Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02358:Gp6'

290365

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gp6

Ensembl Gene

ENSMUSG00000078810

Gene Name

glycoprotein 6 platelet

Synonyms

Gpvi, 9830166G18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02358

Quality Score

Status

Chromosome

Chromosomal Location

4366964-4400743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4397507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 19 (I19L)

Ref Sequence

ENSEMBL: ENSMUSP00000145740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108590] [ENSMUST00000206928]

AlphaFold

P0C191

Predicted Effect

probably benign
Transcript: ENSMUST00000108590
AA Change: I19L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810
AA Change: I19L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	34	109	7.47e-3	SMART
IG	120	204	9.86e-3	SMART
transmembrane domain	266	285	N/A	INTRINSIC
low complexity region	306	312	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178240

Predicted Effect

probably benign
Transcript: ENSMUST00000206928
AA Change: I19L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous with disruptions in this gene display functional abnormalities in their platelets including failure of the platelets to aggregate and to become activated. The effects on blood clotting are minor however. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,474,418 (GRCm39)	T448A	possibly damaging	Het
Adamtsl1	T	A	4: 86,075,110 (GRCm39)		probably null	Het
Adgra3	A	G	5: 50,215,900 (GRCm39)	V73A	probably benign	Het
Adgre4	G	A	17: 56,150,209 (GRCm39)	R600Q	probably benign	Het
Aggf1	T	C	13: 95,489,358 (GRCm39)		probably benign	Het
Aktip	C	T	8: 91,853,520 (GRCm39)	V96I	possibly damaging	Het
Atm	A	G	9: 53,433,476 (GRCm39)	I258T	probably benign	Het
Baz1b	C	T	5: 135,273,160 (GRCm39)	T1428I	probably damaging	Het
C3ar1	A	T	6: 122,826,934 (GRCm39)	Y428N	probably damaging	Het
Cadps	A	G	14: 12,597,380 (GRCm38)	S437P	probably damaging	Het
Car4	C	T	11: 84,856,593 (GRCm39)	P294S	probably damaging	Het
Cenpq	A	G	17: 41,235,223 (GRCm39)	L213P	probably damaging	Het
Cept1	A	G	3: 106,446,504 (GRCm39)		probably null	Het
Cln6	A	G	9: 62,754,407 (GRCm39)	I150V	probably benign	Het
Cyb5r3	T	C	15: 83,045,136 (GRCm39)	T94A	probably benign	Het
Cyp2c67	A	G	19: 39,605,861 (GRCm39)	M345T	probably damaging	Het
Dapk2	T	A	9: 66,153,805 (GRCm39)	I187N	probably damaging	Het
Dkk2	A	G	3: 131,883,673 (GRCm39)	D191G	probably benign	Het
Dnah8	T	A	17: 30,986,785 (GRCm39)	F3145I	probably damaging	Het
Dock1	A	C	7: 134,710,548 (GRCm39)	D1190A	possibly damaging	Het
Ehhadh	T	A	16: 21,581,620 (GRCm39)	L457F	probably damaging	Het
Ercc6l2	T	C	13: 64,001,497 (GRCm39)	L552P	probably damaging	Het
Ghrhr	T	G	6: 55,361,138 (GRCm39)	I284S	probably damaging	Het
Gm10288	A	T	3: 146,544,954 (GRCm39)		noncoding transcript	Het
Gria4	G	A	9: 4,456,206 (GRCm39)	S698L	possibly damaging	Het
Ifng	A	T	10: 118,278,410 (GRCm39)	I53F	possibly damaging	Het
Kazn	A	C	4: 141,874,327 (GRCm39)		probably null	Het
Khk	A	T	5: 31,085,848 (GRCm39)	I136F	probably damaging	Het
Krtap9-3	T	A	11: 99,488,885 (GRCm39)		probably benign	Het
Lnx1	T	A	5: 74,788,027 (GRCm39)	N98Y	probably damaging	Het
Lsp1	T	C	7: 142,042,679 (GRCm39)		probably null	Het
Lta4h	A	T	10: 93,314,329 (GRCm39)	N467I	probably benign	Het
Mcmbp	C	A	7: 128,311,505 (GRCm39)		probably null	Het
Me2	A	T	18: 73,931,038 (GRCm39)	I85K	probably benign	Het
Muc4	C	T	16: 32,569,804 (GRCm39)	T288I	possibly damaging	Het
Nadsyn1	A	T	7: 143,353,649 (GRCm39)	Y525N	probably damaging	Het
Nt5e	G	A	9: 88,209,946 (GRCm39)	V70M	probably damaging	Het
Or52e4	G	A	7: 104,706,182 (GRCm39)	G243D	probably damaging	Het
Or8b36	A	T	9: 37,937,332 (GRCm39)	I77L	possibly damaging	Het
Or9k7	T	G	10: 130,046,603 (GRCm39)	Y132S	probably damaging	Het
Pkd1l3	A	G	8: 110,373,129 (GRCm39)		probably benign	Het
Ppm1d	A	T	11: 85,236,541 (GRCm39)	E440V	probably damaging	Het
Pramel32	A	T	4: 88,546,127 (GRCm39)	I405N	probably damaging	Het
Ripor2	A	T	13: 24,915,572 (GRCm39)	E1047D	probably damaging	Het
Rwdd2b	G	A	16: 87,234,336 (GRCm39)	A18V	probably benign	Het
Serpina5	G	T	12: 104,068,384 (GRCm39)	K148N	probably damaging	Het
Setx	A	G	2: 29,036,976 (GRCm39)	K1154E	probably benign	Het
Spata31	T	A	13: 65,069,032 (GRCm39)	N393K	probably benign	Het
Spcs2	T	C	7: 99,498,241 (GRCm39)	K81R	probably damaging	Het
Stt3b	T	A	9: 115,079,975 (GRCm39)	M646L	possibly damaging	Het
Suco	T	C	1: 161,646,195 (GRCm39)	T1169A	probably benign	Het
Susd1	A	T	4: 59,427,985 (GRCm39)	Y66*	probably null	Het
Trim34a	T	A	7: 103,910,441 (GRCm39)	C414*	probably null	Het
Trim58	G	A	11: 58,542,176 (GRCm39)	G379S	probably damaging	Het
Vmn2r50	T	A	7: 9,787,002 (GRCm39)	Q35L	probably benign	Het
Zc3hc1	C	A	6: 30,376,057 (GRCm39)	G168W	probably benign	Het
Zfp418	T	C	7: 7,177,690 (GRCm39)		probably benign	Het
Zfp57	G	A	17: 37,320,919 (GRCm39)	V258I	probably benign	Het
Zng1	A	T	19: 24,909,026 (GRCm39)		probably null	Het

