D1826G	probably damaging	Het
Fam186b	T	C	15: 99,178,315 (GRCm39)	Y337C	probably benign	Het
Flg2	A	T	3: 93,108,579 (GRCm39)	E202D	probably benign	Het
Fus	C	T	7: 127,580,606 (GRCm39)	R228C	possibly damaging	Het
Gbf1	A	G	19: 46,248,135 (GRCm39)	E304G	probably benign	Het
Ggt1	A	G	10: 75,421,515 (GRCm39)		probably null	Het
Gm19410	A	T	8: 36,245,918 (GRCm39)	D354V	probably damaging	Het
Hdac4	T	C	1: 91,982,694 (GRCm39)	D8G	probably benign	Het
Hhat	A	T	1: 192,277,395 (GRCm39)	Y355N	probably damaging	Het
Ift140	T	C	17: 25,247,946 (GRCm39)	V268A	probably benign	Het
Il4i1	A	G	7: 44,489,836 (GRCm39)	R542G	probably benign	Het
Itga2b	C	T	11: 102,356,144 (GRCm39)	V328I	possibly damaging	Het
Kmt2a	T	C	9: 44,731,093 (GRCm39)		probably benign	Het
Lrit3	A	T	3: 129,593,995 (GRCm39)	I194N	probably damaging	Het
Mast4	A	G	13: 102,872,717 (GRCm39)	L2025P	probably benign	Het
Neb	T	C	2: 52,164,000 (GRCm39)	N1986S	probably benign	Het
Osbpl7	G	A	11: 96,943,650 (GRCm39)		probably null	Het
Pabpc2	T	A	18: 39,906,891 (GRCm39)	L52Q	probably damaging	Het
Pald1	T	C	10: 61,156,910 (GRCm39)	S847G	possibly damaging	Het
Pcdh12	T	C	18: 38,415,454 (GRCm39)	D557G	probably damaging	Het
Prmt2	A	T	10: 76,058,425 (GRCm39)	L128*	probably null	Het
Ptpn3	C	A	4: 57,249,981 (GRCm39)	A172S	probably benign	Het
Ptpro	A	T	6: 137,357,606 (GRCm39)	T366S	probably benign	Het
Reg4	A	G	3: 98,138,600 (GRCm39)	K100R	probably null	Het
Rims2	A	T	15: 39,061,758 (GRCm39)	M1L	unknown	Het
Sele	A	G	1: 163,878,377 (GRCm39)	S239G	probably damaging	Het
Slc11a1	G	A	1: 74,423,274 (GRCm39)	R375Q	possibly damaging	Het
Slc13a3	T	C	2: 165,248,617 (GRCm39)	T554A	unknown	Het
Snw1	A	T	12: 87,511,398 (GRCm39)	N84K	probably damaging	Het
Stpg4	T	C	17: 87,718,667 (GRCm39)	Y171C	probably benign	Het
Styxl2	A	T	1: 165,926,388 (GRCm39)	S1075T	probably damaging	Het
Tmem222	T	A	4: 132,995,606 (GRCm39)	H147L	probably damaging	Het
Tmprss11f	G	T	5: 86,681,636 (GRCm39)	R206S	probably damaging	Het
Trappc11	G	A	8: 47,982,529 (GRCm39)	T70M	possibly damaging	Het
Trpv4	G	A	5: 114,782,887 (GRCm39)	T25I	probably benign	Het
Ttr	T	C	18: 20,806,692 (GRCm39)	V114A	possibly damaging	Het
Umod	C	T	7: 119,076,520 (GRCm39)	C82Y	probably damaging	Het
Upk3a	T	A	15: 84,905,515 (GRCm39)	M208K	probably damaging	Het
Vmn1r59	G	A	7: 5,457,539 (GRCm39)	P74S	probably damaging	Het
Vwa3a	A	T	7: 120,393,457 (GRCm39)	R851S	probably benign	Het
Zfp236	G	T	18: 82,675,229 (GRCm39)	T421K	possibly damaging	Het
Zswim9	C	A	7: 12,995,257 (GRCm39)	G300*	probably null	Het

Other mutations in Cspg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Cspg4	APN	9	56,806,149 (GRCm39)	missense	probably damaging	1.00
IGL01322:Cspg4	APN	9	56,805,872 (GRCm39)	missense	probably damaging	1.00
IGL01922:Cspg4	APN	9	56,795,171 (GRCm39)	missense	probably damaging	1.00
IGL01993:Cspg4	APN	9	56,805,762 (GRCm39)	missense	probably benign	0.09
IGL02379:Cspg4	APN	9	56,799,893 (GRCm39)	splice site	probably benign
IGL02398:Cspg4	APN	9	56,793,970 (GRCm39)	missense	probably benign	0.43
IGL02503:Cspg4	APN	9	56,804,687 (GRCm39)	missense	probably damaging	1.00
IGL02504:Cspg4	APN	9	56,793,056 (GRCm39)	missense	probably benign	0.06
IGL02692:Cspg4	APN	9	56,794,738 (GRCm39)	missense	probably benign	0.00
IGL02728:Cspg4	APN	9	56,793,765 (GRCm39)	missense	probably damaging	1.00
