Incidental Mutation 'R6351:Cspg4'
ID 514261
Institutional Source Beutler Lab
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 # R6351 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 56772388-56807154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56799928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1564 (D1564G)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect probably benign
Transcript: ENSMUST00000035661
AA Change: D1564G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: D1564G

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: ENSMUST00000214057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215666
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217052
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 99% (95/96)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a C A 9: 119,170,630 (GRCm39) S17* probably null Het
Adamts16 T A 13: 70,984,322 (GRCm39) S114C probably damaging Het
Agpat5 T C 8: 18,896,724 (GRCm39) V50A probably benign Het
Agrn T C 4: 156,263,891 (GRCm39) N124S probably benign Het
Ak8 T C 2: 28,625,638 (GRCm39) I227T probably benign Het
Akap6 A G 12: 53,188,808 (GRCm39) E2074G probably damaging Het
Apc T A 18: 34,445,265 (GRCm39) S702R probably damaging Het
Ascc3 T C 10: 50,596,769 (GRCm39) I1233T probably damaging Het
Asphd2 A T 5: 112,533,698 (GRCm39) F318I probably damaging Het
Bltp1 G A 3: 36,962,377 (GRCm39) A493T probably damaging Het
Bnc2 T C 4: 84,211,380 (GRCm39) T397A probably benign Het
Bpifb4 C T 2: 153,799,054 (GRCm39) T528I probably damaging Het
Brinp3 A G 1: 146,777,323 (GRCm39) E590G probably damaging Het
Ccdc149 A G 5: 52,542,477 (GRCm39) S372P probably benign Het
Cdhr2 A G 13: 54,874,589 (GRCm39) H887R probably benign Het
Clcn6 C T 4: 148,101,957 (GRCm39) V376I probably benign Het
Cntln T G 4: 85,033,591 (GRCm39) C1305W probably damaging Het
Cux1 A T 5: 136,338,646 (GRCm39) S582T probably damaging Het
Cwh43 G A 5: 73,569,248 (GRCm39) A97T possibly damaging Het
Dsc1 A T 18: 20,219,826 (GRCm39) F781L probably damaging Het
Dsc3 G T 18: 20,099,348 (GRCm39) H723N probably benign Het
Ear10 A T 14: 44,160,512 (GRCm39) V105D probably damaging Het
Ecel1 A G 1: 87,077,231 (GRCm39) V659A possibly damaging Het
Eogt A T 6: 97,097,155 (GRCm39) F316I probably damaging Het
Etaa1 T C 11: 17,897,188 (GRCm39) N310D possibly damaging Het
Exoc3l2 G A 7: 19,203,633 (GRCm39) R75Q possibly damaging Het
Fam186a A C 15: 99,839,623 (GRCm39) L2207R probably damaging Het
Fam187b T C 7: 30,677,024 (GRCm39) Y178H probably damaging Het
Fat1 A T 8: 45,486,532 (GRCm39) Q3362L probably damaging Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fsip2 G A 2: 82,823,028 (GRCm39) V6254I possibly damaging Het
Gabra5 T C 7: 57,063,528 (GRCm39) T299A probably damaging Het
Gbp11 T C 5: 105,475,464 (GRCm39) T295A probably benign Het
Glcci1 C T 6: 8,573,203 (GRCm39) Q44* probably null Het
Gpc5 A T 14: 115,636,612 (GRCm39) T432S probably benign Het
Grhl1 G A 12: 24,634,857 (GRCm39) E228K probably damaging Het
Hyal5 T C 6: 24,891,708 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints9 A G 14: 65,230,456 (GRCm39) I128V probably damaging Het
Kcnt2 A T 1: 140,302,850 (GRCm39) N130I probably damaging Het
Krba1 T C 6: 48,391,062 (GRCm39) V717A probably benign Het
Lrp12 T A 15: 39,741,584 (GRCm39) D377V probably damaging Het
Magi1 G T 6: 93,920,210 (GRCm39) D135E possibly damaging Het
Map10 T A 8: 126,397,984 (GRCm39) L459Q probably damaging Het
Mitf A G 6: 97,980,873 (GRCm39) D238G possibly damaging Het
Ms4a19 C T 19: 11,119,765 (GRCm39) G14D probably damaging Het
Mylk G T 16: 34,742,341 (GRCm39) R951L probably benign Het
Nacad T A 11: 6,549,235 (GRCm39) D1272V probably damaging Het
Nacad T A 11: 6,550,165 (GRCm39) K1009* probably null Het
Ncor1 T C 11: 62,264,124 (GRCm39) D786G probably benign Het
Oas2 G A 5: 120,886,603 (GRCm39) R188C probably benign Het
Odf2l A G 3: 144,841,479 (GRCm39) I300V probably benign Het
Or1j10 T A 2: 36,267,208 (GRCm39) V140D possibly damaging Het
Or51b17 A T 7: 103,542,342 (GRCm39) L200* probably null Het
Or51v8 A G 7: 103,320,163 (GRCm39) I25T possibly damaging Het
Or5p60 A G 7: 107,723,637 (GRCm39) S278P probably damaging Het
Or9i1 A G 19: 13,839,186 (GRCm39) T10A probably benign Het
Pes1 T A 11: 3,928,865 (GRCm39) D574E probably benign Het
Phf20 C T 2: 156,136,130 (GRCm39) R650C possibly damaging Het
Pias4 G A 10: 80,993,098 (GRCm39) T248I probably damaging Het
Pkhd1 T C 1: 20,282,175 (GRCm39) T2889A probably benign Het
Plcxd1 C A 5: 110,250,033 (GRCm39) probably null Het
Plekha7 A G 7: 115,776,133 (GRCm39) F194L probably damaging Het
Plxnb2 T C 15: 89,041,973 (GRCm39) N1642S possibly damaging Het
Pnpla7 A T 2: 24,901,576 (GRCm39) D534V probably damaging Het
Ppp2r5c A T 12: 110,521,313 (GRCm39) S279C probably damaging Het
Ptprq T A 10: 107,544,529 (GRCm39) T334S probably damaging Het
Rab39 T C 9: 53,597,821 (GRCm39) D148G probably benign Het
Reep3 A T 10: 66,870,432 (GRCm39) F121L probably benign Het
Reln G T 5: 22,106,661 (GRCm39) C3236* probably null Het
Rrp8 C T 7: 105,384,016 (GRCm39) C162Y probably damaging Het
Scrib C A 15: 75,936,835 (GRCm39) Q399H possibly damaging Het
Sertad1 T A 7: 27,189,224 (GRCm39) Y182N possibly damaging Het
Sfrp5 A G 19: 42,190,263 (GRCm39) V63A possibly damaging Het
Shoc1 T C 4: 59,069,317 (GRCm39) D703G probably benign Het
Slc46a1 T C 11: 78,357,985 (GRCm39) M346T probably benign Het
Sycp2 A G 2: 178,005,209 (GRCm39) L886S probably damaging Het
Teddm1b A T 1: 153,750,505 (GRCm39) I105F probably benign Het
Thumpd1 A T 7: 119,319,828 (GRCm39) I46N possibly damaging Het
Tmod4 A G 3: 95,035,164 (GRCm39) N223S probably damaging Het
Tnfrsf10b G C 14: 70,010,850 (GRCm39) C85S probably damaging Het
Tox T C 4: 6,697,439 (GRCm39) T455A probably benign Het
Tox T C 4: 6,741,536 (GRCm39) Q148R probably benign Het
Trp53bp1 A C 2: 121,100,426 (GRCm39) S109R probably damaging Het
Tshz2 A T 2: 169,726,888 (GRCm39) T26S probably benign Het
Tubb4a T A 17: 57,388,016 (GRCm39) N337Y probably damaging Het
Tubb6 T A 18: 67,534,458 (GRCm39) V119E probably damaging Het
Unk C T 11: 115,945,772 (GRCm39) T481I probably benign Het
Vmn2r112 C T 17: 22,820,259 (GRCm39) T44I probably benign Het
Vstm5 G A 9: 15,168,829 (GRCm39) G131D probably damaging Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp369 T A 13: 65,444,044 (GRCm39) S396T possibly damaging Het
Zfp932 T A 5: 110,157,209 (GRCm39) C302* probably null Het
Zfp972 A T 2: 177,548,728 (GRCm39) probably null Het
Zfyve21 C A 12: 111,794,028 (GRCm39) A212E probably benign 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
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
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'- CCCAGAAGACTTGGTCTACACC -3'
(R):5'- TTGACAGGAGCCCAGACAAG -3'

Sequencing Primer
(F):5'- GGTCTACACCATCGAGCAG -3'
(R):5'- AGACAAGGGTCCTGGGCTAC -3'
Posted On 2018-04-27