Incidental Mutation 'R9154:Cspg4'
ID 695254
Institutional Source Beutler Lab
Gene Symbol Cspg4
Ensembl Gene ENSMUSG00000032911
Gene Name chondroitin sulfate proteoglycan 4
Synonyms Cspg4a, AN2, NG2, 4732461B14Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9154 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 56772388-56807154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56798287 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 1434 (L1434Q)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: L1434Q

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,926,926 (GRCm39) V862A probably benign Het
A2m A T 6: 121,645,512 (GRCm39) K1019M probably damaging Het
Acot6 G T 12: 84,147,789 (GRCm39) W15L possibly damaging Het
Adam32 CCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAG 8: 25,438,769 (GRCm39) probably benign Het
Adnp C A 2: 168,026,580 (GRCm39) Q238H possibly damaging Het
Akap7 T C 10: 25,047,053 (GRCm39) Y281C probably damaging Het
Ank1 A G 8: 23,605,387 (GRCm39) E1085G probably damaging Het
Arhgef38 A T 3: 132,837,924 (GRCm39) S669T unknown Het
Atp8b2 A T 3: 89,865,927 (GRCm39) S50R possibly damaging Het
Atp8b5 T C 4: 43,372,630 (GRCm39) I1090T probably benign Het
Ccdc198 A T 14: 49,473,367 (GRCm39) H129Q probably benign Het
Chrna4 G A 2: 180,670,602 (GRCm39) R385C probably damaging Het
Col4a1 T A 8: 11,267,446 (GRCm39) I1105F probably damaging Het
Crybg2 G A 4: 133,792,620 (GRCm39) R85Q probably benign Het
Cyp3a13 T C 5: 137,919,758 (GRCm39) N6S probably benign Het
Dnase2b A T 3: 146,299,326 (GRCm39) Y42* probably null Het
F11r A G 1: 171,289,376 (GRCm39) E233G probably damaging Het
Fip1l1 T C 5: 74,747,703 (GRCm39) I390T possibly damaging Het
Fiz1 G A 7: 5,011,280 (GRCm39) R413C probably damaging Het
Fus G A 7: 127,580,440 (GRCm39) G450E unknown Het
Gm11569 C A 11: 99,689,267 (GRCm39) C144F unknown Het
Gm7298 A T 6: 121,756,436 (GRCm39) Y1027F probably damaging Het
Grik5 C A 7: 24,758,403 (GRCm39) W340L probably damaging Het
H1f2 A G 13: 23,923,373 (GRCm39) K181R unknown Het
Hectd4 G A 5: 121,391,967 (GRCm39) R77H Het
Ift81 C A 5: 122,689,122 (GRCm39) V665L probably benign Het
Ints2 A G 11: 86,125,524 (GRCm39) F559L probably damaging Het
Kdm8 G A 7: 125,054,296 (GRCm39) V176I probably benign Het
Keap1 A T 9: 21,142,121 (GRCm39) Y584* probably null Het
Klra1 T C 6: 130,357,607 (GRCm39) T7A Het
Lmo7 T A 14: 102,122,743 (GRCm39) W311R probably damaging Het
Lrp6 A G 6: 134,518,855 (GRCm39) V70A probably damaging Het
Luc7l3 A T 11: 94,190,793 (GRCm39) S174T unknown Het
Madd T C 2: 90,998,162 (GRCm39) T653A probably damaging Het
Mlph G T 1: 90,855,716 (GRCm39) G41V probably damaging Het
Mov10l1 A G 15: 88,896,118 (GRCm39) E654G possibly damaging Het
Mpp3 T C 11: 101,911,328 (GRCm39) I165V Het
Mrgpra2a T G 7: 47,076,394 (GRCm39) Y288S probably damaging Het
Mroh9 T A 1: 162,890,030 (GRCm39) M236L Het
