Incidental Mutation 'R4201:Cd9'
ID 318751
Institutional Source Beutler Lab
Gene Symbol Cd9
Ensembl Gene ENSMUSG00000030342
Gene Name CD9 antigen
Synonyms Tspan29
MMRRC Submission 041031-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R4201 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 125437229-125471723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125439357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000032492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032492]
AlphaFold P40240
Predicted Effect possibly damaging
Transcript: ENSMUST00000032492
AA Change: D125G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032492
Gene: ENSMUSG00000030342
AA Change: D125G

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 219 2.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140024
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]
PHENOTYPE: Females homozygous for targeted null mutations are infertile due to lack of sperm-egg fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A G 18: 6,623,952 (GRCm39) probably null Het
Als2 A T 1: 59,219,313 (GRCm39) D1212E possibly damaging Het
Arfgef3 A G 10: 18,495,530 (GRCm39) S1167P probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Atp1b2 A G 11: 69,494,295 (GRCm39) V66A possibly damaging Het
Bag3 C A 7: 128,147,881 (GRCm39) L499I probably damaging Het
Boc T C 16: 44,310,981 (GRCm39) D751G probably damaging Het
Camk1d T C 2: 5,359,587 (GRCm39) Y145C probably benign Het
Ccdc172 G A 19: 58,525,017 (GRCm39) R158H probably benign Het
Cd101 A C 3: 100,926,001 (GRCm39) D239E probably damaging Het
Cep295 T C 9: 15,243,834 (GRCm39) I1493V probably benign Het
Chrna5 A G 9: 54,905,359 (GRCm39) D57G probably benign Het
Cul7 C T 17: 46,972,238 (GRCm39) R1201W probably damaging Het
Dnah1 A G 14: 30,984,227 (GRCm39) V3976A probably benign Het
Dnah11 T C 12: 117,930,394 (GRCm39) D3317G possibly damaging Het
Dnmt3b G T 2: 153,512,337 (GRCm39) E353* probably null Het
Gch1 T C 14: 47,393,260 (GRCm39) S241G probably benign Het
Gpr22 A T 12: 31,758,912 (GRCm39) Y366* probably null Het
Gse1 A T 8: 121,294,503 (GRCm39) M277L probably benign Het
Kcnt2 G A 1: 140,353,070 (GRCm39) V260I probably damaging Het
Nbas G T 12: 13,424,827 (GRCm39) C1022F probably benign Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Or6c206 T C 10: 129,097,646 (GRCm39) V272A probably benign Het
Or6c214 A T 10: 129,590,497 (GRCm39) L274H probably damaging Het
Parp4 C A 14: 56,829,848 (GRCm39) T274K possibly damaging Het
Pgs1 A G 11: 117,893,362 (GRCm39) S230G probably damaging Het
Plin4 T G 17: 56,411,338 (GRCm39) T898P probably damaging Het
Ptprj A C 2: 90,293,439 (GRCm39) V548G probably damaging Het
Sec23a T C 12: 59,048,791 (GRCm39) I139M probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Syne1 A T 10: 5,297,870 (GRCm39) D1142E probably benign Het
Tbccd1 A G 16: 22,644,698 (GRCm39) V226A probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmed7 A G 18: 46,726,314 (GRCm39) probably null Het
Tnfrsf23 A T 7: 143,223,791 (GRCm39) C137S probably damaging Het
Vmn2r87 T C 10: 130,308,448 (GRCm39) I597V probably benign Het
Other mutations in Cd9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02496:Cd9 APN 6 125,449,458 (GRCm39) missense probably damaging 1.00
R0255:Cd9 UTSW 6 125,440,703 (GRCm39) missense probably damaging 1.00
R0472:Cd9 UTSW 6 125,449,396 (GRCm39) missense probably benign
R0738:Cd9 UTSW 6 125,439,103 (GRCm39) missense probably benign 0.00
R1697:Cd9 UTSW 6 125,441,367 (GRCm39) missense probably damaging 0.98
R2085:Cd9 UTSW 6 125,440,734 (GRCm39) splice site probably null
R4961:Cd9 UTSW 6 125,440,703 (GRCm39) missense probably damaging 1.00
R5580:Cd9 UTSW 6 125,441,420 (GRCm39) missense probably damaging 1.00
R6627:Cd9 UTSW 6 125,439,375 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- CTCCAAAGGACCAGCTATGC -3'
(R):5'- CTGTAACCTGGGCACTTTGG -3'

Sequencing Primer
(F):5'- TGCCACAGCAGTCCAACTTTAG -3'
(R):5'- AACCTGGGCACTTTGGAGGTC -3'
Posted On 2015-06-10