Incidental Mutation 'IGL02379:Cspg4'
ID291316
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cspg4
Ensembl Gene ENSMUSG00000032911
Gene Namechondroitin sulfate proteoglycan 4
SynonymsAN2, 4732461B14Rik, NG2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02379
Quality Score
Status
Chromosome9
Chromosomal Location56865033-56899870 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 56892609 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038909 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035661]
Predicted Effect probably benign
Transcript: ENSMUST00000035661
SMART Domains Protein: ENSMUSP00000038909
Gene: ENSMUSG00000032911

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
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,622,043 I996F probably damaging Het
Adamts9 T A 6: 92,797,033 D1133V probably damaging Het
Adi1 T A 12: 28,679,467 D106E probably damaging Het
Agl A G 3: 116,779,091 F837S probably damaging Het
Alb T A 5: 90,465,879 D207E probably benign Het
Alms1 T G 6: 85,629,633 V2286G probably damaging Het
Alpl G A 4: 137,742,558 A485V probably damaging Het
Antxrl C A 14: 34,056,535 probably null Het
Apc C T 18: 34,298,745 T417I probably benign Het
Ash2l T C 8: 25,822,771 D390G probably damaging Het
Asph G A 4: 9,474,980 P582S probably damaging Het
Bcr T A 10: 75,157,148 L825Q probably benign Het
Bhlha15 T A 5: 144,191,341 N90K probably damaging Het
Cgnl1 T A 9: 71,645,553 Y1043F possibly damaging Het
Chek1 T C 9: 36,723,946 D47G probably benign Het
Clca4b T A 3: 144,921,858 M451L probably benign Het
Csnk1g3 T C 18: 53,933,492 S346P probably benign Het
Ctr9 A G 7: 111,051,519 K884E probably damaging Het
Cyld T A 8: 88,744,928 C813* probably null Het
Fn3k A T 11: 121,435,124 T46S probably benign Het
Foxred1 T C 9: 35,209,986 R89G probably benign Het
Gpr174 T C X: 107,293,478 F299L probably damaging Het
Hdac7 T C 15: 97,808,385 D312G probably damaging Het
Il1f8 A G 2: 24,154,638 S17G probably benign Het
Kcna5 G T 6: 126,534,509 P219T probably damaging Het
Kcnh2 A C 5: 24,326,638 V425G probably damaging Het
Klk5 A G 7: 43,850,822 N278S probably damaging Het
Mars2 T A 1: 55,238,053 W272R probably damaging Het
Msl3l2 C A 10: 56,115,921 S247R possibly damaging Het
Myh7 T C 14: 54,979,468 E1144G probably damaging Het
Nefm T C 14: 68,120,239 probably benign Het
Nwd2 A G 5: 63,805,301 K743E probably damaging Het
Nyap2 C T 1: 81,087,430 T53I probably damaging Het
Olfr1124 T C 2: 87,435,324 V279A probably benign Het
Olfr617 T C 7: 103,584,892 V290A possibly damaging Het
Peli2 A G 14: 48,168,298 H60R probably damaging Het
Pias2 T A 18: 77,145,148 probably benign Het
Pik3c2b A G 1: 133,094,791 D1157G probably damaging Het
Pip4k2a C T 2: 18,866,111 probably null Het
Raf1 A T 6: 115,644,548 D23E probably benign Het
Rhox10 G A X: 38,066,856 R87H probably benign Het
Rpgrip1 A G 14: 52,138,888 T449A possibly damaging Het
Serpina3a T A 12: 104,118,660 S105T probably benign Het
Slc12a9 T G 5: 137,321,429 Q608P probably damaging Het
Smg6 C A 11: 75,053,925 P167T probably damaging Het
Spata7 C T 12: 98,634,260 T44I probably damaging Het
Spink12 C T 18: 44,106,508 probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stag2 C T X: 42,250,597 T754I probably benign Het
Supt6 C T 11: 78,225,369 V723M possibly damaging Het
Ttc25 A T 11: 100,566,983 N471Y possibly damaging Het
Ubr3 A G 2: 69,948,488 D614G possibly damaging Het
Vps39 T A 2: 120,323,608 K624N probably benign Het
Vwa5b1 A T 4: 138,612,859 L29Q probably damaging Het
Wtap G A 17: 12,969,449 A188V probably benign Het
Zc3hc1 A G 6: 30,390,975 F5L probably benign Het
Zfp655 C T 5: 145,243,955 P208S probably benign Het
Zswim3 A T 2: 164,820,682 probably null Het
Other mutations in Cspg4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Cspg4 APN 9 56898865 missense probably damaging 1.00
IGL01322:Cspg4 APN 9 56898588 missense probably damaging 1.00
IGL01922:Cspg4 APN 9 56887887 missense probably damaging 1.00
IGL01993:Cspg4 APN 9 56898478 missense probably benign 0.09
IGL02398:Cspg4 APN 9 56886686 missense probably benign 0.43
IGL02503:Cspg4 APN 9 56897403 missense probably damaging 1.00
IGL02504:Cspg4 APN 9 56885772 missense probably benign 0.06
IGL02692:Cspg4 APN 9 56887454 missense probably benign 0.00
IGL02728:Cspg4 APN 9 56886481 missense probably damaging 1.00
