Incidental Mutation 'R9082:Itgb2'
| ID |
690085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
068901-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R9082 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77384503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 208
(L208P)
|
| 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 |
probably damaging
Transcript: ENSMUST00000000299
AA Change: L208P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: L208P
| 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: ENSMUST00000130059
AA Change: L130P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290
AA Change: L130P
| 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: L208P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: L208P
| 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 |
|
| Meta Mutation Damage Score |
0.9604 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (55/55) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
G |
T |
5: 90,698,095 (GRCm39) |
C499F |
probably damaging |
Het |
| Agap2 |
A |
G |
10: 126,918,911 (GRCm39) |
E429G |
probably damaging |
Het |
| Ankrd22 |
A |
T |
19: 34,126,662 (GRCm39) |
V56D |
probably damaging |
Het |
| Apol11b |
C |
T |
15: 77,524,771 (GRCm39) |
E5K |
possibly damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,099,874 (GRCm39) |
S408L |
unknown |
Het |
| Cdk4 |
T |
A |
10: 126,900,732 (GRCm39) |
L128Q |
probably damaging |
Het |
| Clu |
T |
C |
14: 66,217,153 (GRCm39) |
S329P |
probably damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,637,335 (GRCm39) |
N1071D |
probably damaging |
Het |
| Col5a1 |
T |
C |
2: 27,852,122 (GRCm39) |
S540P |
possibly damaging |
Het |
| Cpne2 |
A |
C |
8: 95,295,237 (GRCm39) |
I441L |
probably benign |
Het |
| Ctu2 |
T |
C |
8: 123,203,952 (GRCm39) |
S87P |
probably damaging |
Het |
| Dhodh |
G |
T |
8: 110,322,734 (GRCm39) |
N211K |
probably damaging |
Het |
| Dtnb |
G |
A |
12: 3,822,740 (GRCm39) |
A570T |
possibly damaging |
Het |
| Eif3m |
A |
T |
2: 104,836,217 (GRCm39) |
V209E |
probably damaging |
Het |
| Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,720,010 (GRCm39) |
V8A |
unknown |
Het |
| Ftdc1 |
T |
C |
16: 58,437,294 (GRCm39) |
R5G |
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,307,559 (GRCm39) |
S55R |
probably benign |
Het |
| Gm11011 |
G |
T |
2: 169,426,424 (GRCm39) |
P63Q |
|
Het |
| Grk5 |
T |
C |
19: 61,034,567 (GRCm39) |
I105T |
possibly damaging |
Het |
| Gskip |
G |
A |
12: 105,665,009 (GRCm39) |
S16N |
probably benign |
Het |
| Gys1 |
C |
A |
7: 45,088,917 (GRCm39) |
N169K |
probably benign |
Het |
| Kcnh7 |
A |
G |
2: 62,607,878 (GRCm39) |
C568R |
probably damaging |
Het |
| Krt84 |
C |
T |
15: 101,440,814 (GRCm39) |
G126D |
unknown |
Het |
| Lrrc26 |
T |
A |
2: 25,180,344 (GRCm39) |
F115Y |
probably damaging |
Het |
| Mul1 |
T |
C |
4: 138,166,945 (GRCm39) |
I338T |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,412,660 (GRCm39) |
L716H |
probably damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,346,106 (GRCm39) |
V414I |
probably benign |
Het |
| Negr1 |
C |
A |
3: 156,774,876 (GRCm39) |
C197* |
probably null |
Het |
| Nisch |
G |
T |
14: 30,899,331 (GRCm39) |
A438E |
unknown |
Het |
| Nsun5 |
T |
C |
5: 135,402,828 (GRCm39) |
L174P |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,903,612 (GRCm39) |
V7454E |
probably benign |
Het |
| Optn |
A |
C |
2: 5,059,451 (GRCm39) |
N22K |
probably damaging |
Het |
| Or5k15 |
C |
T |
16: 58,709,834 (GRCm39) |
V250M |
probably damaging |
Het |
| Or6d13 |
G |
A |
6: 116,517,969 (GRCm39) |
C185Y |
probably damaging |
Het |
| Pcdhb22 |
A |
G |
18: 37,653,047 (GRCm39) |
N248S |
probably damaging |
Het |
| Pcnx2 |
A |
C |
8: 126,613,753 (GRCm39) |
L566R |
probably damaging |
Het |
| Pdlim5 |
C |
T |
3: 142,009,163 (GRCm39) |
V191I |
possibly damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,146,094 (GRCm39) |
|
probably null |
Het |
| Peak1 |
A |
T |
9: 56,165,504 (GRCm39) |
I808N |
probably benign |
Het |
| Pomt1 |
A |
C |
2: 32,142,973 (GRCm39) |
Y617S |
probably damaging |
Het |
| Ptch2 |
G |
A |
4: 116,962,297 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
G |
3: 93,302,928 (GRCm39) |
H87R |
possibly damaging |
Het |
| Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
| Slc37a4 |
A |
G |
9: 44,313,016 (GRCm39) |
T333A |
probably benign |
Het |
| Slc5a7 |
A |
G |
17: 54,604,139 (GRCm39) |
V9A |
probably benign |
Het |
| Slc6a20a |
A |
G |
9: 123,507,832 (GRCm39) |
F14L |
possibly damaging |
Het |
| Smg7 |
A |
T |
1: 152,715,928 (GRCm39) |
M1062K |
probably damaging |
Het |
| Tsc22d4 |
T |
C |
5: 137,749,509 (GRCm39) |
Y262H |
probably damaging |
Het |
| Vmn2r83 |
C |
T |
10: 79,304,894 (GRCm39) |
H35Y |
probably benign |
Het |
| Zc3h13 |
CAGAGACCGGGACAGAAGGAGAGAC |
CAGAGAC |
14: 75,569,381 (GRCm39) |
|
probably benign |
Het |
| Zeb1 |
C |
T |
18: 5,772,557 (GRCm39) |
H949Y |
probably damaging |
Het |
| Zfp184 |
T |
A |
13: 22,143,636 (GRCm39) |
H447Q |
probably damaging |
Het |
| Zfp551 |
T |
C |
7: 12,151,004 (GRCm39) |
E135G |
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 |
|
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 |
|
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'- GTATATCCCTTGGACTCCAGGTC -3'
(R):5'- CAGATGGGGTGAGTGTCTGAAC -3'
Sequencing Primer
(F):5'- TGGACTCCAGGTCTTCCCAG -3'
(R):5'- ACCACGGCACTGGTGAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation