Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Cd151'

99718

Institutional Source

Beutler Lab

Gene Symbol

Cd151

Ensembl Gene

ENSMUSG00000025510

Gene Name

CD151 antigen

Synonyms

SFA-1, Tspan24, PETA-3

MMRRC Submission

039246-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.184) question?

Stock #

R1173 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

141047305-141051386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 141050569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 241 (T241P)

Ref Sequence

ENSEMBL: ENSMUSP00000136331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000043870] [ENSMUST00000053670] [ENSMUST00000058746] [ENSMUST00000106000] [ENSMUST00000177840] [ENSMUST00000209988] [ENSMUST00000211071] [ENSMUST00000209892] [ENSMUST00000170879] [ENSMUST00000146305] [ENSMUST00000138092]

AlphaFold

O35566

Predicted Effect

probably benign
Transcript: ENSMUST00000026585

SMART Domains

Protein: ENSMUSP00000026585
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	230	4.7e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000043870

SMART Domains

Protein: ENSMUSP00000043204
Gene: ENSMUSG00000038489

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_N	1	59	1.1e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053670

SMART Domains

Protein: ENSMUSP00000055899
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	312	N/A	INTRINSIC
low complexity region	324	346	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058746
AA Change: T241P

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

SMART Domains

Protein: ENSMUSP00000061636
Gene: ENSMUSG00000025510
AA Change: T241P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.7e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097947

Predicted Effect

probably damaging
Transcript: ENSMUST00000106000
AA Change: T241P

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

SMART Domains

Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510
AA Change: T241P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000116247

Predicted Effect

probably damaging
Transcript: ENSMUST00000177840
AA Change: T241P

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

SMART Domains

Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510
AA Change: T241P

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	15	248	1.5e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210058

Predicted Effect

probably benign
Transcript: ENSMUST00000209988

Predicted Effect

probably benign
Transcript: ENSMUST00000211071

Predicted Effect

probably benign
Transcript: ENSMUST00000209892

Predicted Effect

probably benign
Transcript: ENSMUST00000170879

SMART Domains

Protein: ENSMUSP00000129946
Gene: ENSMUSG00000048200

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
EFh	32	60	2.71e0	SMART
EFh	66	94	2.63e0	SMART
low complexity region	108	126	N/A	INTRINSIC
coiled coil region	167	219	N/A	INTRINSIC
low complexity region	236	249	N/A	INTRINSIC
low complexity region	275	287	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146305

SMART Domains

Protein: ENSMUSP00000118533
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	158	2.5e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138092

