Incidental Mutation 'IGL01019:Itgb2'
| ID |
53836 |
| 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 # |
IGL01019
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77378237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 22
(S22P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000130059]
[ENSMUST00000131023]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000299
AA Change: S22P
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: S22P
| 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: ENSMUST00000130059
|
| SMART Domains |
Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290
| Domain | Start | End | E-Value | Type |
|---|
|
INB
|
1 |
130 |
2.21e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131023
|
| SMART Domains |
Protein: ENSMUSP00000119657
Gene: ENSMUSG00000000290
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_beta
|
2 |
54 |
7.1e-15 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000153541
AA Change: S22P
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: S22P
| 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 |
unknown
Transcript: ENSMUST00000156644
AA Change: S22P
|
| SMART Domains |
Protein: ENSMUSP00000137865
Gene: ENSMUSG00000000290
AA Change: S22P
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
| Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
| Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
| B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
| Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
| Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
| Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
| Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
| Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
| Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
| Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
| Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
| Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
| Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
| Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
| Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
| Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
| Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
| Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
| Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
| Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
| Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
| Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
| Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
| Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
| Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
| Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
| Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
| Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
| Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
| Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
| Serpinf2 |
T |
A |
11: 75,327,333 (GRCm39) |
E198V |
possibly damaging |
Het |
| Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
| Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
| Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
| Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
| Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
| Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
| Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
| Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably damaging |
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 |
|
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 |
2013-06-28 |
Incidental Mutation