Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Itga2'

103321

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itga2

Ensembl Gene

ENSMUSG00000015533

Gene Name

integrin alpha 2

Synonyms

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

Accession Numbers

NCBI RefSeq: NM_008396.2; MGI: 96600

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

114833081-114932100 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 114837091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000053891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056117] [ENSMUST00000184245]

AlphaFold

Q62469

Predicted Effect

probably null
Transcript: ENSMUST00000056117

SMART Domains

Protein: ENSMUSP00000053891
Gene: ENSMUSG00000015533

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184245

SMART Domains

Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2675420;2183401
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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	A	7: 28,153,292	V1335M	probably damaging	Het
9530077C05Rik	A	G	9: 22,431,698	D163G	probably benign	Het
Adgrb3	C	A	1: 25,460,751	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,891,136	L297F	probably damaging	Het
Chrnd	A	T	1: 87,198,736	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,344,686	V645M	possibly damaging	Het
Csn3	T	C	5: 87,930,157	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570	V81I	possibly damaging	Het
Deptor	G	A	15: 55,149,379	R54Q	probably damaging	Het
Ell	A	G	8: 70,585,813	H400R	probably benign	Het
Itpr3	A	G	17: 27,117,178	I2293V	probably benign	Het
Mrps27	A	G	13: 99,409,816	E241G	probably damaging	Het
Mut	T	C	17: 40,958,811	L687P	probably damaging	Het
Myh9	C	T	15: 77,761,931	A1951T	probably benign	Het
Oca2	G	A	7: 56,314,811		probably null	Het
Olfr135	C	T	17: 38,208,889	L215F	probably benign	Het
Olfr215	T	A	6: 116,582,335	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,940,910	F264L	probably benign	Het
Ptpn23	T	C	9: 110,386,545	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,038,210	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486	Q848*	probably null	Het

