Incidental Mutation 'R6172:Cd81'
ID 488247
Institutional Source Beutler Lab
Gene Symbol Cd81
Ensembl Gene ENSMUSG00000037706
Gene Name CD81 antigen
Synonyms Tspan28, Tapa1, Tapa-1
MMRRC Submission 044315-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.290) question?
Stock # R6172 (G1)
Quality Score 148.008
Status Not validated
Chromosome 7
Chromosomal Location 142606487-142621667 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 142606691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037941] [ENSMUST00000207448]
AlphaFold P35762
Predicted Effect probably benign
Transcript: ENSMUST00000037941
SMART Domains Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 230 9.1e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131129
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155952
Predicted Effect probably benign
Transcript: ENSMUST00000207448
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This protein appears to promote muscle cell fusion and support myotube maintenance. Also it may be involved in signal transduction. This gene is localized in the tumor-suppressor gene region and thus it is a candidate gene for malignancies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit altered antibody responses to specific antigens, reductions in peritoneal B-1 cell numbers and IL4 production, increased plasma IgA and IgM levels, and enlarged brains with more astrocytes and microglia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 A T 9: 9,148,246 (GRCm39) C108S possibly damaging Het
Bbs2 T C 8: 94,814,039 (GRCm39) E193G probably benign Het
Bpifb2 C A 2: 153,732,332 (GRCm39) H310Q probably benign Het
Cand2 A G 6: 115,768,271 (GRCm39) E472G probably benign Het
Chd5 A T 4: 152,463,848 (GRCm39) H1476L probably damaging Het
Clpx C A 9: 65,209,161 (GRCm39) S92* probably null Het
Cstf3 T C 2: 104,481,987 (GRCm39) V276A probably damaging Het
Ehd4 G A 2: 119,932,737 (GRCm39) Q230* probably null Het
Erich3 A G 3: 154,469,978 (GRCm39) T4A possibly damaging Het
Erlin2 T G 8: 27,526,123 (GRCm39) probably null Het
Exosc1 C A 19: 41,912,442 (GRCm39) Q148H probably damaging Het
Fbxw27 A T 9: 109,601,337 (GRCm39) V261E probably damaging Het
Flrt2 T A 12: 95,746,305 (GRCm39) N214K probably damaging Het
Foxp1 G A 6: 98,992,471 (GRCm39) Q41* probably null Het
Foxp1 C A 6: 98,992,475 (GRCm39) probably null Het
Frk T C 10: 34,467,961 (GRCm39) L325P probably damaging Het
Gm21698 T C 5: 26,192,371 (GRCm39) I72V probably benign Het
Gm39115 A T 7: 141,689,651 (GRCm39) C41S unknown Het
Hectd1 G A 12: 51,816,065 (GRCm39) P1336S probably damaging Het
Ighv7-1 T C 12: 113,860,183 (GRCm39) S70G probably damaging Het
Itga10 T C 3: 96,554,753 (GRCm39) I78T probably benign Het
Itgb4 A G 11: 115,891,237 (GRCm39) H1218R probably benign Het
Marchf6 A T 15: 31,483,013 (GRCm39) N463K possibly damaging Het
Muc5b A C 7: 141,412,513 (GRCm39) T1820P unknown Het
Nfatc4 A G 14: 56,066,990 (GRCm39) T510A possibly damaging Het
Nwd2 G T 5: 63,964,249 (GRCm39) V1278F probably damaging Het
Or52n2c A C 7: 104,574,503 (GRCm39) M156R probably benign Het
Or7g19 A G 9: 18,856,042 (GRCm39) T33A probably benign Het
P2rx1 G A 11: 72,900,856 (GRCm39) V209M probably damaging Het
Pkn1 T C 8: 84,397,384 (GRCm39) K874R possibly damaging Het
Plec C T 15: 76,056,576 (GRCm39) V4444I probably damaging Het
Ppp1r37 A T 7: 19,266,329 (GRCm39) M479K possibly damaging Het
Prr11 A C 11: 86,994,449 (GRCm39) F66V probably benign Het
Rbbp5 A G 1: 132,424,554 (GRCm39) D268G possibly damaging Het
Rbbp6 T A 7: 122,597,778 (GRCm39) Y734* probably null Het
Rc3h2 GCC GCCC 2: 37,304,745 (GRCm39) probably null Het
Rhou A G 8: 124,387,903 (GRCm39) K212E probably benign Het
Rsph1 G A 17: 31,492,392 (GRCm39) T58I probably benign Het
Serpina3m A G 12: 104,355,486 (GRCm39) N51S probably damaging Het
Shisa6 A T 11: 66,108,832 (GRCm39) D348E probably benign Het
Slc6a5 T A 7: 49,598,081 (GRCm39) Y648* probably null Het
Stag3 A G 5: 138,298,105 (GRCm39) D699G probably benign Het
Terf2ip A T 8: 112,744,649 (GRCm39) D322V probably damaging Het
Vmn1r125 A T 7: 21,006,275 (GRCm39) M58L probably benign Het
Wdr49 T A 3: 75,205,487 (GRCm39) D643V probably damaging Het
Other mutations in Cd81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cd81 APN 7 142,620,901 (GRCm39) missense probably damaging 0.97
IGL02034:Cd81 APN 7 142,619,986 (GRCm39) missense probably damaging 0.99
IGL02299:Cd81 APN 7 142,619,015 (GRCm39) missense probably damaging 1.00
IGL03024:Cd81 APN 7 142,621,089 (GRCm39) missense probably benign 0.04
R0893:Cd81 UTSW 7 142,616,242 (GRCm39) missense possibly damaging 0.88
R1990:Cd81 UTSW 7 142,620,938 (GRCm39) nonsense probably null
R1991:Cd81 UTSW 7 142,620,938 (GRCm39) nonsense probably null
R2234:Cd81 UTSW 7 142,620,056 (GRCm39) missense probably benign 0.02
R4059:Cd81 UTSW 7 142,619,030 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-10-10