Incidental Mutation 'R5682:Cspg4'
ID 443127
Institutional Source Beutler Lab
Gene Symbol Cspg4
Ensembl Gene ENSMUSG00000032911
Gene Name chondroitin sulfate proteoglycan 4
Synonyms Cspg4a, AN2, NG2, 4732461B14Rik
MMRRC Submission 043318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5682 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 56772388-56807154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56793480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 405 (E405V)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect probably benign
Transcript: ENSMUST00000035661
AA Change: E405V

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: E405V

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
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.0%
  • 10x: 97.4%
  • 20x: 95.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,283,723 (GRCm39) S7T probably benign Het
Acot4 G A 12: 84,085,576 (GRCm39) V98M probably damaging Het
Acsm2 A T 7: 119,162,774 (GRCm39) N41I probably benign Het
Adamtsl3 A T 7: 82,255,758 (GRCm39) N1590I probably damaging Het
Ank3 G A 10: 69,729,347 (GRCm39) G714R probably damaging Het
Armh4 T C 14: 49,989,043 (GRCm39) D642G probably damaging Het
Ash1l G A 3: 88,914,914 (GRCm39) R1848Q probably damaging Het
Atp1a4 A T 1: 172,081,730 (GRCm39) Y141N probably damaging Het
Atxn3 A T 12: 101,924,406 (GRCm39) I1N probably damaging Het
Avil A C 10: 126,849,973 (GRCm39) Q608P probably damaging Het
Axin1 T C 17: 26,406,775 (GRCm39) V456A probably benign Het
Cacna1g A G 11: 94,349,940 (GRCm39) L635P probably damaging Het
Card11 G A 5: 140,888,666 (GRCm39) Q231* probably null Het
Ccdc162 G A 10: 41,432,799 (GRCm39) R500* probably null Het
Cdh24 T C 14: 54,874,805 (GRCm39) D400G probably damaging Het
Cep112 T C 11: 108,361,138 (GRCm39) L164P probably damaging Het
Corin A G 5: 72,579,497 (GRCm39) S224P possibly damaging Het
Csgalnact2 T C 6: 118,097,953 (GRCm39) Y371C probably damaging Het
Ctnna3 T A 10: 64,709,085 (GRCm39) M708K probably damaging Het
Cyp7a1 T A 4: 6,268,429 (GRCm39) Y432F probably benign Het
Dcaf11 T A 14: 55,800,883 (GRCm39) V113E probably damaging Het
Dhx29 T C 13: 113,067,383 (GRCm39) I88T probably damaging Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Elmo2 A G 2: 165,139,330 (GRCm39) F406L probably damaging Het
Eps15l1 G A 8: 73,125,592 (GRCm39) Q648* probably null Het
Fam171a1 G A 2: 3,227,126 (GRCm39) R753Q probably damaging Het
Figla T A 6: 85,995,604 (GRCm39) V86E probably damaging Het
Galnt7 C A 8: 58,036,967 (GRCm39) E141* probably null Het
Garnl3 A G 2: 32,944,185 (GRCm39) Y125H probably damaging Het
Gnb5 A G 9: 75,234,523 (GRCm39) D74G probably damaging Het
Grk1 A T 8: 13,464,351 (GRCm39) I408F possibly damaging Het
Has1 A T 17: 18,064,425 (GRCm39) W405R possibly damaging Het
Hdac5 A G 11: 102,104,749 (GRCm39) probably benign Het
Helq T A 5: 100,933,170 (GRCm39) M555L probably benign Het
Hipk2 T C 6: 38,714,408 (GRCm39) N556S possibly damaging Het
Htr7 C A 19: 35,947,271 (GRCm39) A248S probably damaging Het
