Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Cd151'

48926

Institutional Source

Beutler Lab

Gene Symbol

Cd151

Ensembl Gene

ENSMUSG00000025510

Gene Name

CD151 antigen

Synonyms

SFA-1, Tspan24, PETA-3

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

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

Stock #

R0526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141047305-141051386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141050504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 219 (H219L)

Ref Sequence

ENSEMBL: ENSMUSP00000136331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026585] [ENSMUST00000043870] [ENSMUST00000053670] [ENSMUST00000058746] [ENSMUST00000106000] [ENSMUST00000177840] [ENSMUST00000209892] [ENSMUST00000211071] [ENSMUST00000209988] [ENSMUST00000146305] [ENSMUST00000170879] [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: H219L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061636
Gene: ENSMUSG00000025510
AA Change: H219L

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: H219L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101622
Gene: ENSMUSG00000025510
AA Change: H219L

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: H219L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136331
Gene: ENSMUSG00000025510
AA Change: H219L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211522

Predicted Effect

probably benign
Transcript: ENSMUST00000209892

Predicted Effect

probably benign
Transcript: ENSMUST00000211071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210058

Predicted Effect

probably benign
Transcript: ENSMUST00000209988

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171994

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167572

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210308

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: 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: ENSMUST00000138092

SMART Domains

Protein: ENSMUSP00000115421
Gene: ENSMUSG00000025511

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Akap8	G	A	17: 32,536,266 (GRCm39)	T49I	probably benign	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Ccnt2	T	G	1: 127,727,182 (GRCm39)	C199G	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Prf1	G	A	10: 61,136,033 (GRCm39)	R103H	probably benign	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Yes1	T	A	5: 32,812,584 (GRCm39)	C285S	probably benign	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	probably benign	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
R1173:Cd151	UTSW	7	141,050,569 (GRCm39)	missense	probably damaging	1.00
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

PCR Primer
(F):5'- TGTGGCAGCAACAACTCTCAAGAC -3'
(R):5'- GCATCATCGTGGTCAGTAGTGCAAG -3'

Sequencing Primer
(F):5'- TCTCAAGACTGGCAAGACAG -3'
(R):5'- GTGAAGATCATGCCGAAGAC -3'

Posted On

2013-06-12