Other mutations in Itga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Itga2	APN	13	114877625	missense	probably damaging	0.99
IGL01481:Itga2	APN	13	114859632	missense	possibly damaging	0.63
IGL01730:Itga2	APN	13	114854411	splice site	probably benign
IGL01965:Itga2	APN	13	114848064	splice site	probably benign
IGL01987:Itga2	APN	13	114847946	nonsense	probably null
IGL02334:Itga2	APN	13	114865309	critical splice donor site	probably null
IGL02381:Itga2	APN	13	114856722	missense	probably damaging	1.00
IGL02562:Itga2	APN	13	114836570	unclassified	probably benign
IGL03191:Itga2	APN	13	114836484	unclassified	probably benign
IGL03209:Itga2	APN	13	114880632	missense	probably damaging	1.00
P0007:Itga2	UTSW	13	114866199	missense	probably damaging	1.00
R0023:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0023:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0025:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0029:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0062:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0062:Itga2	UTSW	13	114870496	missense	possibly damaging	0.90
R0149:Itga2	UTSW	13	114836579	unclassified	probably benign
R0152:Itga2	UTSW	13	114866314	missense	probably benign	0.06
R0496:Itga2	UTSW	13	114853899	missense	probably benign	0.00
R0502:Itga2	UTSW	13	114845856	missense	probably benign	0.15
R0599:Itga2	UTSW	13	114856650	splice site	probably benign
R0688:Itga2	UTSW	13	114839554	missense	probably benign	0.00
R0704:Itga2	UTSW	13	114862375	missense	possibly damaging	0.91
R0760:Itga2	UTSW	13	114859632	missense	possibly damaging	0.63
R0811:Itga2	UTSW	13	114870614	missense	possibly damaging	0.92
R0812:Itga2	UTSW	13	114870614	missense	possibly damaging	0.92
R0836:Itga2	UTSW	13	114856679	missense	probably damaging	0.99
R1196:Itga2	UTSW	13	114866155	critical splice donor site	probably null
R1546:Itga2	UTSW	13	114849420	missense	possibly damaging	0.63
R1639:Itga2	UTSW	13	114857296	missense	probably benign	0.00
R1834:Itga2	UTSW	13	114856726	missense	probably damaging	0.98
R1834:Itga2	UTSW	13	114856727	missense	probably damaging	1.00
R2180:Itga2	UTSW	13	114849381	missense	possibly damaging	0.67
R2190:Itga2	UTSW	13	114870605	missense	probably benign	0.05
R2518:Itga2	UTSW	13	114881042	missense	probably damaging	1.00
R3885:Itga2	UTSW	13	114869299	missense	probably benign	0.35
R3962:Itga2	UTSW	13	114839518	missense	probably damaging	0.99
R4094:Itga2	UTSW	13	114870625	missense	probably benign	0.01
R4193:Itga2	UTSW	13	114886649	nonsense	probably null
R4290:Itga2	UTSW	13	114866173	missense	probably damaging	0.98
R4459:Itga2	UTSW	13	114843483	missense	probably damaging	0.97
R4460:Itga2	UTSW	13	114843483	missense	probably damaging	0.97
R4628:Itga2	UTSW	13	114877693	missense	probably benign	0.03
R4655:Itga2	UTSW	13	114873269	missense	probably benign	0.00
R4716:Itga2	UTSW	13	114857373	missense	probably damaging	0.98
R4896:Itga2	UTSW	13	114853766	nonsense	probably null
R5093:Itga2	UTSW	13	114856181	missense	probably benign	0.00
R5488:Itga2	UTSW	13	114843435	missense	probably damaging	1.00
R5489:Itga2	UTSW	13	114843435	missense	probably damaging	1.00
R5743:Itga2	UTSW	13	114884506	missense	probably damaging	1.00
R5767:Itga2	UTSW	13	114839570	missense	possibly damaging	0.88
R5790:Itga2	UTSW	13	114868206	missense	probably benign	0.02
R5923:Itga2	UTSW	13	114884519	missense	probably benign	0.02
R6163:Itga2	UTSW	13	114866190	missense	probably damaging	1.00
R6227:Itga2	UTSW	13	114839561	missense	probably benign	0.30
R6278:Itga2	UTSW	13	114845888	missense	probably benign	0.05
R6283:Itga2	UTSW	13	114869250	missense	probably damaging	1.00
R6332:Itga2	UTSW	13	114843473	missense	probably benign
R6510:Itga2	UTSW	13	114873280	missense	probably damaging	1.00
R6742:Itga2	UTSW	13	114836525	missense	possibly damaging	0.93
R6869:Itga2	UTSW	13	114875537	splice site	probably null
R7073:Itga2	UTSW	13	114859613	missense	probably damaging	1.00
R7111:Itga2	UTSW	13	114900530	missense	unknown
R7236:Itga2	UTSW	13	114877691	missense	probably benign
R7269:Itga2	UTSW	13	114886689	nonsense	probably null
R7296:Itga2	UTSW	13	114857394	splice site	probably null
R7350:Itga2	UTSW	13	114837202	missense	probably damaging	0.98
R7375:Itga2	UTSW	13	114869217	missense	probably benign	0.06
R7501:Itga2	UTSW	13	114875559	missense	probably damaging	1.00
R7687:Itga2	UTSW	13	114866260	missense	probably damaging	1.00
R7766:Itga2	UTSW	13	114853891	missense	probably benign
R7810:Itga2	UTSW	13	114866179	missense	probably benign	0.15
R8038:Itga2	UTSW	13	114853755	missense	probably damaging	1.00
R8948:Itga2	UTSW	13	114873330	missense	probably damaging	1.00
R9132:Itga2	UTSW	13	114877762	nonsense	probably null
R9153:Itga2	UTSW	13	114865405	missense	probably benign	0.00
R9159:Itga2	UTSW	13	114877762	nonsense	probably null
Z1088:Itga2	UTSW	13	114857332	missense	possibly damaging	0.46
Z1177:Itga2	UTSW	13	114853701	critical splice donor site	probably null

Posted On

2014-01-21