Mutagenetix > Incidental Mutation

Incidental Mutation 'R0561:Gp1ba'

45888

Institutional Source

Beutler Lab

Gene Symbol

Gp1ba

Ensembl Gene

ENSMUSG00000050675

Gene Name

glycoprotein 1b, alpha polypeptide

Synonyms

GPIba, GP Ib-alpha, GPIb-alpha

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.282) question?

Stock #

R0561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70529948-70532862 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 70530416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000014750 (fasta)

Gene Model

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

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: T61S

SMART Domains

Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
AA Change: T61S

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: T61S

SMART Domains

Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675
AA Change: T61S

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	G	12: 88,335,204 (GRCm39)	D30G	possibly damaging	Het
Apc	A	T	18: 34,446,356 (GRCm39)	H1050L	possibly damaging	Het
Armc2	A	G	10: 41,869,188 (GRCm39)	V166A	probably benign	Het
Atp6v1b1	A	T	6: 83,730,793 (GRCm39)	I173F	probably damaging	Het
Bpifb4	A	G	2: 153,786,742 (GRCm39)	D298G	probably damaging	Het
C4b	T	A	17: 34,953,391 (GRCm39)	S1031C	probably damaging	Het
Calcr	A	G	6: 3,692,630 (GRCm39)	I408T	probably damaging	Het
Catsperg1	T	C	7: 28,881,737 (GRCm39)	N1009S	probably damaging	Het
Ces2a	T	C	8: 105,464,165 (GRCm39)	S266P	probably benign	Het
Chrna1	A	G	2: 73,396,596 (GRCm39)	V433A	possibly damaging	Het
Ctnnb1	G	A	9: 120,780,788 (GRCm39)	V291M	probably damaging	Het
Dcbld1	T	C	10: 52,138,032 (GRCm39)	Y99H	probably benign	Het
Ddx60	A	T	8: 62,470,828 (GRCm39)	H1440L	possibly damaging	Het
Dsg1c	A	T	18: 20,407,832 (GRCm39)	I393L	probably benign	Het
Eif5	G	T	12: 111,506,950 (GRCm39)	R128L	probably benign	Het
Ercc3	A	G	18: 32,378,592 (GRCm39)	D191G	possibly damaging	Het
Krt24	C	T	11: 99,175,439 (GRCm39)	E199K	probably damaging	Het
Lrif1	G	T	3: 106,639,481 (GRCm39)	A164S	probably damaging	Het
Map2	A	G	1: 66,464,656 (GRCm39)	D1682G	probably damaging	Het
Megf8	C	T	7: 25,028,257 (GRCm39)	P274S	probably benign	Het
Mslnl	C	T	17: 25,962,177 (GRCm39)	Q192*	probably null	Het
Nfkb2	T	C	19: 46,298,301 (GRCm39)	V535A	possibly damaging	Het
Or10q1	A	T	19: 13,726,662 (GRCm39)	Y64F	probably damaging	Het
Or4a66	A	G	2: 88,530,914 (GRCm39)	I253T	possibly damaging	Het
Or4c11	T	A	2: 88,695,024 (GRCm39)	V25E	possibly damaging	Het
Or7a37	T	A	10: 78,805,729 (GRCm39)	L82*	probably null	Het
Or8b37	G	T	9: 37,959,123 (GRCm39)	V202L	probably benign	Het
Or8g22	C	T	9: 38,958,669 (GRCm39)	M15I	probably damaging	Het
Pag1	T	A	3: 9,764,481 (GRCm39)	Y224F	probably damaging	Het
Pbrm1	A	C	14: 30,757,948 (GRCm39)	I193L	probably benign	Het
Phrf1	T	C	7: 140,834,876 (GRCm39)	V17A	probably benign	Het
Plekhg2	T	G	7: 28,069,908 (GRCm39)	T42P	probably benign	Het
Pmp22	T	A	11: 63,025,250 (GRCm39)	W28R	probably damaging	Het
Ppp1r13b	A	T	12: 111,832,880 (GRCm39)	H82Q	probably damaging	Het
Rgs8	T	C	1: 153,541,668 (GRCm39)		probably null	Het
Rtl1	A	G	12: 109,560,363 (GRCm39)	V492A	probably damaging	Het
Slc22a27	A	G	19: 7,857,527 (GRCm39)		probably null	Het
Slx4ip	A	G	2: 136,908,090 (GRCm39)	E79G	probably null	Het
Syde1	C	T	10: 78,425,210 (GRCm39)	R267H	probably damaging	Het
Tas2r114	A	G	6: 131,666,758 (GRCm39)	I90T	probably benign	Het
Tjp3	C	T	10: 81,109,674 (GRCm39)	G843D	probably benign	Het
Tln1	A	T	4: 43,550,304 (GRCm39)	M453K	possibly damaging	Het
Ttc39a	A	T	4: 109,297,799 (GRCm39)	Y408F	probably damaging	Het
Usp39	T	G	6: 72,313,368 (GRCm39)	Q274P	probably damaging	Het
Uvrag	C	T	7: 98,537,768 (GRCm39)	V476I	probably damaging	Het
Vcan	T	A	13: 89,860,372 (GRCm39)	T332S	probably damaging	Het
Vcan	T	A	13: 89,879,583 (GRCm39)	H22L	possibly damaging	Het
Wls	A	G	3: 159,578,705 (GRCm39)	D89G	probably benign	Het
Zfhx2	A	T	14: 55,303,346 (GRCm39)	V1546E	probably benign	Het
Zfp457	T	A	13: 67,442,134 (GRCm39)	H147L	probably damaging	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
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
R8958:Gp1ba	UTSW	11	70,531,730 (GRCm39)	unclassified	probably benign
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'- AAGTCCCTTGCATTCCCAGCAC -3'
(R):5'- AGCTTGGTCGTTGGCAACAAGAG -3'

Sequencing Primer
(F):5'- CACTTGTAGTATCTCCAAAGTGACC -3'
(R):5'- CAGTGAGCCCAACTTGTTGAAG -3'

Posted On

2013-06-11