Mutagenetix > Incidental Mutation

Incidental Mutation 'R7664:Itga2b'

591810

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

045704-MU

Accession Numbers

Essential gene?

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

Stock #

R7664 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102344123-102360709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102351666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 553 (L553P)

Ref Sequence

ENSEMBL: ENSMUSP00000099375 (fasta)

Gene Model

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

AlphaFold

Q9QUM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103086
AA Change: L553P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: L553P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (83/84)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	C	T	11: 84,136,175 (GRCm39)	T510I	probably damaging	Het
Akap12	G	T	10: 4,303,748 (GRCm39)	W291L	probably damaging	Het
Akip1	A	T	7: 109,308,187 (GRCm39)	I152F	probably benign	Het
Alpk2	T	A	18: 65,440,073 (GRCm39)	Y440F	probably benign	Het
Aox3	A	G	1: 58,158,698 (GRCm39)	T90A	probably damaging	Het
Arhgef18	A	T	8: 3,436,390 (GRCm39)	E228V	probably damaging	Het
B4galnt4	A	G	7: 140,647,626 (GRCm39)	K405E	probably damaging	Het
BC034090	T	C	1: 155,117,377 (GRCm39)	E247G	probably damaging	Het
Camkk2	A	T	5: 122,894,645 (GRCm39)	F216I	unknown	Het
Carm1	A	C	9: 21,498,286 (GRCm39)	K430T	probably benign	Het
Ccdc13	A	G	9: 121,643,279 (GRCm39)	V374A	probably benign	Het
Cdh26	T	A	2: 178,111,835 (GRCm39)	M465K	probably benign	Het
Ceacam10	A	T	7: 24,477,757 (GRCm39)	M91L	probably benign	Het
Chrnb1	T	C	11: 69,677,850 (GRCm39)	T301A	possibly damaging	Het
Clec4a3	A	G	6: 122,943,381 (GRCm39)	D101G	probably benign	Het
Cmss1	G	A	16: 57,138,310 (GRCm39)	P59S	probably benign	Het
Crhr1	T	A	11: 104,059,968 (GRCm39)	F138L	probably benign	Het
Cxcl5	A	T	5: 90,907,890 (GRCm39)	I107F	probably damaging	Het
Cxcr1	A	G	1: 74,231,834 (GRCm39)	S63P	probably damaging	Het
Cxcr5	A	G	9: 44,424,607 (GRCm39)	L350P	probably benign	Het
D5Ertd579e	A	T	5: 36,771,961 (GRCm39)	H811Q	probably benign	Het
Ddx46	T	G	13: 55,806,864 (GRCm39)	I499S	probably damaging	Het
Ddx51	T	G	5: 110,804,785 (GRCm39)		probably null	Het
Dnaja1	C	T	4: 40,724,090 (GRCm39)	P84S	probably benign	Het
Dnajc27	A	G	12: 4,153,132 (GRCm39)	K203E	possibly damaging	Het
Fam107b	T	A	2: 3,571,747 (GRCm39)	C24S	probably damaging	Het
Fancg	T	C	4: 43,010,066 (GRCm39)	K11R	probably benign	Het
Fnip1	T	C	11: 54,356,951 (GRCm39)	L44P	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Heca	A	T	10: 17,778,118 (GRCm39)	L493Q	probably damaging	Het
Hrh2	C	T	13: 54,368,875 (GRCm39)	P284S	probably damaging	Het
Ifnar1	C	G	16: 91,292,082 (GRCm39)	A141G	probably damaging	Het
Igkv6-32	T	A	6: 70,051,282 (GRCm39)	T25S	probably damaging	Het
Inppl1	T	C	7: 101,479,304 (GRCm39)	H525R	probably damaging	Het
Itgbl1	A	G	14: 124,083,962 (GRCm39)	Y280C	probably damaging	Het
Kap	T	C	6: 133,828,920 (GRCm39)	I54V	probably benign	Het
Kcnh4	G	T	11: 100,641,148 (GRCm39)	L434M	probably damaging	Het
Klhl14	T	C	18: 21,687,706 (GRCm39)	D572G	probably damaging	Het
