Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Cd82'

64844

Institutional Source

Beutler Lab

Gene Symbol

Cd82

Ensembl Gene

ENSMUSG00000027215

Gene Name

CD82 antigen

Synonyms

C33, Kai1, Tspan27

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

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

Stock #

R0007 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

93249447-93293295 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93264226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 39 (N39S)

Ref Sequence

ENSEMBL: ENSMUSP00000120183 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028644] [ENSMUST00000099696] [ENSMUST00000111256] [ENSMUST00000111257] [ENSMUST00000116457] [ENSMUST00000123565] [ENSMUST00000124804] [ENSMUST00000150508] [ENSMUST00000145553]

AlphaFold

P40237

Predicted Effect

probably benign
Transcript: ENSMUST00000028644
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028644
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000099696
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097287
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111256
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106887
Gene: ENSMUSG00000027215
AA Change: N39S

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	88	2.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111257
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106888
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000116457
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112158
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123565
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114762
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124804

Predicted Effect

probably benign
Transcript: ENSMUST00000150508
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120183
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145553
AA Change: N39S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000115310
Gene: ENSMUSG00000027215
AA Change: N39S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144168

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (38/38)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,562 (GRCm39)	Y543N	probably damaging	Het
Adgrb3	C	A	1: 25,150,772 (GRCm39)		probably null	Het
AI504432	T	A	3: 106,956,152 (GRCm39)		noncoding transcript	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Cyp2c66	T	A	19: 39,159,402 (GRCm39)	C284*	probably null	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
Gm5600	T	A	7: 113,307,010 (GRCm39)		noncoding transcript	Het
Hephl1	A	T	9: 14,997,471 (GRCm39)	D398E	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Mtrr	A	T	13: 68,723,449 (GRCm39)	F154L	probably benign	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nelfe	A	G	17: 35,072,962 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Nos1	T	C	5: 118,048,153 (GRCm39)	S653P	probably damaging	Het
Or5p76	A	G	7: 108,122,420 (GRCm39)	S246P	probably damaging	Het
Or8b101	A	T	9: 38,020,390 (GRCm39)	Y131F	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Ralgps1	A	G	2: 33,033,401 (GRCm39)	S393P	probably damaging	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Slc4a4	G	A	5: 89,186,437 (GRCm39)	D173N	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Srgap3	A	G	6: 112,806,473 (GRCm39)	Y63H	probably damaging	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Ttn	C	T	2: 76,710,548 (GRCm39)		probably benign	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
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
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'- AGCTTCAGCCTGCATTTCACTACAC -3'
(R):5'- TGGACATTCTCTGGACGGAGGTAAC -3'

Sequencing Primer
(F):5'- CTATGTGTGAAGAGAATGAGTCCCTC -3'
(R):5'- GACGGAGGTAACACCTATGAATCC -3'

Posted On

2013-08-06