Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02692:Cspg4'

303802

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cspg4

Ensembl Gene

ENSMUSG00000032911

Gene Name

chondroitin sulfate proteoglycan 4

Synonyms

Cspg4a, AN2, NG2, 4732461B14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02692

Quality Score

Status

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56794738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 824 (H824Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

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

AlphaFold

Q8VHY0

Predicted Effect

probably benign
Transcript: ENSMUST00000035661
AA Change: H824Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: H824Q

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

Coding Region Coverage

Validation Efficiency

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	C	10: 100,439,410 (GRCm39)	S72R	probably benign	Het
4930544G11Rik	T	C	6: 65,929,792 (GRCm39)	V9A	probably damaging	Het
Actl11	A	G	9: 107,806,507 (GRCm39)	N277D	probably benign	Het
Adam2	T	A	14: 66,311,536 (GRCm39)	I57F	probably damaging	Het
Adgrf1	T	C	17: 43,614,669 (GRCm39)	F251S	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,089 (GRCm39)	I64V	probably benign	Het
Anapc4	T	C	5: 53,021,871 (GRCm39)	V651A	probably damaging	Het
Atl2	T	C	17: 80,172,482 (GRCm39)	N163D	probably benign	Het
B4galnt3	G	A	6: 120,187,272 (GRCm39)	R708C	probably damaging	Het
Capza2	C	T	6: 17,654,115 (GRCm39)	Q56*	probably null	Het
Dock7	G	A	4: 98,875,623 (GRCm39)	P1106S	probably damaging	Het
Fat4	A	G	3: 39,005,235 (GRCm39)	Y1878C	probably damaging	Het
Grk2	A	T	19: 4,340,716 (GRCm39)		probably benign	Het
Lmbrd2	G	A	15: 9,149,155 (GRCm39)	V13I	possibly damaging	Het
Loxhd1	G	T	18: 77,444,609 (GRCm39)	C336F	probably damaging	Het
Morc1	T	A	16: 48,330,596 (GRCm39)	F355L	probably null	Het
Mov10	C	A	3: 104,708,119 (GRCm39)	E503*	probably null	Het
Nt5dc3	T	A	10: 86,640,642 (GRCm39)		probably null	Het
Or2w3b	A	G	11: 58,623,343 (GRCm39)	V216A	probably benign	Het
Phf20	T	A	2: 156,140,498 (GRCm39)	M724K	probably damaging	Het
Pla2g2e	G	T	4: 138,609,870 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,880,989 (GRCm39)	V772E	probably damaging	Het
Rhoh	A	G	5: 66,050,143 (GRCm39)	R138G	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Septin7	A	G	9: 25,207,786 (GRCm39)		probably benign	Het
Serpina9	A	C	12: 103,974,665 (GRCm39)	F163V	probably damaging	Het
Slc2a13	A	T	15: 91,205,861 (GRCm39)	F442Y	probably benign	Het
Slc34a1	G	A	13: 55,551,049 (GRCm39)		probably benign	Het
Slc6a11	T	C	6: 114,139,100 (GRCm39)	F236S	probably damaging	Het
Usp1	A	G	4: 98,817,197 (GRCm39)	K130E	probably benign	Het
Zfp386	A	G	12: 116,022,855 (GRCm39)	E156G	probably damaging	Het
Zfp957	C	T	14: 79,450,825 (GRCm39)	V325I	unknown	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
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
R6239:Cspg4	UTSW	9	56,795,466 (GRCm39)	missense	probably benign	0.04
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

Posted On

2015-04-16