Other mutations in Gp6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02141:Gp6	APN	7	4,397,103 (GRCm39)	splice site	probably benign
IGL02351:Gp6	APN	7	4,397,507 (GRCm39)	missense	probably benign	0.03
IGL02660:Gp6	APN	7	4,387,997 (GRCm39)	missense	probably benign	0.01
IGL03081:Gp6	APN	7	4,374,647 (GRCm39)	missense	probably benign	0.01
R0112:Gp6	UTSW	7	4,374,626 (GRCm39)	missense	probably benign	0.12
R0112:Gp6	UTSW	7	4,373,183 (GRCm39)	missense	probably benign	0.08
R0211:Gp6	UTSW	7	4,376,208 (GRCm39)	critical splice donor site	probably null
R0356:Gp6	UTSW	7	4,373,141 (GRCm39)	splice site	probably benign
R2006:Gp6	UTSW	7	4,387,988 (GRCm39)	missense	probably benign	0.33
R2047:Gp6	UTSW	7	4,376,270 (GRCm39)	splice site	probably benign
R5219:Gp6	UTSW	7	4,371,998 (GRCm39)	missense	possibly damaging	0.70
R5571:Gp6	UTSW	7	4,371,899 (GRCm39)	missense	probably damaging	1.00
R5639:Gp6	UTSW	7	4,397,130 (GRCm39)	missense	probably damaging	1.00
R6224:Gp6	UTSW	7	4,397,211 (GRCm39)	missense	probably benign	0.03
R6555:Gp6	UTSW	7	4,387,929 (GRCm39)	missense	probably damaging	0.99
R7625:Gp6	UTSW	7	4,373,173 (GRCm39)	missense	probably benign	0.37
R8113:Gp6	UTSW	7	4,397,114 (GRCm39)	missense	probably benign	0.13

Posted On

2015-04-16