Incidental Mutation 'IGL00332:Itgb2'
ID |
4703 |
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)
|
Stock # |
IGL00332
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 77393240 bp (GRCm39)
|
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: 97,083,737 (GRCm39) |
Y404H |
possibly damaging |
Het |
Adgrv1 |
T |
A |
13: 81,620,996 (GRCm39) |
|
probably benign |
Het |
Akap13 |
A |
G |
7: 75,378,667 (GRCm39) |
K2107E |
probably damaging |
Het |
Ankrd42 |
A |
G |
7: 92,233,662 (GRCm39) |
|
probably benign |
Het |
Apba3 |
C |
T |
10: 81,108,901 (GRCm39) |
P555S |
probably damaging |
Het |
Aplnr |
A |
G |
2: 84,967,985 (GRCm39) |
S337G |
probably benign |
Het |
Arhgef40 |
A |
G |
14: 52,226,417 (GRCm39) |
N154D |
probably damaging |
Het |
Asb14 |
A |
G |
14: 26,633,998 (GRCm39) |
K401R |
probably benign |
Het |
Aspn |
C |
A |
13: 49,719,968 (GRCm39) |
T328K |
probably benign |
Het |
Barhl2 |
C |
T |
5: 106,603,365 (GRCm39) |
A265T |
possibly damaging |
Het |
Brca2 |
T |
A |
5: 150,463,363 (GRCm39) |
H1042Q |
probably benign |
Het |
C3 |
A |
G |
17: 57,533,004 (GRCm39) |
L167P |
probably benign |
Het |
Ccdc33 |
A |
G |
9: 57,977,257 (GRCm39) |
|
probably benign |
Het |
Cdk10 |
T |
A |
8: 123,957,063 (GRCm39) |
M222K |
possibly damaging |
Het |
Cfap45 |
C |
T |
1: 172,362,912 (GRCm39) |
|
probably benign |
Het |
Chil3 |
T |
A |
3: 106,056,017 (GRCm39) |
N352I |
probably damaging |
Het |
Chn2 |
G |
T |
6: 54,272,907 (GRCm39) |
|
probably null |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Cpt1b |
T |
C |
15: 89,305,066 (GRCm39) |
E394G |
probably benign |
Het |
Fcgr2b |
T |
A |
1: 170,788,799 (GRCm39) |
N273I |
possibly damaging |
Het |
Fpr-rs7 |
G |
A |
17: 20,333,480 (GRCm39) |
Q337* |
probably null |
Het |
Fras1 |
T |
A |
5: 96,887,217 (GRCm39) |
N2666K |
possibly damaging |
Het |
Gfra3 |
C |
T |
18: 34,824,601 (GRCm39) |
|
probably null |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Gpr75 |
C |
T |
11: 30,841,590 (GRCm39) |
T165I |
probably damaging |
Het |
Gzmd |
A |
T |
14: 56,367,737 (GRCm39) |
C179S |
probably damaging |
Het |
Hand1 |
T |
G |
11: 57,722,575 (GRCm39) |
H13P |
probably damaging |
Het |
Irak3 |
C |
T |
10: 120,013,972 (GRCm39) |
|
probably null |
Het |
Isl2 |
T |
A |
9: 55,452,253 (GRCm39) |
L275Q |
possibly damaging |
Het |
Katna1 |
T |
C |
10: 7,638,758 (GRCm39) |
|
probably benign |
Het |
Myh6 |
A |
G |
14: 55,184,450 (GRCm39) |
M1627T |
probably benign |
Het |
Naprt |
A |
G |
15: 75,765,164 (GRCm39) |
Y187H |
probably damaging |
Het |
Nedd4 |
T |
A |
9: 72,642,371 (GRCm39) |
V550E |
probably damaging |
Het |
Nt5c2 |
A |
G |
19: 46,884,954 (GRCm39) |
V252A |
possibly damaging |
Het |
Or8k39 |
T |
C |
2: 86,563,579 (GRCm39) |
I126V |
possibly damaging |
Het |
Or9i16 |
C |
T |
19: 13,864,945 (GRCm39) |
V210I |
probably benign |
Het |
P2ry2 |
A |
G |
7: 100,647,393 (GRCm39) |
V304A |
probably damaging |
Het |
Pde4dip |
T |
C |
3: 97,674,593 (GRCm39) |
N108D |
probably benign |
Het |
Pdgfrl |
A |
G |
8: 41,438,660 (GRCm39) |
T199A |
probably damaging |
Het |
Plaa |
A |
G |
4: 94,470,844 (GRCm39) |
Y431H |
probably benign |
Het |
Pls1 |
A |
T |
9: 95,664,472 (GRCm39) |
I177N |
possibly damaging |
Het |
Plxna2 |
T |
C |
1: 194,472,138 (GRCm39) |
F1035L |
probably damaging |
Het |
Ppp6r3 |
A |
T |
19: 3,564,729 (GRCm39) |
|
probably null |
Het |
Prpf4b |
T |
C |
13: 35,067,890 (GRCm39) |
S240P |
probably benign |
Het |
Reg2 |
T |
A |
6: 78,383,204 (GRCm39) |
Y50* |
probably null |
Het |
Rev3l |
C |
T |
10: 39,682,965 (GRCm39) |
T361I |
probably benign |
Het |
Rps4l |
A |
G |
6: 148,256,383 (GRCm39) |
|
probably benign |
Het |
Scn11a |
A |
T |
9: 119,598,982 (GRCm39) |
F1183I |
probably damaging |
Het |
Sh2b2 |
T |
C |
5: 136,253,273 (GRCm39) |
E327G |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,965,584 (GRCm39) |
K1057R |
probably damaging |
Het |
Sim2 |
T |
A |
16: 93,915,803 (GRCm39) |
Y255* |
probably null |
Het |
Snx9 |
A |
G |
17: 5,949,636 (GRCm39) |
N112S |
probably benign |
Het |
Sphkap |
T |
A |
1: 83,258,237 (GRCm39) |
I169F |
probably damaging |
Het |
Spink5 |
A |
G |
18: 44,100,111 (GRCm39) |
T43A |
probably benign |
Het |
Stac2 |
C |
T |
11: 97,932,005 (GRCm39) |
S265N |
probably benign |
Het |
Tbx20 |
A |
G |
9: 24,670,044 (GRCm39) |
V91A |
probably damaging |
Het |
Tgfbr2 |
C |
T |
9: 115,939,257 (GRCm39) |
R190H |
probably damaging |
Het |
Ubr2 |
A |
G |
17: 47,301,916 (GRCm39) |
|
probably null |
Het |
Wdfy3 |
C |
T |
5: 102,063,204 (GRCm39) |
|
probably null |
Het |
Wdr82 |
T |
C |
9: 106,061,449 (GRCm39) |
V166A |
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,307,401 (GRCm39) |
A209V |
probably damaging |
Het |
Zfp518b |
T |
A |
5: 38,831,109 (GRCm39) |
T299S |
possibly damaging |
Het |
|
Other mutations in Itgb2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02087:Itgb2
|
APN |
10 |
77,395,530 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2012-04-20 |