Incidental Mutation 'R1421:Cspg4'
ID 159819
Institutional Source Beutler Lab
Gene Symbol Cspg4
Ensembl Gene ENSMUSG00000032911
Gene Name chondroitin sulfate proteoglycan 4
Synonyms Cspg4a, AN2, NG2, 4732461B14Rik
MMRRC Submission 039477-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1421 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 56772388-56807154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56803910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1667 (M1667K)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect probably benign
Transcript: ENSMUST00000035661
AA Change: M1667K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: M1667K

DomainStartEndE-ValueType
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: ENSMUST00000215666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217052
Meta Mutation Damage Score 0.0851 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.7%
Validation Efficiency 96% (54/56)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,520,923 (GRCm39) T1344A probably benign Het
Abcf1 G A 17: 36,271,801 (GRCm39) A375V probably damaging Het
Adam20 T A 8: 41,249,784 (GRCm39) H631Q possibly damaging Het
Adcy10 T C 1: 165,391,516 (GRCm39) S1258P probably damaging Het
Agtpbp1 A G 13: 59,643,389 (GRCm39) I717T possibly damaging Het
Ahnak T A 19: 8,992,995 (GRCm39) F4760I possibly damaging Het
Ano6 A G 15: 95,811,266 (GRCm39) K122R probably benign Het
Arhgap5 T C 12: 52,563,631 (GRCm39) C201R probably damaging Het
Atg16l1 T C 1: 87,714,080 (GRCm39) probably benign Het
Cdhr3 A T 12: 33,110,291 (GRCm39) I331K probably damaging Het
Coq8a A G 1: 179,998,006 (GRCm39) probably benign Het
Crebbp A G 16: 3,942,511 (GRCm39) V662A probably damaging Het
Dnah7a A G 1: 53,580,032 (GRCm39) probably benign Het
Dnajc6 A T 4: 101,468,513 (GRCm39) Y251F probably damaging Het
Dpy19l4 A T 4: 11,304,011 (GRCm39) M133K probably benign Het
Emb T C 13: 117,408,624 (GRCm39) Y322H probably benign Het
Gcm1 A T 9: 77,966,982 (GRCm39) H67L probably damaging Het
Gls2 A T 10: 128,037,217 (GRCm39) K253* probably null Het
Gm28042 T A 2: 119,866,944 (GRCm39) S196T probably benign Het
Gm43302 T C 5: 105,365,215 (GRCm39) T598A probably benign Het
Gramd1a T A 7: 30,842,291 (GRCm39) Q90L probably damaging Het
Grhl2 A G 15: 37,309,960 (GRCm39) Y352C probably damaging Het
Ifi203-ps T C 1: 173,625,563 (GRCm39) noncoding transcript Het
Ifitm2 T C 7: 140,534,972 (GRCm39) I121V probably benign Het
Insyn2a A T 7: 134,500,960 (GRCm39) probably benign Het
Kptn T G 7: 15,856,949 (GRCm39) probably benign Het
L2hgdh C T 12: 69,748,092 (GRCm39) D345N probably benign Het
Lgals12 T C 19: 7,584,079 (GRCm39) H6R probably benign Het
Lrrc4b A G 7: 44,110,475 (GRCm39) I116V probably benign Het
Misp A G 10: 79,662,681 (GRCm39) D366G probably damaging Het
Nav1 T C 1: 135,512,748 (GRCm39) E104G probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Parp1 T C 1: 180,427,653 (GRCm39) probably benign Het
Pikfyve G A 1: 65,310,470 (GRCm39) G1919D probably damaging Het
Pomt1 A G 2: 32,126,765 (GRCm39) probably benign Het
Prrc2b C T 2: 32,090,990 (GRCm39) S454F possibly damaging Het
Selenbp1 T C 3: 94,851,183 (GRCm39) S360P probably benign Het
Slc6a12 T A 6: 121,336,085 (GRCm39) I352N probably damaging Het
Snx9 G A 17: 5,952,759 (GRCm39) G197D probably benign Het
Ston1 T C 17: 88,943,221 (GRCm39) V209A probably benign Het
Taf7l2 A G 10: 115,949,343 (GRCm39) V61A probably damaging Het
Tex36 A T 7: 133,197,078 (GRCm39) probably null Het
Tnnt3 A G 7: 142,065,103 (GRCm39) E108G probably damaging Het
Vmn2r98 T A 17: 19,285,440 (GRCm39) F87I probably damaging Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Wdr64 T C 1: 175,594,716 (GRCm39) I479T possibly damaging Het
Xrcc5 A G 1: 72,349,636 (GRCm39) N22D probably benign Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp735 C A 11: 73,601,523 (GRCm39) L156I probably benign Het
Zfp820 A T 17: 22,038,861 (GRCm39) Y156N possibly damaging Het
Other mutations in Cspg4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- GGAGGCACCCACTTTAAATGGAGAC -3'
(R):5'- CACCTTTGTTCTTCCAGAGACGGC -3'

Sequencing Primer
(F):5'- AGCCATGTGATTCCCTAAGG -3'
(R):5'- TCCAGAGACGGCTGGGG -3'
Posted On 2014-03-14