IGL02806:Cspg4	APN	9	56,797,543 (GRCm39)	missense	possibly damaging	0.57
IGL02886:Cspg4	APN	9	56,804,672 (GRCm39)	missense	probably damaging	0.99
IGL03005:Cspg4	APN	9	56,795,772 (GRCm39)	missense	probably damaging	1.00
IGL03008:Cspg4	APN	9	56,805,759 (GRCm39)	missense	possibly damaging	0.48
IGL03202:Cspg4	APN	9	56,805,023 (GRCm39)	missense	possibly damaging	0.93
chiclets	UTSW	9	56,792,506 (GRCm39)	splice site	probably null
R0066:Cspg4	UTSW	9	56,795,418 (GRCm39)	missense	probably damaging	1.00
R0066:Cspg4	UTSW	9	56,795,418 (GRCm39)	missense	probably damaging	1.00
R0254:Cspg4	UTSW	9	56,804,694 (GRCm39)	missense	probably damaging	0.98
R0284:Cspg4	UTSW	9	56,793,423 (GRCm39)	missense	probably damaging	0.96
R0513:Cspg4	UTSW	9	56,805,375 (GRCm39)	missense	probably benign	0.03
R0602:Cspg4	UTSW	9	56,795,301 (GRCm39)	missense	probably damaging	1.00
R0747:Cspg4	UTSW	9	56,797,564 (GRCm39)	missense	probably damaging	1.00
R1005:Cspg4	UTSW	9	56,796,020 (GRCm39)	missense	probably benign	0.13
R1421:Cspg4	UTSW	9	56,803,910 (GRCm39)	missense	probably benign	0.00
R1443:Cspg4	UTSW	9	56,793,796 (GRCm39)	missense	probably damaging	1.00
R1481:Cspg4	UTSW	9	56,795,094 (GRCm39)	missense	probably damaging	0.98
R1585:Cspg4	UTSW	9	56,806,151 (GRCm39)	missense	probably damaging	0.99
R1624:Cspg4	UTSW	9	56,795,754 (GRCm39)	missense	probably damaging	1.00
R1670:Cspg4	UTSW	9	56,804,687 (GRCm39)	missense	probably damaging	1.00
R1721:Cspg4	UTSW	9	56,796,027 (GRCm39)	missense	probably damaging	0.98
R1728:Cspg4	UTSW	9	56,805,821 (GRCm39)	missense	probably benign	0.00
R1729:Cspg4	UTSW	9	56,805,821 (GRCm39)	missense	probably benign	0.00
R1763:Cspg4	UTSW	9	56,794,263 (GRCm39)	missense	probably damaging	0.97
R1772:Cspg4	UTSW	9	56,804,776 (GRCm39)	missense	probably benign	0.02
R1938:Cspg4	UTSW	9	56,794,385 (GRCm39)	missense	probably benign	0.00
R1975:Cspg4	UTSW	9	56,797,762 (GRCm39)	missense	probably damaging	1.00
R2064:Cspg4	UTSW	9	56,803,940 (GRCm39)	missense	probably damaging	1.00
R2185:Cspg4	UTSW	9	56,794,256 (GRCm39)	missense	probably benign	0.37
R2252:Cspg4	UTSW	9	56,805,330 (GRCm39)	missense	probably damaging	1.00
R2291:Cspg4	UTSW	9	56,800,027 (GRCm39)	missense	probably damaging	0.96
R2329:Cspg4	UTSW	9	56,795,834 (GRCm39)	missense	probably benign	0.00
R3780:Cspg4	UTSW	9	56,795,517 (GRCm39)	missense	probably damaging	1.00
R3830:Cspg4	UTSW	9	56,804,905 (GRCm39)	missense	probably damaging	0.99
R3944:Cspg4	UTSW	9	56,793,407 (GRCm39)	missense	probably damaging	1.00
R4011:Cspg4	UTSW	9	56,794,601 (GRCm39)	missense	probably benign	0.19
R4115:Cspg4	UTSW	9	56,805,678 (GRCm39)	missense	probably damaging	1.00
R4173:Cspg4	UTSW	9	56,795,214 (GRCm39)	missense	probably damaging	1.00
R4243:Cspg4	UTSW	9	56,795,141 (GRCm39)	missense	probably benign	0.12
R4329:Cspg4	UTSW	9	56,799,749 (GRCm39)	missense	probably damaging	0.99
R4544:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4545:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4546:Cspg4	UTSW	9	56,795,913 (GRCm39)	missense	possibly damaging	0.79
R4649:Cspg4	UTSW	9	56,794,149 (GRCm39)	missense	possibly damaging	0.93
R4663:Cspg4	UTSW	9	56,793,960 (GRCm39)	missense	possibly damaging	0.61
R4674:Cspg4	UTSW	9	56,805,489 (GRCm39)	missense	probably damaging	1.00
