Incidental Mutation 'R0394:Itgb2'
ID |
31872 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb2
|
Ensembl Gene |
ENSMUSG00000000290 |
Gene Name |
integrin beta 2 |
Synonyms |
Mac-1 beta, 2E6, Cd18 |
MMRRC Submission |
038600-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R0394 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77378309 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 46
(C46S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000130059]
[ENSMUST00000131023]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000299
AA Change: C46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000299 Gene: ENSMUSG00000000290 AA Change: C46S
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 |
probably damaging
Transcript: ENSMUST00000153541
AA Change: C46S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000137734 Gene: ENSMUSG00000000290 AA Change: C46S
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: C46S
|
SMART Domains |
Protein: ENSMUSP00000137865 Gene: ENSMUSG00000000290 AA Change: C46S
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 |
|
Meta Mutation Damage Score |
0.9506 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
99% (79/80) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
C |
A |
3: 137,773,065 (GRCm39) |
S751R |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,917,169 (GRCm39) |
V1610A |
probably damaging |
Het |
Actl10 |
A |
T |
2: 154,394,957 (GRCm39) |
H202L |
probably benign |
Het |
Alox12 |
A |
T |
11: 70,136,761 (GRCm39) |
V489E |
probably damaging |
Het |
Ap4m1 |
T |
A |
5: 138,170,465 (GRCm39) |
F5I |
probably benign |
Het |
Atn1 |
T |
C |
6: 124,726,696 (GRCm39) |
|
probably benign |
Het |
Atrnl1 |
T |
A |
19: 57,661,608 (GRCm39) |
N529K |
probably benign |
Het |
B3gntl1 |
C |
T |
11: 121,510,541 (GRCm39) |
G336D |
probably damaging |
Het |
Bmp1 |
G |
A |
14: 70,727,474 (GRCm39) |
A703V |
probably damaging |
Het |
Brat1 |
T |
G |
5: 140,704,141 (GRCm39) |
L798R |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,602,458 (GRCm39) |
G1302R |
probably damaging |
Het |
Cdr2 |
A |
T |
7: 120,557,954 (GRCm39) |
D190E |
probably benign |
Het |
Cenpe |
T |
C |
3: 134,922,186 (GRCm39) |
|
probably benign |
Het |
Clstn1 |
A |
G |
4: 149,728,635 (GRCm39) |
D687G |
probably benign |
Het |
Coro1a |
A |
G |
7: 126,299,812 (GRCm39) |
F337L |
probably benign |
Het |
Ddx49 |
T |
A |
8: 70,749,575 (GRCm39) |
I252F |
probably damaging |
Het |
Dennd2a |
T |
A |
6: 39,499,746 (GRCm39) |
D273V |
possibly damaging |
Het |
Derl2 |
A |
T |
11: 70,905,387 (GRCm39) |
F32I |
probably benign |
Het |
Dmrta1 |
A |
G |
4: 89,580,276 (GRCm39) |
Y412C |
probably damaging |
Het |
Dsg1a |
A |
G |
18: 20,466,807 (GRCm39) |
N559S |
probably damaging |
Het |
Dusp26 |
G |
T |
8: 31,581,987 (GRCm39) |
R27L |
probably benign |
Het |
Eif2ak3 |
T |
C |
6: 70,862,202 (GRCm39) |
I492T |
probably benign |
Het |
Exoc7 |
G |
T |
11: 116,191,224 (GRCm39) |
Q219K |
probably damaging |
Het |
F2r |
T |
C |
13: 95,740,984 (GRCm39) |
T184A |
probably damaging |
Het |
Fbf1 |
G |
A |
11: 116,043,288 (GRCm39) |
|
probably benign |
Het |
Fbxo28 |
A |
G |
1: 182,144,580 (GRCm39) |
M328T |
probably benign |
Het |
Fsip2 |
T |
A |
2: 82,821,419 (GRCm39) |
D5717E |
possibly damaging |
Het |
Gnpat |
C |
A |
8: 125,606,964 (GRCm39) |
S373R |
possibly damaging |
Het |
Golgb1 |
G |
T |
16: 36,695,941 (GRCm39) |
|
probably benign |
Het |
Greb1l |
T |
C |
18: 10,523,374 (GRCm39) |
V844A |
probably damaging |
Het |
Hps1 |
G |
T |
19: 42,759,338 (GRCm39) |
|
probably null |
Het |
Inppl1 |
G |
T |
7: 101,477,402 (GRCm39) |
|
probably benign |
Het |
Isca1 |
C |
T |
13: 59,906,699 (GRCm39) |
|
probably null |
Het |
Kifc5b |
C |
T |
17: 27,142,056 (GRCm39) |
T178M |
probably benign |
Het |
Krt80 |
T |
C |
15: 101,250,180 (GRCm39) |
T22A |
probably damaging |
Het |
L3mbtl2 |
C |
T |
15: 81,552,942 (GRCm39) |
A125V |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,853,198 (GRCm39) |
|
probably benign |
Het |
Mettl18 |
A |
G |
1: 163,823,910 (GRCm39) |
D77G |
probably benign |
Het |
Mfsd2a |
A |
G |
4: 122,843,961 (GRCm39) |
L336P |
probably benign |
Het |
Mgat4b |
A |
G |
11: 50,121,746 (GRCm39) |
|
probably null |
Het |
Mtmr14 |
C |
T |
6: 113,257,649 (GRCm39) |
R233* |
probably null |
Het |
Nbea |
T |
C |
3: 55,937,328 (GRCm39) |
Y761C |
probably damaging |
Het |
Neb |
A |
T |
2: 52,067,571 (GRCm39) |
|
probably null |
Het |
Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
Obi1 |
T |
C |
14: 104,716,289 (GRCm39) |
R695G |
possibly damaging |
Het |
Or6c70 |
T |
A |
10: 129,709,811 (GRCm39) |
I272L |
probably benign |
Het |
Oxr1 |
T |
A |
15: 41,680,593 (GRCm39) |
M177K |
probably damaging |
Het |
Pgm2l1 |
A |
G |
7: 99,901,405 (GRCm39) |
Y98C |
probably damaging |
Het |
Pi4kb |
G |
T |
3: 94,904,115 (GRCm39) |
|
probably benign |
Het |
Pi4kb |
G |
A |
3: 94,904,116 (GRCm39) |
|
probably benign |
Het |
Pirb |
T |
A |
7: 3,722,247 (GRCm39) |
S199C |
probably benign |
Het |
Prss23 |
A |
C |
7: 89,159,055 (GRCm39) |
I338S |
probably damaging |
Het |
Rapgef3 |
A |
T |
15: 97,655,700 (GRCm39) |
|
probably benign |
Het |
Rdh7 |
T |
A |
10: 127,720,539 (GRCm39) |
T278S |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,277,538 (GRCm39) |
D606G |
probably benign |
Het |
Rxfp1 |
T |
A |
3: 79,559,684 (GRCm39) |
Y379F |
possibly damaging |
Het |
Rxfp2 |
T |
C |
5: 149,990,853 (GRCm39) |
V514A |
probably benign |
Het |
Scel |
A |
T |
14: 103,799,954 (GRCm39) |
E202V |
probably benign |
Het |
Slc25a36 |
G |
A |
9: 96,962,257 (GRCm39) |
A244V |
probably benign |
Het |
Slc2a13 |
T |
G |
15: 91,400,595 (GRCm39) |
Q209P |
probably damaging |
Het |
Slc38a6 |
A |
G |
12: 73,399,304 (GRCm39) |
N456S |
probably benign |
Het |
Slc6a12 |
G |
T |
6: 121,323,957 (GRCm39) |
|
probably null |
Het |
Spag6l |
T |
C |
16: 16,598,493 (GRCm39) |
I333V |
probably benign |
Het |
Spen |
G |
A |
4: 141,201,514 (GRCm39) |
A2371V |
probably benign |
Het |
St6galnac1 |
T |
C |
11: 116,657,466 (GRCm39) |
D366G |
probably damaging |
Het |
Stk33 |
T |
C |
7: 108,940,696 (GRCm39) |
S5G |
probably benign |
Het |
Tex56 |
T |
C |
13: 35,116,636 (GRCm39) |
|
probably benign |
Het |
Tle2 |
T |
C |
10: 81,413,482 (GRCm39) |
L84P |
probably damaging |
Het |
Tmem14a |
T |
C |
1: 21,296,876 (GRCm39) |
M78T |
probably damaging |
Het |
Top2b |
T |
A |
14: 16,413,556 (GRCm38) |
|
probably null |
Het |
Trmt13 |
A |
G |
3: 116,376,299 (GRCm39) |
F364S |
probably damaging |
Het |
Unkl |
T |
A |
17: 25,449,751 (GRCm39) |
|
probably null |
Het |
Uvrag |
A |
G |
7: 98,653,926 (GRCm39) |
|
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,949,938 (GRCm39) |
N303I |
probably benign |
Het |
Vsig10l |
A |
G |
7: 43,114,879 (GRCm39) |
N360S |
probably damaging |
Het |
Zdhhc25 |
T |
C |
15: 88,485,123 (GRCm39) |
Y153H |
probably damaging |
Het |
Zfp646 |
T |
C |
7: 127,482,434 (GRCm39) |
V1537A |
possibly damaging |
Het |
Zfp664 |
T |
A |
5: 124,963,129 (GRCm39) |
Y174* |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGTCTCAGGCATGGATGATGGC -3'
(R):5'- TCGTGAAATGTGACTGTCCCTCCC -3'
Sequencing Primer
(F):5'- AATTCCATTGGGGTGACTCAGAG -3'
(R):5'- CCTATGTACCTGGGGTCAAC -3'
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Posted On |
2013-04-24 |