Incidental Mutation 'IGL00427:Itgb2'
| ID |
4702 |
| 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 essential
(E-score: 0.537)
|
| Stock # |
IGL00427
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 77393790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 410
(T410I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000299
AA Change: T410I
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: T410I
| 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
AA Change: T410I
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: T410I
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy3 |
A |
G |
12: 4,244,357 (GRCm39) |
D289G |
probably damaging |
Het |
| Adnp |
C |
T |
2: 168,024,482 (GRCm39) |
D938N |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,577,423 (GRCm39) |
N208I |
probably benign |
Het |
| Cby3 |
A |
G |
11: 50,248,638 (GRCm39) |
|
probably benign |
Het |
| Cmklr2 |
A |
T |
1: 63,222,497 (GRCm39) |
I246N |
probably damaging |
Het |
| Cnih4 |
T |
A |
1: 180,981,312 (GRCm39) |
S28T |
probably damaging |
Het |
| D130052B06Rik |
G |
T |
11: 33,573,558 (GRCm39) |
V97L |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,407,631 (GRCm39) |
E2067G |
probably damaging |
Het |
| Dennd6a |
C |
T |
14: 26,329,768 (GRCm39) |
T113I |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,882,305 (GRCm39) |
F1590L |
possibly damaging |
Het |
| Dop1a |
G |
T |
9: 86,403,553 (GRCm39) |
Q1582H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,403,552 (GRCm39) |
Q1582L |
probably damaging |
Het |
| Dop1a |
C |
A |
9: 86,403,551 (GRCm39) |
Q1582K |
possibly damaging |
Het |
| Ebna1bp2 |
A |
T |
4: 118,483,018 (GRCm39) |
K291M |
probably damaging |
Het |
| Evpl |
G |
T |
11: 116,125,331 (GRCm39) |
Q73K |
probably benign |
Het |
| Fam131b |
G |
T |
6: 42,295,895 (GRCm39) |
T139K |
probably damaging |
Het |
| Golga3 |
A |
G |
5: 110,368,753 (GRCm39) |
T1358A |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,783,484 (GRCm39) |
D265N |
probably benign |
Het |
| Homer1 |
A |
G |
13: 93,538,622 (GRCm39) |
N333S |
probably benign |
Het |
| Igkv17-134 |
A |
T |
6: 67,697,968 (GRCm39) |
|
probably benign |
Het |
| Il16 |
T |
C |
7: 83,301,666 (GRCm39) |
D152G |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,806,766 (GRCm39) |
|
probably benign |
Het |
| Kctd14 |
C |
A |
7: 97,106,919 (GRCm39) |
A111E |
possibly damaging |
Het |
| Lmod3 |
A |
C |
6: 97,229,258 (GRCm39) |
V92G |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,070,973 (GRCm39) |
D83G |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,111,691 (GRCm39) |
E1682G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,750,342 (GRCm39) |
|
probably benign |
Het |
| Nlrc4 |
T |
C |
17: 74,754,087 (GRCm39) |
N99D |
probably benign |
Het |
| P2rx3 |
A |
G |
2: 84,865,616 (GRCm39) |
Y10H |
probably damaging |
Het |
| Pcsk7 |
C |
A |
9: 45,838,958 (GRCm39) |
D623E |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,297,980 (GRCm39) |
I1766T |
probably damaging |
Het |
| Ptk7 |
T |
C |
17: 46,885,353 (GRCm39) |
Y691C |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,856,108 (GRCm39) |
T17S |
probably damaging |
Het |
| Rtraf-ps |
A |
C |
3: 88,484,230 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,804,162 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
T |
G |
9: 75,570,519 (GRCm39) |
K345T |
probably damaging |
Het |
| Serpina3b |
A |
T |
12: 104,099,200 (GRCm39) |
K238N |
probably benign |
Het |
| Slc38a9 |
T |
A |
13: 112,838,152 (GRCm39) |
S306T |
probably damaging |
Het |
| Txndc16 |
A |
G |
14: 45,382,547 (GRCm39) |
|
probably benign |
Het |
| Vmn1r238 |
T |
A |
18: 3,123,243 (GRCm39) |
Y57F |
probably benign |
Het |
| Vmn2r104 |
A |
T |
17: 20,258,501 (GRCm39) |
S548T |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,247,309 (GRCm39) |
|
probably null |
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 |
|
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 |
Incidental Mutation