Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02087:Itgb2'

279289

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Itgb2

Ensembl Gene

ENSMUSG00000000290

Gene Name

integrin beta 2

Synonyms

Mac-1 beta, 2E6, Cd18

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.477) question?

Stock #

IGL02087

Quality Score

Status

Chromosome

Chromosomal Location

77366164-77401542 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 77395530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 544 (Y544D)

Ref Sequence

ENSEMBL: ENSMUSP00000000299 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000299
AA Change: Y544D

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: Y544D

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 benign
Transcript: ENSMUST00000153541

SMART Domains

Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asl	C	T	5: 130,040,442 (GRCm39)	W450*	probably null	Het
Copg1	T	C	6: 87,879,192 (GRCm39)	Y413H	possibly damaging	Het
Ctsll3	G	T	13: 60,947,423 (GRCm39)	H254Q	possibly damaging	Het
Ebf2	A	G	14: 67,665,545 (GRCm39)	T568A	probably benign	Het
Etnppl	C	A	3: 130,420,194 (GRCm39)	S8R	probably benign	Het
Fry	C	A	5: 150,327,059 (GRCm39)	N1248K	probably benign	Het
Gpr55	A	C	1: 85,868,969 (GRCm39)	I204S	probably damaging	Het
Hyal5	T	A	6: 24,876,724 (GRCm39)	M199K	probably damaging	Het
Ighg2c	T	C	12: 113,248,986 (GRCm39)		probably benign	Het
Itga4	A	G	2: 79,122,413 (GRCm39)	D542G	probably damaging	Het
Lamb2	A	G	9: 108,364,318 (GRCm39)	N1086D	possibly damaging	Het
Lhx2	C	T	2: 38,258,849 (GRCm39)		probably benign	Het
Nlrp4c	T	G	7: 6,095,582 (GRCm39)	L820R	probably damaging	Het
Or5p68	T	A	7: 107,946,173 (GRCm39)	H5L	probably benign	Het
Phf20l1	C	T	15: 66,500,840 (GRCm39)	S578F	probably damaging	Het
Pramel23	A	T	4: 143,423,644 (GRCm39)	Y382N	probably damaging	Het
Ptpn3	A	T	4: 57,222,019 (GRCm39)	D557E	probably damaging	Het
Slc6a6	G	A	6: 91,712,160 (GRCm39)	V230I	probably benign	Het
Stap2	T	C	17: 56,312,473 (GRCm39)	H20R	probably damaging	Het
Sult1c2	T	C	17: 54,279,068 (GRCm39)	T83A	possibly damaging	Het
Tspyl2	A	T	X: 151,122,103 (GRCm39)	D501E	probably damaging	Het
Unc13b	A	G	4: 43,091,270 (GRCm39)	K32R	probably null	Het
Wnt3	G	A	11: 103,703,185 (GRCm39)	A223T	probably benign	Het
Zfpm2	A	T	15: 40,966,517 (GRCm39)	N869Y	probably damaging	Het
Zranb1	T	C	7: 132,575,146 (GRCm39)		probably benign	Het

