Mutagenetix > Incidental Mutation

Incidental Mutation 'R0029:Itga2'

44589

Institutional Source

Beutler Lab

Gene Symbol

Itga2

Ensembl Gene

ENSMUSG00000015533

Gene Name

integrin alpha 2

Synonyms

DX5, VLA-2 receptor, alpha 2 subunit, CD49B

MMRRC Submission

038323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114969617-115068636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 115007032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 432 (S432L)

Ref Sequence

ENSEMBL: ENSMUSP00000053891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056117]

AlphaFold

Q62469

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056117
AA Change: S432L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: S432L

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Int_alpha	41	96	4.91e-4	SMART
VWA	169	359	2.42e-39	SMART
Blast:VWA	364	424	4e-26	BLAST
Int_alpha	430	481	2.59e-3	SMART
Int_alpha	484	541	3.5e-9	SMART
Int_alpha	547	602	3.11e-15	SMART
Int_alpha	611	669	2.52e-1	SMART
low complexity region	890	910	N/A	INTRINSIC
transmembrane domain	1129	1151	N/A	INTRINSIC
Pfam:Integrin_alpha	1152	1166	9e-7	PFAM

Meta Mutation Damage Score

0.6277

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

94% (48/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha subunit of a transmembrane receptor for collagens and related proteins. The encoded protein forms a heterodimer with a beta subunit and mediates the adhesion of platelets and other cell types to the extracellular matrix. Loss of the encoded protein is associated with bleeding disorder platelet-type 9. Antibodies against this protein are found in several immune disorders, including neonatal alloimmune thrombocytopenia. This gene is located adjacent to a related alpha subunit gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygotes for targeted null mutations were viable, fertile, showed no overt anatomical defects, and exhibited no bleeding anomalies. Platelet, primary fibroblast and keratinocytes from homozygous mutant mice show less efficient adhesion to collagens in vitro. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(6)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,225 (GRCm39)	F434L	probably benign	Het
Abt1	A	T	13: 23,606,678 (GRCm39)	F141Y	possibly damaging	Het
Anapc15-ps	A	G	10: 95,508,857 (GRCm39)	I141T	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Ccn4	C	T	15: 66,784,713 (GRCm39)	R129C	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cpa4	A	G	6: 30,585,044 (GRCm39)	Y276C	probably damaging	Het
Cpt1a	A	G	19: 3,431,674 (GRCm39)	D698G	probably benign	Het
Crebbp	T	C	16: 3,935,307 (GRCm39)	T861A	probably damaging	Het
Dpy19l2	T	A	9: 24,469,397 (GRCm39)	D753V	probably damaging	Het
Exosc7	A	T	9: 122,948,302 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,157,357 (GRCm39)	D244V	probably damaging	Het
Fgd5	A	G	6: 92,044,539 (GRCm39)	D1260G	probably benign	Het
Gapvd1	T	A	2: 34,568,153 (GRCm39)	I1404F	probably damaging	Het
Gas7	A	G	11: 67,534,163 (GRCm39)	S88G	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Il23r	A	C	6: 67,455,929 (GRCm39)		probably null	Het
Impg1	T	C	9: 80,305,653 (GRCm39)	D138G	probably damaging	Het
Kirrel2	A	G	7: 30,152,590 (GRCm39)		probably benign	Het
Lipm	T	C	19: 34,093,948 (GRCm39)		probably benign	Het
Lrpap1	T	C	5: 35,255,021 (GRCm39)	N205S	possibly damaging	Het
Mboat4	T	G	8: 34,587,363 (GRCm39)	F87V	probably damaging	Het
Nadsyn1	G	C	7: 143,359,815 (GRCm39)	Q386E	probably benign	Het
Nell1	G	A	7: 49,770,463 (GRCm39)		probably benign	Het
Or5ac25	T	C	16: 59,181,904 (GRCm39)	R226G	probably benign	Het
Or8g35	T	A	9: 39,381,956 (GRCm39)	E22V	probably benign	Het
Pard3	G	T	8: 128,153,239 (GRCm39)		probably benign	Het
Per2	C	A	1: 91,351,434 (GRCm39)	R1024L	possibly damaging	Het
Phf11c	T	C	14: 59,622,364 (GRCm39)	D216G	probably benign	Het
Polk	G	A	13: 96,653,178 (GRCm39)	T74I	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psmb7	T	A	2: 38,523,919 (GRCm39)	H152L	probably damaging	Het
Ralgps1	A	T	2: 33,031,031 (GRCm39)	D498E	probably benign	Het
Slc26a2	G	A	18: 61,335,382 (GRCm39)	P24S	possibly damaging	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Spmip11	T	C	15: 98,483,190 (GRCm39)		probably null	Het
Stk38	T	C	17: 29,201,112 (GRCm39)	E188G	probably benign	Het
Sulf2	T	C	2: 165,958,893 (GRCm39)	N105S	possibly damaging	Het
Sult2a3	T	A	7: 13,806,999 (GRCm39)	M228L	probably benign	Het
Svil	C	A	18: 5,063,286 (GRCm39)	D852E	probably benign	Het
Tcaf2	A	T	6: 42,607,093 (GRCm39)	L287*	probably null	Het
Tmem132e	A	T	11: 82,335,587 (GRCm39)	I890F	probably damaging	Het
Tmem63a	A	G	1: 180,790,031 (GRCm39)	Y401C	probably benign	Het
Ttn	T	C	2: 76,596,850 (GRCm39)	E20021G	probably damaging	Het
Ubac1	G	T	2: 25,911,455 (GRCm39)	T31N	probably benign	Het
Usp29	T	C	7: 6,964,580 (GRCm39)	L141P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Vmn1r204	A	G	13: 22,740,588 (GRCm39)	Y73C	probably benign	Het
Vmn2r2	T	C	3: 64,024,365 (GRCm39)	I739V	probably benign	Het

