Incidental Mutation 'R8670:Cd82'
ID 661082
Institutional Source Beutler Lab
Gene Symbol Cd82
Ensembl Gene ENSMUSG00000027215
Gene Name CD82 antigen
Synonyms C33, Kai1, Tspan27
MMRRC Submission 068525-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R8670 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 93249447-93293295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 93250905 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 212 (T212S)
Ref Sequence ENSEMBL: ENSMUSP00000028644 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028644] [ENSMUST00000099696] [ENSMUST00000111257] [ENSMUST00000116457] [ENSMUST00000123565] [ENSMUST00000145553] [ENSMUST00000150508]
AlphaFold P40237
Predicted Effect probably benign
Transcript: ENSMUST00000028644
AA Change: T212S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028644
Gene: ENSMUSG00000027215
AA Change: T212S

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099696
AA Change: T212S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097287
Gene: ENSMUSG00000027215
AA Change: T212S

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 255 1.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111257
AA Change: T212S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106888
Gene: ENSMUSG00000027215
AA Change: T212S

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116457
AA Change: T212S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112158
Gene: ENSMUSG00000027215
AA Change: T212S

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123565
SMART Domains Protein: ENSMUSP00000114762
Gene: ENSMUSG00000027215

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 178 1.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145553
SMART Domains Protein: ENSMUSP00000115310
Gene: ENSMUSG00000027215

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 146 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150508
SMART Domains Protein: ENSMUSP00000120183
Gene: ENSMUSG00000027215

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 146 1.5e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 96.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This metastasis suppressor gene product is a membrane glycoprotein that is a member of the transmembrane 4 superfamily. Expression of this gene has been shown to be downregulated in tumor progression of human cancers and can be activated by p53 through a consensus binding sequence in the promoter. Its expression and that of p53 are strongly correlated, and the loss of expression of these two proteins is associated with poor survival for prostate cancer patients. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased pathalogical angiogenesis with increased vascular endothelial cell migration and invasion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,966,424 (GRCm39) L403Q probably damaging Het
Actl11 T C 9: 107,805,959 (GRCm39) F94S possibly damaging Het
Adam34 C T 8: 44,105,126 (GRCm39) C173Y possibly damaging Het
Ankrd24 C T 10: 81,465,526 (GRCm39) probably benign Het
Armh2 A G 13: 24,930,240 (GRCm39) E162G probably benign Het
Atp12a A T 14: 56,617,546 (GRCm39) D612V probably damaging Het
Cacna2d1 T C 5: 16,140,013 (GRCm39) M1T probably null Het
Ccdc178 T C 18: 22,230,719 (GRCm39) E384G possibly damaging Het
Cdk17 T A 10: 93,061,958 (GRCm39) L263* probably null Het
Cfap57 T G 4: 118,472,122 (GRCm39) I86L possibly damaging Het
Chd5 T C 4: 152,469,953 (GRCm39) M1842T possibly damaging Het
Clcn7 T C 17: 25,378,588 (GRCm39) F691S probably damaging Het
Cpvl A T 6: 53,951,780 (GRCm39) M1K probably null Het
Cym T C 3: 107,118,812 (GRCm39) probably null Het
Diaph3 T C 14: 86,893,835 (GRCm39) E1147G probably benign Het
Eif4g3 T G 4: 137,885,823 (GRCm39) probably null Het
Esp3 A G 17: 40,943,040 (GRCm39) D11G probably benign Het
Exoc1 A G 5: 76,717,505 (GRCm39) Y865C probably damaging Het
Flg2 A T 3: 93,108,791 (GRCm39) Q273L probably damaging Het
Fuca1 G A 4: 135,650,282 (GRCm39) V118I possibly damaging Het
Gga3 T C 11: 115,478,542 (GRCm39) N417D probably benign Het
Il1rl1 A T 1: 40,480,559 (GRCm39) I63F probably damaging Het
Kif26b A G 1: 178,741,349 (GRCm39) Y785C probably damaging Het
Kif5b A C 18: 6,214,631 (GRCm39) S599A probably benign Het
Klhl22 T A 16: 17,594,327 (GRCm39) I152N probably damaging Het
Mex3c GC G 18: 73,722,776 (GRCm39) probably null Het
Muc21 T A 17: 35,932,540 (GRCm39) T549S unknown Het
Or52n2c A T 7: 104,574,419 (GRCm39) M184K probably damaging Het
Or8g2 A G 9: 39,821,719 (GRCm39) I207V probably benign Het
Orc3 A T 4: 34,572,529 (GRCm39) I633N probably damaging Het
Pclo G A 5: 14,732,061 (GRCm39) R3521H unknown Het
Plec A G 15: 76,061,726 (GRCm39) L2737P probably damaging Het
Prom1 T A 5: 44,159,186 (GRCm39) I813F probably benign Het
Prpf40b T A 15: 99,207,621 (GRCm39) M517K probably damaging Het
Rab8a TA TAA 8: 72,925,130 (GRCm39) probably null Het
Rnf213 T C 11: 119,349,563 (GRCm39) L3808P Het
Scnn1b A G 7: 121,498,472 (GRCm39) K4R probably benign Het
Siglec1 A G 2: 130,923,387 (GRCm39) S453P probably damaging Het
Sim1 A G 10: 50,784,849 (GRCm39) K165E probably damaging Het
Slc49a4 G T 16: 35,556,005 (GRCm39) Q152K possibly damaging Het
Slco1a7 G A 6: 141,711,468 (GRCm39) T81I possibly damaging Het
Smarce1 T C 11: 99,101,098 (GRCm39) T345A possibly damaging Het
Spty2d1 T C 7: 46,647,519 (GRCm39) N470S probably benign Het
Stab2 T A 10: 86,776,587 (GRCm39) D763V probably damaging Het
Tbl1xr1 A T 3: 22,245,164 (GRCm39) E171D probably damaging Het
Tenm4 C T 7: 96,555,148 (GRCm39) P2618S probably benign Het
Tex15 T A 8: 34,064,746 (GRCm39) I1392K probably benign Het
Thada T C 17: 84,739,774 (GRCm39) E827G probably benign Het
Ttc3 A G 16: 94,191,067 (GRCm39) Y185C probably damaging Het
Vmn2r18 C A 5: 151,485,854 (GRCm39) D547Y probably damaging Het
Wdpcp T C 11: 21,645,196 (GRCm39) V208A probably benign Het
Zfp322a T A 13: 23,541,274 (GRCm39) Q156L possibly damaging Het
Zfp947 T C 17: 22,364,687 (GRCm39) D329G probably benign Het
Other mutations in Cd82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00540:Cd82 APN 2 93,251,004 (GRCm39) missense probably null 0.89
R0007:Cd82 UTSW 2 93,264,226 (GRCm39) missense probably benign
R1762:Cd82 UTSW 2 93,267,774 (GRCm39) missense probably damaging 0.98
R4428:Cd82 UTSW 2 93,250,214 (GRCm39) missense probably damaging 1.00
R6495:Cd82 UTSW 2 93,260,357 (GRCm39) missense probably benign 0.00
R6773:Cd82 UTSW 2 93,252,221 (GRCm39) missense probably benign 0.00
R8737:Cd82 UTSW 2 93,252,239 (GRCm39) missense probably damaging 0.99
R9435:Cd82 UTSW 2 93,267,740 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTCATGTCAGCCTCTGCAC -3'
(R):5'- GTCAGCCACTACAACTGGAC -3'

Sequencing Primer
(F):5'- TCTGCACACAGCTGCAG -3'
(R):5'- ACTACAACTGGACAGAGAACG -3'
Posted On 2021-03-08