Mutagenetix > Incidental Mutation

Incidental Mutation 'R0112:Gp6'

20506

Institutional Source

Beutler Lab

Gene Symbol

Gp6

Ensembl Gene

ENSMUSG00000078810

Gene Name

glycoprotein 6 platelet

Synonyms

Gpvi, 9830166G18Rik

MMRRC Submission

038398-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4366964-4400743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 4374626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 232 (P232A)

Ref Sequence

ENSEMBL: ENSMUSP00000145740 (fasta)

Gene Model

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

AlphaFold

P0C191

Predicted Effect

probably benign
Transcript: ENSMUST00000108590

SMART Domains

Protein: ENSMUSP00000104231
Gene: ENSMUSG00000078810

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

probably benign
Transcript: ENSMUST00000206928
AA Change: P232A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trf	A	G	9: 103,104,155 (GRCm39)		probably benign	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		probably benign	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
IGL02358: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	4,373,183 (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

Predicted Primers

PCR Primer
(F):5'- GCACTAACAGAATGCTGCAACTGAAAA -3'
(R):5'- CCACAGTAGTTGGACACTATGTGACAGA -3'

Sequencing Primer
(F):5'- acacaagaggagcaaacagag -3'
(R):5'- TTGGACACTATGTGACAGATGAAG -3'

Posted On

2013-04-11