Incidental Mutation 'R6773:Cd82'
ID 532229
Institutional Source Beutler Lab
Gene Symbol Cd82
Ensembl Gene ENSMUSG00000027215
Gene Name CD82 antigen
Synonyms C33, Kai1, Tspan27
MMRRC Submission 044889-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R6773 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 93249447-93293295 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93252221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 130 (A130V)
Ref Sequence ENSEMBL: ENSMUSP00000114762 (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: A130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028644
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099696
AA Change: A130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000097287
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 7 255 1.6e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111257
AA Change: A130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000106888
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116457
AA Change: A130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112158
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 255 4.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123565
AA Change: A130V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114762
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 178 1.1e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145553
AA Change: A130V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115310
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 146 1.5e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150508
AA Change: A130V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000120183
Gene: ENSMUSG00000027215
AA Change: A130V

DomainStartEndE-ValueType
Pfam:Tetraspannin 8 146 1.5e-31 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.8%
  • 20x: 96.8%
Validation Efficiency 98% (44/45)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrm1b T A 3: 92,336,556 (GRCm39) I49F probably damaging Het
Aqp6 A G 15: 99,500,558 (GRCm39) D161G probably damaging Het
Aqr A T 2: 113,979,477 (GRCm39) N319K possibly damaging Het
Asns C A 6: 7,676,284 (GRCm39) R424L probably benign Het
Atp4a T C 7: 30,414,802 (GRCm39) V197A probably damaging Het
Ccdc70 A G 8: 22,463,321 (GRCm39) E37G probably damaging Het
Ccdc88b A T 19: 6,826,409 (GRCm39) V1102E possibly damaging Het
Cfap46 T C 7: 139,222,477 (GRCm39) probably benign Het
Cnot6l A C 5: 96,242,158 (GRCm39) C188W probably damaging Het
Cxcr6 A T 9: 123,639,355 (GRCm39) T119S possibly damaging Het
Dok7 G A 5: 35,234,528 (GRCm39) R193H probably damaging Het
Dpy19l1 A T 9: 24,352,068 (GRCm39) S386T probably damaging Het
Frem3 A C 8: 81,338,444 (GRCm39) T246P probably damaging Het
Gm29666 A T 15: 84,798,360 (GRCm39) I67K unknown Het
Gpr153 T A 4: 152,363,757 (GRCm39) V59E probably damaging Het
Inpp4b G A 8: 82,583,249 (GRCm39) probably benign Het
Kcnj13 T C 1: 87,314,482 (GRCm39) I247V possibly damaging Het
Klri1 C T 6: 129,680,510 (GRCm39) V91M possibly damaging Het
M1ap T A 6: 82,945,061 (GRCm39) D118E probably damaging Het
Map4 T C 9: 109,863,993 (GRCm39) V406A probably benign Het
Nedd4l T C 18: 65,300,622 (GRCm39) V369A probably benign Het
Or5ac24 A T 16: 59,165,579 (GRCm39) L162I probably damaging Het
Otud4 A G 8: 80,370,435 (GRCm39) Y71C possibly damaging Het
Plcl1 A G 1: 55,790,461 (GRCm39) N1044D probably benign Het
Ppp4r3b T A 11: 29,155,639 (GRCm39) M114K probably benign Het
Prune1 T C 3: 95,171,082 (GRCm39) D114G probably damaging Het
Rad54l2 A T 9: 106,570,516 (GRCm39) V1268D probably benign Het
Rbbp6 A G 7: 122,598,578 (GRCm39) probably benign Het
Rimbp3 A T 16: 17,026,879 (GRCm39) E101V probably damaging Het
Rit1 C T 3: 88,633,676 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Homo
Shisa9 A G 16: 11,802,892 (GRCm39) T150A probably damaging Het
Smpdl3a T C 10: 57,678,533 (GRCm39) V112A probably damaging Het
Strada T A 11: 106,055,733 (GRCm39) I305F probably damaging Het
Svep1 C T 4: 58,049,146 (GRCm39) E3454K possibly damaging Het
Tfap2a T A 13: 40,882,230 (GRCm39) N25I probably damaging Het
Tmem259 T C 10: 79,813,422 (GRCm39) D519G possibly damaging Het
Tns1 T C 1: 73,958,866 (GRCm39) Q445R probably damaging Het
Topbp1 A G 9: 103,220,891 (GRCm39) D20G possibly damaging Het
Trbv5 G T 6: 41,039,551 (GRCm39) W52L probably damaging Het
Trpc6 A T 9: 8,634,058 (GRCm39) H379L probably damaging Het
Tulp1 T C 17: 28,581,876 (GRCm39) K193E probably damaging Het
Unc80 T C 1: 66,690,702 (GRCm39) V2459A probably benign Het
Vps50 T C 6: 3,592,560 (GRCm39) V731A 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
R8670:Cd82 UTSW 2 93,250,905 (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'- GTTCTGTGACACCAGGAAGG -3'
(R):5'- TCACCAGGACAGTGGATGTTC -3'

Sequencing Primer
(F):5'- GGACAACCTTTCCAGGGTC -3'
(R):5'- ATGTTCTGCAGCCATGAGC -3'
Posted On 2018-08-29