Incidental Mutation 'R1991:Cd81'
ID 225154
Institutional Source Beutler Lab
Gene Symbol Cd81
Ensembl Gene ENSMUSG00000037706
Gene Name CD81 antigen
Synonyms Tspan28, Tapa1, Tapa-1
MMRRC Submission 040002-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.297) question?
Stock # R1991 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 142606487-142621667 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 142620938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Stop codon at position 206 (G206*)
Ref Sequence ENSEMBL: ENSMUSP00000043768 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009390] [ENSMUST00000037941] [ENSMUST00000060433] [ENSMUST00000105920] [ENSMUST00000208779] [ENSMUST00000141954] [ENSMUST00000207448] [ENSMUST00000137856] [ENSMUST00000177841] [ENSMUST00000147995] [ENSMUST00000133410]
AlphaFold P35762
Predicted Effect probably benign
Transcript: ENSMUST00000009390
SMART Domains Protein: ENSMUSP00000009390
Gene: ENSMUSG00000009246

DomainStartEndE-ValueType
Blast:ANK 382 411 2e-6 BLAST
transmembrane domain 644 666 N/A INTRINSIC
Pfam:Ion_trans 736 989 1.2e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000037941
AA Change: G206*
SMART Domains Protein: ENSMUSP00000043768
Gene: ENSMUSG00000037706
AA Change: G206*

DomainStartEndE-ValueType
Pfam:Tetraspannin 9 230 9.1e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060433
SMART Domains Protein: ENSMUSP00000056582
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 91 207 3.9e-43 PFAM
low complexity region 232 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105920
SMART Domains Protein: ENSMUSP00000101540
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128762
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146075
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207776
Predicted Effect probably benign
Transcript: ENSMUST00000208779
Predicted Effect probably benign
Transcript: ENSMUST00000141954
Predicted Effect probably benign
Transcript: ENSMUST00000207448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150589
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208278
Predicted Effect probably benign
Transcript: ENSMUST00000137856
SMART Domains Protein: ENSMUSP00000123353
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 209 1.6e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177841
SMART Domains Protein: ENSMUSP00000137399
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 210 1.7e-34 PFAM
low complexity region 232 250 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148715
Predicted Effect probably benign
Transcript: ENSMUST00000147995
SMART Domains Protein: ENSMUSP00000122335
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 55 69 N/A INTRINSIC
Pfam:TSSC4 90 196 4.8e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136602
Predicted Effect probably benign
Transcript: ENSMUST00000133410
SMART Domains Protein: ENSMUSP00000123499
Gene: ENSMUSG00000045752

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
low complexity region 85 106 N/A INTRINSIC
low complexity region 124 138 N/A INTRINSIC
Pfam:TSSC4 159 266 5.2e-31 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 100% (124/124)
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: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,771,419 (GRCm39) R203* probably null Het
Abcc2 A T 19: 43,795,581 (GRCm39) I446F probably damaging Het
Afap1l2 A T 19: 56,990,699 (GRCm39) I18N possibly damaging Het
Aida A T 1: 183,094,627 (GRCm39) E107D probably benign Het
Amer2 A G 14: 60,617,269 (GRCm39) Y362C probably damaging Het
Amigo1 T C 3: 108,094,644 (GRCm39) S48P probably benign Het
Ano5 A G 7: 51,187,561 (GRCm39) K50R possibly damaging Het