Klhl41	T	A	2: 69,501,061 (GRCm39)	L174Q	probably damaging	Het
Lrp2	T	G	2: 69,337,076 (GRCm39)	H1232P	probably damaging	Het
Lyar	A	G	5: 38,388,161 (GRCm39)	E229G	probably benign	Het
Mark4	A	T	7: 19,177,151 (GRCm39)	L226Q	probably damaging	Het
Mcm8	A	G	2: 132,685,453 (GRCm39)	K823R	probably damaging	Het
Mfsd6	A	T	1: 52,748,212 (GRCm39)	S218T	probably benign	Het
Mlip	A	T	9: 77,045,828 (GRCm39)	I884N	possibly damaging	Het
Mmrn1	A	G	6: 60,953,689 (GRCm39)	T657A	probably benign	Het
Morc2b	A	G	17: 33,355,376 (GRCm39)	Y799H	probably benign	Het
Muc16	A	T	9: 18,519,018 (GRCm39)	I6304N	probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Naaladl2	T	C	3: 24,112,303 (GRCm39)	Y593C	probably damaging	Het
Ncor1	T	C	11: 62,289,154 (GRCm39)	E341G	probably damaging	Het
Nrg1	G	T	8: 32,499,169 (GRCm39)		probably null	Het
Nudt3	A	G	17: 27,842,149 (GRCm39)	L4P	probably benign	Het
Odf2l	T	A	3: 144,854,345 (GRCm39)	H493Q	probably benign	Het
Ost4	A	C	5: 31,065,007 (GRCm39)		probably null	Het
Patj	A	T	4: 98,385,187 (GRCm39)	Q840L	possibly damaging	Het
Pcdh20	T	A	14: 88,706,803 (GRCm39)	T166S	probably benign	Het
Pcdhb4	T	A	18: 37,442,293 (GRCm39)	D534E	probably damaging	Het
Pik3ap1	T	C	19: 41,310,069 (GRCm39)	D417G	possibly damaging	Het
Ppwd1	A	T	13: 104,356,798 (GRCm39)	V239E	probably damaging	Het
Prdm9	T	A	17: 15,775,833 (GRCm39)	Y206F	probably damaging	Het
Ranbp6	A	G	19: 29,789,476 (GRCm39)	V292A	possibly damaging	Het
Rgs21	T	A	1: 144,416,987 (GRCm39)	M22L	probably benign	Het
Rnf17	A	T	14: 56,676,335 (GRCm39)	I399F	probably damaging	Het
Rph3a	T	A	5: 121,099,339 (GRCm39)	Q184L	probably benign	Het
Scrn3	T	C	2: 73,149,714 (GRCm39)	Y137H	possibly damaging	Het
Sec14l4	C	A	11: 3,994,178 (GRCm39)	Y342*	probably null	Het
Serpinb11	G	A	1: 107,307,718 (GRCm39)	G383D	probably damaging	Het
Sf3b1	A	G	1: 55,026,626 (GRCm39)	V1261A	probably damaging	Het
Sh3tc2	C	T	18: 62,148,042 (GRCm39)	Q1251*	probably null	Het
Skor1	A	T	9: 63,049,045 (GRCm39)	D845E	probably benign	Het
Slc39a7	A	G	17: 34,248,551 (GRCm39)	L364P	probably damaging	Het
Snrpn	T	C	7: 59,637,239 (GRCm39)	I26V	probably benign	Het
Snx5	A	T	2: 144,099,924 (GRCm39)		probably null	Het
Spag9	T	C	11: 93,992,986 (GRCm39)		probably null	Het
Srrm2	T	C	17: 24,039,955 (GRCm39)	S2200P	probably damaging	Het
Stx11	T	C	10: 12,817,070 (GRCm39)	E218G	probably damaging	Het
Tmem151b	T	C	17: 45,856,861 (GRCm39)	N193S	probably damaging	Het
Tmem87b	A	T	2: 128,690,974 (GRCm39)	D525V	possibly damaging	Het
Ubtfl1	A	T	9: 18,320,782 (GRCm39)	R103S	possibly damaging	Het
Vmn1r196	T	A	13: 22,477,932 (GRCm39)	D190E	probably damaging	Het
Vmn2r67	T	A	7: 84,805,019 (GRCm39)	D31V	probably benign	Het
Zbtb22	T	A	17: 34,137,553 (GRCm39)	M566K	probably benign	Het
Zfp568	A	T	7: 29,721,715 (GRCm39)	H220L	probably benign	Het
Zfp974	A	T	7: 27,610,137 (GRCm39)	S529R	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
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
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'- AATTGGGCTCAGCTTGTCCC -3'
(R):5'- ATTCCTCAGAAGCTGCGTG -3'

Sequencing Primer
(F):5'- ACGGCAAGAGTCTGGCTATCTG -3'
(R):5'- TCAGAAGCTGCGTGAGTGC -3'

Posted On

2019-11-12