Incidental Mutation 'R9608:Cspg4'
ID 724026
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 # R9608 (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 56792836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 190 (H190Q)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect probably benign
Transcript: ENSMUST00000035661
AA Change: H190Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: H190Q

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: 99.6%
  • 20x: 98.9%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 T A 19: 55,272,884 (GRCm39) I333N probably damaging Het
Adam2 T C 14: 66,291,279 (GRCm39) N333S probably null Het
Adgrb2 A G 4: 129,907,352 (GRCm39) T955A probably damaging Het
Agxt2 T C 15: 10,400,624 (GRCm39) F476S possibly damaging Het
Asb14 T A 14: 26,634,148 (GRCm39) F451Y probably damaging Het
Atg9a A T 1: 75,161,739 (GRCm39) N602K possibly damaging Het
Atp2a3 T C 11: 72,879,866 (GRCm39) I978T probably benign Het
BC034090 A G 1: 155,099,135 (GRCm39) V550A possibly damaging Het
Bud23 T A 5: 135,086,526 (GRCm39) probably null Het
C1qtnf3 A T 15: 10,952,568 (GRCm39) H10L probably benign Het
Cage1 G C 13: 38,195,371 (GRCm39) I783M possibly damaging Het
Ccdc142 C T 6: 83,084,082 (GRCm39) Q496* probably null Het
Cd163 A C 6: 124,286,163 (GRCm39) K238Q possibly damaging Het
Cdh6 A T 15: 13,064,621 (GRCm39) Y90N probably damaging Het
Cpeb1 A G 7: 81,021,758 (GRCm39) probably null Het
Cpt2 G T 4: 107,765,341 (GRCm39) P141Q probably damaging Het
Dcst1 T C 3: 89,266,442 (GRCm39) M139V possibly damaging Het
Dennd5a G C 7: 109,520,713 (GRCm39) N381K probably damaging Het
Dera A G 6: 137,813,876 (GRCm39) R299G possibly damaging Het
Dnah2 C T 11: 69,344,888 (GRCm39) G2729R probably null Het
Dnajc11 A G 4: 152,034,978 (GRCm39) E67G possibly damaging Het
Eif2ak3 T A 6: 70,841,511 (GRCm39) C152* probably null Het
Eln T G 5: 134,755,331 (GRCm39) K241Q unknown Het
Exoc6b C T 6: 84,602,106 (GRCm39) probably null Het
Eya1 A T 1: 14,373,029 (GRCm39) I30K probably benign Het
Fbxo39 A G 11: 72,208,101 (GRCm39) K151R probably benign Het
Fer A G 17: 64,214,327 (GRCm39) T87A probably benign Het
Fgf4 A T 7: 144,415,335 (GRCm39) N32Y possibly damaging Het
Fkbp6 G A 5: 135,375,027 (GRCm39) P129S probably damaging Het
Fndc7 C A 3: 108,774,597 (GRCm39) V554F probably damaging Het
Frk G A 10: 34,481,873 (GRCm39) probably null Het
Ghrhr T A 6: 55,357,786 (GRCm39) I139N possibly damaging Het
Gm17175 A T 14: 51,809,099 (GRCm39) M89K probably damaging Het
Gm4787 A T 12: 81,425,086 (GRCm39) N357K probably benign Het
Gpihbp1 G A 15: 75,469,612 (GRCm39) C109Y probably damaging Het
Gps1 T C 11: 120,677,641 (GRCm39) V257A probably benign Het
H2-M3 T C 17: 37,581,159 (GRCm39) S3P probably benign Het
Hmcn1 G A 1: 150,475,303 (GRCm39) P4674L probably damaging Het
Hoxa11 T C 6: 52,222,224 (GRCm39) D159G probably benign Het
Kcnn4 G A 7: 24,083,503 (GRCm39) D395N probably damaging Het
Krt222 T C 11: 99,126,981 (GRCm39) E213G probably damaging Het