R4779:Cspg4	UTSW	9	56,793,092 (GRCm39)	missense	probably damaging	1.00
R4884:Cspg4	UTSW	9	56,805,353 (GRCm39)	missense	probably benign	0.00
R5021:Cspg4	UTSW	9	56,805,014 (GRCm39)	missense	probably benign	0.01
R5051:Cspg4	UTSW	9	56,793,020 (GRCm39)	missense	possibly damaging	0.95
R5328:Cspg4	UTSW	9	56,793,140 (GRCm39)	missense	probably benign	0.01
R5394:Cspg4	UTSW	9	56,797,484 (GRCm39)	missense	probably damaging	1.00
R5567:Cspg4	UTSW	9	56,793,932 (GRCm39)	missense	probably benign	0.00
R5682:Cspg4	UTSW	9	56,793,480 (GRCm39)	missense	probably benign	0.14
R5690:Cspg4	UTSW	9	56,806,019 (GRCm39)	missense	probably benign	0.01
R5715:Cspg4	UTSW	9	56,798,335 (GRCm39)	missense	possibly damaging	0.90
R5717:Cspg4	UTSW	9	56,793,082 (GRCm39)	missense	probably benign
R5726:Cspg4	UTSW	9	56,793,188 (GRCm39)	missense	probably damaging	1.00
R5898:Cspg4	UTSW	9	56,792,506 (GRCm39)	splice site	probably null
R6140:Cspg4	UTSW	9	56,804,508 (GRCm39)	missense	probably benign	0.35
R6147:Cspg4	UTSW	9	56,796,056 (GRCm39)	missense	probably damaging	0.99
R6343:Cspg4	UTSW	9	56,799,976 (GRCm39)	missense	probably benign
R6351:Cspg4	UTSW	9	56,799,928 (GRCm39)	missense	probably benign	0.00
R6564:Cspg4	UTSW	9	56,797,442 (GRCm39)	missense	probably benign	0.02
R6814:Cspg4	UTSW	9	56,797,624 (GRCm39)	missense	possibly damaging	0.91
R6928:Cspg4	UTSW	9	56,805,164 (GRCm39)	missense	possibly damaging	0.95
R6967:Cspg4	UTSW	9	56,797,420 (GRCm39)	missense	possibly damaging	0.52
R6981:Cspg4	UTSW	9	56,794,385 (GRCm39)	missense	probably benign	0.00
R7033:Cspg4	UTSW	9	56,795,358 (GRCm39)	missense	probably damaging	0.96
R7419:Cspg4	UTSW	9	56,795,727 (GRCm39)	missense	possibly damaging	0.94
R7809:Cspg4	UTSW	9	56,797,474 (GRCm39)	missense	probably damaging	1.00
R7940:Cspg4	UTSW	9	56,795,381 (GRCm39)	nonsense	probably null
R8078:Cspg4	UTSW	9	56,797,543 (GRCm39)	missense	possibly damaging	0.57
R8082:Cspg4	UTSW	9	56,793,177 (GRCm39)	missense	probably damaging	1.00
R8217:Cspg4	UTSW	9	56,797,637 (GRCm39)	missense	possibly damaging	0.53
R8237:Cspg4	UTSW	9	56,799,964 (GRCm39)	missense	probably damaging	1.00
R8353:Cspg4	UTSW	9	56,805,953 (GRCm39)	missense	probably damaging	1.00
R8372:Cspg4	UTSW	9	56,794,479 (GRCm39)	missense	probably damaging	1.00
R8691:Cspg4	UTSW	9	56,800,280 (GRCm39)	missense	probably benign
R8720:Cspg4	UTSW	9	56,794,797 (GRCm39)	missense	probably benign	0.25
R8907:Cspg4	UTSW	9	56,790,967 (GRCm39)	missense	probably damaging	1.00
R9063:Cspg4	UTSW	9	56,795,687 (GRCm39)	missense	probably benign	0.03
R9115:Cspg4	UTSW	9	56,797,736 (GRCm39)	missense	probably damaging	1.00
R9152:Cspg4	UTSW	9	56,795,463 (GRCm39)	missense	probably benign	0.26
R9154:Cspg4	UTSW	9	56,798,287 (GRCm39)	missense
R9361:Cspg4	UTSW	9	56,803,877 (GRCm39)	missense	probably damaging	1.00
R9574:Cspg4	UTSW	9	56,797,342 (GRCm39)	missense	probably damaging	1.00
R9608:Cspg4	UTSW	9	56,792,836 (GRCm39)	missense	probably benign
R9685:Cspg4	UTSW	9	56,797,622 (GRCm39)	missense	probably benign	0.05
X0065:Cspg4	UTSW	9	56,793,020 (GRCm39)	missense	possibly damaging	0.95
Z1088:Cspg4	UTSW	9	56,793,320 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATATCCCGTTTGTGGCCAC -3'
(R):5'- AAGATAGGGTTCTGAGGCTTGGAC -3'

Sequencing Primer
(F):5'- CAGTGGTGACATGGCCTG -3'
(R):5'- ACCTCCAGCATGGCAGTAG -3'

Posted On

2018-02-28