Incidental Mutation 'R5394:Cspg4'
ID 426058
Institutional Source Beutler Lab
Gene Symbol Cspg4
Ensembl Gene ENSMUSG00000032911
Gene Name chondroitin sulfate proteoglycan 4
Synonyms Cspg4a, AN2, NG2, 4732461B14Rik
MMRRC Submission 042966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5394 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 56772388-56807154 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56797484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1316 (E1316G)
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
AlphaFold Q8VHY0
Predicted Effect probably damaging
Transcript: ENSMUST00000035661
AA Change: E1316G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911
AA Change: E1316G

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
Meta Mutation Damage Score 0.1929 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 97% (96/99)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503B20Rik A G 3: 146,356,363 (GRCm39) F182L probably damaging Het
4930503B20Rik T C 3: 146,356,713 (GRCm39) Y65C probably damaging Het
4930590J08Rik A G 6: 91,896,174 (GRCm39) T341A probably benign Het
Adamts13 G A 2: 26,876,570 (GRCm39) V495I probably benign Het
Alms1 C A 6: 85,600,070 (GRCm39) T2101K probably benign Het
Als2 T C 1: 59,214,105 (GRCm39) D1361G probably benign Het
Ankdd1a A T 9: 65,412,496 (GRCm39) M275K probably benign Het
Arfip2 A T 7: 105,286,183 (GRCm39) Y161* probably null Het
Asap3 A T 4: 135,968,570 (GRCm39) E707D probably benign Het
Atm C T 9: 53,419,077 (GRCm39) probably null Het
Atp9b A T 18: 80,820,052 (GRCm39) S577R probably benign Het
Bltp1 G T 3: 36,971,817 (GRCm39) V517F probably damaging Het
Camk1d G C 2: 5,308,177 (GRCm39) D274E probably benign Het
Cebpz C T 17: 79,229,634 (GRCm39) D907N probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnst T A 1: 179,429,301 (GRCm39) probably benign Het
Cog2 G T 8: 125,259,268 (GRCm39) V196L probably benign Het
Col11a1 A G 3: 113,987,833 (GRCm39) probably null Het
Cops6 T A 5: 138,161,762 (GRCm39) probably null Het
Cwc22 G C 2: 77,759,683 (GRCm39) D122E possibly damaging Het
Dapk2 G A 9: 66,176,000 (GRCm39) V300M probably benign Het
Dcp1b C A 6: 119,152,328 (GRCm39) D25E probably damaging Het
Ddx10 A T 9: 53,145,157 (GRCm39) Y273* probably null Het
Dhx58 T C 11: 100,589,034 (GRCm39) E504G probably benign Het
Dync2h1 C T 9: 7,120,899 (GRCm39) W2129* probably null Het
Egr4 A T 6: 85,489,442 (GRCm39) L206Q probably damaging Het
Eif4g3 A G 4: 137,830,709 (GRCm39) probably null Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fpr-rs3 T G 17: 20,844,470 (GRCm39) M224L probably benign Het
Gm14325 G A 2: 177,474,777 (GRCm39) H102Y possibly damaging Het
Gxylt2 A G 6: 100,682,075 (GRCm39) K91E probably benign Het
Hecw1 A T 13: 14,497,174 (GRCm39) V278E probably damaging Het
Hydin A G 8: 111,266,474 (GRCm39) probably null Het
Iars1 T C 13: 49,875,641 (GRCm39) L776P probably damaging Het
Kcnh2 T A 5: 24,537,039 (GRCm39) T182S probably benign Het
Kplce T C 3: 92,776,005 (GRCm39) E226G probably damaging Het
Lats2 T G 14: 57,928,810 (GRCm39) S1022R probably benign Het
Lef1 C T 3: 130,988,308 (GRCm39) P264S probably damaging Het
Lyrm1 A C 7: 119,513,471 (GRCm39) I79L possibly damaging Het