Other mutations in Itga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Itga2	APN	13	115,014,161 (GRCm39)	missense	probably damaging	0.99
IGL01481:Itga2	APN	13	114,996,168 (GRCm39)	missense	possibly damaging	0.63
IGL01666:Itga2	APN	13	114,973,627 (GRCm39)	critical splice donor site	probably null
IGL01730:Itga2	APN	13	114,990,947 (GRCm39)	splice site	probably benign
IGL01965:Itga2	APN	13	114,984,600 (GRCm39)	splice site	probably benign
IGL01987:Itga2	APN	13	114,984,482 (GRCm39)	nonsense	probably null
IGL02334:Itga2	APN	13	115,001,845 (GRCm39)	critical splice donor site	probably null
IGL02381:Itga2	APN	13	114,993,258 (GRCm39)	missense	probably damaging	1.00
IGL02562:Itga2	APN	13	114,973,106 (GRCm39)	unclassified	probably benign
IGL03191:Itga2	APN	13	114,973,020 (GRCm39)	unclassified	probably benign
IGL03209:Itga2	APN	13	115,017,168 (GRCm39)	missense	probably damaging	1.00
P0007:Itga2	UTSW	13	115,002,735 (GRCm39)	missense	probably damaging	1.00
R0023:Itga2	UTSW	13	115,007,032 (GRCm39)	missense	possibly damaging	0.90
R0023:Itga2	UTSW	13	115,007,032 (GRCm39)	missense	possibly damaging	0.90
R0025:Itga2	UTSW	13	115,007,032 (GRCm39)	missense	possibly damaging	0.90
R0062:Itga2	UTSW	13	115,007,032 (GRCm39)	missense	possibly damaging	0.90
R0062:Itga2	UTSW	13	115,007,032 (GRCm39)	missense	possibly damaging	0.90
R0149:Itga2	UTSW	13	114,973,115 (GRCm39)	unclassified	probably benign
R0152:Itga2	UTSW	13	115,002,850 (GRCm39)	missense	probably benign	0.06
R0496:Itga2	UTSW	13	114,990,435 (GRCm39)	missense	probably benign	0.00
R0502:Itga2	UTSW	13	114,982,392 (GRCm39)	missense	probably benign	0.15
R0599:Itga2	UTSW	13	114,993,186 (GRCm39)	splice site	probably benign
R0688:Itga2	UTSW	13	114,976,090 (GRCm39)	missense	probably benign	0.00
R0704:Itga2	UTSW	13	114,998,911 (GRCm39)	missense	possibly damaging	0.91
R0760:Itga2	UTSW	13	114,996,168 (GRCm39)	missense	possibly damaging	0.63
R0811:Itga2	UTSW	13	115,007,150 (GRCm39)	missense	possibly damaging	0.92
R0812:Itga2	UTSW	13	115,007,150 (GRCm39)	missense	possibly damaging	0.92
R0836:Itga2	UTSW	13	114,993,215 (GRCm39)	missense	probably damaging	0.99
R1196:Itga2	UTSW	13	115,002,691 (GRCm39)	critical splice donor site	probably null
R1546:Itga2	UTSW	13	114,985,956 (GRCm39)	missense	possibly damaging	0.63
R1639:Itga2	UTSW	13	114,993,832 (GRCm39)	missense	probably benign	0.00
R1834:Itga2	UTSW	13	114,993,263 (GRCm39)	missense	probably damaging	1.00
R1834:Itga2	UTSW	13	114,993,262 (GRCm39)	missense	probably damaging	0.98
R2180:Itga2	UTSW	13	114,985,917 (GRCm39)	missense	possibly damaging	0.67
R2190:Itga2	UTSW	13	115,007,141 (GRCm39)	missense	probably benign	0.05
R2518:Itga2	UTSW	13	115,017,578 (GRCm39)	missense	probably damaging	1.00
R3885:Itga2	UTSW	13	115,005,835 (GRCm39)	missense	probably benign	0.35
R3962:Itga2	UTSW	13	114,976,054 (GRCm39)	missense	probably damaging	0.99
R4094:Itga2	UTSW	13	115,007,161 (GRCm39)	missense	probably benign	0.01
R4193:Itga2	UTSW	13	115,023,185 (GRCm39)	nonsense	probably null
R4290:Itga2	UTSW	13	115,002,709 (GRCm39)	missense	probably damaging	0.98
R4459:Itga2	UTSW	13	114,980,019 (GRCm39)	missense	probably damaging	0.97
R4460:Itga2	UTSW	13	114,980,019 (GRCm39)	missense	probably damaging	0.97
R4628:Itga2	UTSW	13	115,014,229 (GRCm39)	missense	probably benign	0.03
R4655:Itga2	UTSW	13	115,009,805 (GRCm39)	missense	probably benign	0.00
R4716:Itga2	UTSW	13	114,993,909 (GRCm39)	missense	probably damaging	0.98
R4896:Itga2	UTSW	13	114,990,302 (GRCm39)	nonsense	probably null
R5093:Itga2	UTSW	13	114,992,717 (GRCm39)	missense	probably benign	0.00
R5488:Itga2	UTSW	13	114,979,971 (GRCm39)	missense	probably damaging	1.00
R5489:Itga2	UTSW	13	114,979,971 (GRCm39)	missense	probably damaging	1.00
R5743:Itga2	UTSW	13	115,021,042 (GRCm39)	missense	probably damaging	1.00
R5767:Itga2	UTSW	13	114,976,106 (GRCm39)	missense	possibly damaging	0.88
R5790:Itga2	UTSW	13	115,004,742 (GRCm39)	missense	probably benign	0.02
R5923:Itga2	UTSW	13	115,021,055 (GRCm39)	missense	probably benign	0.02
R6163:Itga2	UTSW	13	115,002,726 (GRCm39)	missense	probably damaging	1.00
R6227:Itga2	UTSW	13	114,976,097 (GRCm39)	missense	probably benign	0.30
R6278:Itga2	UTSW	13	114,982,424 (GRCm39)	missense	probably benign	0.05
R6283:Itga2	UTSW	13	115,005,786 (GRCm39)	missense	probably damaging	1.00
R6332:Itga2	UTSW	13	114,980,009 (GRCm39)	missense	probably benign
R6510:Itga2	UTSW	13	115,009,816 (GRCm39)	missense	probably damaging	1.00
R6742:Itga2	UTSW	13	114,973,061 (GRCm39)	missense	possibly damaging	0.93
R6869:Itga2	UTSW	13	115,012,073 (GRCm39)	splice site	probably null
R7073:Itga2	UTSW	13	114,996,149 (GRCm39)	missense	probably damaging	1.00
R7111:Itga2	UTSW	13	115,037,066 (GRCm39)	missense	unknown
R7236:Itga2	UTSW	13	115,014,227 (GRCm39)	missense	probably benign
R7269:Itga2	UTSW	13	115,023,225 (GRCm39)	nonsense	probably null
R7296:Itga2	UTSW	13	114,993,930 (GRCm39)	splice site	probably null
R7350:Itga2	UTSW	13	114,973,738 (GRCm39)	missense	probably damaging	0.98
R7375:Itga2	UTSW	13	115,005,753 (GRCm39)	missense	probably benign	0.06
R7501:Itga2	UTSW	13	115,012,095 (GRCm39)	missense	probably damaging	1.00
R7687:Itga2	UTSW	13	115,002,796 (GRCm39)	missense	probably damaging	1.00
R7766:Itga2	UTSW	13	114,990,427 (GRCm39)	missense	probably benign
R7810:Itga2	UTSW	13	115,002,715 (GRCm39)	missense	probably benign	0.15
R8038:Itga2	UTSW	13	114,990,291 (GRCm39)	missense	probably damaging	1.00
R8948:Itga2	UTSW	13	115,009,866 (GRCm39)	missense	probably damaging	1.00
R9132:Itga2	UTSW	13	115,014,298 (GRCm39)	nonsense	probably null
R9153:Itga2	UTSW	13	115,001,941 (GRCm39)	missense	probably benign	0.00
R9159:Itga2	UTSW	13	115,014,298 (GRCm39)	nonsense	probably null
R9651:Itga2	UTSW	13	115,020,991 (GRCm39)	missense	probably benign	0.00
R9652:Itga2	UTSW	13	115,020,991 (GRCm39)	missense	probably benign	0.00
R9653:Itga2	UTSW	13	115,020,991 (GRCm39)	missense	probably benign	0.00
Z1088:Itga2	UTSW	13	114,993,868 (GRCm39)	missense	possibly damaging	0.46
Z1177:Itga2	UTSW	13	114,990,237 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTCAGGTAGTGAACATCACTGGATGC -3'
(R):5'- TGGATGCCACAGCTCATGGTAAGC -3'

Sequencing Primer
(F):5'- TTTTGGAGACCCAACTGGC -3'
(R):5'- GGTGTTTGACTCACCTGAATTCC -3'

Posted On

2013-06-11