Mutagenetix > Incidental Mutation

Incidental Mutation 'R4906:Itga2b'

378223

Institutional Source

Beutler Lab

Gene Symbol

Itga2b

Ensembl Gene

ENSMUSG00000034664

Gene Name

integrin alpha 2b

Synonyms

CD41, GpIIb, platelet glycoprotein IIb, alphaIIb, GP IIb

MMRRC Submission

042508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R4906 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102344123-102360709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102351985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 504 (V504A)

Ref Sequence

ENSEMBL: ENSMUSP00000099375 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103086]

AlphaFold

Q9QUM0

Predicted Effect

probably benign
Transcript: ENSMUST00000103086
AA Change: V504A

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: V504A

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Int_alpha	46	103	2.34e-10	SMART
Int_alpha	261	311	1.3e-3	SMART
Int_alpha	315	376	4.9e-13	SMART
Int_alpha	382	438	4.34e-14	SMART
Int_alpha	443	494	4.05e-5	SMART
low complexity region	552	567	N/A	INTRINSIC
SCOP:d1m1xa2	635	770	1e-48	SMART
SCOP:d1m1xa3	775	995	3e-66	SMART
Pfam:Integrin_alpha	1015	1029	5.7e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124767

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128752

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131247

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151625

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174900

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit a bleeding disorder, lack platelet binding to fibrinogen, absence of fibrinogen in platelet alpha granules, and increased numbers of hematopoietic progenitors in yolk sac, fetal liver, and bone marrow. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	C	7: 107,223,897 (GRCm39)		probably benign	Het
Ablim2	C	T	5: 35,959,766 (GRCm39)	R73C	possibly damaging	Het
Adgrf2	T	C	17: 43,022,084 (GRCm39)	I247V	probably benign	Het
Adgrv1	A	G	13: 81,418,857 (GRCm39)		probably null	Het
Ankrd22	T	A	19: 34,126,752 (GRCm39)	K26I	possibly damaging	Het
Arhgap32	T	A	9: 32,156,552 (GRCm39)		probably null	Het
Armc10	A	G	5: 21,866,522 (GRCm39)	Y262C	probably damaging	Het
Arrb2	A	G	11: 70,330,725 (GRCm39)	D374G	probably benign	Het
Ascc3	C	T	10: 50,625,227 (GRCm39)	R1675C	probably damaging	Het
Atg5	T	C	10: 44,239,046 (GRCm39)	*276R	probably null	Het
Bcl11b	G	A	12: 107,882,968 (GRCm39)	T377M	probably damaging	Het
C1s2	C	A	6: 124,612,073 (GRCm39)	E104*	probably null	Het
Carf	A	T	1: 60,180,526 (GRCm39)	H316L	probably damaging	Het
Ccdc77	A	T	6: 120,311,796 (GRCm39)	I234N	probably damaging	Het
Cd300c2	A	T	11: 114,887,826 (GRCm39)	V192E	possibly damaging	Het
Cep72	G	A	13: 74,207,584 (GRCm39)	R62C	probably damaging	Het
Clasp1	T	A	1: 118,436,640 (GRCm39)	L308*	probably null	Het
Clec2g	A	G	6: 128,956,411 (GRCm39)	S25G	probably benign	Het
Cngb1	T	C	8: 95,978,601 (GRCm39)	M1046V	probably damaging	Het
Cobll1	A	T	2: 64,928,037 (GRCm39)	D1095E	probably benign	Het
Cpeb2	A	G	5: 43,402,005 (GRCm39)	H662R	possibly damaging	Het
Cps1	A	T	1: 67,178,922 (GRCm39)	T45S	probably benign	Het
Cspp1	A	G	1: 10,152,553 (GRCm39)	Q368R	possibly damaging	Het
Dcaf6	C	A	1: 165,239,032 (GRCm39)		probably null	Het
Dcst1	T	C	3: 89,257,814 (GRCm39)	Y652C	possibly damaging	Het
Elf5	T	G	2: 103,279,918 (GRCm39)	Y225*	probably null	Het
Ermap	A	C	4: 119,046,015 (GRCm39)		probably benign	Het
Fam186b	A	T	15: 99,169,202 (GRCm39)	V915D	probably damaging	Het
Fbxo34	C	A	14: 47,766,911 (GRCm39)	N90K	probably benign	Het
Flnc	A	G	6: 29,447,524 (GRCm39)	E1109G	probably damaging	Het
