Incidental Mutation 'R4685:Itgb2'
| ID |
353616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
041936-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R4685 (G1)
|
| Quality Score |
205 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 77385937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000000299
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
| 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 benign
Transcript: ENSMUST00000153541
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
| 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 |
0.9482 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
97% (71/73) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,057,185 (GRCm39) |
D104G |
probably damaging |
Het |
| 2810021J22Rik |
T |
C |
11: 58,771,750 (GRCm39) |
S411P |
probably damaging |
Het |
| Adcy2 |
T |
C |
13: 68,876,024 (GRCm39) |
R493G |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,609,287 (GRCm39) |
I874T |
probably benign |
Het |
| Ano2 |
G |
T |
6: 125,957,087 (GRCm39) |
E619* |
probably null |
Het |
| Apob |
A |
G |
12: 8,056,456 (GRCm39) |
K1613R |
probably benign |
Het |
| Arhgef10 |
T |
A |
8: 15,006,963 (GRCm39) |
F476Y |
probably damaging |
Het |
| Bmf |
G |
A |
2: 118,377,283 (GRCm39) |
A74V |
probably damaging |
Het |
| Cadps |
T |
C |
14: 12,467,139 (GRCm38) |
E925G |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,557,682 (GRCm39) |
D181G |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,173,434 (GRCm39) |
C387S |
probably benign |
Het |
| Cntnap5a |
T |
C |
1: 116,374,410 (GRCm39) |
V974A |
possibly damaging |
Het |
| Cplx3 |
T |
A |
9: 57,516,483 (GRCm39) |
I407F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,250,488 (GRCm39) |
F1703S |
probably damaging |
Het |
| Dsg3 |
C |
A |
18: 20,672,793 (GRCm39) |
D821E |
probably benign |
Het |
| Ecel1 |
G |
T |
1: 87,080,668 (GRCm39) |
|
probably null |
Het |
| Edn1 |
A |
T |
13: 42,458,729 (GRCm39) |
|
probably null |
Het |
| Egfr |
G |
A |
11: 16,808,980 (GRCm39) |
C58Y |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,574,596 (GRCm39) |
N282D |
probably benign |
Het |
| Fhit |
T |
A |
14: 9,870,091 (GRCm38) |
Q63L |
probably damaging |
Het |
| Gabarapl2 |
T |
C |
8: 112,669,150 (GRCm39) |
V36A |
probably benign |
Het |
| Glis1 |
T |
C |
4: 107,424,842 (GRCm39) |
V151A |
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,650,217 (GRCm39) |
S210P |
probably damaging |
Het |
| Gpat4 |
TAGAAGA |
TAGA |
8: 23,672,865 (GRCm39) |
|
probably benign |
Het |
| H2-M10.4 |
G |
A |
17: 36,772,688 (GRCm39) |
A98V |
probably benign |
Het |
| Hhat |
C |
A |
1: 192,277,362 (GRCm39) |
G366C |
probably damaging |
Het |
| Hydin |
C |
A |
8: 111,189,154 (GRCm39) |
A1186E |
probably damaging |
Het |
| Kank1 |
C |
T |
19: 25,387,398 (GRCm39) |
A329V |
possibly damaging |
Het |
| Kdm4b |
T |
A |
17: 56,708,675 (GRCm39) |
S1070T |
probably benign |
Het |
| Kyat1 |
A |
G |
2: 30,078,277 (GRCm39) |
Y101H |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,858,140 (GRCm39) |
K679R |
probably benign |
Het |
| Mill1 |
A |
T |
7: 17,989,853 (GRCm39) |
D45V |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,412,233 (GRCm39) |
Y743N |
probably damaging |
Het |
| Nox4 |
C |
G |
7: 86,946,716 (GRCm39) |
I137M |
probably benign |
Het |
| Odf4 |
A |
G |
11: 68,813,665 (GRCm39) |
|
probably null |
Het |
| Ostf1 |
A |
T |
19: 18,558,652 (GRCm39) |
D210E |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,675 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,578 (GRCm39) |
T211A |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,496 (GRCm39) |
S393P |
probably damaging |
Het |
| Plppr3 |
T |
C |
10: 79,703,359 (GRCm39) |
T42A |
probably damaging |
Het |
| Plxna4 |
C |
A |
6: 32,142,779 (GRCm39) |
G1559W |
probably damaging |
Het |
| Ppp1r13l |
T |
C |
7: 19,109,308 (GRCm39) |
|
probably null |
Het |
| Prex1 |
C |
T |
2: 166,480,252 (GRCm39) |
V163M |
probably damaging |
Het |
| Prl6a1 |
A |
G |
13: 27,500,307 (GRCm39) |
T93A |
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,824,459 (GRCm39) |
V81A |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,613,280 (GRCm39) |
|
probably benign |
Het |
| Rest |
C |
T |
5: 77,423,090 (GRCm39) |
P298L |
possibly damaging |
Het |
| Rhobtb3 |
G |
A |
13: 76,027,051 (GRCm39) |
R441* |
probably null |
Het |
| Rims4 |
T |
A |
2: 163,706,914 (GRCm39) |
K155* |
probably null |
Het |
| Rps6kb1 |
C |
T |
11: 86,410,713 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,707,532 (GRCm39) |
D2835G |
probably damaging |
Het |
| Sc5d |
C |
T |
9: 42,169,946 (GRCm39) |
V92I |
probably benign |
Het |
| Sell |
A |
T |
1: 163,893,829 (GRCm39) |
I175F |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,855,211 (GRCm39) |
D295G |
probably damaging |
Het |
| Sphk1 |
A |
G |
11: 116,426,106 (GRCm39) |
D96G |
probably damaging |
Het |
| Spns3 |
A |
T |
11: 72,428,096 (GRCm39) |
V228D |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,469,828 (GRCm39) |
S4500G |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,678 (GRCm39) |
C232S |
possibly damaging |
Het |
| Terf1 |
A |
G |
1: 15,889,185 (GRCm39) |
I176V |
possibly damaging |
Het |
| Tln2 |
C |
T |
9: 67,209,854 (GRCm39) |
A428T |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,499,711 (GRCm39) |
N321S |
probably benign |
Het |
| Tomm40 |
A |
G |
7: 19,435,761 (GRCm39) |
I323T |
probably benign |
Het |
| Try5 |
T |
A |
6: 41,288,233 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,195,800 (GRCm39) |
I128L |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 79,030,162 (GRCm39) |
F663L |
possibly damaging |
Het |
| Znfx1 |
T |
A |
2: 166,880,950 (GRCm39) |
Y278F |
probably damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,442,117 (GRCm39) |
|
probably benign |
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 |
|
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'- ACAACTCTTCTCCCCTGAGG -3'
(R):5'- CTCATGTTATCACCAGGGTCTC -3'
Sequencing Primer
(F):5'- AGGTAACCCCTGGATGCCTTC -3'
(R):5'- AGGGTCTCTGGGACTGCATC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation