Mutagenetix > Incidental Mutation

Incidental Mutation 'R5212:Cd63'

403190

Institutional Source

Beutler Lab

Gene Symbol

Cd63

Ensembl Gene

ENSMUSG00000025351

Gene Name

CD63 antigen

Synonyms

Tspan30, ME491

MMRRC Submission

042786-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128736858-128748691 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128747722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 105 (Y105C)

Ref Sequence

ENSEMBL: ENSMUSP00000151955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026406] [ENSMUST00000026407] [ENSMUST00000105229] [ENSMUST00000137747] [ENSMUST00000149961] [ENSMUST00000219317] [ENSMUST00000220308]

AlphaFold

P41731

Predicted Effect

probably benign
Transcript: ENSMUST00000026406

SMART Domains

Protein: ENSMUSP00000026406
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:adh_short	29	194	3.6e-23	PFAM
Pfam:adh_short_C2	35	230	6.6e-10	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000026407
AA Change: Y105C

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

SMART Domains

Protein: ENSMUSP00000026407
Gene: ENSMUSG00000025351
AA Change: Y105C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	231	1.3e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000105229
AA Change: Y105C

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

SMART Domains

Protein: ENSMUSP00000100862
Gene: ENSMUSG00000025351
AA Change: Y105C

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	9	231	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000137747

SMART Domains

Protein: ENSMUSP00000116558
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
PDB:2JAP\|D	1	80	6e-11	PDB
SCOP:d1hu4a_	1	151	1e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139217

Predicted Effect

probably benign
Transcript: ENSMUST00000149961

SMART Domains

Protein: ENSMUSP00000123183
Gene: ENSMUSG00000025350

Domain	Start	End	E-Value	Type
Pfam:adh_short	2	124	4e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218450

Predicted Effect

probably damaging
Transcript: ENSMUST00000219317
AA Change: Y105C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000220308
AA Change: Y105C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220245

Meta Mutation Damage Score

0.9559

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

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. The encoded protein is a cell surface glycoprotein that is known to complex with integrins. It may function as a blood platelet activation marker. Deficiency of this protein is associated with Hermansky-Pudlak syndrome. Also this gene has been associated with tumor progression. Alternative splicing results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous null mice are viable and fertile without gross morphological abnormalities, but show an altered water balance, indicated by an increased urinary flow, water intake, reduced urine osmolality, and a higher fecal water content. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,771,611 (GRCm39)	S267T	possibly damaging	Het
Abca9	T	C	11: 109,998,052 (GRCm39)	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,584,980 (GRCm39)	D896V	probably damaging	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,733,843 (GRCm39)	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,778,388 (GRCm39)	E46G	probably benign	Het
Atg2b	A	G	12: 105,613,055 (GRCm39)	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,417,886 (GRCm39)	K217N	probably damaging	Het
Birc6	A	C	17: 74,977,369 (GRCm39)	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,328,919 (GRCm39)	A845V	probably damaging	Het
Cdk11b	T	C	4: 155,723,072 (GRCm39)		probably null	Het
Clip1	T	A	5: 123,768,744 (GRCm39)	R618S	probably benign	Het
Crybg1	A	T	10: 43,843,739 (GRCm39)	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,390,923 (GRCm39)	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,374,240 (GRCm39)	E180G	probably damaging	Het
F13b	A	T	1: 139,440,725 (GRCm39)	I394F	probably benign	Het
Fnta	A	G	8: 26,499,735 (GRCm39)	I155T	probably benign	Het
Fshr	T	A	17: 89,293,685 (GRCm39)	E331V	probably benign	Het
Fshr	T	A	17: 89,293,684 (GRCm39)	E331D	probably benign	Het
Gas2l1	A	T	11: 5,011,108 (GRCm39)	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,744,847 (GRCm39)		probably benign	Het
Gm3371	A	C	14: 44,641,111 (GRCm39)		probably benign	Het
Gm7489	T	A	15: 53,749,016 (GRCm39)		probably benign	Het
Hand1	A	C	11: 57,722,273 (GRCm39)	F114V	probably damaging	Het
Itga4	A	C	2: 79,110,939 (GRCm39)	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,262,245 (GRCm39)	H183L	probably benign	Het
Kifbp	A	T	10: 62,398,908 (GRCm39)		probably benign	Het
Krt8	G	T	15: 101,906,402 (GRCm39)	A369D	possibly damaging	Het
Krt82	T	C	15: 101,453,484 (GRCm39)	S301G	probably damaging	Het
Lig3	A	G	11: 82,678,504 (GRCm39)	T248A	probably benign	Het
Madcam1	C	G	10: 79,504,179 (GRCm39)	T255S	probably benign	Het
Med20	T	C	17: 47,929,775 (GRCm39)	Y71H	probably benign	Het
Mtss2	A	G	8: 111,455,850 (GRCm39)	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547 (GRCm39)	F328S	possibly damaging	Het
Ncbp3	A	G	11: 72,944,373 (GRCm39)		probably benign	Het
Nek8	T	C	11: 78,063,342 (GRCm39)	M1V	probably null	Het
Nufip1	A	T	14: 76,370,538 (GRCm39)	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,178,793 (GRCm39)		probably benign	Het
Plppr3	C	T	10: 79,698,279 (GRCm39)	G419R	probably benign	Het
Rfx1	G	T	8: 84,793,221 (GRCm39)		probably benign	Het
Rnpepl1	C	T	1: 92,839,045 (GRCm39)	A68V	probably benign	Het
Rsbn1l	A	T	5: 21,101,212 (GRCm39)	M776K	probably benign	Het
Setd7	A	T	3: 51,450,238 (GRCm39)	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Snap47	T	C	11: 59,319,178 (GRCm39)	E320G	probably damaging	Het
Spaca6	C	A	17: 18,058,656 (GRCm39)	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,743,651 (GRCm39)	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,377,492 (GRCm39)	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,330,460 (GRCm39)	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,876,161 (GRCm39)	Q27L	probably benign	Het
Ttn	C	T	2: 76,731,957 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,619,945 (GRCm39)	I15908V	probably benign	Het
Ttn	T	A	2: 76,628,019 (GRCm39)	D12931V	probably damaging	Het
Ush2a	T	A	1: 188,176,902 (GRCm39)		probably null	Het
Wls	A	G	3: 159,578,645 (GRCm39)	N69S	probably benign	Het

Other mutations in Cd63

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02259:Cd63	APN	10	128,747,843 (GRCm39)	missense	probably benign	0.01
IGL02683:Cd63	APN	10	128,746,299 (GRCm39)	missense	probably damaging	1.00
R5775:Cd63	UTSW	10	128,746,299 (GRCm39)	missense	probably damaging	0.99
R5888:Cd63	UTSW	10	128,748,160 (GRCm39)	splice site	probably null
R6180:Cd63	UTSW	10	128,747,933 (GRCm39)	critical splice donor site	probably null
R6526:Cd63	UTSW	10	128,747,358 (GRCm39)	missense	probably benign	0.01
R7300:Cd63	UTSW	10	128,748,034 (GRCm39)	missense	probably benign	0.00
R8791:Cd63	UTSW	10	128,748,071 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCGGAAGCCTTTTCTGTGG -3'
(R):5'- GAGAATCTTCTATCCCGGCTAACC -3'

Sequencing Primer
(F):5'- CGGAAGCCTTTTCTGTGGTGAAG -3'
(R):5'- TGGGTGCTGTAGAGAACA -3'

Posted On

2016-07-22