Lmcd1 A G 6: 112,306,785 (GRCm39) D319G possibly damaging Het
Ltv1 A G 10: 13,066,440 (GRCm39) F62S probably damaging Het
Man2a1 G T 17: 65,041,953 (GRCm39) R957L probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mrpl45 T G 11: 97,217,687 (GRCm39) V197G probably damaging Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nek4 T C 14: 30,675,904 (GRCm39) Y73H probably damaging Het
Nom1 T A 5: 29,642,750 (GRCm39) V417D probably damaging Het
Or10q1b A T 19: 13,682,868 (GRCm39) I226F probably damaging Het
Or4k5 A G 14: 50,386,055 (GRCm39) I92T probably benign Het
Or5p68 A G 7: 107,945,513 (GRCm39) L225P probably damaging Het
Pacs1 A G 19: 5,193,862 (GRCm39) S556P probably damaging Het
Pcdh1 C T 18: 38,330,904 (GRCm39) V839M possibly damaging Het
Pcdhb18 T A 18: 37,623,694 (GRCm39) N341K probably damaging Het
Pde6d G A 1: 86,473,424 (GRCm39) T124M possibly damaging Het
Piezo2 T A 18: 63,280,016 (GRCm39) E185V probably benign Het
Pkhd1l1 T C 15: 44,442,029 (GRCm39) V3656A possibly damaging Het
Plcg1 A G 2: 160,597,671 (GRCm39) Y771C probably benign Het
Ppdpf T C 2: 180,829,668 (GRCm39) L41P probably benign Het
Prepl T C 17: 85,376,321 (GRCm39) T578A probably benign Het
Prkdc C A 16: 15,548,334 (GRCm39) L1981M possibly damaging Het
Prkdc T A 16: 15,548,335 (GRCm39) L1981Q probably damaging Het
Rb1cc1 C T 1: 6,318,528 (GRCm39) S649L probably benign Het
Rbbp6 A G 7: 122,591,268 (GRCm39) T457A possibly damaging Het
Sbf1 T A 15: 89,191,808 (GRCm39) probably null Het
Scn1a T C 2: 66,152,687 (GRCm39) I776V probably benign Het
Sec23a G A 12: 59,019,804 (GRCm39) P588S probably benign Het
Slfn5 A G 11: 82,851,830 (GRCm39) D652G possibly damaging Het
Slfn5 C A 11: 82,852,321 (GRCm39) P816T probably benign Het
Smarcad1 C T 6: 65,091,318 (GRCm39) T1013I probably damaging Het
Spidr G A 16: 15,855,474 (GRCm39) T347I probably benign Het
Stx1b A T 7: 127,406,551 (GRCm39) M266K probably damaging Het
Tarm1 A G 7: 3,551,062 (GRCm39) probably benign Het
Tfap2c A T 2: 172,391,764 (GRCm39) K4* probably null Het
Trpm5 A T 7: 142,633,148 (GRCm39) V819E possibly damaging Het
Trrap A G 5: 144,780,128 (GRCm39) T3240A possibly damaging Het
Uqcc2 A T 17: 27,341,709 (GRCm39) V130D probably benign Het
Uspl1 T A 5: 149,151,870 (GRCm39) D1023E probably benign Het
Vinac1 C T 2: 128,878,550 (GRCm39) W1125* probably null Het
Vmn2r28 A T 7: 5,491,220 (GRCm39) H342Q probably benign Het
Vmn2r33 A T 7: 7,557,153 (GRCm39) C516S possibly damaging Het
Vps45 G A 3: 95,940,982 (GRCm39) R420W probably damaging Het
Zfp42 C T 8: 43,749,172 (GRCm39) V110I possibly damaging Het
Zfp467 T A 6: 48,404,776 (GRCm39) K100N unknown Het
Zfyve16 A T 13: 92,636,788 (GRCm39) S1307R 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
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
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'- GTGTTGAACACCTCTGCTCC -3'
(R):5'- CGCAAGTGGCCCTCAAATATG -3'

Sequencing Primer
(F):5'- TCTGCTCCCATCCCAAGAG -3'
(R):5'- GTAGATAAAGTTGCCACGCTTGTCC -3'
Posted On 2022-09-12