Mutagenetix > Incidental Mutation

Incidental Mutation 'R8958:Gp1ba'

682179

Institutional Source

Beutler Lab

Gene Symbol

Gp1ba

Ensembl Gene

ENSMUSG00000050675

Gene Name

glycoprotein 1b, alpha polypeptide

Synonyms

GPIba, GP Ib-alpha, GPIb-alpha

MMRRC Submission

068794-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R8958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70529948-70532862 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to G at 70531730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114685 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014750] [ENSMUST00000055184] [ENSMUST00000108551] [ENSMUST00000139638]

AlphaFold

O35930

Predicted Effect

probably benign
Transcript: ENSMUST00000014750

SMART Domains

Protein: ENSMUSP00000014750
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	18	112	1.3e-22	PFAM
Pfam:Mito_carr	115	213	2.6e-19	PFAM
Pfam:Mito_carr	216	311	5.2e-21	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000055184
AA Change: P499A

SMART Domains

Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
AA Change: P499A

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LRRNT	19	51	1.66e-1	SMART
LRR	70	91	2.54e2	SMART
LRR	92	114	9.96e-1	SMART
LRR_TYP	115	138	1.56e-2	SMART
LRR_TYP	139	162	1.47e-3	SMART
LRR	163	186	1.89e-1	SMART
LRR	187	210	8.09e-1	SMART
LRRCT	221	281	2.53e-12	SMART
low complexity region	403	432	N/A	INTRINSIC
low complexity region	446	530	N/A	INTRINSIC
low complexity region	533	579	N/A	INTRINSIC
transmembrane domain	612	634	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
PDB:2BP3\|T	680	701	2e-6	PDB

Predicted Effect

unknown
Transcript: ENSMUST00000108551
AA Change: P499A

SMART Domains

Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675
AA Change: P499A

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LRRNT	19	51	1.66e-1	SMART
LRR	70	91	2.54e2	SMART
LRR	92	114	9.96e-1	SMART
LRR_TYP	115	138	1.56e-2	SMART
LRR_TYP	139	162	1.47e-3	SMART
LRR	163	186	1.89e-1	SMART
LRR	187	210	8.09e-1	SMART
LRRCT	221	281	2.53e-12	SMART
low complexity region	403	432	N/A	INTRINSIC
low complexity region	446	530	N/A	INTRINSIC
low complexity region	533	579	N/A	INTRINSIC
transmembrane domain	612	634	N/A	INTRINSIC
low complexity region	650	662	N/A	INTRINSIC
PDB:2BP3\|T	680	701	2e-6	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000139638

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	80	7.4e-17	PFAM
Pfam:Mito_carr	83	181	1.1e-21	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit prolonged bleeding times and reduced numbers of enlarged platelets. Heterozygotes have intermediate numbers of platelets. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	A	T	12: 21,399,934 (GRCm39)	N157K	possibly damaging	Het
Adck2	T	C	6: 39,560,848 (GRCm39)	V412A	probably benign	Het
Adgrb3	C	T	1: 25,865,190 (GRCm39)	V11I	possibly damaging	Het
Arhgef17	T	C	7: 100,579,019 (GRCm39)	D643G	probably damaging	Het
Arvcf	A	G	16: 18,221,376 (GRCm39)	Q597R	probably damaging	Het
Brdt	T	C	5: 107,525,877 (GRCm39)	V910A	probably benign	Het
Cachd1	A	G	4: 100,851,283 (GRCm39)	D1167G	probably benign	Het
Ccdc187	A	C	2: 26,165,577 (GRCm39)	S860A	probably benign	Het
Ccdc28a	T	C	10: 18,089,926 (GRCm39)	I113M	probably benign	Het
Cdc5l	T	C	17: 45,704,127 (GRCm39)	N699S	probably benign	Het
Cenpf	A	T	1: 189,385,350 (GRCm39)	I2310K	possibly damaging	Het
Ch25h	A	T	19: 34,452,414 (GRCm39)	I38N	probably benign	Het
Chrdl2	C	A	7: 99,670,129 (GRCm39)	P84Q	probably damaging	Het
Cltc	A	T	11: 86,586,403 (GRCm39)	Y1673N	possibly damaging	Het
Cr1l	C	G	1: 194,812,243 (GRCm39)	G27R	probably damaging	Het
Crebbp	G	A	16: 4,031,172 (GRCm39)		probably benign	Het
Dync1h1	G	A	12: 110,586,805 (GRCm39)	E929K	probably benign	Het
E2f7	C	A	10: 110,601,615 (GRCm39)	P324Q	probably damaging	Het
Eif3b	A	G	5: 140,411,194 (GRCm39)	D215G	probably benign	Het
Ephb1	A	G	9: 102,072,614 (GRCm39)	I55T	probably damaging	Het
Fbxw14	A	T	9: 109,107,810 (GRCm39)	L188Q	probably damaging	Het
Foxg1	T	C	12: 49,431,944 (GRCm39)	S226P	probably damaging	Het
Gbe1	T	C	16: 70,275,210 (GRCm39)	F337L	probably damaging	Het
Glg1	A	T	8: 111,899,116 (GRCm39)	C716*	probably null	Het
Grm7	C	T	6: 111,472,783 (GRCm39)	S36L	probably damaging	Het
H2-M5	T	A	17: 37,299,520 (GRCm39)	I167F	probably damaging	Het
H3c6	T	C	13: 23,746,421 (GRCm39)	H40R	possibly damaging	Het
Hycc1	A	G	5: 24,169,934 (GRCm39)	C472R	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Ino80	C	T	2: 119,213,862 (GRCm39)	R1236H	probably damaging	Het
Ism1	T	A	2: 139,573,995 (GRCm39)	I115N	possibly damaging	Het
Kdm4a	A	G	4: 117,999,573 (GRCm39)	S950P	probably benign	Het
Lama5	T	C	2: 179,835,592 (GRCm39)	T1254A	probably benign	Het
Lipo2	T	A	19: 33,698,361 (GRCm39)	K339*	probably null	Het
Lrrc7	T	C	3: 157,946,138 (GRCm39)	K187R	probably benign	Het
Mkrn2os	G	C	6: 115,562,317 (GRCm39)	S215R	probably benign	Het
Myzap	G	T	9: 71,457,485 (GRCm39)	D303E	possibly damaging	Het
Naa11	T	C	5: 97,540,084 (GRCm39)	N25D	probably damaging	Het
Naip5	T	A	13: 100,354,117 (GRCm39)	K1149*	probably null	Het
Obscn	C	T	11: 58,964,158 (GRCm39)	V3083M	probably damaging	Het
Or10d1	T	C	9: 39,484,091 (GRCm39)	T155A	probably benign	Het
Or4k48	T	C	2: 111,476,070 (GRCm39)	T91A	possibly damaging	Het
Parn	T	A	16: 13,466,322 (GRCm39)	E241D	possibly damaging	Het
Pax1	T	A	2: 147,210,517 (GRCm39)		probably null	Het
Pclo	A	T	5: 14,725,369 (GRCm39)	E1409V	unknown	Het
Pclo	A	G	5: 14,763,056 (GRCm39)	Y3843C	unknown	Het
Ppp2r3d	A	T	9: 101,088,634 (GRCm39)	M563K	probably benign	Het
Prdm1	T	G	10: 44,316,729 (GRCm39)	K623Q	probably damaging	Het
Ptpn13	T	C	5: 103,698,973 (GRCm39)	V1152A	probably benign	Het
Ptx3	G	A	3: 66,128,391 (GRCm39)	A151T	probably benign	Het
Rab11fip1	T	C	8: 27,644,940 (GRCm39)	S282G	possibly damaging	Het
Ros1	G	T	10: 51,972,190 (GRCm39)	N1641K	probably damaging	Het
Syne1	T	C	10: 5,181,768 (GRCm39)	K4189R	probably benign	Het
Tcf3	T	C	10: 80,246,091 (GRCm39)	K611E	probably damaging	Het
Tmem215	A	G	4: 40,474,376 (GRCm39)	Q151R	probably benign	Het
Trappc8	T	C	18: 21,003,667 (GRCm39)	I254V	probably benign	Het
Trim46	T	C	3: 89,143,760 (GRCm39)	D556G	probably damaging	Het
Wdr97	A	T	15: 76,245,694 (GRCm39)	E1310D		Het
Zfp513	C	A	5: 31,356,825 (GRCm39)	R487L	probably damaging	Het
Zmpste24	C	A	4: 120,944,508 (GRCm39)	E97*	probably null	Het

