Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03008:Cspg4'

407652

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 #

IGL03008

Quality Score

Status

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56805759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2190 (E2190G)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

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

AlphaFold

Q8VHY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000035661
AA Change: E2190G

PolyPhen 2 Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: E2190G

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: ENSMUST00000213195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217052

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aga	T	C	8: 53,964,861 (GRCm39)	S8P	probably benign	Het
Ankrd34c	C	T	9: 89,612,337 (GRCm39)	M1I	probably null	Het
Ankrd44	T	C	1: 54,805,968 (GRCm39)	H146R	probably damaging	Het
Bst1	A	G	5: 43,983,604 (GRCm39)		probably null	Het
Btbd8	T	G	5: 107,639,464 (GRCm39)		probably null	Het
Cdh12	A	T	15: 21,480,416 (GRCm39)	I211F	probably damaging	Het
Cenpj	G	T	14: 56,764,406 (GRCm39)	D1335E	probably benign	Het
Clpx	G	A	9: 65,230,057 (GRCm39)	V502I	possibly damaging	Het
Cntnap4	T	C	8: 113,500,222 (GRCm39)	S505P	probably benign	Het
Cog2	T	C	8: 125,262,131 (GRCm39)		probably benign	Het
Cped1	A	G	6: 22,233,601 (GRCm39)	Q819R	probably benign	Het
Ctsa	G	A	2: 164,679,368 (GRCm39)	R359Q	probably damaging	Het
Cul9	A	G	17: 46,813,623 (GRCm39)		probably benign	Het
Dab1	G	T	4: 104,584,777 (GRCm39)	V306F	probably damaging	Het
Dysf	A	G	6: 84,050,876 (GRCm39)	I438V	probably benign	Het
Eif4g3	G	T	4: 137,847,699 (GRCm39)	G380W	probably damaging	Het
Exd1	T	A	2: 119,350,862 (GRCm39)	K466N	probably benign	Het
Eya3	A	C	4: 132,434,294 (GRCm39)	D325A	probably damaging	Het
Fmn1	A	G	2: 113,195,445 (GRCm39)	T382A	unknown	Het
Fry	T	A	5: 150,269,021 (GRCm39)	D106E	possibly damaging	Het
Gm21957	T	A	7: 124,818,733 (GRCm39)		noncoding transcript	Het
Gm44511	A	G	6: 128,761,059 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,155,982 (GRCm39)	I983V	probably benign	Het
Lrpprc	A	T	17: 85,058,675 (GRCm39)	D5E	probably benign	Het
Lrrc37	T	C	11: 103,511,293 (GRCm39)	E225G	unknown	Het
Ltbp4	G	T	7: 27,023,789 (GRCm39)	N747K	probably damaging	Het
Minar1	A	G	9: 89,478,731 (GRCm39)	Y772H	probably damaging	Het
Mlh3	T	C	12: 85,287,625 (GRCm39)	Q1308R	probably benign	Het
Mtfr2	T	A	10: 20,229,185 (GRCm39)	C63S	possibly damaging	Het
Myh11	T	A	16: 14,022,617 (GRCm39)	M1661L	probably benign	Het
Myo1c	T	C	11: 75,549,240 (GRCm39)	M137T	probably benign	Het
Myocd	A	C	11: 65,078,392 (GRCm39)	L340V	probably damaging	Het
Napsa	A	T	7: 44,235,220 (GRCm39)	Q335L	possibly damaging	Het
Nlrp4b	C	A	7: 10,448,516 (GRCm39)	Q240K	probably benign	Het
Npepps	A	C	11: 97,128,984 (GRCm39)	F400C	probably damaging	Het
Nxpe4	A	T	9: 48,304,738 (GRCm39)	E275V	probably benign	Het
Ofd1	T	C	X: 165,192,530 (GRCm39)	D501G	probably benign	Het
Or13a19	T	C	7: 139,903,445 (GRCm39)	Y278H	probably damaging	Het
Or4f6	A	G	2: 111,838,868 (GRCm39)	I221T	possibly damaging	Het
Or5p79	T	G	7: 108,221,490 (GRCm39)	L157R	probably damaging	Het
Or8k41	A	T	2: 86,313,678 (GRCm39)	M136K	probably damaging	Het
P2ry1	A	T	3: 60,910,947 (GRCm39)	T29S	probably benign	Het
Papss1	T	C	3: 131,290,860 (GRCm39)	V201A	possibly damaging	Het
Paxip1	A	G	5: 27,957,764 (GRCm39)	V864A	probably benign	Het
Pcdhgc5	T	A	18: 37,954,887 (GRCm39)	H720Q	probably benign	Het
Pdxdc1	T	C	16: 13,694,023 (GRCm39)	N133S	possibly damaging	Het
Prkar1a	T	C	11: 109,544,690 (GRCm39)	I27T	probably damaging	Het
Rnf10	G	T	5: 115,389,355 (GRCm39)	H271N	possibly damaging	Het
Scn9a	A	G	2: 66,392,855 (GRCm39)	S246P	probably damaging	Het
Sertad2	G	T	11: 20,597,798 (GRCm39)		probably benign	Het
Slc22a27	A	G	19: 7,887,067 (GRCm39)	I274T	possibly damaging	Het
Slc22a5	A	T	11: 53,782,058 (GRCm39)	V103E	probably damaging	Het
Slc5a9	A	T	4: 111,748,138 (GRCm39)	F225I	probably benign	Het
Slc6a3	G	A	13: 73,706,404 (GRCm39)		probably null	Het
Smcr8	A	G	11: 60,669,287 (GRCm39)	E145G	probably damaging	Het
Spen	A	T	4: 141,203,448 (GRCm39)	D1726E	possibly damaging	Het
Sphkap	A	T	1: 83,254,552 (GRCm39)	S779T	probably damaging	Het
Stag1	A	T	9: 100,658,844 (GRCm39)	N144Y	probably damaging	Het
Strada	T	C	11: 106,061,783 (GRCm39)	H156R	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tas2r138	A	C	6: 40,590,116 (GRCm39)	D43E	probably damaging	Het
Tdpoz3	A	T	3: 93,733,642 (GRCm39)	K106*	probably null	Het
Trbv13-1	A	G	6: 41,093,229 (GRCm39)	D54G	probably damaging	Het
Ttc39b	A	G	4: 83,165,932 (GRCm39)	V218A	probably benign	Het
Ttn	G	A	2: 76,611,203 (GRCm39)	T15697I	probably damaging	Het
Ugt2b38	G	A	5: 87,560,282 (GRCm39)	T344I	probably benign	Het
Vmn2r94	T	C	17: 18,477,908 (GRCm39)	M168V	probably benign	Het
Wdr11	T	C	7: 129,208,715 (GRCm39)		probably benign	Het
Wipf2	T	C	11: 98,783,554 (GRCm39)		probably benign	Het
Zranb2	T	A	3: 157,252,302 (GRCm39)		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
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

2016-08-02