IGL02806:Cspg4 APN 9 56890259 missense possibly damaging 0.57
IGL02886:Cspg4 APN 9 56897388 missense probably damaging 0.99
IGL03005:Cspg4 APN 9 56888488 missense probably damaging 1.00
IGL03008:Cspg4 APN 9 56898475 missense possibly damaging 0.48
IGL03202:Cspg4 APN 9 56897739 missense possibly damaging 0.93
chiclets UTSW 9 56885222 splice site probably null
R0066:Cspg4 UTSW 9 56888134 missense probably damaging 1.00
R0066:Cspg4 UTSW 9 56888134 missense probably damaging 1.00
R0254:Cspg4 UTSW 9 56897410 missense probably damaging 0.98
R0284:Cspg4 UTSW 9 56886139 missense probably damaging 0.96
R0513:Cspg4 UTSW 9 56898091 missense probably benign 0.03
R0602:Cspg4 UTSW 9 56888017 missense probably damaging 1.00
R0747:Cspg4 UTSW 9 56890280 missense probably damaging 1.00
R1005:Cspg4 UTSW 9 56888736 missense probably benign 0.13
R1421:Cspg4 UTSW 9 56896626 missense probably benign 0.00
R1443:Cspg4 UTSW 9 56886512 missense probably damaging 1.00
R1481:Cspg4 UTSW 9 56887810 missense probably damaging 0.98
R1585:Cspg4 UTSW 9 56898867 missense probably damaging 0.99
R1624:Cspg4 UTSW 9 56888470 missense probably damaging 1.00
R1670:Cspg4 UTSW 9 56897403 missense probably damaging 1.00
R1721:Cspg4 UTSW 9 56888743 missense probably damaging 0.98
R1728:Cspg4 UTSW 9 56898537 missense probably benign 0.00
R1729:Cspg4 UTSW 9 56898537 missense probably benign 0.00
R1763:Cspg4 UTSW 9 56886979 missense probably damaging 0.97
R1772:Cspg4 UTSW 9 56897492 missense probably benign 0.02
R1938:Cspg4 UTSW 9 56887101 missense probably benign 0.00
R1975:Cspg4 UTSW 9 56890478 missense probably damaging 1.00
R2064:Cspg4 UTSW 9 56896656 missense probably damaging 1.00
R2185:Cspg4 UTSW 9 56886972 missense probably benign 0.37
R2252:Cspg4 UTSW 9 56898046 missense probably damaging 1.00
R2291:Cspg4 UTSW 9 56892743 missense probably damaging 0.96
R2329:Cspg4 UTSW 9 56888550 missense probably benign 0.00
R3780:Cspg4 UTSW 9 56888233 missense probably damaging 1.00
R3830:Cspg4 UTSW 9 56897621 missense probably damaging 0.99
R3944:Cspg4 UTSW 9 56886123 missense probably damaging 1.00
R4011:Cspg4 UTSW 9 56887317 missense probably benign 0.19
R4115:Cspg4 UTSW 9 56898394 missense probably damaging 1.00
R4173:Cspg4 UTSW 9 56887930 missense probably damaging 1.00
R4243:Cspg4 UTSW 9 56887857 missense probably benign 0.12
R4329:Cspg4 UTSW 9 56892465 missense probably damaging 0.99
R4544:Cspg4 UTSW 9 56888629 missense possibly damaging 0.79
R4545:Cspg4 UTSW 9 56888629 missense possibly damaging 0.79
R4546:Cspg4 UTSW 9 56888629 missense possibly damaging 0.79
R4649:Cspg4 UTSW 9 56886865 missense possibly damaging 0.93
R4663:Cspg4 UTSW 9 56886676 missense possibly damaging 0.61
R4674:Cspg4 UTSW 9 56898205 missense probably damaging 1.00
R4779:Cspg4 UTSW 9 56885808 missense probably damaging 1.00
R4884:Cspg4 UTSW 9 56898069 missense probably benign 0.00
R5021:Cspg4 UTSW 9 56897730 missense probably benign 0.01
R5051:Cspg4 UTSW 9 56885736 missense possibly damaging 0.95
R5328:Cspg4 UTSW 9 56885856 missense probably benign 0.01
R5394:Cspg4 UTSW 9 56890200 missense probably damaging 1.00
R5567:Cspg4 UTSW 9 56886648 missense probably benign 0.00
R5682:Cspg4 UTSW 9 56886196 missense probably benign 0.14
R5690:Cspg4 UTSW 9 56898735 missense probably benign 0.01
R5715:Cspg4 UTSW 9 56891051 missense possibly damaging 0.90
R5717:Cspg4 UTSW 9 56885798 missense probably benign
R5726:Cspg4 UTSW 9 56885904 missense probably damaging 1.00
R5898:Cspg4 UTSW 9 56885222 splice site probably null
R6140:Cspg4 UTSW 9 56897224 missense probably benign 0.35
R6147:Cspg4 UTSW 9 56888772 missense probably damaging 0.99
R6239:Cspg4 UTSW 9 56888182 missense probably benign 0.04
R6343:Cspg4 UTSW 9 56892692 missense probably benign
R6351:Cspg4 UTSW 9 56892644 missense probably benign 0.00
R6564:Cspg4 UTSW 9 56890158 missense probably benign 0.02
R6814:Cspg4 UTSW 9 56890340 missense possibly damaging 0.91
R6928:Cspg4 UTSW 9 56897880 missense possibly damaging 0.95
R6967:Cspg4 UTSW 9 56890136 missense possibly damaging 0.52
R6981:Cspg4 UTSW 9 56887101 missense probably benign 0.00
R7033:Cspg4 UTSW 9 56888074 missense probably damaging 0.96
X0065:Cspg4 UTSW 9 56885736 missense possibly damaging 0.95
Z1088:Cspg4 UTSW 9 56886036 missense probably damaging 1.00
Posted On2015-04-16