Other mutations in Itgb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Itgb2	APN	10	77,393,240 (GRCm39)	missense	probably damaging	1.00
IGL00427:Itgb2	APN	10	77,393,790 (GRCm39)	missense	probably benign	0.13
IGL00500:Itgb2	APN	10	77,400,558 (GRCm39)	missense	probably damaging	1.00
IGL01019:Itgb2	APN	10	77,378,237 (GRCm39)	missense	possibly damaging	0.94
IGL01104:Itgb2	APN	10	77,383,028 (GRCm39)	splice site	probably null
IGL01111:Itgb2	APN	10	77,377,834 (GRCm39)	missense	probably damaging	0.98
IGL01574:Itgb2	APN	10	77,393,798 (GRCm39)	missense	possibly damaging	0.82
IGL02132:Itgb2	APN	10	77,385,895 (GRCm39)	missense	probably damaging	1.00
IGL02325:Itgb2	APN	10	77,383,026 (GRCm39)	missense	probably damaging	1.00
IGL02505:Itgb2	APN	10	77,383,052 (GRCm39)	missense	probably damaging	1.00
IGL02590:Itgb2	APN	10	77,395,347 (GRCm39)	missense	probably damaging	1.00
IGL02735:Itgb2	APN	10	77,385,833 (GRCm39)	missense	possibly damaging	0.81
almondine	UTSW	10	77,384,503 (GRCm39)	missense	probably damaging	1.00
barely	UTSW	10	77,384,370 (GRCm39)	splice site	probably benign
fresh	UTSW	10	77,391,995 (GRCm39)	missense	probably damaging	0.98
joker	UTSW	10	77,549,849 (GRCm38)	intron	probably benign
newhome	UTSW	10	77,395,515 (GRCm39)	missense	probably benign	0.00
nibbler	UTSW	10	77,397,050 (GRCm39)	critical splice donor site	probably null
Only_just	UTSW	10	77,385,802 (GRCm39)	missense	possibly damaging	0.80
salmonid	UTSW	10	77,396,946 (GRCm39)	missense	probably benign
trout	UTSW	10	77,401,022 (GRCm39)	missense	probably damaging	1.00
R0217:Itgb2	UTSW	10	77,384,370 (GRCm39)	splice site	probably benign
R0394:Itgb2	UTSW	10	77,378,309 (GRCm39)	missense	probably damaging	1.00
R0396:Itgb2	UTSW	10	77,397,023 (GRCm39)	missense	probably damaging	0.97
R1425:Itgb2	UTSW	10	77,383,130 (GRCm39)	missense	probably null	1.00
R1499:Itgb2	UTSW	10	77,381,987 (GRCm39)	missense	possibly damaging	0.62
R1542:Itgb2	UTSW	10	77,395,320 (GRCm39)	missense	probably benign
R1803:Itgb2	UTSW	10	77,400,624 (GRCm39)	missense	probably benign	0.15
R1889:Itgb2	UTSW	10	77,384,457 (GRCm39)	missense	possibly damaging	0.74
R2035:Itgb2	UTSW	10	77,383,033 (GRCm39)	missense	probably damaging	1.00
R2156:Itgb2	UTSW	10	77,396,082 (GRCm39)	missense	probably benign	0.01
R2374:Itgb2	UTSW	10	77,395,515 (GRCm39)	missense	probably benign	0.00
R3769:Itgb2	UTSW	10	77,385,802 (GRCm39)	missense	possibly damaging	0.80
R3942:Itgb2	UTSW	10	77,393,867 (GRCm39)	missense	probably benign	0.31
R4352:Itgb2	UTSW	10	77,392,001 (GRCm39)	missense	probably benign	0.10
R4537:Itgb2	UTSW	10	77,397,050 (GRCm39)	critical splice donor site	probably null
R4600:Itgb2	UTSW	10	77,381,949 (GRCm39)	missense	probably benign
R4611:Itgb2	UTSW	10	77,385,884 (GRCm39)	missense	probably damaging	1.00
R4685:Itgb2	UTSW	10	77,385,937 (GRCm39)	critical splice donor site	probably null
R4717:Itgb2	UTSW	10	77,381,878 (GRCm39)	nonsense	probably null
R5068:Itgb2	UTSW	10	77,384,595 (GRCm39)	missense	probably damaging	1.00
R5297:Itgb2	UTSW	10	77,400,501 (GRCm39)	missense	probably damaging	1.00
R5355:Itgb2	UTSW	10	77,393,886 (GRCm39)	missense	probably benign
R5927:Itgb2	UTSW	10	77,381,868 (GRCm39)	missense	probably damaging	1.00
R6371:Itgb2	UTSW	10	77,384,431 (GRCm39)	missense	probably damaging	1.00
R6505:Itgb2	UTSW	10	77,395,507 (GRCm39)	missense	probably damaging	1.00
R7305:Itgb2	UTSW	10	77,384,398 (GRCm39)	missense	probably damaging	1.00
R7574:Itgb2	UTSW	10	77,395,992 (GRCm39)	missense	probably benign	0.18
R7606:Itgb2	UTSW	10	77,391,995 (GRCm39)	missense	probably damaging	0.98
R7772:Itgb2	UTSW	10	77,396,946 (GRCm39)	missense	probably benign
R7888:Itgb2	UTSW	10	77,400,478 (GRCm39)	missense	probably benign	0.00
R8716:Itgb2	UTSW	10	77,393,787 (GRCm39)	missense	probably damaging	0.99
R8933:Itgb2	UTSW	10	77,401,022 (GRCm39)	missense	probably damaging	1.00
R9082:Itgb2	UTSW	10	77,384,503 (GRCm39)	missense	probably damaging	1.00
R9479:Itgb2	UTSW	10	77,396,942 (GRCm39)	missense	probably benign	0.01
Z1176:Itgb2	UTSW	10	77,393,796 (GRCm39)	missense	probably benign	0.01

Posted On

2015-04-16