Incidental Mutation 'R5775:Cd63'
ID 448737
Institutional Source Beutler Lab
Gene Symbol Cd63
Ensembl Gene ENSMUSG00000025351
Gene Name CD63 antigen
Synonyms Tspan30, ME491
MMRRC Submission 043374-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5775 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 128736858-128748691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 128746299 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 9 (C9S)
Ref Sequence ENSEMBL: ENSMUSP00000151313 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026406] [ENSMUST00000026407] [ENSMUST00000105229] [ENSMUST00000137747] [ENSMUST00000149961] [ENSMUST00000220308] [ENSMUST00000219317]
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: C9S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026407
Gene: ENSMUSG00000025351
AA Change: C9S

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 231 1.3e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105229
AA Change: C9S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000100862
Gene: ENSMUSG00000025351
AA Change: C9S

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: ENSMUST00000220308
AA Change: C9S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000219317
AA Change: C9S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220245
Meta Mutation Damage Score 0.9329 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 97% (59/61)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,509,886 (GRCm39) D753G possibly damaging Het
Arpc2 T A 1: 74,295,108 (GRCm39) probably null Het
Atxn2 C T 5: 121,951,512 (GRCm39) T619M probably damaging Het
Cacna1s T C 1: 136,035,860 (GRCm39) Y1120H probably damaging Het
Calm5 T C 13: 3,904,435 (GRCm39) L20S probably damaging Het
Carmil1 T C 13: 24,460,520 (GRCm39) I20V probably benign Het
Cd177 T C 7: 24,451,693 (GRCm39) E441G probably damaging Het
Cep250 A C 2: 155,811,294 (GRCm39) D380A possibly damaging Het
Col5a3 G T 9: 20,712,368 (GRCm39) P509Q unknown Het
Cyp11b2 A G 15: 74,725,327 (GRCm39) V264A probably benign Het
Dennd6a T A 14: 26,340,528 (GRCm39) L214* probably null Het
Dna2 A G 10: 62,785,021 (GRCm39) N46S possibly damaging Het
Elovl1 G A 4: 118,288,094 (GRCm39) V77I probably benign Het
Eml1 A T 12: 108,472,813 (GRCm39) Y207F probably damaging Het
Epha6 C T 16: 59,639,357 (GRCm39) R839Q possibly damaging Het
Erlec1 A T 11: 30,893,848 (GRCm39) S105T probably benign Het
Esp3 T A 17: 40,944,468 (GRCm39) S37T possibly damaging Het
Foxh1 G A 15: 76,554,049 (GRCm39) A8V probably benign Het
Fut1 A C 7: 45,268,886 (GRCm39) D280A probably damaging Het
Gm13998 G T 2: 119,708,892 (GRCm39) noncoding transcript Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
H2az1 T C 3: 137,571,380 (GRCm39) Y61H probably damaging Het
Kcns1 T C 2: 164,006,686 (GRCm39) I426V probably damaging Het
Kdm4c T G 4: 74,277,668 (GRCm39) V774G probably damaging Het
Mrc2 G A 11: 105,228,639 (GRCm39) V673I probably benign Het
Mtnr1b G A 9: 15,774,168 (GRCm39) A297V possibly damaging Het
Or5d43 A T 2: 88,105,045 (GRCm39) M116K probably damaging Het
Or8b40 A T 9: 38,027,423 (GRCm39) E110D probably damaging Het
Osbpl5 A T 7: 143,258,266 (GRCm39) V346D probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pigo T C 4: 43,023,475 (GRCm39) D233G probably damaging Het
Pmm1 A T 15: 81,836,156 (GRCm39) I152N probably benign Het
Pot1a A T 6: 25,757,297 (GRCm39) probably null Het
Ppp1r12b G T 1: 134,803,780 (GRCm39) L460I probably benign Het
Prrc2a T C 17: 35,377,463 (GRCm39) D565G unknown Het
Psd C A 19: 46,303,211 (GRCm39) E724* probably null Het
Rasa2 C T 9: 96,459,521 (GRCm39) probably null Het
Rsbn1 A T 3: 103,869,888 (GRCm39) Q783L possibly damaging Het
Ryr2 T C 13: 11,784,848 (GRCm39) Y1035C probably damaging Het
Sec24d C T 3: 123,084,109 (GRCm39) A96V probably benign Het
Sec61a2 A T 2: 5,887,585 (GRCm39) probably null Het
Sec62 A G 3: 30,847,436 (GRCm39) probably benign Het
Tcstv2a T A 13: 120,725,475 (GRCm39) C46* probably null Het
Tmem132b T A 5: 125,715,394 (GRCm39) probably null Het
Tnip3 A G 6: 65,591,741 (GRCm39) S247G probably benign Het
Traf3 A G 12: 111,219,162 (GRCm39) K263R possibly damaging Het
Tubgcp3 A T 8: 12,675,056 (GRCm39) I713N probably damaging Het
Unc5c A G 3: 141,534,281 (GRCm39) E860G probably damaging Het
Usp44 A G 10: 93,681,840 (GRCm39) S97G possibly damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vps37a A G 8: 40,982,160 (GRCm39) H109R probably damaging Het
Wfikkn2 G T 11: 94,129,114 (GRCm39) D342E probably benign Het
Zfp354b A T 11: 50,813,647 (GRCm39) F426Y probably benign Het
Zfp462 C A 4: 55,010,590 (GRCm39) T852N probably damaging Het
Zfp987 T G 4: 146,061,505 (GRCm39) S312R probably benign Het
Other mutations in Cd63
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02259:Cd63 APN 10 128,747,843 (GRCm39) missense probably benign 0.01
IGL02683:Cd63 APN 10 128,746,299 (GRCm39) missense probably damaging 1.00
R5212:Cd63 UTSW 10 128,747,722 (GRCm39) missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- CAACTTTGCCTCGAAGTTCG -3'
(R):5'- TTACTCAGAGGTCCCGGAAAGC -3'

Sequencing Primer
(F):5'- AGATCTACCTGGAGTCCGG -3'
(R):5'- CGGACACGTTCTGCCTTTGG -3'
Posted On 2016-12-15