Mutagenetix > Incidental Mutation

Incidental Mutation 'R7687:Itga2'

593170

Institutional Source

Beutler Lab

Gene Symbol

Itga2

Ensembl Gene

ENSMUSG00000015533

Gene Name

integrin alpha 2

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7687 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114969617-115068636 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 115002796 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 565 (G565C)

Ref Sequence

ENSEMBL: ENSMUSP00000053891 (fasta)

Gene Model

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

AlphaFold

Q62469

Predicted Effect

probably damaging
Transcript: ENSMUST00000056117
AA Change: G565C

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

SMART Domains

Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533
AA Change: G565C

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,297,341 (GRCm39)	K2383R	probably benign	Het
Acly	C	T	11: 100,395,680 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,468,311 (GRCm39)	I276F	possibly damaging	Het
Cdc14b	A	T	13: 64,357,007 (GRCm39)	D419E	probably benign	Het
Celsr2	G	T	3: 108,305,085 (GRCm39)	P2165T	probably benign	Het
Clk4	A	G	11: 51,172,225 (GRCm39)	D476G	probably benign	Het
Dera	A	G	6: 137,813,878 (GRCm39)	T10A		Het
Dip2c	A	T	13: 9,654,617 (GRCm39)	T742S	probably benign	Het
Dohh	C	A	10: 81,223,640 (GRCm39)	A231E	probably benign	Het
Dot1l	T	G	10: 80,625,202 (GRCm39)	S1150A	possibly damaging	Het
Eea1	T	A	10: 95,862,460 (GRCm39)	I794N	probably benign	Het
En2	T	C	5: 28,375,287 (GRCm39)	S277P	probably damaging	Het
Erich1	A	G	8: 14,080,691 (GRCm39)	L276P	probably damaging	Het
Flnb	A	G	14: 7,924,224 (GRCm38)	N1779S	probably damaging	Het
Frzb	T	A	2: 80,254,979 (GRCm39)	T186S	probably benign	Het
Gdf7	T	A	12: 8,348,257 (GRCm39)	R347*	probably null	Het
Ighv9-4	T	C	12: 114,263,883 (GRCm39)	I17V	not run	Het
Ipo13	G	A	4: 117,769,088 (GRCm39)	P235S	probably benign	Het
Kcnc4	CCCGCCGCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGCCGCCGCCGCCGC	3: 107,365,925 (GRCm39)		probably benign	Het
Kcnk10	A	G	12: 98,401,355 (GRCm39)	I440T	probably damaging	Het
Kdm3a	T	A	6: 71,576,476 (GRCm39)	K779N	possibly damaging	Het
Kmt2d	C	T	15: 98,760,001 (GRCm39)	D1086N	unknown	Het
Kntc1	A	G	5: 123,897,152 (GRCm39)	I172V	probably benign	Het
Maip1	A	G	1: 57,451,003 (GRCm39)	E215G	probably damaging	Het
Mms19	A	T	19: 41,943,607 (GRCm39)	M417K	possibly damaging	Het
Mslnl	T	C	17: 25,962,157 (GRCm39)	V185A	probably damaging	Het
Naa11	A	T	5: 97,539,648 (GRCm39)	V170E	probably benign	Het
Ncapg	C	T	5: 45,857,227 (GRCm39)	P980S	probably benign	Het
Or2aj5	T	C	16: 19,424,485 (GRCm39)	N310S	probably benign	Het
Pbxip1	A	G	3: 89,355,506 (GRCm39)	D675G	probably damaging	Het
Pdlim5	A	G	3: 141,983,608 (GRCm39)	S382P	probably benign	Het
Pkd1l1	T	A	11: 8,804,390 (GRCm39)	I2184F		Het
Plau	A	G	14: 20,889,866 (GRCm39)	Y237C	probably damaging	Het
Ppl	T	C	16: 4,915,806 (GRCm39)	T586A	probably benign	Het
Rapgef6	T	G	11: 54,551,901 (GRCm39)	I923S	possibly damaging	Het
Rbfox2	C	T	15: 77,190,694 (GRCm39)	G17D	unknown	Het
Sema3b	T	C	9: 107,481,013 (GRCm39)	D108G	probably damaging	Het
Slc6a20a	A	G	9: 123,485,331 (GRCm39)	I297T	probably damaging	Het
Slit1	A	G	19: 41,639,128 (GRCm39)	F261L	probably benign	Het
Tcp10a	T	A	17: 7,612,507 (GRCm39)	V433D	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tll1	G	T	8: 64,574,526 (GRCm39)	Y109*	probably null	Het
Tmem79	A	G	3: 88,239,888 (GRCm39)	V274A	probably damaging	Het
Tnfrsf23	G	A	7: 143,235,199 (GRCm39)	S55L	probably benign	Het
Ubd	T	C	17: 37,504,865 (GRCm39)		probably null	Het
Ubl3	C	A	5: 148,442,985 (GRCm39)	R105L	possibly damaging	Het
Ubl7	A	T	9: 57,821,867 (GRCm39)	D72V	probably damaging	Het
Wdr55	T	C	18: 36,895,076 (GRCm39)	S81P	probably damaging	Het
Wtip	T	C	7: 33,816,044 (GRCm39)	Y344C	probably damaging	Het
Zfp488	A	G	14: 33,692,357 (GRCm39)	S269P	possibly damaging	Het
Zkscan2	A	C	7: 123,099,085 (GRCm39)	S36A	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
R0029: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
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'- TGGATGATGCGGTCTAGCTC -3'
(R):5'- ACTACACGTGGAGAATCATCAATAC -3'

Sequencing Primer
(F):5'- GCGGTCTAGCTCCAGCATTTATG -3'
(R):5'- GAAATCTTGTCTAGACATAGCTGC -3'

Posted On

2019-11-12