Mutagenetix > Incidental Mutation

Incidental Mutation 'R0602:Cspg4'

55491

Institutional Source

Beutler Lab

Gene Symbol

Cspg4

Ensembl Gene

ENSMUSG00000032911

Gene Name

chondroitin sulfate proteoglycan 4

Synonyms

Cspg4a, AN2, NG2, 4732461B14Rik

MMRRC Submission

038791-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0602 (G1)

Quality Score

206

Status

Validated

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56795301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1012 (F1012S)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

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

AlphaFold

Q8VHY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035661
AA Change: F1012S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: F1012S

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

0.5670

Coding Region Coverage

1x: 99.6%
3x: 99.1%
10x: 97.5%
20x: 94.7%

Validation Efficiency

95% (58/61)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,978,090 (GRCm39)		probably benign	Het
Arih1	A	G	9: 59,302,154 (GRCm39)		probably benign	Het
Bcl9	T	C	3: 97,113,102 (GRCm39)	I1118V	probably benign	Het
Cap1	T	C	4: 122,766,202 (GRCm39)	E12G	probably damaging	Het
Ccdc168	T	A	1: 44,099,127 (GRCm39)	K657I	possibly damaging	Het
Ccr2	A	G	9: 123,906,658 (GRCm39)	I313V	probably benign	Het
Cd1d2	T	C	3: 86,895,110 (GRCm39)	S161P	probably benign	Het
Cd226	C	T	18: 89,287,135 (GRCm39)	T311I	probably benign	Het
Col25a1	A	G	3: 130,369,063 (GRCm39)		probably null	Het
Dnah7b	A	G	1: 46,364,002 (GRCm39)	M3541V	probably damaging	Het
Erbb2	G	A	11: 98,325,097 (GRCm39)	V852M	probably damaging	Het
Fer1l6	A	C	15: 58,449,794 (GRCm39)	T667P	probably damaging	Het
Gal3st2c	A	G	1: 93,936,901 (GRCm39)	Y282C	probably damaging	Het
Glp1r	T	C	17: 31,128,201 (GRCm39)	L60P	probably benign	Het
Gtf2h2	A	G	13: 100,605,533 (GRCm39)	V358A	probably benign	Het
H2ac18	T	C	3: 96,152,866 (GRCm39)		probably benign	Het
Hephl1	T	A	9: 15,000,347 (GRCm39)	I302F	probably damaging	Het
Lgi2	T	C	5: 52,711,765 (GRCm39)	D185G	probably damaging	Het
Lrtm1	T	C	14: 28,744,179 (GRCm39)		probably benign	Het
Megf10	T	G	18: 57,395,172 (GRCm39)	D511E	probably damaging	Het
Myo5c	A	G	9: 75,173,478 (GRCm39)		probably null	Het
Nrbf2	G	A	10: 67,103,605 (GRCm39)	T166M	probably damaging	Het
Nrm	C	A	17: 36,175,156 (GRCm39)	Y61*	probably null	Het
Ola1	A	G	2: 72,924,056 (GRCm39)	Y368H	probably damaging	Het
Or52s1	A	C	7: 102,861,787 (GRCm39)	H229P	possibly damaging	Het
Or9i1b	A	G	19: 13,897,145 (GRCm39)	T254A	probably benign	Het
Or9q2	T	C	19: 13,772,026 (GRCm39)		probably null	Het
Panx1	A	G	9: 14,921,500 (GRCm39)	L125P	probably damaging	Het
Pappa2	A	G	1: 158,590,625 (GRCm39)		probably benign	Het
Parp6	A	G	9: 59,556,648 (GRCm39)		probably benign	Het
Pomgnt2	A	G	9: 121,811,339 (GRCm39)	Y481H	probably benign	Het
Ppp4c	A	G	7: 126,388,254 (GRCm39)		probably benign	Het
Prl8a8	T	A	13: 27,692,533 (GRCm39)		probably benign	Het
Prpf40b	C	A	15: 99,202,352 (GRCm39)	A70E	unknown	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Ptprc	C	T	1: 138,017,223 (GRCm39)		probably benign	Het
Rgs22	T	C	15: 36,140,018 (GRCm39)		probably benign	Het
Rpgrip1	A	G	14: 52,371,313 (GRCm39)	E344G	possibly damaging	Het
Sgca	A	T	11: 94,854,061 (GRCm39)	I383N	possibly damaging	Het
Sgms2	T	A	3: 131,118,756 (GRCm39)		probably null	Het
Slc9b1	C	A	3: 135,103,516 (GRCm39)	Q549K	probably benign	Het
Smc4	G	C	3: 68,916,871 (GRCm39)	A187P	probably damaging	Het
Smco1	A	G	16: 32,092,062 (GRCm39)	S47G	probably damaging	Het
Sobp	T	A	10: 42,898,385 (GRCm39)	E400V	probably damaging	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Stil	T	A	4: 114,881,620 (GRCm39)		probably benign	Het
Sult3a2	A	T	10: 33,658,044 (GRCm39)	M23K	probably benign	Het
Syne2	AGAGTGAG	AGAGTGAGTGAG	12: 76,144,734 (GRCm39)		probably null	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tcof1	C	A	18: 60,966,605 (GRCm39)	G329W	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Vmn1r171	G	T	7: 23,332,602 (GRCm39)	V276L	probably benign	Het
Vps13b	T	C	15: 35,422,514 (GRCm39)	L158P	probably damaging	Het
Vps54	A	G	11: 21,256,434 (GRCm39)	I634M	possibly damaging	Het
Vwa8	T	G	14: 79,258,060 (GRCm39)	S736R	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCACCTCTTCGTCAAGAGTCTCAAC -3'
(R):5'- TCCTCCATAGCCACAATGCTGC -3'

Sequencing Primer
(F):5'- AGCGCCAGCTATCTCTATGAG -3'
(R):5'- CTGCCAAAGAGGAGGTCCTTG -3'

Posted On

2013-07-11