Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Itgb2'

4703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb2

Ensembl Gene

ENSMUSG00000000290

Gene Name

integrin beta 2

Synonyms

Mac-1 beta, Cd18, 2E6

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.442) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

77530252-77565708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77557406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 367 (V367A)

Ref Sequence

ENSEMBL: ENSMUSP00000000299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000299] [ENSMUST00000153541] [ENSMUST00000156644]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000299
AA Change: V367A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: V367A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	6.91e-7	SMART
INB	32	447	1.98e-268	SMART
VWA	126	357	1.25e-1	SMART
internal_repeat_1	459	509	7.99e-5	PROSPERO
EGF_like	535	574	6.81e1	SMART
Integrin_B_tail	622	701	5.53e-22	SMART
transmembrane domain	702	724	N/A	INTRINSIC
Integrin_b_cyt	725	770	1.58e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000153541
AA Change: V367A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: V367A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	6.91e-7	SMART
INB	32	447	1.98e-268	SMART
VWA	126	357	1.25e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156644

SMART Domains

Protein: ENSMUSP00000137865
Gene: ENSMUSG00000000290

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PDB:2P28\|A	23	49	9e-12	PDB
Blast:PSI	24	49	2e-11	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integrin beta chain, which combines with multiple different alpha chains to form different integrin heterodimers. Integrins are integral cell-surface proteins that participate in cell adhesion as well as cell-surface mediated signalling. The encoded protein plays an important role in immune response and defects in this gene cause leukocyte adhesion deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygotes for targeted null and hypomorphic mutations are subject to granulocytosis, impaired inflammatory and immune responses, and chronic dermatitis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Naprt	A	G	15: 75,893,315	Y187H	probably damaging	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Itgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Itgb2	APN	10	77557956	missense	probably benign	0.13
IGL00500:Itgb2	APN	10	77564724	missense	probably damaging	1.00
IGL01019:Itgb2	APN	10	77542403	missense	possibly damaging	0.94
IGL01104:Itgb2	APN	10	77547194	splice site	probably null
IGL01111:Itgb2	APN	10	77542000	missense	probably damaging	0.98
IGL01574:Itgb2	APN	10	77557964	missense	possibly damaging	0.82
IGL02087:Itgb2	APN	10	77559696	missense	possibly damaging	0.94
IGL02132:Itgb2	APN	10	77550061	missense	probably damaging	1.00
IGL02325:Itgb2	APN	10	77547192	missense	probably damaging	1.00
IGL02505:Itgb2	APN	10	77547218	missense	probably damaging	1.00
IGL02590:Itgb2	APN	10	77559513	missense	probably damaging	1.00
IGL02735:Itgb2	APN	10	77549999	missense	possibly damaging	0.81
almondine	UTSW	10	77548669	missense	probably damaging	1.00
barely	UTSW	10	77548536	splice site	probably benign
fresh	UTSW	10	77556161	missense	probably damaging	0.98
joker	UTSW	10	77549849	intron	probably benign
newhome	UTSW	10	77559681	missense	probably benign	0.00
nibbler	UTSW	10	77561216	critical splice donor site	probably null
Only_just	UTSW	10	77549968	missense	possibly damaging	0.80
salmonid	UTSW	10	77561112	missense	probably benign
trout	UTSW	10	77565188	missense	probably damaging	1.00
R0217:Itgb2	UTSW	10	77548536	splice site	probably benign
R0394:Itgb2	UTSW	10	77542475	missense	probably damaging	1.00
R0396:Itgb2	UTSW	10	77561189	missense	probably damaging	0.97
R1425:Itgb2	UTSW	10	77547296	missense	probably null	1.00
R1499:Itgb2	UTSW	10	77546153	missense	possibly damaging	0.62
R1542:Itgb2	UTSW	10	77559486	missense	probably benign
R1803:Itgb2	UTSW	10	77564790	missense	probably benign	0.15
R1889:Itgb2	UTSW	10	77548623	missense	possibly damaging	0.74
R2035:Itgb2	UTSW	10	77547199	missense	probably damaging	1.00
R2156:Itgb2	UTSW	10	77560248	missense	probably benign	0.01
R2374:Itgb2	UTSW	10	77559681	missense	probably benign	0.00
R3769:Itgb2	UTSW	10	77549968	missense	possibly damaging	0.80
R3942:Itgb2	UTSW	10	77558033	missense	probably benign	0.31
R4352:Itgb2	UTSW	10	77556167	missense	probably benign	0.10
R4537:Itgb2	UTSW	10	77561216	critical splice donor site	probably null
R4600:Itgb2	UTSW	10	77546115	missense	probably benign
R4611:Itgb2	UTSW	10	77550050	missense	probably damaging	1.00
R4685:Itgb2	UTSW	10	77550103	critical splice donor site	probably null
R4717:Itgb2	UTSW	10	77546044	nonsense	probably null
R5068:Itgb2	UTSW	10	77548761	missense	probably damaging	1.00
R5297:Itgb2	UTSW	10	77564667	missense	probably damaging	1.00
R5355:Itgb2	UTSW	10	77558052	missense	probably benign
R5927:Itgb2	UTSW	10	77546034	missense	probably damaging	1.00
R6371:Itgb2	UTSW	10	77548597	missense	probably damaging	1.00
R6505:Itgb2	UTSW	10	77559673	missense	probably damaging	1.00
R7305:Itgb2	UTSW	10	77548564	missense	probably damaging	1.00
R7574:Itgb2	UTSW	10	77560158	missense	probably benign	0.18
R7606:Itgb2	UTSW	10	77556161	missense	probably damaging	0.98
R7772:Itgb2	UTSW	10	77561112	missense	probably benign
R7888:Itgb2	UTSW	10	77564644	missense	probably benign	0.00
R8716:Itgb2	UTSW	10	77557953	missense	probably damaging	0.99
R8933:Itgb2	UTSW	10	77565188	missense	probably damaging	1.00
R9082:Itgb2	UTSW	10	77548669	missense	probably damaging	1.00
R9479:Itgb2	UTSW	10	77561108	missense	probably benign	0.01
Z1176:Itgb2	UTSW	10	77557962	missense	probably benign	0.01

Posted On

2012-04-20