Incidental Mutation 'IGL02683:Cd63'
ID 303462
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd63
Ensembl Gene ENSMUSG00000025351
Gene Name CD63 antigen
Synonyms Tspan30, ME491
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02683
Quality Score
Status
Chromosome 10
Chromosomal Location 128736858-128748691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128746299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 9 (C9R)
Ref Sequence ENSEMBL: ENSMUSP00000151955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026406] [ENSMUST00000026407] [ENSMUST00000105229] [ENSMUST00000137747] [ENSMUST00000149961] [ENSMUST00000219317] [ENSMUST00000220308]
AlphaFold P41731
Predicted Effect probably benign
Transcript: ENSMUST00000026406
SMART Domains Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:adh_short 29 194 3.6e-23 PFAM
Pfam:adh_short_C2 35 230 6.6e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000026407
AA Change: C9R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026407
Gene: ENSMUSG00000025351
AA Change: C9R

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 231 1.3e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105229
AA Change: C9R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100862
Gene: ENSMUSG00000025351
AA Change: C9R

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 231 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137747
SMART Domains Protein: ENSMUSP00000116558
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
PDB:2JAP|D 1 80 6e-11 PDB
SCOP:d1hu4a_ 1 151 1e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139217
Predicted Effect probably benign
Transcript: ENSMUST00000149961
SMART Domains Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
Pfam:adh_short 2 124 4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218450
Predicted Effect probably damaging
Transcript: ENSMUST00000219317
AA Change: C9R

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220245
Predicted Effect probably damaging
Transcript: ENSMUST00000220308
AA Change: C9R

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice are viable and fertile without gross morphological abnormalities, but show an altered water balance, indicated by an increased urinary flow, water intake, reduced urine osmolality, and a higher fecal water content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T C 8: 111,779,163 (GRCm39) probably benign Het
Abhd3 A G 18: 10,658,790 (GRCm39) S215P probably damaging Het
Adam20 G A 8: 41,248,621 (GRCm39) V244M probably damaging Het
Akr1c21 A C 13: 4,626,312 (GRCm39) D112A probably damaging Het
Ano6 A T 15: 95,846,193 (GRCm39) Y498F probably damaging Het
Aspscr1 T C 11: 120,592,052 (GRCm39) F263S probably damaging Het
Capn11 A G 17: 45,964,517 (GRCm39) F100S probably damaging Het
Cenpj T C 14: 56,790,409 (GRCm39) K547E possibly damaging Het
Clasp1 A G 1: 118,466,996 (GRCm39) D793G probably benign Het
Cmya5 G A 13: 93,227,505 (GRCm39) Q2528* probably null Het
Crybg1 A G 10: 43,865,212 (GRCm39) S1422P possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnal1 G A 12: 84,185,128 (GRCm39) G178D probably damaging Het
E2f7 T C 10: 110,618,320 (GRCm39) M795T probably benign Het
Glipr1l2 T C 10: 111,919,381 (GRCm39) V34A probably benign Het
Gsdmc2 C T 15: 63,705,261 (GRCm39) V151M probably damaging Het
Htr7 T C 19: 35,937,762 (GRCm39) T448A probably benign Het
Kcnj5 T C 9: 32,229,076 (GRCm39) T41A possibly damaging Het
Kcnt1 T C 2: 25,790,937 (GRCm39) M12T possibly damaging Het
Kif1c G A 11: 70,617,278 (GRCm39) A871T possibly damaging Het
Map3k10 T C 7: 27,358,362 (GRCm39) K571R probably damaging Het
Med23 C A 10: 24,746,615 (GRCm39) A45E probably benign Het
Nudt5 C A 2: 5,868,412 (GRCm39) S103R probably damaging Het
Or9m1 T A 2: 87,733,448 (GRCm39) T191S possibly damaging Het
Parp3 A G 9: 106,350,384 (GRCm39) S369P possibly damaging Het
Plxna4 A T 6: 32,494,541 (GRCm39) L25Q probably benign Het
Pon2 A G 6: 5,269,062 (GRCm39) V204A probably damaging Het
Ppfia1 A G 7: 144,067,095 (GRCm39) M463T probably damaging Het
Ppp1r14d T C 2: 119,049,303 (GRCm39) E95G probably damaging Het
Pramel18 T C 4: 101,767,551 (GRCm39) S267P probably benign Het
Prrc2a A G 17: 35,374,969 (GRCm39) V1227A probably benign Het
Rabgap1 T A 2: 37,392,951 (GRCm39) W536R probably damaging Het
Slco6d1 A G 1: 98,408,397 (GRCm39) N431S probably benign Het
Spen C T 4: 141,198,956 (GRCm39) V3224I probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ssh2 A G 11: 77,289,082 (GRCm39) D88G probably damaging Het
Stat5b T G 11: 100,695,772 (GRCm39) K70T probably benign Het
Tex44 A G 1: 86,355,465 (GRCm39) D458G probably benign Het
Tut1 T A 19: 8,942,622 (GRCm39) C570S probably benign Het
Usp42 T C 5: 143,701,101 (GRCm39) E974G possibly damaging Het
Vezf1 A T 11: 87,967,153 (GRCm39) Q310L probably benign Het
Vmn2r83 A T 10: 79,327,115 (GRCm39) R574S probably benign Het
Zfp664 T C 5: 124,963,386 (GRCm39) V260A probably benign Het
Other mutations in Cd63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02259:Cd63 APN 10 128,747,843 (GRCm39) missense probably benign 0.01
R5212:Cd63 UTSW 10 128,747,722 (GRCm39) missense probably damaging 1.00
R5775:Cd63 UTSW 10 128,746,299 (GRCm39) missense probably damaging 0.99
R5888:Cd63 UTSW 10 128,748,160 (GRCm39) splice site probably null
R6180:Cd63 UTSW 10 128,747,933 (GRCm39) critical splice donor site probably null
R6526:Cd63 UTSW 10 128,747,358 (GRCm39) missense probably benign 0.01
R7300:Cd63 UTSW 10 128,748,034 (GRCm39) missense probably benign 0.00
R8791:Cd63 UTSW 10 128,748,071 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16