Other mutations in Gp1ba

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00428:Gp1ba	APN	11	70,531,478 (GRCm39)	unclassified	probably benign
IGL00715:Gp1ba	APN	11	70,530,744 (GRCm39)	unclassified	probably benign
R0126:Gp1ba	UTSW	11	70,531,859 (GRCm39)	unclassified	probably benign
R0329:Gp1ba	UTSW	11	70,531,235 (GRCm39)	unclassified	probably benign
R0360:Gp1ba	UTSW	11	70,531,284 (GRCm39)	unclassified	probably benign
R0364:Gp1ba	UTSW	11	70,531,284 (GRCm39)	unclassified	probably benign
R0561:Gp1ba	UTSW	11	70,530,416 (GRCm39)	unclassified	probably benign
R0693:Gp1ba	UTSW	11	70,531,284 (GRCm39)	unclassified	probably benign
R0715:Gp1ba	UTSW	11	70,531,614 (GRCm39)	unclassified	probably benign
R0762:Gp1ba	UTSW	11	70,532,253 (GRCm39)	missense	probably damaging	1.00
R0766:Gp1ba	UTSW	11	70,532,253 (GRCm39)	missense	probably damaging	1.00
R1178:Gp1ba	UTSW	11	70,532,253 (GRCm39)	missense	probably damaging	1.00
R1181:Gp1ba	UTSW	11	70,532,253 (GRCm39)	missense	probably damaging	1.00
R1448:Gp1ba	UTSW	11	70,532,253 (GRCm39)	missense	probably damaging	1.00
R1926:Gp1ba	UTSW	11	70,531,715 (GRCm39)	unclassified	probably benign
R2317:Gp1ba	UTSW	11	70,531,473 (GRCm39)	unclassified	probably benign
R5101:Gp1ba	UTSW	11	70,532,225 (GRCm39)	missense	probably benign	0.13
R6243:Gp1ba	UTSW	11	70,530,963 (GRCm39)	unclassified	probably benign
R7020:Gp1ba	UTSW	11	70,531,139 (GRCm39)	unclassified	probably benign
R7340:Gp1ba	UTSW	11	70,531,119 (GRCm39)	missense	unknown
R7571:Gp1ba	UTSW	11	70,530,920 (GRCm39)	missense	unknown
R8224:Gp1ba	UTSW	11	70,530,683 (GRCm39)	missense	unknown
R9164:Gp1ba	UTSW	11	70,531,283 (GRCm39)	missense	unknown
R9393:Gp1ba	UTSW	11	70,531,293 (GRCm39)	missense	unknown
X0025:Gp1ba	UTSW	11	70,531,728 (GRCm39)	unclassified	probably benign
Z1177:Gp1ba	UTSW	11	70,530,233 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGCCCACTACTACCATCCTG -3'
(R):5'- ATTGTCTCAATTGGGGTAGACTC -3'

Sequencing Primer
(F):5'- AGTGCCCACTACTGCCATC -3'
(R):5'- CTCAATTGGGGTAGACTCTGGAG -3'

Posted On

2021-08-31