Mutagenetix > Incidental Mutation

Incidental Mutation 'R4428:Cd82'

328259

Institutional Source

Beutler Lab

Gene Symbol

Cd82

Ensembl Gene

ENSMUSG00000027215

Gene Name

CD82 antigen

Synonyms

C33, Kai1, Tspan27

MMRRC Submission

041698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R4428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93249447-93293295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93250214 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 266 (Y266C)

Ref Sequence

ENSEMBL: ENSMUSP00000112158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028644] [ENSMUST00000099696] [ENSMUST00000111257] [ENSMUST00000116457] [ENSMUST00000123565] [ENSMUST00000145553] [ENSMUST00000150508]

AlphaFold

P40237

Predicted Effect

probably damaging
Transcript: ENSMUST00000028644
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028644
Gene: ENSMUSG00000027215
AA Change: Y266C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	255	4.1e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000099696
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000097287
Gene: ENSMUSG00000027215
AA Change: Y266C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	7	255	1.6e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111257
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106888
Gene: ENSMUSG00000027215
AA Change: Y266C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	255	4.1e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116457
AA Change: Y266C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112158
Gene: ENSMUSG00000027215
AA Change: Y266C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	255	4.1e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123565

SMART Domains

Protein: ENSMUSP00000114762
Gene: ENSMUSG00000027215

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	178	1.1e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184769

Predicted Effect

probably benign
Transcript: ENSMUST00000145553

SMART Domains

Protein: ENSMUSP00000115310
Gene: ENSMUSG00000027215

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	146	1.5e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000150508

SMART Domains

Protein: ENSMUSP00000120183
Gene: ENSMUSG00000027215

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	146	1.5e-31	PFAM

Meta Mutation Damage Score

0.4761

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (46/46)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
Abcc1	T	A	16: 14,263,164 (GRCm39)	V708E	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Ccdc18	A	G	5: 108,283,943 (GRCm39)	Y82C	probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Cmpk1	T	C	4: 114,820,559 (GRCm39)	E180G	probably benign	Het
Dock8	T	C	19: 25,177,863 (GRCm39)	I2066T	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Fgf3	T	C	7: 144,394,444 (GRCm39)	V86A	probably damaging	Het
Frem2	A	G	3: 53,561,759 (GRCm39)	I916T	probably benign	Het
Gsk3b	T	A	16: 38,014,298 (GRCm39)	L252Q	probably damaging	Het
Kif18a	A	G	2: 109,118,466 (GRCm39)	T94A	probably damaging	Het
Klhdc1	T	A	12: 69,315,000 (GRCm39)		probably benign	Het
Klhl25	T	A	7: 75,515,162 (GRCm39)	F23I	probably damaging	Het
Mapk7	T	C	11: 61,380,055 (GRCm39)	D701G	possibly damaging	Het
Mbd5	A	T	2: 49,169,776 (GRCm39)	Q47L	possibly damaging	Het
Nrcam	A	G	12: 44,623,558 (GRCm39)	D1049G	possibly damaging	Het
Olfml2a	G	T	2: 38,831,755 (GRCm39)	M111I	probably damaging	Het
Or3a1c	T	C	11: 74,046,025 (GRCm39)	F15S	probably damaging	Het
Pld2	A	T	11: 70,432,160 (GRCm39)	H93L	probably damaging	Het
Pomgnt2	T	C	9: 121,811,320 (GRCm39)	E487G	possibly damaging	Het
Psg17	G	T	7: 18,550,717 (GRCm39)	N379K	probably benign	Het
Rfk	T	A	19: 17,375,959 (GRCm39)	H84Q	possibly damaging	Het
Scn8a	A	G	15: 100,881,784 (GRCm39)	Y617C	probably damaging	Het
Sema3d	T	C	5: 12,498,087 (GRCm39)	F31S	probably benign	Het
Shq1	T	C	6: 100,647,889 (GRCm39)	Y45C	probably damaging	Het
Siglecg	C	T	7: 43,067,350 (GRCm39)	P639L	possibly damaging	Het
Skp2	A	T	15: 9,117,034 (GRCm39)	N325K	probably benign	Het
Sost	G	A	11: 101,857,670 (GRCm39)	P44S	probably damaging	Het
Sp8	T	A	12: 118,812,938 (GRCm39)	S264R	possibly damaging	Het
Sun1	T	C	5: 139,220,230 (GRCm39)		probably benign	Het
Tardbp	A	G	4: 148,709,659 (GRCm39)	V54A	possibly damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem68	A	T	4: 3,569,534 (GRCm39)	I52K	probably benign	Het
Trhde	A	T	10: 114,339,028 (GRCm39)	L594Q	probably damaging	Het
Umps	A	C	16: 33,781,956 (GRCm39)	V322G	probably damaging	Het
Vmn2r109	T	C	17: 20,773,286 (GRCm39)	D445G	probably benign	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vmn2r4	C	T	3: 64,322,590 (GRCm39)	G43E	probably damaging	Het

Other mutations in Cd82

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCCATATTGGTGGCAGAAGGAC -3'
(R):5'- ACGTCAGATTGGGTACTGTCC -3'

Sequencing Primer
(F):5'- GACAGGGAGAAGGGCCC -3'
(R):5'- TCTGGGCCTCCTTCAGCAG -3'

Posted On

2015-07-07