Mutagenetix > Incidental Mutation

Incidental Mutation 'R9779:Itga2b'

733927

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

Accession Numbers

Essential gene?

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

Stock #

R9779 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102344123-102360709 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102348147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 818 (N818S)

Ref Sequence

ENSEMBL: ENSMUSP00000099375 (fasta)

Gene Model

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

AlphaFold

Q9QUM0

Predicted Effect

probably damaging
Transcript: ENSMUST00000103086
AA Change: N818S

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

SMART Domains

Protein: ENSMUSP00000099375
Gene: ENSMUSG00000034664
AA Change: N818S

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.6%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	G	11: 53,263,734 (GRCm39)	Y251*	probably null	Het
Amdhd1	G	T	10: 93,370,474 (GRCm39)	F121L	possibly damaging	Het
Apon	A	T	10: 128,091,065 (GRCm39)	T248S	probably benign	Het
Arhgap28	A	T	17: 68,152,764 (GRCm39)	I719K	probably benign	Het
Atf7ip2	A	T	16: 10,055,044 (GRCm39)	K270N	possibly damaging	Het
Atp2c1	A	G	9: 105,291,919 (GRCm39)	V881A	probably damaging	Het
Atp6v0a1	C	T	11: 100,924,938 (GRCm39)	T341M	probably damaging	Het
Cep192	T	C	18: 67,968,348 (GRCm39)	V944A	probably damaging	Het
Cplane1	C	A	15: 8,230,786 (GRCm39)	T1021K	possibly damaging	Het
Cyp26b1	T	C	6: 84,552,113 (GRCm39)	T342A	probably benign	Het
Cyp2c37	A	G	19: 39,998,323 (GRCm39)	E405G	probably benign	Het
Dab2	T	C	15: 6,460,525 (GRCm39)	S478P	probably benign	Het
Diablo	A	G	5: 123,662,132 (GRCm39)		probably null	Het
Dnajc8	A	G	4: 132,277,737 (GRCm39)	E174G	possibly damaging	Het
Eif4g1	T	C	16: 20,498,251 (GRCm39)	V336A	probably damaging	Het
Eif5a	C	T	11: 69,810,021 (GRCm39)	V41I	probably benign	Het
Epb41l5	C	T	1: 119,545,093 (GRCm39)		probably null	Het
F12	A	C	13: 55,566,012 (GRCm39)	V565G	probably damaging	Het
Fras1	C	A	5: 96,717,353 (GRCm39)	T389N	probably damaging	Het
Galnt13	T	A	2: 54,623,062 (GRCm39)	D69E	probably benign	Het
Golph3l	C	T	3: 95,499,041 (GRCm39)	T61I	probably damaging	Het
Grm3	A	T	5: 9,561,656 (GRCm39)	N731K	possibly damaging	Het
Hmgxb4	C	T	8: 75,750,629 (GRCm39)	S484F	possibly damaging	Het
Hsd17b11	C	A	5: 104,157,771 (GRCm39)	V114F	probably damaging	Het
Hspa1a	C	T	17: 35,190,778 (GRCm39)	V42M	probably damaging	Het
Igf1r	A	G	7: 67,654,065 (GRCm39)	Y201C	probably damaging	Het
Inf2	C	A	12: 112,574,786 (GRCm39)	P786T	unknown	Het
Ints12	T	G	3: 132,812,752 (GRCm39)	V236G	probably benign	Het
Itgb4	T	C	11: 115,882,485 (GRCm39)	L853P	probably damaging	Het
Kap	A	G	6: 133,829,006 (GRCm39)	V42A	probably benign	Het
Kcnk1	T	C	8: 126,751,807 (GRCm39)	S138P	probably damaging	Het
Klra2	G	A	6: 131,198,801 (GRCm39)	P247S	unknown	Het
Lrba	T	C	3: 86,233,078 (GRCm39)	I813T	probably damaging	Het
Lrrc27	A	T	7: 138,816,886 (GRCm39)	Q428L	possibly damaging	Het
Macf1	G	A	4: 123,348,789 (GRCm39)	T4046I	probably benign	Het
Mast3	T	C	8: 71,238,127 (GRCm39)	T521A	probably damaging	Het
Meox1	T	C	11: 101,769,470 (GRCm39)	E242G	probably benign	Het
Neo1	A	T	9: 58,886,009 (GRCm39)	L316*	probably null	Het
Notch3	A	G	17: 32,372,757 (GRCm39)	Y605H	probably damaging	Het
Nsf	T	C	11: 103,719,352 (GRCm39)	D650G	probably damaging	Het
Obscn	C	A	11: 59,026,441 (GRCm39)	R254L	probably benign	Het
Odam	G	A	5: 88,037,327 (GRCm39)		probably null	Het
Or5v1b	A	T	17: 37,841,048 (GRCm39)	Y60F	probably damaging	Het
Or7g12	A	T	9: 18,900,135 (GRCm39)	M284L	probably benign	Het
Pcdhb9	A	T	18: 37,535,253 (GRCm39)	M416L	probably benign	Het
Plcz1	A	T	6: 139,947,882 (GRCm39)	I500N	possibly damaging	Het
Prkn	T	C	17: 11,854,318 (GRCm39)	S285P	possibly damaging	Het
Rab14	G	A	2: 35,080,047 (GRCm39)	T50I		Het
Rag1	A	T	2: 101,474,153 (GRCm39)	Y330N	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rasgrf1	G	T	9: 89,873,551 (GRCm39)	C620F	probably damaging	Het
Rhbdl3	A	G	11: 80,214,317 (GRCm39)	T143A	probably damaging	Het
Robo2	A	C	16: 73,767,965 (GRCm39)	M609R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Slc49a4	T	C	16: 35,543,186 (GRCm39)	D316G	probably benign	Het
Sod3	G	A	5: 52,525,435 (GRCm39)	V45I	probably benign	Het
Ticrr	A	G	7: 79,328,802 (GRCm39)	D647G	probably benign	Het
Tmem119	G	A	5: 113,933,204 (GRCm39)	S199L	possibly damaging	Het
Tmem63c	T	A	12: 87,104,419 (GRCm39)	I80N	probably damaging	Het
Trp53bp1	A	T	2: 121,066,469 (GRCm39)	D752E	probably damaging	Het
Ttn	A	G	2: 76,550,570 (GRCm39)	S31571P	probably damaging	Het
Ttn	A	T	2: 76,667,146 (GRCm39)	S11487T	unknown	Het
Vmn1r123	T	C	7: 20,896,111 (GRCm39)	M1T	probably null	Het
Vmn1r85	A	T	7: 12,818,308 (GRCm39)	S279T	probably benign	Het
Vps13d	A	G	4: 144,798,972 (GRCm39)	V3635A		Het
Wdr95	A	G	5: 149,505,293 (GRCm39)	D358G	probably benign	Het
Zfp1005	A	G	2: 150,108,064 (GRCm39)	D8G	possibly damaging	Het
Zfp764l1	A	T	7: 126,991,469 (GRCm39)	C173S	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
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
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
Z1177:Itga2b	UTSW	11	102,357,902 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACACAATCAATTCGCTGC -3'
(R):5'- ACTTGGACAGATGGGTCTCC -3'

Sequencing Primer
(F):5'- ACACCCTGCTCTGGCTGTG -3'
(R):5'- CATATGAAGGTCCTGGGA -3'

Posted On

2022-11-14