Incidental Mutation 'R1499:Itgb2'
| ID |
168713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
039550-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R1499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77381987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 18
(K18N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119657
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000130059]
[ENSMUST00000131023]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000299
AA Change: K96N
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: K96N
| 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
AA Change: K18N
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290
AA Change: K18N
| Domain | Start | End | E-Value | Type |
|---|
|
INB
|
1 |
130 |
2.21e-8 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131023
AA Change: K18N
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119657
Gene: ENSMUSG00000000290
AA Change: K18N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Integrin_beta
|
2 |
54 |
7.1e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153541
AA Change: K96N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: K96N
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
99% (83/84) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,030,458 (GRCm39) |
Y763F |
probably benign |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,682 (GRCm39) |
T1002A |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,998,980 (GRCm39) |
N378K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,033,587 (GRCm39) |
|
probably benign |
Het |
| Arhgap6 |
C |
A |
X: 167,579,499 (GRCm39) |
P95T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,798,102 (GRCm39) |
N87S |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,805,353 (GRCm39) |
C735Y |
probably damaging |
Het |
| Atp9b |
T |
A |
18: 80,822,122 (GRCm39) |
T110S |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,919,314 (GRCm39) |
L221R |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,854,233 (GRCm39) |
F101L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,141,762 (GRCm39) |
V390A |
probably damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,750 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cldn12 |
A |
T |
5: 5,557,900 (GRCm39) |
F176I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,450,626 (GRCm39) |
S374P |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,544 (GRCm39) |
V740E |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,526,336 (GRCm39) |
I401K |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,159,191 (GRCm39) |
|
probably null |
Het |
| Ddn |
G |
A |
15: 98,704,647 (GRCm39) |
T215I |
possibly damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,799 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
T |
C |
17: 84,954,667 (GRCm39) |
|
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,445,005 (GRCm39) |
L50* |
probably null |
Het |
| Elavl3 |
G |
A |
9: 21,929,875 (GRCm39) |
A343V |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,538,982 (GRCm39) |
|
probably null |
Het |
| Fgf8 |
C |
A |
19: 45,730,786 (GRCm39) |
V80F |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,891,046 (GRCm39) |
E2858D |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,529 (GRCm39) |
L383Q |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,246,171 (GRCm39) |
K74R |
probably benign |
Het |
| Gmeb2 |
T |
G |
2: 180,897,019 (GRCm39) |
M290L |
probably benign |
Het |
| Gnptg |
A |
G |
17: 25,454,828 (GRCm39) |
|
probably null |
Het |
| Grik2 |
A |
C |
10: 49,008,871 (GRCm39) |
S739A |
probably damaging |
Het |
| Grk2 |
T |
A |
19: 4,337,222 (GRCm39) |
Q659L |
probably benign |
Het |
| Hdhd5 |
A |
G |
6: 120,491,473 (GRCm39) |
V210A |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,455,091 (GRCm39) |
L134F |
probably damaging |
Het |
| Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,137,796 (GRCm39) |
D830E |
probably benign |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,203 (GRCm39) |
D75G |
possibly damaging |
Het |
| Kdm4b |
A |
G |
17: 56,707,025 (GRCm39) |
Y981C |
probably damaging |
Het |
| Klk1b26 |
C |
A |
7: 43,665,810 (GRCm39) |
D207E |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,563 (GRCm39) |
T762N |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,819 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,964,876 (GRCm39) |
S1414P |
possibly damaging |
Het |
| Lce1f |
C |
G |
3: 92,626,276 (GRCm39) |
C127S |
unknown |
Het |
| Map7d1 |
A |
G |
4: 126,128,558 (GRCm39) |
|
probably null |
Het |
| Ninl |
T |
C |
2: 150,822,096 (GRCm39) |
D2G |
possibly damaging |
Het |
| Or2w1b |
T |
A |
13: 21,300,303 (GRCm39) |
M147K |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,287 (GRCm39) |
T25A |
probably benign |
Het |
| Or5m11b |
C |
T |
2: 85,806,372 (GRCm39) |
P262S |
possibly damaging |
Het |
| Or6n1 |
T |
A |
1: 173,916,813 (GRCm39) |
L69* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,319,608 (GRCm39) |
Y381H |
possibly damaging |
Het |
| Pde7a |
T |
C |
3: 19,314,408 (GRCm39) |
I63V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,452,340 (GRCm39) |
F40Y |
probably benign |
Het |
| Phrf1 |
G |
T |
7: 140,836,564 (GRCm39) |
D78Y |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,890,538 (GRCm39) |
|
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,898,652 (GRCm39) |
S199T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,446,567 (GRCm39) |
S209P |
probably damaging |
Het |
| Qtrt2 |
A |
T |
16: 43,689,337 (GRCm39) |
F220L |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,159,747 (GRCm39) |
|
probably null |
Het |
| Rin3 |
A |
G |
12: 102,335,018 (GRCm39) |
T230A |
unknown |
Het |
| Ros1 |
A |
T |
10: 51,974,773 (GRCm39) |
V1604E |
possibly damaging |
Het |
| Rpp14 |
A |
G |
14: 8,090,528 (GRCm38) |
M151V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,153 (GRCm39) |
F4400I |
possibly damaging |
Het |
| Scamp1 |
C |
T |
13: 94,361,437 (GRCm39) |
V148I |
probably benign |
Het |
| Slc13a5 |
A |
G |
11: 72,141,557 (GRCm39) |
C428R |
probably damaging |
Het |
| Slc43a2 |
T |
G |
11: 75,453,733 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
A |
10: 128,299,741 (GRCm39) |
N135K |
probably damaging |
Het |
| Snx15 |
G |
C |
19: 6,172,094 (GRCm39) |
S116R |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,737,885 (GRCm39) |
E414G |
possibly damaging |
Het |
| Stag1 |
A |
T |
9: 100,769,426 (GRCm39) |
|
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,481,263 (GRCm39) |
L257Q |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,882,991 (GRCm39) |
D1968N |
probably benign |
Het |
| Trim42 |
A |
G |
9: 97,248,138 (GRCm39) |
L186P |
possibly damaging |
Het |
| Tshb |
T |
A |
3: 102,685,624 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,484 (GRCm39) |
D13881V |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,239,506 (GRCm39) |
V56A |
probably benign |
Het |
| Uty |
G |
A |
Y: 1,197,228 (GRCm39) |
T113I |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,864,787 (GRCm39) |
E3032G |
probably benign |
Het |
| Wfdc9 |
T |
G |
2: 164,493,729 (GRCm39) |
|
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 10,980,520 (GRCm39) |
T31I |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,060,046 (GRCm39) |
S1191P |
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 |
|
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'- TGTCTAACTGAACTTTCAAGGGCAGG -3'
(R):5'- AGAGATCCCACACTCCAGTGGC -3'
Sequencing Primer
(F):5'- GATCCCACTATTCTAGCCTATGC -3'
(R):5'- TCCAACCAGGTTCCATACCTA -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation