Mutagenetix > Incidental Mutation

Incidental Mutation 'R4329:Cspg4'

324527

Institutional Source

Beutler Lab

Gene Symbol

Cspg4

Ensembl Gene

ENSMUSG00000032911

Gene Name

chondroitin sulfate proteoglycan 4

Synonyms

Cspg4a, AN2, NG2, 4732461B14Rik

MMRRC Submission

041663-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56772388-56807154 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56799749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1539 (F1539L)

Ref Sequence

ENSEMBL: ENSMUSP00000038909 (fasta)

Gene Model

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

AlphaFold

Q8VHY0

Predicted Effect

probably damaging
Transcript: ENSMUST00000035661
AA Change: F1539L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: F1539L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217052

Meta Mutation Damage Score

0.5276

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

96% (68/71)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	A	5: 113,243,455 (GRCm39)		probably null	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Ampd2	C	A	3: 107,985,103 (GRCm39)		probably benign	Het
Ang2	A	T	14: 51,433,325 (GRCm39)	I19N	possibly damaging	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
Cacna1s	A	C	1: 136,046,771 (GRCm39)	D1819A	probably benign	Het
Cand2	C	A	6: 115,776,949 (GRCm39)	H1112Q	possibly damaging	Het
Catsperd	T	A	17: 56,961,517 (GRCm39)	I413K	possibly damaging	Het
Ccdc142	T	A	6: 83,083,997 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Celsr3	C	T	9: 108,723,248 (GRCm39)	R2847C	probably benign	Het
Cep290	C	T	10: 100,373,530 (GRCm39)	S1270L	probably damaging	Het
Chka	T	C	19: 3,925,803 (GRCm39)		probably benign	Het
Cntnap5b	T	A	1: 99,999,888 (GRCm39)	D215E	probably damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Dchs1	A	T	7: 105,402,966 (GRCm39)	I3192N	probably damaging	Het
Dnah7c	T	A	1: 46,688,441 (GRCm39)	D1870E	probably benign	Het
Drc1	A	T	5: 30,513,002 (GRCm39)	I359L	probably benign	Het
Esp1	A	G	17: 41,039,768 (GRCm39)	M18V	probably benign	Het
Exoc1	T	A	5: 76,715,822 (GRCm39)	F789L	probably damaging	Het
Fbxw22	T	A	9: 109,213,111 (GRCm39)	T279S	probably damaging	Het
Frem1	G	A	4: 82,904,774 (GRCm39)	A880V	probably benign	Het
Gm29514	A	G	1: 146,296,429 (GRCm39)		noncoding transcript	Het
Grm7	T	C	6: 110,891,325 (GRCm39)	L186P	probably damaging	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Klk4	A	G	7: 43,533,830 (GRCm39)	D202G	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,861 (GRCm39)	Y808N	probably damaging	Het
Myom1	C	T	17: 71,343,348 (GRCm39)	L182F	probably damaging	Het
Nova1	A	T	12: 46,767,615 (GRCm39)	I102N	unknown	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Patl2	C	T	2: 121,958,018 (GRCm39)	S80N	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pkmyt1	T	A	17: 23,951,709 (GRCm39)	Y88N	probably damaging	Het
Pnkp	T	C	7: 44,508,018 (GRCm39)	S114P	probably benign	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Sema4d	T	C	13: 51,857,340 (GRCm39)	R631G	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Skint9	A	C	4: 112,249,062 (GRCm39)	L122R	probably damaging	Het
Slc16a13	T	C	11: 70,108,723 (GRCm39)	N369S	probably benign	Het
Strada	A	G	11: 106,077,999 (GRCm39)		probably benign	Het
Tnxb	C	A	17: 34,912,838 (GRCm39)	S1784Y	probably damaging	Het
Trpc2	T	C	7: 101,736,727 (GRCm39)	V318A	probably damaging	Het
Ttc3	G	A	16: 94,267,820 (GRCm39)	R1589H	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Unc5b	A	G	10: 60,618,969 (GRCm39)	Y58H	probably damaging	Het
Xylt1	G	A	7: 117,255,684 (GRCm39)	G752D	probably damaging	Het
Yipf7	A	T	5: 69,678,465 (GRCm39)	L55Q	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		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
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
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'- AATGTGGACAGGACTTTCACGG -3'
(R):5'- AATGTCCAGGAGAAGTGTGTGC -3'

Sequencing Primer
(F):5'- ACGGTCTGTGTCCCTAGATCTG -3'
(R):5'- GGTCGAAGTGGAAGCCTCCTTC -3'

Posted On

2015-06-24