Incidental Mutation 'R6627:Cd9'
ID 524861
Institutional Source Beutler Lab
Gene Symbol Cd9
Ensembl Gene ENSMUSG00000030342
Gene Name CD9 antigen
Synonyms Tspan29
MMRRC Submission 044749-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.325) question?
Stock # R6627 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 125437229-125471723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125439375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 119 (L119P)
Ref Sequence ENSEMBL: ENSMUSP00000032492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032492]
AlphaFold P40240
Predicted Effect possibly damaging
Transcript: ENSMUST00000032492
AA Change: L119P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000032492
Gene: ENSMUSG00000030342
AA Change: L119P

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.1%
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd29 T C 18: 12,395,221 (GRCm39) N224S probably benign Het
Ccdc162 A G 10: 41,539,181 (GRCm39) S396P probably damaging Het
Cdk17 A C 10: 93,068,274 (GRCm39) T311P probably damaging Het
Cep89 A G 7: 35,127,172 (GRCm39) D511G possibly damaging Het
Coq3 T C 4: 21,908,607 (GRCm39) V286A possibly damaging Het
Cyp2j13 G A 4: 95,947,343 (GRCm39) T236I probably damaging Het
Ddx46 T C 13: 55,800,748 (GRCm39) V301A probably benign Het
Dnah10 A T 5: 124,907,097 (GRCm39) I4209F probably damaging Het
E2f5 G A 3: 14,668,917 (GRCm39) E270K probably benign Het
Elp1 A T 4: 56,784,647 (GRCm39) probably null Het
Esp24 C T 17: 39,350,952 (GRCm39) Q51* probably null Het
Fam168b C A 1: 34,875,822 (GRCm39) G21V probably damaging Het
Fasn G T 11: 120,709,753 (GRCm39) Q435K probably benign Het
Gpr17 T C 18: 32,080,949 (GRCm39) Y38C probably damaging Het
Lfng T C 5: 140,593,523 (GRCm39) V118A probably damaging Het
Maco1 A G 4: 134,563,654 (GRCm39) V110A probably damaging Het
Muc5ac T C 7: 141,362,427 (GRCm39) probably benign Het
Myh1 T G 11: 67,105,835 (GRCm39) L1150R probably damaging Het
Plod3 T G 5: 137,017,310 (GRCm39) I111S probably damaging Het
Sh2d4a T A 8: 68,746,970 (GRCm39) V66D probably damaging Het
Simc1 T G 13: 54,694,887 (GRCm39) L323V probably damaging Het
Thnsl2 A G 6: 71,111,199 (GRCm39) I223T possibly damaging Het
Tmem203 T C 2: 25,145,785 (GRCm39) probably null Het
Tmppe A G 9: 114,234,553 (GRCm39) D284G probably damaging Het
Ube2s C T 7: 4,813,581 (GRCm39) R61H possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AAGGACCAGCTATGCCACAG -3'
(R):5'- AAGATGGCAGACTCCTGTAAC -3'

Sequencing Primer
(F):5'- TGCCACAGCAGTCCAACTTTAG -3'
(R):5'- AACCTGGGCACTTTGGAG -3'
Posted On 2018-06-22