Ing3 T C 6: 21,968,949 (GRCm39) S144P probably damaging Het
Itgb1 G A 8: 129,453,549 (GRCm39) probably null Het
Kcnh4 A T 11: 100,640,628 (GRCm39) M466K possibly damaging Het
Krit1 T A 5: 3,880,737 (GRCm39) N565K probably damaging Het
Limk1 A C 5: 134,694,059 (GRCm39) probably null Het
Lrif1 T C 3: 106,639,884 (GRCm39) I323T possibly damaging Het
Macf1 T C 4: 123,328,552 (GRCm39) E1811G probably damaging Het
Mctp2 A C 7: 71,895,207 (GRCm39) probably null Het
Mmp21 A G 7: 133,276,358 (GRCm39) I495T probably benign Het
Mpz A T 1: 170,986,463 (GRCm39) T126S possibly damaging Het
Napsa A G 7: 44,234,768 (GRCm39) Y301C possibly damaging Het
Ncbp1 T A 4: 46,170,474 (GRCm39) probably benign Het
Nup160 A G 2: 90,510,155 (GRCm39) E47G probably benign Het
Or8b56 A G 9: 38,739,424 (GRCm39) I146V probably benign Het
Pcdha11 A G 18: 37,144,502 (GRCm39) K198E probably damaging Het
Pcdha3 A G 18: 37,081,040 (GRCm39) D594G probably damaging Het
Pdcd5 G A 7: 35,346,613 (GRCm39) probably benign Het
Pdhx A T 2: 102,865,685 (GRCm39) S166T probably benign Het
Pigc A G 1: 161,798,516 (GRCm39) Y166C probably damaging Het
Prkch C T 12: 73,744,724 (GRCm39) H246Y probably damaging Het
Ptk2 A T 15: 73,134,413 (GRCm39) L562* probably null Het
Rab3ip C T 10: 116,743,008 (GRCm39) W439* probably null Het
Rasef T A 4: 73,659,208 (GRCm39) R435* probably null Het
Rnf103 C T 6: 71,485,708 (GRCm39) probably benign Het
Rtel1 T C 2: 180,991,765 (GRCm39) F388L probably benign Het
Sds A C 5: 120,621,784 (GRCm39) S309R possibly damaging Het
Sgip1 T A 4: 102,824,847 (GRCm39) D736E possibly damaging Het
Sgms2 A G 3: 131,118,611 (GRCm39) Y291H probably damaging Het
Sgsm3 A G 15: 80,895,661 (GRCm39) probably null Het
Siglec1 T A 2: 130,925,930 (GRCm39) I259F probably damaging Het
Sik2 G A 9: 50,828,382 (GRCm39) P220L probably damaging Het
Slc29a3 A G 10: 60,551,991 (GRCm39) V351A probably benign Het
Slc36a3 A G 11: 55,016,489 (GRCm39) S369P probably benign Het
Srgap1 A T 10: 121,640,919 (GRCm39) M649K probably damaging Het
Thnsl1 A G 2: 21,216,879 (GRCm39) E211G possibly damaging Het
Tmprss9 A G 10: 80,733,207 (GRCm39) probably null Het
Tpgs1 G A 10: 79,511,421 (GRCm39) V188M probably damaging Het
Vmn1r201 G T 13: 22,659,355 (GRCm39) V190F probably damaging Het
Vmn1r64 A T 7: 5,886,622 (GRCm39) L307Q possibly damaging Het
Wbp11 T C 6: 136,791,252 (GRCm39) probably benign Het
Wdr35 A G 12: 9,031,125 (GRCm39) Y134C probably damaging Het
Zan G T 5: 137,412,521 (GRCm39) C3263* probably null Het
Zc3h12c G T 9: 52,037,876 (GRCm39) D301E probably damaging Het
Zfp365 A C 10: 67,745,637 (GRCm39) L47R probably damaging Het
Zmym6 C T 4: 126,998,200 (GRCm39) P412L probably 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
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
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'- CAATATCTCCCTGGTAGGCTGC -3'
(R):5'- TCTAGCTCCAGGTCACCATG -3'

Sequencing Primer
(F):5'- TCCCTGGTAGGCTGCATAGAAG -3'
(R):5'- TGAACAGCACCTGGGACTTG -3'
Posted On 2016-11-09