Incidental Mutation 'R2035:Itgb2'
ID |
224491 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb2
|
Ensembl Gene |
ENSMUSG00000000290 |
Gene Name |
integrin beta 2 |
Synonyms |
Mac-1 beta, 2E6, Cd18 |
MMRRC Submission |
040042-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.537)
|
Stock # |
R2035 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 77383033 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 134
(D134E)
|
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: D134E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000299 Gene: ENSMUSG00000000290 AA Change: D134E
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: D56E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118191 Gene: ENSMUSG00000000290 AA Change: D56E
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: D134E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137734 Gene: ENSMUSG00000000290 AA Change: D134E
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
T |
C |
13: 77,760,761 (GRCm39) |
*1273Q |
probably null |
Het |
Aars2 |
A |
G |
17: 45,825,727 (GRCm39) |
I348V |
possibly damaging |
Het |
Abca8b |
G |
A |
11: 109,847,932 (GRCm39) |
R788C |
possibly damaging |
Het |
Abhd15 |
T |
C |
11: 77,406,536 (GRCm39) |
L171P |
probably damaging |
Het |
Abi3bp |
A |
T |
16: 56,480,581 (GRCm39) |
H686L |
probably benign |
Het |
Acsl1 |
A |
G |
8: 46,981,621 (GRCm39) |
Y456C |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Ash1l |
T |
A |
3: 88,973,624 (GRCm39) |
V2561D |
probably benign |
Het |
B3galnt2 |
T |
A |
13: 14,140,909 (GRCm39) |
F44I |
probably benign |
Het |
Bicra |
A |
T |
7: 15,730,338 (GRCm39) |
H24Q |
possibly damaging |
Het |
Ccdc163 |
T |
C |
4: 116,568,530 (GRCm39) |
S195P |
probably damaging |
Het |
Cd163 |
A |
T |
6: 124,297,588 (GRCm39) |
K911N |
probably damaging |
Het |
Clcn3 |
A |
T |
8: 61,387,632 (GRCm39) |
S179T |
probably damaging |
Het |
Dctn4 |
T |
A |
18: 60,671,489 (GRCm39) |
D120E |
possibly damaging |
Het |
Dnali1 |
C |
T |
4: 124,952,903 (GRCm39) |
V207M |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,354,128 (GRCm39) |
Q3036R |
probably damaging |
Het |
Dst |
G |
A |
1: 34,310,494 (GRCm39) |
R4098H |
probably damaging |
Het |
Eml5 |
A |
T |
12: 98,760,525 (GRCm39) |
N1741K |
probably benign |
Het |
Enah |
G |
A |
1: 181,749,537 (GRCm39) |
P415L |
probably damaging |
Het |
Entr1 |
T |
A |
2: 26,273,639 (GRCm39) |
S374C |
probably damaging |
Het |
Ess2 |
A |
G |
16: 17,727,950 (GRCm39) |
|
probably null |
Het |
F8 |
ATCTCTCTC |
ATCTCTC |
X: 74,366,604 (GRCm39) |
|
probably null |
Het |
Gm4841 |
T |
G |
18: 60,402,929 (GRCm39) |
Y388S |
probably benign |
Het |
Grin3a |
T |
C |
4: 49,771,336 (GRCm39) |
T479A |
probably damaging |
Het |
Gucy2e |
C |
A |
11: 69,118,358 (GRCm39) |
V743L |
probably benign |
Het |
Il33 |
T |
A |
19: 29,932,037 (GRCm39) |
N143K |
probably damaging |
Het |
Ism1 |
T |
A |
2: 139,599,075 (GRCm39) |
S349R |
probably damaging |
Het |
Kcnk1 |
A |
C |
8: 126,752,108 (GRCm39) |
N238T |
possibly damaging |
Het |
Kcnu1 |
G |
T |
8: 26,386,721 (GRCm39) |
V535L |
probably benign |
Het |
Muc19 |
T |
A |
