Mutagenetix > Incidental Mutation

Incidental Mutation 'R6243:Gp1ba'

505398

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

044365-MU

Accession Numbers

Essential gene?

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

Stock #

R6243 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70529948-70532862 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 70530963 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: V243A

SMART Domains

Protein: ENSMUSP00000057563
Gene: ENSMUSG00000050675
AA Change: V243A

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: V243A

SMART Domains

Protein: ENSMUSP00000104191
Gene: ENSMUSG00000050675
AA Change: V243A

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

noncoding transcript
Transcript: ENSMUST00000134804

Meta Mutation Damage Score

0.1370

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (73/74)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	T	C	13: 104,450,809 (GRCm39)	S331P	probably damaging	Het
Akap9	T	G	5: 4,115,000 (GRCm39)		probably null	Het
Ankef1	A	G	2: 136,379,077 (GRCm39)	E9G	probably damaging	Het
Ap1g2	T	C	14: 55,336,530 (GRCm39)	E788G	probably benign	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Asrgl1	A	T	19: 9,093,868 (GRCm39)	I220K	probably damaging	Het
Atg16l2	A	C	7: 100,941,536 (GRCm39)	*404E	probably null	Het
Atp4a	T	C	7: 30,415,382 (GRCm39)	F334S	possibly damaging	Het
Atp6v0d1	T	C	8: 106,292,495 (GRCm39)	E17G	probably benign	Het
Bcat2	T	C	7: 45,237,691 (GRCm39)	V279A	probably benign	Het
Birc6	T	G	17: 74,916,382 (GRCm39)	M459R	probably damaging	Het
Bsn	T	C	9: 107,984,760 (GRCm39)	Y3098C	unknown	Het
Btaf1	T	A	19: 36,958,520 (GRCm39)	M679K	probably benign	Het
Cirop	T	A	14: 54,933,216 (GRCm39)	R322S	probably damaging	Het
Col6a4	T	C	9: 105,890,589 (GRCm39)	T1902A	possibly damaging	Het
Crhr1	G	A	11: 104,064,740 (GRCm39)	C364Y	probably damaging	Het
Crmp1	T	C	5: 37,446,288 (GRCm39)	L648P	probably damaging	Het
Cyfip1	T	C	7: 55,550,277 (GRCm39)	Y671H	probably damaging	Het
Cyp2b13	C	T	7: 25,761,044 (GRCm39)	P34S	probably damaging	Het
Dnajb6	T	A	5: 29,986,131 (GRCm39)	V233E	probably benign	Het
Dnhd1	A	T	7: 105,301,216 (GRCm39)	H191L	probably damaging	Het
Dsg3	T	A	18: 20,672,781 (GRCm39)	D817E	probably damaging	Het
Dytn	T	C	1: 63,686,680 (GRCm39)	Q330R	possibly damaging	Het
Fads1	G	T	19: 10,163,091 (GRCm39)	E123*	probably null	Het
Fchsd2	T	C	7: 100,921,016 (GRCm39)		probably benign	Het
Fmo9	T	C	1: 166,494,938 (GRCm39)	E270G	probably benign	Het
Folr1	T	A	7: 101,513,172 (GRCm39)	H41L	probably damaging	Het
Gm7298	A	G	6: 121,756,096 (GRCm39)	N985S	possibly damaging	Het
Hspa4	C	T	11: 53,153,766 (GRCm39)	E702K	probably benign	Het
Igf2bp3	A	T	6: 49,084,362 (GRCm39)	N285K	possibly damaging	Het
Lca5l	G	A	16: 95,980,112 (GRCm39)	T6I	possibly damaging	Het
Mapk8ip1	C	A	2: 92,219,589 (GRCm39)	G81C	probably damaging	Het
