Incidental Mutation 'R2085:Cd9'
ID 230258
Institutional Source Beutler Lab
Gene Symbol Cd9
Ensembl Gene ENSMUSG00000030342
Gene Name CD9 antigen
Synonyms Tspan29
MMRRC Submission 040090-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R2085 (G1)
Quality Score 214
Status Not validated
Chromosome 6
Chromosomal Location 125437229-125471723 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 125440734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032492]
AlphaFold P40240
Predicted Effect probably null
Transcript: ENSMUST00000032492
SMART Domains Protein: ENSMUSP00000032492
Gene: ENSMUSG00000030342

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik G T 11: 69,791,198 (GRCm39) T127K possibly damaging Het
A2m T G 6: 121,653,918 (GRCm39) I1417S probably damaging Het
Acad10 A G 5: 121,787,523 (GRCm39) I142T possibly damaging Het
Adprm T A 11: 66,932,678 (GRCm39) D77V probably damaging Het
Apob C T 12: 8,062,240 (GRCm39) T3574I probably damaging Het
Bahcc1 A G 11: 120,178,908 (GRCm39) K2489R probably damaging Het
Bub1b A G 2: 118,452,676 (GRCm39) E443G possibly damaging Het
Cgnl1 G A 9: 71,538,160 (GRCm39) T1194M probably damaging Het
Clec9a T C 6: 129,387,274 (GRCm39) V43A probably benign Het
Col11a1 C T 3: 113,951,791 (GRCm39) R1074C probably damaging Het
Dpep3 A G 8: 106,701,346 (GRCm39) V401A probably damaging Het
Duox2 G T 2: 122,111,448 (GRCm39) H1417N probably damaging Het
Efhb C T 17: 53,733,937 (GRCm39) probably null Het
F2r T C 13: 95,741,418 (GRCm39) N39S probably benign Het
Fcamr T C 1: 130,739,335 (GRCm39) F212L probably damaging Het
Galt G A 4: 41,758,162 (GRCm39) R309Q probably damaging Het
Gas2l2 C A 11: 83,318,209 (GRCm39) A167S probably benign Het
Hecw1 A T 13: 14,438,672 (GRCm39) F904I possibly damaging Het
Herc2 C A 7: 55,862,713 (GRCm39) H4127Q possibly damaging Het
Hipk1 T C 3: 103,657,670 (GRCm39) T805A probably benign Het
Hivep1 A G 13: 42,337,226 (GRCm39) E2435G probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hivep2 C A 10: 14,015,273 (GRCm39) C1813* probably null Het
Hyal4 C T 6: 24,755,749 (GRCm39) probably benign Het
Inpp4b A G 8: 82,678,903 (GRCm39) Y311C probably damaging Het
Itih4 A G 14: 30,614,280 (GRCm39) Y410C possibly damaging Het
Lama2 A T 10: 27,080,837 (GRCm39) C995* probably null Het
Lingo4 C A 3: 94,309,552 (GRCm39) D163E probably damaging Het
Malt1 A G 18: 65,606,218 (GRCm39) D642G probably damaging Het
Mbd4 T A 6: 115,825,918 (GRCm39) M358L probably benign Het
Mbd5 T A 2: 49,169,323 (GRCm39) F1498Y possibly damaging Het
Me1 T C 9: 86,495,607 (GRCm39) Q280R probably damaging Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Or13p10 T C 4: 118,523,301 (GRCm39) S196P probably damaging Het
Or1e1 T C 11: 73,245,247 (GRCm39) S223P possibly damaging Het
Or4k1 T A 14: 50,377,580 (GRCm39) N172I probably damaging Het
Or5h18 C T 16: 58,848,232 (GRCm39) V13I probably benign Het
Or8b1c A G 9: 38,384,223 (GRCm39) Y60C probably damaging Het
Polr2j T C 5: 136,145,625 (GRCm39) F7L probably damaging Het
Ppp1r16a T A 15: 76,577,796 (GRCm39) D303E probably damaging Het
Prickle2 T C 6: 92,353,345 (GRCm39) E763G probably damaging Het
Rdh11 T C 12: 79,229,556 (GRCm39) Y239C possibly damaging Het
Sdhaf3 A G 6: 6,956,048 (GRCm39) R8G probably benign Het
Sgk2 T C 2: 162,854,890 (GRCm39) S305P probably damaging Het
Sptbn2 A G 19: 4,788,587 (GRCm39) S1189G probably benign Het
Stab2 A G 10: 86,790,023 (GRCm39) L581P probably damaging Het
Tifab T C 13: 56,324,110 (GRCm39) Q111R probably damaging Het
Ubr3 C T 2: 69,784,108 (GRCm39) R775C probably damaging Het
Usp17lb T A 7: 104,489,622 (GRCm39) Q434L possibly damaging Het
Wdr46 G T 17: 34,160,425 (GRCm39) E135* probably null Het
Zfp318 T A 17: 46,720,590 (GRCm39) probably null Het
Zfp874a T A 13: 67,590,967 (GRCm39) H239L probably damaging Het
Zscan29 A T 2: 121,000,427 (GRCm39) L60* probably null 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
R4201:Cd9 UTSW 6 125,439,357 (GRCm39) missense possibly damaging 0.56
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'- GGTGTGATCAGTGGAAAACCC -3'
(R):5'- TGCTGCCCGACTCTAAACTAAC -3'

Sequencing Primer
(F):5'- CAGCAAGTGACTAGCCTGGAC -3'
(R):5'- CATCCCCAAGTACCAGTGTAGGG -3'
Posted On 2014-09-18