15: 91,776,599 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
A |
T |
14: 103,497,675 (GRCm39) |
Y966N |
probably damaging |
Het |
Myo19 |
A |
T |
11: 84,788,434 (GRCm39) |
M349L |
probably benign |
Het |
Narf |
G |
A |
11: 121,129,326 (GRCm39) |
A37T |
probably benign |
Het |
Ncapd2 |
T |
C |
6: 125,161,491 (GRCm39) |
N208D |
probably benign |
Het |
Nr1i2 |
A |
G |
16: 38,071,488 (GRCm39) |
|
probably null |
Het |
Opn5 |
A |
G |
17: 42,918,052 (GRCm39) |
I70T |
probably damaging |
Het |
Or52e19 |
T |
A |
7: 102,959,463 (GRCm39) |
H178Q |
probably damaging |
Het |
Or7a38 |
T |
C |
10: 78,753,421 (GRCm39) |
V249A |
possibly damaging |
Het |
Pkn2 |
G |
T |
3: 142,526,348 (GRCm39) |
P410T |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,253,080 (GRCm39) |
N1337S |
probably damaging |
Het |
Prkd3 |
A |
T |
17: 79,282,802 (GRCm39) |
|
probably null |
Het |
Pum2 |
T |
A |
12: 8,778,638 (GRCm39) |
Y429* |
probably null |
Het |
Resf1 |
G |
A |
6: 149,230,724 (GRCm39) |
V1257I |
possibly damaging |
Het |
Rttn |
T |
A |
18: 89,038,340 (GRCm39) |
V812E |
probably damaging |
Het |
Rufy2 |
T |
A |
10: 62,842,526 (GRCm39) |
L483H |
probably damaging |
Het |
Slc35a3 |
T |
A |
3: 116,480,972 (GRCm39) |
Q97L |
probably damaging |
Het |
St18 |
A |
T |
1: 6,872,552 (GRCm39) |
M96L |
probably benign |
Het |
Strc |
G |
A |
2: 121,205,415 (GRCm39) |
A905V |
probably damaging |
Het |
Syne3 |
T |
C |
12: 104,924,386 (GRCm39) |
M338V |
probably benign |
Het |
Syngr2 |
A |
G |
11: 117,704,186 (GRCm39) |
D187G |
probably benign |
Het |
Tas2r109 |
A |
C |
6: 132,957,423 (GRCm39) |
I169R |
probably benign |
Het |
Tbc1d22a |
T |
A |
15: 86,275,266 (GRCm39) |
|
probably null |
Het |
Thbs1 |
T |
A |
2: 117,948,821 (GRCm39) |
|
probably null |
Het |
Them6 |
C |
A |
15: 74,593,524 (GRCm39) |
D127E |
probably damaging |
Het |
Tmem132d |
T |
C |
5: 127,869,522 (GRCm39) |
D604G |
probably damaging |
Het |
Tnni1 |
A |
G |
1: 135,733,330 (GRCm39) |
T51A |
probably benign |
Het |
Topors |
T |
C |
4: 40,262,879 (GRCm39) |
N135S |
probably damaging |
Het |
Unc80 |
A |
T |
1: 66,645,752 (GRCm39) |
D1476V |
probably damaging |
Het |
Vmn1r17 |
A |
G |
6: 57,337,573 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,403,732 (GRCm39) |
T87S |
probably benign |
Het |
Vmn1r202 |
C |
A |
13: 22,685,772 (GRCm39) |
R215L |
probably damaging |
Het |
Vmn2r24 |
A |
T |
6: 123,793,019 (GRCm39) |
N782I |
probably damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,332,438 (GRCm39) |
F404L |
possibly damaging |
Het |
Xpo4 |
A |
T |
14: 57,823,383 (GRCm39) |
C1036S |
possibly damaging |
Het |
Yae1d1 |
T |
C |
13: 18,164,306 (GRCm39) |
N104D |
probably benign |
Het |
Zan |
C |
A |
5: 137,442,209 (GRCm39) |
R1901L |
unknown |
Het |
Zbtb9 |
G |
A |
17: 27,193,897 (GRCm39) |
R434H |
probably damaging |
Het |
Zdhhc23 |
A |
C |
16: 43,793,871 (GRCm39) |
C268G |
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 |
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'- TTCCAGGTCATAGGAAATGGGG -3'
(R):5'- ATTCAGGATGAACTCTGGCC -3'
Sequencing Primer
(F):5'- GGAGACAATAGGAATCTGGGGACTG -3'
(R):5'- TCTGGCCCCACGAACATTG -3'
|
Posted On |
2014-08-25 |