Mpeg1	A	G	19: 12,439,604 (GRCm39)	H354R	probably benign	Het
Msh6	T	A	17: 88,290,999 (GRCm39)	V195E	possibly damaging	Het
Mtfmt	C	T	9: 65,351,182 (GRCm39)	T243I	probably benign	Het
Myo1h	T	A	5: 114,500,208 (GRCm39)	I195K	probably damaging	Het
Nr1h5	T	C	3: 102,856,380 (GRCm39)	K300E	probably benign	Het
Nuak2	T	C	1: 132,260,105 (GRCm39)	S628P	probably benign	Het
Nup214	G	T	2: 31,892,944 (GRCm39)	A721S	possibly damaging	Het
Or12e13	A	G	2: 87,663,385 (GRCm39)	M1V	probably null	Het
Or5d47	A	G	2: 87,804,931 (GRCm39)	V26A	probably benign	Het
Pclo	T	C	5: 14,726,457 (GRCm39)		probably benign	Het
Phf20	A	G	2: 156,065,320 (GRCm39)	S12G	probably benign	Het
Pik3r5	T	C	11: 68,382,826 (GRCm39)	Y289H	probably damaging	Het
Pld1	T	C	3: 28,149,954 (GRCm39)	I717T	probably damaging	Het
Plxdc1	A	G	11: 97,846,299 (GRCm39)	Y182H	probably damaging	Het
Ppid	A	G	3: 79,510,373 (GRCm39)	I354V	probably benign	Het
Prss2	T	C	6: 41,501,387 (GRCm39)	V152A	probably benign	Het
Rab28	C	T	5: 41,793,223 (GRCm39)	A141T	probably benign	Het
Rabgap1l	C	T	1: 160,472,877 (GRCm39)		probably null	Het
Rabl6	T	G	2: 25,475,415 (GRCm39)	S553R	probably damaging	Het
Rars1	A	G	11: 35,717,374 (GRCm39)	F170S	possibly damaging	Het
Ror2	T	A	13: 53,267,116 (GRCm39)	M440L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Rsph4a	A	T	10: 33,785,139 (GRCm39)	Q350L	probably damaging	Het
Serpinb2	T	C	1: 107,450,869 (GRCm39)	F204L	probably damaging	Het
Sertad4	T	C	1: 192,533,257 (GRCm39)		probably null	Het
Shisa3	C	T	5: 67,768,486 (GRCm39)	P129S	probably benign	Het
Slc13a2	G	A	11: 78,295,534 (GRCm39)	L111F	probably damaging	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Stab2	T	A	10: 86,743,025 (GRCm39)	R1195W	probably damaging	Het
Syna	C	A	5: 134,588,968 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,030 (GRCm39)	D759E	probably benign	Het
Thoc5	A	G	11: 4,869,753 (GRCm39)	Y385C	possibly damaging	Het
Thsd7a	C	T	6: 12,327,601 (GRCm39)	D1424N	probably damaging	Het
Thsd7b	A	T	1: 130,090,599 (GRCm39)	Q1204L	probably benign	Het
Tnfrsf8	T	C	4: 145,029,671 (GRCm39)	N43S	possibly damaging	Het
Trim66	T	C	7: 109,059,481 (GRCm39)	K921R	probably benign	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Ugt2a2	T	G	5: 87,610,818 (GRCm39)	K339N	probably benign	Het
Vmn2r8	T	C	5: 108,947,211 (GRCm39)	T514A	probably benign	Het
Wrn	A	T	8: 33,774,682 (GRCm39)	M652K	possibly damaging	Het
Yme1l1	A	T	2: 23,083,184 (GRCm39)	Y550F	probably benign	Het
Zfp995	G	A	17: 22,099,269 (GRCm39)	P322S	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
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
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'- TCTGGCCAACAACAAATTGCG -3'
(R):5'- TCAGTTCTTGTGGCAGGGAC -3'

Sequencing Primer
(F):5'- CTCCTAGATGGGCTGGAGGATC -3'
(R):5'- GACGTCAGGGATATCATCATAGTC -3'

Posted On

2018-02-28