Mutagenetix > Incidental Mutation

Incidental Mutation 'R5739:Itga2b'

444707

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

043351-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R5739 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102344123-102360709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102356735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 275 (D275E)

Ref Sequence

ENSEMBL: ENSMUSP00000099375 (fasta)

Gene Model

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

AlphaFold

Q9QUM0

Predicted Effect

probably benign
Transcript: ENSMUST00000103086
AA Change: D275E

PolyPhen 2 Score 0.138 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: D275E

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: ENSMUST00000130757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145925

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149519

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (82/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,220,717 (GRCm39)	S50T	probably benign	Het
A930011G23Rik	A	G	5: 99,369,289 (GRCm39)	L529P	probably damaging	Het
Acer2	A	T	4: 86,818,792 (GRCm39)	N147Y	probably damaging	Het
Adamtsl1	A	G	4: 86,150,901 (GRCm39)	E353G	probably damaging	Het
Alg6	T	C	4: 99,632,737 (GRCm39)	F60L	probably benign	Het
Ano6	A	T	15: 95,811,260 (GRCm39)	D120V	probably damaging	Het
Armc3	A	G	2: 19,258,728 (GRCm39)	D265G	possibly damaging	Het
Aurkc	A	T	7: 7,005,859 (GRCm39)	Y249F	probably benign	Het
Bmal1	G	A	7: 112,884,238 (GRCm39)	R92Q	probably damaging	Het
Cacna2d2	A	G	9: 107,389,528 (GRCm39)	I274V	probably benign	Het
Camk2n2	C	A	16: 20,439,830 (GRCm39)	G39C	probably damaging	Het
Ccdc39	A	G	3: 33,880,710 (GRCm39)	L419P	possibly damaging	Het
Cdh23	T	C	10: 60,141,388 (GRCm39)	M3117V	probably damaging	Het
Celsr3	A	G	9: 108,704,357 (GRCm39)	E280G	probably benign	Het
Cherp	TGCTGGTGGTGGGG	TG	8: 73,221,659 (GRCm39)		probably benign	Het
Clcn6	A	G	4: 148,098,646 (GRCm39)	V494A	probably damaging	Het
Col19a1	C	T	1: 24,376,996 (GRCm39)	G450S	probably damaging	Het
Crb2	T	G	2: 37,683,666 (GRCm39)	V1056G	probably damaging	Het
Crtac1	A	G	19: 42,290,612 (GRCm39)	F363S	probably damaging	Het
Dipk2a	A	T	9: 94,402,594 (GRCm39)	V356E	possibly damaging	Het
Dnaaf2	T	C	12: 69,243,715 (GRCm39)	S449G	probably benign	Het
Dnah7b	A	T	1: 46,273,152 (GRCm39)	I2427F	probably damaging	Het
Dnah8	T	A	17: 30,937,981 (GRCm39)	D1619E	probably benign	Het
Dock3	A	T	9: 106,850,995 (GRCm39)	S836T	possibly damaging	Het
Donson	A	T	16: 91,478,117 (GRCm39)		probably null	Het
Drc3	G	A	11: 60,265,956 (GRCm39)	R215H	possibly damaging	Het
Entpd2	T	C	2: 25,289,504 (GRCm39)	S329P	possibly damaging	Het
Eya2	T	C	2: 165,603,857 (GRCm39)	S332P	probably damaging	Het
Fam83f	T	A	15: 80,576,206 (GRCm39)	Y286N	probably damaging	Het
Fat4	T	C	3: 39,037,283 (GRCm39)	V3645A	probably benign	Het
G2e3	T	C	12: 51,419,287 (GRCm39)	F668L	possibly damaging	Het
Gm14403	T	A	2: 177,201,040 (GRCm39)	C329S	probably damaging	Het
Hmcn1	G	A	1: 150,684,448 (GRCm39)	T374I	probably benign	Het
Hmcn1	A	T	1: 150,634,225 (GRCm39)		probably null	Het
