Incidental Mutation 'R4961:Cd9'
ID 381762
Institutional Source Beutler Lab
Gene Symbol Cd9
Ensembl Gene ENSMUSG00000030342
Gene Name CD9 antigen
Synonyms Tspan29
MMRRC Submission 042558-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R4961 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125437229-125471723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125440703 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 96 (V96E)
Ref Sequence ENSEMBL: ENSMUSP00000032492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032492]
AlphaFold P40240
Predicted Effect probably damaging
Transcript: ENSMUST00000032492
AA Change: V96E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032492
Gene: ENSMUSG00000030342
AA Change: V96E

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 219 2.9e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140024
Meta Mutation Damage Score 0.8296 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.3%
  • 20x: 88.3%
Validation Efficiency 95% (62/65)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110082I17Rik T C 5: 139,349,855 (GRCm39) K65E probably damaging Het
Acp5 C A 9: 22,041,233 (GRCm39) A65S probably benign Het
Adad2 G A 8: 120,342,397 (GRCm39) R345H probably damaging Het
Adamts7 G T 9: 90,067,793 (GRCm39) G428W probably damaging Het
Amy1 A G 3: 113,355,498 (GRCm39) S326P probably damaging Het
Ankrd44 C T 1: 54,703,071 (GRCm39) D482N probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Ano8 G C 8: 71,935,640 (GRCm39) P326R probably damaging Het
Arhgef26 A G 3: 62,367,046 (GRCm39) E793G probably damaging Het
Cdh9 A G 15: 16,850,914 (GRCm39) N561S probably benign Het
Col16a1 G A 4: 129,948,272 (GRCm39) probably null Het
Cpne7 G A 8: 123,860,498 (GRCm39) G484R probably damaging Het
Dcun1d4 A T 5: 73,701,463 (GRCm39) K194* probably null Het
Dock3 A G 9: 106,818,515 (GRCm39) V1193A probably damaging Het
Dst A G 1: 34,007,904 (GRCm39) R113G possibly damaging Het
Epha5 A T 5: 84,381,502 (GRCm39) S450T probably damaging Het
Gm5581 A T 6: 131,144,190 (GRCm39) noncoding transcript Het
Grhl3 A G 4: 135,279,918 (GRCm39) Y379H probably damaging Het
Herpud1 T C 8: 95,117,454 (GRCm39) S13P probably benign Het
Jam2 C T 16: 84,606,435 (GRCm39) Q150* probably null Het
Jph2 C G 2: 163,217,668 (GRCm39) R336P probably damaging Het
Kansl3 T A 1: 36,387,764 (GRCm39) probably null Het
Kctd1 G A 18: 15,195,580 (GRCm39) P348S probably damaging Het
Klhl30 T A 1: 91,285,106 (GRCm39) S321T possibly damaging Het
Klhl5 T C 5: 65,310,033 (GRCm39) probably benign Het
Letm2 T C 8: 26,084,108 (GRCm39) H41R possibly damaging Het
Ltn1 A T 16: 87,194,679 (GRCm39) C1407S probably benign Het
Map1b T C 13: 99,572,161 (GRCm39) T187A probably damaging Het
Marveld2 T C 13: 100,748,431 (GRCm39) N216S probably benign Het
Matn1 A G 4: 130,680,234 (GRCm39) Y437C probably damaging Het
Oas1h T C 5: 121,009,159 (GRCm39) Y290H probably damaging Het
Ofcc1 A G 13: 40,417,035 (GRCm39) probably null Het
Or2m12 C A 16: 19,104,726 (GRCm39) G256W probably damaging Het
Or4k51 A T 2: 111,584,750 (GRCm39) D52V probably damaging Het
Or8g34 A G 9: 39,373,183 (GRCm39) Y152C probably damaging Het
Otof C A 5: 30,540,837 (GRCm39) probably benign Het
Pcdh15 G T 10: 74,215,249 (GRCm39) probably null Het
Pgk2 G A 17: 40,518,412 (GRCm39) P339S probably damaging Het
Piezo2 T C 18: 63,186,032 (GRCm39) probably null Het
Prex2 A G 1: 11,168,705 (GRCm39) T234A possibly damaging Het
Rasgrf1 C T 9: 89,826,922 (GRCm39) T177M probably benign Het
Rgs1 A T 1: 144,124,309 (GRCm39) probably null Het
Snx25 T C 8: 46,521,229 (GRCm39) N239S probably damaging Het
Spata31d1a T A 13: 59,849,716 (GRCm39) H804L possibly damaging Het
Spon2 A T 5: 33,371,896 (GRCm39) Y303* probably null Het
Spopfm2 A T 3: 94,082,841 (GRCm39) C323* probably null Het
Thrb G A 14: 18,011,076 (GRCm38) D151N probably benign Het
Tns1 A G 1: 73,975,074 (GRCm39) V1170A probably benign Het
Trbv19 A T 6: 41,155,706 (GRCm39) I26F probably damaging Het
Tstd2 T C 4: 46,120,467 (GRCm39) N311S probably damaging Het
Ttn T A 2: 76,715,746 (GRCm39) probably benign Het
Ugt1a1 CAGAGAGAGAGAGA CAGAGAGAGAGA 1: 88,139,706 (GRCm39) probably benign Het
Vmn1r185 G A 7: 26,310,716 (GRCm39) A263V probably benign Het
Zfp316 T C 5: 143,239,169 (GRCm39) H950R probably damaging Het
Zfp51 A G 17: 21,676,615 (GRCm39) K29E probably benign Het
Zfp644 T C 5: 106,766,081 (GRCm39) 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
R4201:Cd9 UTSW 6 125,439,357 (GRCm39) missense possibly damaging 0.56
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'- TTATTGCTGCCCGACTCTAAAC -3'

Sequencing Primer
(F):5'- CAGCAAGTGACTAGCCTGGAC -3'
(R):5'- GGGCAGCAGATCACATTTTC -3'
Posted On 2016-04-27