Muc5b A C 7: 141,417,974 (GRCm39) K3640T probably damaging Het
Myh13 A G 11: 67,253,318 (GRCm39) I1485V probably benign Het
Nf2 A T 11: 4,744,873 (GRCm39) F285L probably damaging Het
Nfx1 T A 4: 40,990,845 (GRCm39) C471S probably damaging Het
Nsd1 C T 13: 55,361,253 (GRCm39) R74W probably damaging Het
Nudt16l1 A T 16: 4,758,281 (GRCm39) *212C probably null Het
Oaf T C 9: 43,133,992 (GRCm39) Y243C probably damaging Het
Or51e1 T C 7: 102,358,541 (GRCm39) V25A probably benign Het
Or6c3 T C 10: 129,308,690 (GRCm39) I43T probably benign Het
Or7g30 T A 9: 19,352,531 (GRCm39) F107L probably benign Het
Or7h8 A G 9: 20,124,173 (GRCm39) H176R possibly damaging Het
Or8b36 T A 9: 37,937,690 (GRCm39) L196* probably null Het
Parp9 T C 16: 35,768,543 (GRCm39) I241T probably damaging Het
Phlpp2 G T 8: 110,666,590 (GRCm39) A1040S possibly damaging Het
Pon2 A T 6: 5,265,391 (GRCm39) V332E possibly damaging Het
Ptprc A G 1: 138,016,302 (GRCm39) V544A probably damaging Het
Rfx6 A G 10: 51,597,600 (GRCm39) S446G probably benign Het
Rnf103 T A 6: 71,487,099 (GRCm39) C577S probably benign Het
Ros1 T G 10: 51,922,301 (GRCm39) E2278D possibly damaging Het
Rpl37 A G 15: 5,147,109 (GRCm39) S50G probably benign Het
Rrad C T 8: 105,355,343 (GRCm39) V222M possibly damaging Het
Ryr1 T C 7: 28,769,283 (GRCm39) T2770A probably benign Het
Secisbp2l G A 2: 125,617,623 (GRCm39) P18L probably damaging Het
Septin2 T A 1: 93,429,310 (GRCm39) W260R probably damaging Het
Slc35c2 A G 2: 165,122,797 (GRCm39) M117T probably benign Het
Slc44a5 A G 3: 153,953,373 (GRCm39) T252A probably benign Het
Speer4f2 T A 5: 17,581,610 (GRCm39) L184Q Het
Sphkap C G 1: 83,234,982 (GRCm39) V1615L probably damaging Het
Sult2a3 C T 7: 13,806,981 (GRCm39) V234I probably benign Het
Tanc1 T C 2: 59,630,132 (GRCm39) L704P probably damaging Het
Tas2r126 T C 6: 42,412,174 (GRCm39) S236P probably benign Het
Tnik A G 3: 28,704,235 (GRCm39) I1020V probably damaging Het
Tomm5 T C 4: 45,106,724 (GRCm39) Q64R unknown Het
Ttll13 A G 7: 79,897,182 (GRCm39) E16G probably benign Het
Vmn1r21 C A 6: 57,821,348 (GRCm39) C32F probably benign Het
Vmn2r51 T A 7: 9,839,480 (GRCm39) D36V probably damaging Het
Vmn2r63 C T 7: 42,576,413 (GRCm39) D467N probably damaging Het
Vwce A G 19: 10,625,850 (GRCm39) N454S possibly damaging Het
Wfdc1 A C 8: 120,406,116 (GRCm39) D77A Het
Yme1l1 T A 2: 23,077,815 (GRCm39) I419N probably damaging Het
Zfp106 G A 2: 120,364,812 (GRCm39) Q555* probably null Het
Zfp773 A C 7: 7,138,302 (GRCm39) M111R probably damaging Het
Zmat3 G A 3: 32,397,767 (GRCm39) A165V 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
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
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'- GTCTTCCCCTGAGAAATGGAAACG -3'
(R):5'- CACTTGCAGGCCTGTGTTTG -3'

Sequencing Primer
(F):5'- AATTGAACTCAGGACCTCTGG -3'
(R):5'- CCTGTGTTTGTGGTGAGAACAG -3'
Posted On 2022-01-20