Hrnr	T	C	3: 93,230,436 (GRCm39)	S225P	unknown	Het
Ifi202b	C	T	1: 173,798,918 (GRCm39)		probably null	Het
Il10ra	A	T	9: 45,167,368 (GRCm39)	D394E	possibly damaging	Het
Jaml	A	T	9: 45,000,026 (GRCm39)	D108V	probably damaging	Het
Kir3dl1	G	A	X: 135,427,231 (GRCm39)	D56N	probably damaging	Het
Lrrtm1	T	C	6: 77,221,872 (GRCm39)	V443A	probably damaging	Het
Mkln1	T	A	6: 31,473,637 (GRCm39)	S126R	probably benign	Het
Myo19	T	C	11: 84,788,450 (GRCm39)	I354T	probably damaging	Het
Nucb1	A	T	7: 45,151,084 (GRCm39)	L99Q	probably damaging	Het
Or4f59	A	G	2: 111,873,128 (GRCm39)	F83S	probably damaging	Het
Pask	A	G	1: 93,249,778 (GRCm39)	S541P	probably benign	Het
Pdpr	A	T	8: 111,861,252 (GRCm39)	I749F	possibly damaging	Het
Pgap6	T	A	17: 26,339,425 (GRCm39)	F580I	probably damaging	Het
Phyhipl	T	C	10: 70,395,399 (GRCm39)	D269G	possibly damaging	Het
Pkdcc	A	G	17: 83,523,223 (GRCm39)	D110G	probably benign	Het
Ppox	A	G	1: 171,107,570 (GRCm39)	L115P	probably damaging	Het
Ppp1r12c	A	G	7: 4,500,281 (GRCm39)	L94P	probably damaging	Het
Ppp6r2	T	A	15: 89,143,276 (GRCm39)	M141K	probably benign	Het
Prl3d1	A	T	13: 27,283,995 (GRCm39)	H188L	probably benign	Het
Psmb3	T	A	11: 97,604,296 (GRCm39)		probably benign	Het
Pxdn	T	A	12: 30,032,333 (GRCm39)	S150T	probably benign	Het
Ripor3	T	C	2: 167,823,203 (GRCm39)	T903A	probably damaging	Het
Rnase4	T	C	14: 51,342,306 (GRCm39)	L10S	probably benign	Het
Rnf224	T	C	2: 25,126,012 (GRCm39)	T114A	probably benign	Het
Rp1l1	A	T	14: 64,269,619 (GRCm39)	E1735V	probably benign	Het
Rrp1b	T	A	17: 32,264,950 (GRCm39)	Y60N	probably damaging	Het
Rsbn1l	A	T	5: 21,110,814 (GRCm39)	V508E	probably damaging	Het
Rubcnl	T	C	14: 75,278,381 (GRCm39)		probably null	Het
Rxfp4	A	G	3: 88,559,209 (GRCm39)		probably benign	Het
Sdccag8	A	G	1: 176,653,797 (GRCm39)	T85A	probably benign	Het
Slc46a1	A	T	11: 78,357,975 (GRCm39)	I343F	possibly damaging	Het
Ssh2	A	G	11: 77,340,639 (GRCm39)	D597G	probably damaging	Het
Syne2	T	A	12: 76,044,239 (GRCm39)	V3942E	possibly damaging	Het
Timd4	T	C	11: 46,708,573 (GRCm39)	S200P	probably benign	Het
Tmc5	G	A	7: 118,265,834 (GRCm39)		probably null	Het
Trbv16	A	G	6: 41,129,013 (GRCm39)	T66A	probably benign	Het
Ttc3	A	T	16: 94,240,183 (GRCm39)	K1103*	probably null	Het
Ttc7b	A	G	12: 100,350,492 (GRCm39)	V458A	probably damaging	Het
Ubxn10	A	G	4: 138,448,134 (GRCm39)	S181P	probably benign	Het
Vmn2r11	A	G	5: 109,207,114 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,002,925 (GRCm39)	N112Y	probably benign	Het
Vmn2r5	T	C	3: 64,411,497 (GRCm39)	D357G	probably damaging	Het
Zc3h10	T	C	10: 128,380,670 (GRCm39)	N229S	probably benign	Het
Zfp407	T	C	18: 84,226,867 (GRCm39)	*2247W	probably null	Het
Zfyve1	C	A	12: 83,621,910 (GRCm39)	V162L	possibly 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
R4906:Itga2b	UTSW	11	102,351,985 (GRCm39)	missense	probably benign	0.43
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
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'- TCGGAATGCTAAGCGGTGAG -3'
(R):5'- CGCTGTGGATTCTAGTGAGATC -3'

Sequencing Primer
(F):5'- GGTGAGAGAGCCACTACTCAC -3'
(R):5'- CTAGTGAGATCTTGGGCACGC -3'

Posted On

2016-11-21