Macroh2a2 G A 10: 61,587,466 (GRCm39) T156M possibly damaging Het
Man2b2 T G 5: 36,971,862 (GRCm39) Q618P probably benign Het
Mei1 T C 15: 81,976,957 (GRCm39) V180A possibly damaging Het
Mmp15 A T 8: 96,093,032 (GRCm39) N137I probably damaging Het
Mms22l A G 4: 24,517,115 (GRCm39) D222G possibly damaging Het
Mmut T A 17: 41,258,075 (GRCm39) S414T probably benign Het
Myo18a T C 11: 77,744,176 (GRCm39) M1846T probably benign Het
Neo1 A T 9: 58,897,517 (GRCm39) N146K probably benign Het
Nos3 A G 5: 24,588,888 (GRCm39) T1174A probably benign Het
Or10d4b A T 9: 39,534,430 (GRCm39) T4S probably benign Het
Or10x1 T C 1: 174,196,836 (GRCm39) Y118H probably damaging Het
Or4c125 A T 2: 89,169,806 (GRCm39) I280N probably damaging Het
Or51f1 A T 7: 102,505,686 (GRCm39) S268T probably damaging Het
Pax8 A T 2: 24,332,922 (GRCm39) probably benign Het
Pde5a G A 3: 122,611,658 (GRCm39) C532Y probably damaging Het
Pigq T C 17: 26,150,446 (GRCm39) D442G possibly damaging Het
Pik3c2g T C 6: 139,665,808 (GRCm39) V43A probably benign Het
Pik3cb T C 9: 98,970,716 (GRCm39) N325S probably benign Het
Pot1b T C 17: 56,007,063 (GRCm39) K18R probably benign Het
Ppp1r42 A T 1: 10,069,630 (GRCm39) L144Q probably damaging Het
Prdm13 T A 4: 21,679,455 (GRCm39) Q345L unknown Het
Pyroxd2 T A 19: 42,728,898 (GRCm39) K167N probably benign Het
Rnf123 T C 9: 107,947,930 (GRCm39) Y131C probably damaging Het
Rnf25 T C 1: 74,634,411 (GRCm39) D204G probably damaging Het
Rpf2 G A 10: 40,109,181 (GRCm39) T60I possibly damaging Het
Scaf11 T C 15: 96,317,339 (GRCm39) N742D probably benign Het
Shank1 G A 7: 44,002,075 (GRCm39) D1257N possibly damaging Het
Shc2 A G 10: 79,465,933 (GRCm39) V168A probably damaging Het
Slc16a4 G A 3: 107,199,758 (GRCm39) V2M probably benign Het
Slc24a3 T C 2: 145,455,494 (GRCm39) V461A probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slc4a4 T A 5: 89,345,623 (GRCm39) probably null Het
Snx30 T A 4: 59,879,329 (GRCm39) D189E probably benign Het
Sspo A G 6: 48,472,194 (GRCm39) Q4653R possibly damaging Het
Tpte G T 8: 22,817,806 (GRCm39) R264I probably damaging Het
Tsc22d4 T A 5: 137,757,036 (GRCm39) probably benign Het
Ubn1 T C 16: 4,892,233 (GRCm39) L585P possibly damaging Het
Usp24 A T 4: 106,265,210 (GRCm39) D1781V probably damaging Het
Utp20 A T 10: 88,608,777 (GRCm39) Y1514* probably null Het
Vmn1r55 A T 7: 5,149,995 (GRCm39) Y143N probably damaging Het
Vmn2r65 A G 7: 84,595,862 (GRCm39) V274A probably benign Het
Wdr17 A G 8: 55,092,524 (GRCm39) S1087P possibly damaging Het
Wnt5b C A 6: 119,417,283 (GRCm39) R156L probably damaging Het
Zan T C 5: 137,433,896 (GRCm39) D2279G unknown Het
Zan T C 5: 137,462,336 (GRCm39) T948A unknown Het
Zfp758 T C 17: 22,591,049 (GRCm39) S4P probably damaging Het
Zfp839 A G 12: 110,822,020 (GRCm39) E278G probably benign Het
Zfp994 T A 17: 22,419,506 (GRCm39) H481L probably damaging Het
Zswim9 G A 7: 12,994,909 (GRCm39) R416C 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
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'- GCAAAGCATTAGCCACACGTG -3'
(R):5'- GGGAACGCTGAAGTTTTGAACATC -3'

Sequencing Primer
(F):5'- TGAGGTCCACAACAGCCTGTG -3'
(R):5'- CGCTGAAGTTTTGAACATCCAGGG -3'
Posted On 2016-08-04