Flt1	C	A	5: 147,620,749 (GRCm39)	A132S	probably benign	Het
Gabpb2	A	G	3: 95,097,947 (GRCm39)	V242A	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm21798	A	T	15: 64,689,732 (GRCm39)		probably benign	Het
Gpr179	A	T	11: 97,237,487 (GRCm39)	S345T	possibly damaging	Het
Gusb	A	T	5: 130,026,959 (GRCm39)	F377L	probably damaging	Het
Hnrnpu	T	C	1: 178,156,938 (GRCm39)		probably benign	Het
Htr3b	C	T	9: 48,848,348 (GRCm39)		probably null	Het
Iqub	A	T	6: 24,501,368 (GRCm39)	V194D	probably damaging	Het
Itga4	T	A	2: 79,118,592 (GRCm39)	F430L	probably damaging	Het
Jcad	C	A	18: 4,673,762 (GRCm39)	P508H	probably damaging	Het
Jph1	T	C	1: 17,161,835 (GRCm39)	T276A	probably damaging	Het
Kansl2	A	G	15: 98,429,771 (GRCm39)	F87S	possibly damaging	Het
Kdm1b	T	C	13: 47,216,620 (GRCm39)		probably null	Het
Kif5b	C	T	18: 6,220,930 (GRCm39)	D393N	probably benign	Het
Kmt2d	A	T	15: 98,747,420 (GRCm39)		probably benign	Het
Krt75	A	G	15: 101,478,674 (GRCm39)	I320T	probably damaging	Het
Lhfpl7	T	A	5: 113,386,036 (GRCm39)	M161K	probably benign	Het
Lipo5	T	C	19: 33,443,348 (GRCm39)	N156S	unknown	Het
Mblac2	A	C	13: 81,859,706 (GRCm39)	Q19P	probably null	Het
Mdfic2	A	T	6: 98,215,080 (GRCm39)	M181K	probably damaging	Het
Mfsd4b3-ps	T	C	10: 39,824,056 (GRCm39)	H68R	probably damaging	Het
Mzb1	A	T	18: 35,781,006 (GRCm39)		probably null	Het
Nup210l	T	A	3: 90,077,337 (GRCm39)	I891N	probably benign	Het
Nwd1	G	A	8: 73,398,841 (GRCm39)	R667Q	probably damaging	Het
Oas1h	C	T	5: 121,005,172 (GRCm39)	Q207*	probably null	Het
Or13c7d	A	T	4: 43,770,476 (GRCm39)	F178L	possibly damaging	Het
Pcdh15	C	T	10: 74,340,625 (GRCm39)	R1120*	probably null	Het
Pfkl	A	G	10: 77,824,144 (GRCm39)	L748P	probably damaging	Het
Phldb2	T	A	16: 45,571,758 (GRCm39)	K473N	probably damaging	Het
Rapgef6	G	A	11: 54,443,662 (GRCm39)	V82I	probably damaging	Het
Rfc3	A	T	5: 151,570,960 (GRCm39)	L112Q	probably damaging	Het
Rsph6a	T	A	7: 18,801,997 (GRCm39)	C349S	possibly damaging	Het
Sec16a	A	T	2: 26,331,979 (GRCm39)		probably benign	Het
Septin14	T	A	5: 129,770,030 (GRCm39)	Y222F	probably benign	Het
Skor2	T	C	18: 76,947,990 (GRCm39)	S571P	possibly damaging	Het
Slc13a5	T	A	11: 72,148,244 (GRCm39)	M264L	probably damaging	Het
Slc45a3	T	A	1: 131,909,315 (GRCm39)	V504E	probably damaging	Het
Smg1	C	T	7: 117,751,631 (GRCm39)		probably benign	Het
Smim20	A	G	5: 53,434,503 (GRCm39)	N45S	probably null	Het
Spp2	A	T	1: 88,339,991 (GRCm39)	S111C	probably damaging	Het
Sspo	A	G	6: 48,442,664 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,045,450 (GRCm39)		probably null	Het
Tas2r113	A	G	6: 132,870,521 (GRCm39)	N183S	possibly damaging	Het
Tcaf2	A	T	6: 42,606,679 (GRCm39)	M425K	probably benign	Het
Tdrp	A	G	8: 14,003,845 (GRCm39)	V164A	possibly damaging	Het
Tmbim1	A	G	1: 74,328,568 (GRCm39)	F298S	probably damaging	Het
Tmem89	A	G	9: 108,743,829 (GRCm39)		probably benign	Het
Trpm2	G	T	10: 77,768,023 (GRCm39)	C825*	probably null	Het
Tsc1	A	G	2: 28,565,201 (GRCm39)	E421G	possibly damaging	Het
Usp24	T	C	4: 106,245,834 (GRCm39)	I1364T	probably benign	Het
Vmn1r52	G	A	6: 90,155,930 (GRCm39)	G78E	possibly damaging	Het
Vmn2r73	T	G	7: 85,506,829 (GRCm39)	I828L	probably damaging	Het
Vwa5b1	A	T	4: 138,338,058 (GRCm39)	D87E	probably benign	Het
Zfp1010	T	C	2: 176,957,223 (GRCm39)	T92A	possibly damaging	Het
Zfp451	A	T	1: 33,844,465 (GRCm39)	D47E	probably damaging	Het
Zfp821	A	G	8: 110,450,841 (GRCm39)	E278G	probably damaging	Het
Zfp930	A	T	8: 69,681,597 (GRCm39)	T430S	probably benign	Het
Zfp994	G	T	17: 22,419,448 (GRCm39)	Y500*	probably null	Het
Zmat3	A	T	3: 32,397,836 (GRCm39)	I142N	probably damaging	Het
Zzef1	T	A	11: 72,792,214 (GRCm39)	I2266N	probably damaging	Het

Other mutations in Itga2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01637:Itga2b	APN	11	102,346,409 (GRCm39)	missense	probably damaging	1.00
IGL02197:Itga2b	APN	11	102,357,145 (GRCm39)	missense	probably benign	0.19
IGL02349:Itga2b	APN	11	102,352,189 (GRCm39)	missense	probably damaging	0.98
IGL02711:Itga2b	APN	11	102,356,551 (GRCm39)	missense	possibly damaging	0.53
R0282:Itga2b	UTSW	11	102,351,672 (GRCm39)	missense	probably damaging	0.99
R0349:Itga2b	UTSW	11	102,358,252 (GRCm39)	missense	probably damaging	0.98
R0384:Itga2b	UTSW	11	102,356,188 (GRCm39)	splice site	probably null
R0403:Itga2b	UTSW	11	102,358,152 (GRCm39)	critical splice donor site	probably null
R0452:Itga2b	UTSW	11	102,356,779 (GRCm39)	splice site	probably null
R0535:Itga2b	UTSW	11	102,348,359 (GRCm39)	missense	possibly damaging	0.65
R1412:Itga2b	UTSW	11	102,347,831 (GRCm39)	missense	probably benign	0.00
R1517:Itga2b	UTSW	11	102,357,151 (GRCm39)	nonsense	probably null
R1615:Itga2b	UTSW	11	102,350,963 (GRCm39)	critical splice donor site	probably null
R1716:Itga2b	UTSW	11	102,351,603 (GRCm39)	missense	probably benign	0.30
R1953:Itga2b	UTSW	11	102,349,009 (GRCm39)	missense	probably benign	0.18
R2001:Itga2b	UTSW	11	102,358,165 (GRCm39)	missense	probably benign
R2216:Itga2b	UTSW	11	102,358,692 (GRCm39)	missense	probably benign	0.35
R4193:Itga2b	UTSW	11	102,360,511 (GRCm39)	missense	probably benign	0.01
R4770:Itga2b	UTSW	11	102,351,582 (GRCm39)	missense	probably damaging	1.00
R4805:Itga2b	UTSW	11	102,358,692 (GRCm39)	missense	probably benign	0.00
R4880:Itga2b	UTSW	11	102,348,548 (GRCm39)	intron	probably benign
R5112:Itga2b	UTSW	11	102,349,017 (GRCm39)	missense	probably damaging	0.99
R5362:Itga2b	UTSW	11	102,351,961 (GRCm39)	missense	probably damaging	0.99
R5739:Itga2b	UTSW	11	102,356,735 (GRCm39)	missense	probably benign	0.14
R5761:Itga2b	UTSW	11	102,357,100 (GRCm39)	missense	probably benign	0.00
R5840:Itga2b	UTSW	11	102,352,157 (GRCm39)	missense	probably damaging	1.00
R5851:Itga2b	UTSW	11	102,348,427 (GRCm39)	intron	probably benign
R6239:Itga2b	UTSW	11	102,356,144 (GRCm39)	missense	possibly damaging	0.61
R6491:Itga2b	UTSW	11	102,350,695 (GRCm39)	splice site	probably null
R7426:Itga2b	UTSW	11	102,347,120 (GRCm39)	missense	probably benign	0.01
R7635:Itga2b	UTSW	11	102,352,582 (GRCm39)	missense	probably damaging	1.00
R7664:Itga2b	UTSW	11	102,351,666 (GRCm39)	missense	probably damaging	1.00
R7832:Itga2b	UTSW	11	102,348,108 (GRCm39)	missense	probably damaging	0.98
R8120:Itga2b	UTSW	11	102,360,368 (GRCm39)	missense	probably damaging	0.98
R8254:Itga2b	UTSW	11	102,358,212 (GRCm39)	missense	probably benign	0.16
R8296:Itga2b	UTSW	11	102,351,985 (GRCm39)	missense	possibly damaging	0.79
R8362:Itga2b	UTSW	11	102,352,189 (GRCm39)	missense	probably damaging	1.00
R8815:Itga2b	UTSW	11	102,351,687 (GRCm39)	missense	possibly damaging	0.91
R8901:Itga2b	UTSW	11	102,351,630 (GRCm39)	missense	probably damaging	0.99
R8985:Itga2b	UTSW	11	102,356,288 (GRCm39)	intron	probably benign
R9277:Itga2b	UTSW	11	102,351,982 (GRCm39)	missense	probably damaging	1.00
R9335:Itga2b	UTSW	11	102,346,478 (GRCm39)	missense	probably damaging	0.99
R9496:Itga2b	UTSW	11	102,358,629 (GRCm39)	missense	probably damaging	1.00
R9779:Itga2b	UTSW	11	102,348,147 (GRCm39)	missense	probably damaging	1.00
Z1177:Itga2b	UTSW	11	102,357,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GATCCAGGTCTCCTTGTAGTGG -3'
(R):5'- TGTGTACAGGTGAGCTCTGAC -3'

Sequencing Primer
(F):5'- GGGGATACTCAGACCTCCCTTC -3'
(R):5'- TACAGGTGAGCTCTGACTAGGG -3'

Posted On

2016-04-15