Anxa2 A T 9: 69,391,098 (GRCm39) D95V probably damaging Het
Arhgap22 A G 14: 33,088,916 (GRCm39) N466D probably damaging Het
Armc3 T C 2: 19,297,953 (GRCm39) Y575H probably damaging Het
Ascc2 A G 11: 4,629,257 (GRCm39) E523G probably benign Het
B3galt5 A T 16: 96,117,225 (GRCm39) K286M probably damaging Het
Bag3 C T 7: 128,147,407 (GRCm39) H341Y probably benign Het
Blm G T 7: 80,155,697 (GRCm39) probably null Het
Cacna1b G A 2: 24,622,318 (GRCm39) P222L probably damaging Het
Cap2 T A 13: 46,791,357 (GRCm39) Y175N possibly damaging Het
Cep290 T A 10: 100,367,046 (GRCm39) S1132R possibly damaging Het
Cluh C A 11: 74,550,355 (GRCm39) C222* probably null Het
Col14a1 A T 15: 55,313,336 (GRCm39) D1320V unknown Het
Col18a1 T C 10: 76,916,988 (GRCm39) I114V unknown Het
Cped1 A G 6: 22,233,926 (GRCm39) T847A probably damaging Het
Cpne7 A G 8: 123,854,176 (GRCm39) K288E possibly damaging Het
Cr2 G A 1: 194,836,458 (GRCm39) P1278S possibly damaging Het
Creb3 C A 4: 43,565,327 (GRCm39) R202S probably damaging Het
Cyp2j9 T A 4: 96,460,201 (GRCm39) K434M probably damaging Het
Dnai3 G T 3: 145,769,235 (GRCm39) T522K possibly damaging Het
Dpp10 A T 1: 123,832,833 (GRCm39) V48E probably null Het
Dsg2 A G 18: 20,734,530 (GRCm39) K836R probably damaging Het
Dst A G 1: 34,229,339 (GRCm39) T1986A probably benign Het
Dvl1 G A 4: 155,932,273 (GRCm39) V28I possibly damaging Het
Ecm2 A G 13: 49,683,732 (GRCm39) D570G probably benign Het
Efhc1 T A 1: 21,059,784 (GRCm39) C611* probably null Het
Epop T C 11: 97,519,480 (GRCm39) T210A probably benign Het
Erc2 A G 14: 27,733,593 (GRCm39) I556V probably benign Het
Fdxacb1 A T 9: 50,682,946 (GRCm39) N101I probably benign Het
Fhad1 T C 4: 141,709,473 (GRCm39) S294G possibly damaging Het
Galnt16 A G 12: 80,630,430 (GRCm39) D262G probably damaging Het
Gorab A G 1: 163,224,625 (GRCm39) S59P probably damaging Het
Gpr161 G T 1: 165,134,132 (GRCm39) M131I probably damaging Het
Gpr22 T A 12: 31,759,202 (GRCm39) M270L probably benign Het
Grin3b C A 10: 79,806,746 (GRCm39) Q5K probably benign Het
Grin3b C T 10: 79,810,480 (GRCm39) A662V probably damaging Het
Gsdmc A G 15: 63,673,748 (GRCm39) I179T probably benign Het
Gsdmc2 T A 15: 63,700,086 (GRCm39) M229L probably benign Het
H2-Eb2 A G 17: 34,553,278 (GRCm39) I155V probably benign Het
Hoga1 A C 19: 42,048,459 (GRCm39) probably null Het
Hs3st5 A G 10: 36,708,882 (GRCm39) Y139C probably damaging Het
Il10ra C A 9: 45,167,109 (GRCm39) A481S probably benign Het
Ints2 T A 11: 86,139,760 (GRCm39) H278L possibly damaging Het
Kalrn T G 16: 33,796,108 (GRCm39) L1222F probably damaging Het
Klhl25 T A 7: 75,516,480 (GRCm39) V157D probably damaging Het
Klk1b26 A T 7: 43,666,324 (GRCm39) T256S probably damaging Het
Krt81 T C 15: 101,360,435 (GRCm39) Q184R probably benign Het
Lce1k A T 3: 92,714,125 (GRCm39) C20S unknown Het
Letm1 A AG 5: 33,926,859 (GRCm39) probably null Het
Lin54 A G 5: 100,633,660 (GRCm39) probably null Het
Lrrc37a T C 11: 103,391,087 (GRCm39) E1446G probably benign Het
Macf1 A G 4: 123,350,488 (GRCm39) S3792P probably damaging Het
Manba T A 3: 135,256,952 (GRCm39) D538E probably benign Het
Mcc C A 18: 44,624,382 (GRCm39) E213* probably null Het
Mfap4 T C 11: 61,376,633 (GRCm39) probably null Het
Muc21 A T 17: 35,929,600 (GRCm39) S1529T probably benign Het
Nebl T A 2: 17,457,321 (GRCm39) I80F probably damaging Het
Nek4 A G 14: 30,678,910 (GRCm39) I145V probably damaging Het
Nlrp14 T C 7: 106,795,407 (GRCm39) V230A probably benign Het
Nxf3 G A X: 134,976,583 (GRCm39) P380S possibly damaging Het
Or11h6 G A 14: 50,880,323 (GRCm39) C195Y possibly damaging Het
Or1a1 T C 11: 74,086,989 (GRCm39) V220A probably damaging Het
Or5b99 T C 19: 12,976,866 (GRCm39) V172A possibly damaging Het
Or5p66 C A 7: 107,885,566 (GRCm39) G256* probably null Het
Or6k8-ps1 C T 1: 173,979,687 (GRCm39) H202Y probably damaging Het
Pcdhb13 C T 18: 37,576,912 (GRCm39) T430I possibly damaging Het
Piezo2 A T 18: 63,207,733 (GRCm39) L1426Q probably null Het
Pigk T A 3: 152,450,131 (GRCm39) Y212N probably damaging Het
Pigm T G 1: 172,204,828 (GRCm39) L188R probably damaging Het
Plce1 T C 19: 38,766,368 (GRCm39) F2117S probably damaging Het
Plec A G 15: 76,057,743 (GRCm39) F4055L probably damaging Het
Plk5 C T 10: 80,198,936 (GRCm39) S435L possibly damaging Het
Pms1 G A 1: 53,321,201 (GRCm39) L11F probably damaging Het
Prl3b1 C T 13: 27,431,895 (GRCm39) T140I possibly damaging Het
Prl7a1 T G 13: 27,817,655 (GRCm39) D203A probably damaging Het
Psg17 A G 7: 18,548,577 (GRCm39) V398A probably benign Het
Pum1 T A 4: 130,445,529 (GRCm39) I166K possibly damaging Het
R3hdm1 T A 1: 128,096,753 (GRCm39) D108E probably damaging Het
Reln A T 5: 22,174,358 (GRCm39) D1948E possibly damaging Het
Rnf112 C T 11: 61,343,252 (GRCm39) R141Q probably damaging Het
Rnf145 T C 11: 44,452,293 (GRCm39) V424A possibly damaging Het
Serpina3m C A 12: 104,355,958 (GRCm39) Y208* probably null Het
Serpind1 T C 16: 17,160,808 (GRCm39) V446A probably benign Het
Shc3 T A 13: 51,596,872 (GRCm39) M384L probably benign Het
Slc38a11 A G 2: 65,160,683 (GRCm39) F304L probably benign Het
Slpi C T 2: 164,197,463 (GRCm39) C28Y probably damaging Het
Specc1 C A 11: 61,920,120 (GRCm39) P7T possibly damaging Het
Spib T C 7: 44,178,281 (GRCm39) E180G probably benign Het
Spint5 T C 2: 164,558,903 (GRCm39) probably benign Het
Ssr2 T A 3: 88,484,174 (GRCm39) probably benign Het
Tbrg1 T C 9: 37,560,715 (GRCm39) D387G probably benign Het
Tex14 T G 11: 87,440,296 (GRCm39) L1367R probably damaging Het
Tfpi A C 2: 84,288,360 (GRCm39) probably benign Het
Tlr5 T A 1: 182,801,912 (GRCm39) D405E probably damaging Het
Tnnt3 C T 7: 142,065,262 (GRCm39) R131C possibly damaging Het
Tnxb T C 17: 34,890,878 (GRCm39) V407A probably damaging Het
Tnxb A G 17: 34,901,225 (GRCm39) Y1013C probably damaging Het
Tpx2 T A 2: 152,732,544 (GRCm39) M606K probably benign Het
Trim30a T A 7: 104,079,437 (GRCm39) probably benign Het
Trim46 A T 3: 89,145,008 (GRCm39) Y489N probably damaging Het
Trpm6 A T 19: 18,773,648 (GRCm39) H380L probably benign Het
Tstd2 A G 4: 46,120,563 (GRCm39) I279T probably benign Het
Ttn C T 2: 76,776,735 (GRCm39) probably null Het
Txnl1 T C 18: 63,812,585 (GRCm39) T70A probably benign Het
Ush2a C T 1: 188,310,729 (GRCm39) probably benign Het
Usp1 A G 4: 98,822,531 (GRCm39) D615G probably benign Het
Virma T A 4: 11,519,242 (GRCm39) C830S probably benign Het
Vmn1r7 A T 6: 57,001,853 (GRCm39) S136T probably benign Het
Vmn2r9 A G 5: 108,994,305 (GRCm39) V448A probably damaging Het
Vps11 G A 9: 44,270,524 (GRCm39) H183Y probably damaging Het
Vsig10l A G 7: 43,116,892 (GRCm39) T476A possibly damaging Het
Whamm C T 7: 81,241,519 (GRCm39) R277* probably null Het
Wnt8a A G 18: 34,677,937 (GRCm39) D115G probably damaging Het
Xndc1 T A 7: 101,722,398 (GRCm39) V21E probably damaging Het
Zc3hav1 C A 6: 38,313,452 (GRCm39) V198L probably damaging Het
Zfp874a T A 13: 67,590,623 (GRCm39) I354F probably benign Het
Zfr2 A T 10: 81,078,686 (GRCm39) D306V possibly 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
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
R6172:Cd81 UTSW 7 142,606,691 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- CCTGTGACAAAAGGCTGCAG -3'
(R):5'- TCTGGTGCAATGCAAAGGGC -3'

Sequencing Primer
(F):5'- AGCAGGTCCGTGTGTCTTAAATTTG -3'
(R):5'- CCTCAGTACACGGAGCTGTTC -3'
Posted On 2014-08-25