SMART Domains

Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	154	1.8e-38	PFAM

Meta Mutation Damage Score

0.4919

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

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. This encoded protein is a cell surface glycoprotein that is known to complex with integrins and other transmembrane 4 superfamily proteins. It is involved in cellular processes including cell adhesion and may regulate integrin trafficking and/or function. This protein enhances cell motility, invasion and metastasis of cancer cells. Multiple alternatively spliced transcript variants that encode the same protein have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for mutations in this gene display increased bleeding time, impaired keratinocyte migration, hyperproliferation of stimulated T cells, impaired pathologic angiogenesis in several in vivo assays, and kidney abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	T	2: 93,696,589 (GRCm39)		probably benign	Het
Adam30	G	A	3: 98,070,222 (GRCm39)	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,843 (GRCm39)	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,837 (GRCm39)	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,749,409 (GRCm39)	I186N	probably damaging	Het
Amz1	A	T	5: 140,737,691 (GRCm39)		probably null	Het
Anapc5	G	A	5: 122,926,481 (GRCm39)	A619V	possibly damaging	Het
Aoc1l3	C	A	6: 48,967,173 (GRCm39)	P707H	probably damaging	Het
Bbox1	T	C	2: 110,095,956 (GRCm39)	D336G	probably damaging	Het
Bivm	A	G	1: 44,165,942 (GRCm39)	T131A	probably benign	Het
Bpi	A	T	2: 158,109,660 (GRCm39)	I203F	probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Cdh23	G	A	10: 60,148,171 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,711,192 (GRCm39)	S240A	probably benign	Het
Ddc	A	C	11: 11,796,634 (GRCm39)		probably null	Het
Dkk1	T	C	19: 30,524,650 (GRCm39)	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,573,738 (GRCm39)	M191K	possibly damaging	Het
Eml6	A	G	11: 29,699,824 (GRCm39)	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,165,353 (GRCm39)		probably benign	Het
Fah	T	C	7: 84,250,344 (GRCm39)	M1V	probably null	Het
Fmo6	A	T	1: 162,753,710 (GRCm39)	M144K	probably damaging	Het
Frem1	A	G	4: 82,868,589 (GRCm39)	V1445A	probably benign	Het
Fsd2	T	C	7: 81,209,518 (GRCm39)	D108G	probably benign	Het
Gfm2	A	G	13: 97,301,708 (GRCm39)		probably null	Het
Ghrhr	T	A	6: 55,365,254 (GRCm39)	L416*	probably null	Het
Glipr1l2	C	A	10: 111,919,371 (GRCm39)	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,748,550 (GRCm39)		probably benign	Het
Gpr149	A	G	3: 62,511,888 (GRCm39)	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,202,693 (GRCm39)	I131T	probably damaging	Het
Htra4	T	C	8: 25,520,635 (GRCm39)	D342G	possibly damaging	Het
Idh1	G	T	1: 65,200,319 (GRCm39)	N348K	probably benign	Het
Impdh2	T	C	9: 108,439,028 (GRCm39)	F99S	probably benign	Het
Kank4	T	C	4: 98,653,806 (GRCm39)	Y874C	probably damaging	Het
Kazn	A	T	4: 141,886,349 (GRCm39)		probably benign	Het
Kcnq3	T	A	15: 65,871,891 (GRCm39)	T593S	probably benign	Het
Lamc1	T	C	1: 153,122,977 (GRCm39)		probably benign	Het
Magi3	A	G	3: 103,968,946 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,751,617 (GRCm39)	V578A	probably benign	Het
Meox2	T	C	12: 37,159,151 (GRCm39)	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,079,860 (GRCm39)	C722F	probably damaging	Het
Or2a5	T	C	6: 42,874,285 (GRCm39)	V300A	probably benign	Het
Pde10a	C	T	17: 9,139,378 (GRCm39)		probably benign	Het
Ppfia4	A	G	1: 134,260,021 (GRCm39)		probably benign	Het
Psg18	T	C	7: 18,088,742 (GRCm39)	M1V	probably null	Het
Qtrt1	A	G	9: 21,323,782 (GRCm39)	T136A	probably benign	Het
Retsat	T	C	6: 72,580,634 (GRCm39)		probably benign	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Sfswap	G	A	5: 129,584,207 (GRCm39)		probably null	Het
Slc16a7	A	T	10: 125,067,241 (GRCm39)	L133I	possibly damaging	Het
Slc30a3	A	T	5: 31,244,154 (GRCm39)	M376K	probably damaging	Het
Spmip4	T	A	6: 50,566,121 (GRCm39)	K118M	probably damaging	Het
Srbd1	C	T	17: 86,405,940 (GRCm39)	C620Y	probably null	Het
Trip10	T	A	17: 57,560,363 (GRCm39)	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,763,105 (GRCm39)	Q331*	probably null	Het
Vangl2	G	T	1: 171,832,353 (GRCm39)	T501N	probably damaging	Het
Vdr	A	T	15: 97,767,214 (GRCm39)	Y185N	probably benign	Het
Vmn1r123	C	T	7: 20,896,257 (GRCm39)	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,489,870 (GRCm39)	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,240,720 (GRCm39)	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,401,152 (GRCm39)	E89V	probably damaging	Het
Xrcc6	A	G	15: 81,915,364 (GRCm39)	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,290,692 (GRCm39)	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,042,929 (GRCm39)	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,739,585 (GRCm39)	H437L	probably damaging	Het

Other mutations in Cd151

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01654:Cd151	APN	7	141,050,275 (GRCm39)	missense	probably benign	0.43
IGL02023:Cd151	APN	7	141,050,370 (GRCm39)	missense	probably damaging	1.00
R0395:Cd151	UTSW	7	141,050,304 (GRCm39)	missense	probably damaging	1.00
R0526:Cd151	UTSW	7	141,050,504 (GRCm39)	missense	probably damaging	0.99
R1436:Cd151	UTSW	7	141,049,197 (GRCm39)	missense	probably damaging	0.96
R1510:Cd151	UTSW	7	141,050,280 (GRCm39)	missense	probably benign	0.01
R2847:Cd151	UTSW	7	141,049,463 (GRCm39)	missense	probably damaging	1.00
R5193:Cd151	UTSW	7	141,050,606 (GRCm39)	missense	probably damaging	1.00
R7362:Cd151	UTSW	7	141,049,502 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2014-01-15