Incidental Mutation 'R7300:Cd63'
ID 566934
Institutional Source Beutler Lab
Gene Symbol Cd63
Ensembl Gene ENSMUSG00000025351
Gene Name CD63 antigen
Synonyms Tspan30, ME491
MMRRC Submission 045404-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7300 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128736858-128748691 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128748034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 144 (N144S)
Ref Sequence ENSEMBL: ENSMUSP00000026407 (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 benign
Transcript: ENSMUST00000026407
AA Change: N144S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026407
Gene: ENSMUSG00000025351
AA Change: N144S

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 231 1.3e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105229
AA Change: N144S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000100862
Gene: ENSMUSG00000025351
AA Change: N144S

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 probably benign
Transcript: ENSMUST00000149961
SMART Domains Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

DomainStartEndE-ValueType
Pfam:adh_short 2 124 4e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000219317
AA Change: N144S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000220308
AA Change: N144S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (45/48)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actmap G A 7: 26,900,548 (GRCm39) A176T probably damaging Het
Adgrd1 T C 5: 129,174,411 (GRCm39) probably null Het
Atr T C 9: 95,747,423 (GRCm39) I235T probably benign Het
Bpifb5 A G 2: 154,070,066 (GRCm39) E172G possibly damaging Het
Btbd2 A T 10: 80,480,100 (GRCm39) I420N probably damaging Het
Ccdc141 G A 2: 76,845,038 (GRCm39) T1343I probably benign Het
Cd59b A T 2: 103,914,795 (GRCm39) K64N possibly damaging Het
Cip2a A G 16: 48,834,217 (GRCm39) K631E probably damaging Het
Col4a4 C T 1: 82,464,361 (GRCm39) R989Q unknown Het
Cyp4a31 A G 4: 115,427,468 (GRCm39) T225A probably benign Het
Dnah1 T G 14: 30,991,798 (GRCm39) E3068A probably benign Het
Fpgt C T 3: 154,792,612 (GRCm39) V472I probably damaging Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Homer3 T C 8: 70,737,953 (GRCm39) M1T probably null Het
Ighv1-4 T C 12: 114,450,908 (GRCm39) I67V probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Il2ra A G 2: 11,681,721 (GRCm39) T109A not run Het
Itgb6 T C 2: 60,435,650 (GRCm39) D700G probably benign Het
Krt31 T C 11: 99,938,612 (GRCm39) E327G probably damaging Het
Large1 A C 8: 73,564,224 (GRCm39) L514R probably damaging Het
Map3k8 C T 18: 4,349,076 (GRCm39) V81M probably damaging Het
Mstn T C 1: 53,103,239 (GRCm39) S192P probably benign Het
Olfml3 T C 3: 103,643,176 (GRCm39) K402E probably damaging Het
Or13a27 A T 7: 139,925,268 (GRCm39) N211K probably damaging Het
Or2n1c A C 17: 38,519,588 (GRCm39) T151P possibly damaging Het
Or2y1c C T 11: 49,361,473 (GRCm39) T165I probably benign Het
Or52i2 A G 7: 102,319,417 (GRCm39) S97G probably benign Het
Or7g17 T C 9: 18,768,530 (GRCm39) I194T not run Het
Or8k25 T C 2: 86,244,330 (GRCm39) E22G probably null Het
Pde4a T C 9: 21,117,618 (GRCm39) S627P probably damaging Het
Pdxdc1 A G 16: 13,697,374 (GRCm39) I102T probably damaging Het
Phldb2 A G 16: 45,645,925 (GRCm39) S174P probably damaging Het
Pla2g4e C T 2: 120,021,680 (GRCm39) V143I probably damaging Het
Pou4f2 C T 8: 79,162,735 (GRCm39) probably null Het
Ppl C T 16: 4,920,235 (GRCm39) V387M possibly damaging Het
Pramel43 A T 5: 94,760,655 (GRCm39) D340E probably benign Het
Rarg A T 15: 102,160,852 (GRCm39) probably null Het
Ryr1 T C 7: 28,758,936 (GRCm39) Y3414C probably damaging Het
Serpinb8 T A 1: 107,535,053 (GRCm39) *375K probably null Het
Sim1 C T 10: 50,785,614 (GRCm39) H228Y probably benign Het
Spag4 A T 2: 155,907,541 (GRCm39) H87L probably benign Het
Ttc17 A T 2: 94,205,479 (GRCm39) L289Q probably damaging Het
Ubac2 T C 14: 122,142,586 (GRCm39) L28P probably damaging Het
Vmn2r31 C A 7: 7,387,775 (GRCm39) A599S possibly damaging Het
Vps13c T C 9: 67,847,826 (GRCm39) V2196A probably benign Het
Zswim5 A T 4: 116,833,102 (GRCm39) I612F probably damaging Het
Zzef1 T A 11: 72,765,830 (GRCm39) H1452Q 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
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
R8791:Cd63 UTSW 10 128,748,071 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCCGGAAGTCTGTTCTCTAC -3'
(R):5'- ACTCTGATCCCGTAAGCATCTC -3'

Sequencing Primer
(F):5'- ACTTCTCTGCTCTTAGGTGAAGTCAG -3'
(R):5'- GATCCCGTAAGCATCTCCTGTC -3'
Posted On 2019-06-26