Incidental Mutation 'R0738:Cd9'
ID 70572
Institutional Source Beutler Lab
Gene Symbol Cd9
Ensembl Gene ENSMUSG00000030342
Gene Name CD9 antigen
Synonyms Tspan29
MMRRC Submission 038919-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.294) question?
Stock # R0738 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 125437229-125471723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 125439103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 169 (Q169K)
Ref Sequence ENSEMBL: ENSMUSP00000032492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032492]
AlphaFold P40240
Predicted Effect probably benign
Transcript: ENSMUST00000032492
AA Change: Q169K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032492
Gene: ENSMUSG00000030342
AA Change: Q169K

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.3%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,388,812 (GRCm39) M189K probably benign Het
Ank1 A T 8: 23,604,130 (GRCm39) E964D probably damaging Het
Ankhd1 A G 18: 36,778,302 (GRCm39) probably benign Het
Cdc42bpa T A 1: 179,827,027 (GRCm39) probably benign Het
Ch25h T C 19: 34,451,787 (GRCm39) N247S possibly damaging Het
Dctn1 T C 6: 83,167,089 (GRCm39) probably null Het
Defa22 C T 8: 21,652,391 (GRCm39) T19I probably benign Het
Dscam T C 16: 96,620,981 (GRCm39) N576D possibly damaging Het
Epha3 T C 16: 63,415,975 (GRCm39) M675V probably damaging Het
Fam241a C A 3: 127,664,442 (GRCm39) A120S possibly damaging Het
Fkbp8 T A 8: 70,982,320 (GRCm39) I86N probably damaging Het
Herc4 C T 10: 63,124,928 (GRCm39) P514L possibly damaging Het
Ide A T 19: 37,255,364 (GRCm39) L813* probably null Het
Igkv12-41 G A 6: 69,835,675 (GRCm39) Q26* probably null Het
Itsn2 T C 12: 4,685,681 (GRCm39) V483A probably benign Het
Kcp A T 6: 29,490,438 (GRCm39) I1002N probably benign Het
Lrfn5 G T 12: 61,887,378 (GRCm39) E389* probably null Het
Lrp6 G T 6: 134,519,008 (GRCm39) A19E probably benign Het
Mad1l1 A G 5: 140,286,315 (GRCm39) L228P probably damaging Het
Map2 T C 1: 66,464,348 (GRCm39) probably benign Het
Med13l T A 5: 118,889,698 (GRCm39) Y1820N probably damaging Het
Mgam A G 6: 40,731,869 (GRCm39) N735S probably benign Het
Mid2 A G X: 139,664,425 (GRCm39) Y618C probably damaging Het
Mllt11 G A 3: 95,127,597 (GRCm39) Q58* probably null Het
Mttp A G 3: 137,809,074 (GRCm39) V678A probably damaging Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Ninj2 A G 6: 120,175,098 (GRCm39) probably benign Het
Nsd3 T A 8: 26,168,725 (GRCm39) probably null Het
Or5b102 A T 19: 13,041,102 (GRCm39) E109V probably damaging Het
Or8c17 T C 9: 38,180,421 (GRCm39) V204A possibly damaging Het
Pcdhb4 A G 18: 37,441,764 (GRCm39) N358S probably damaging Het
Plch1 T C 3: 63,609,974 (GRCm39) probably benign Het
Popdc3 T C 10: 45,191,354 (GRCm39) L155P probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbm26 A T 14: 105,414,218 (GRCm39) I24N unknown Het
Rc3h2 T A 2: 37,295,386 (GRCm39) D210V probably damaging Het
Samd1 CGAGGAGGAGGAGGAGGAGGA CGAGGAGGAGGAGGAGGA 8: 84,725,625 (GRCm39) probably benign Het
Spopl T C 2: 23,427,533 (GRCm39) T200A probably benign Het
Tarbp1 A G 8: 127,165,540 (GRCm39) probably null Het
Thnsl1 T A 2: 21,218,173 (GRCm39) H121Q probably damaging Het
Tll1 T C 8: 64,554,984 (GRCm39) D233G probably damaging Het
Vmn2r27 A T 6: 124,200,661 (GRCm39) V432E possibly damaging Het
Wdr5 T C 2: 27,409,424 (GRCm39) S49P probably damaging Het
Zfyve26 A T 12: 79,342,308 (GRCm39) I46N probably 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
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
R6627:Cd9 UTSW 6 125,439,375 (GRCm39) missense possibly damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCAAGCATTCTGCCACTCAAAGAGG -3'
(R):5'- TTACGGAGCAAGGATGAACCCCAG -3'

Sequencing Primer
(F):5'- cactCAAAGAGGCCCCTCTG -3'
(R):5'- ATATGGCGGTAGGTCACCTC -3'
Posted On 2013-09-30