Incidental Mutation 'R7772:Itgb2'
| ID |
598650 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
045828-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R7772 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77396946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 660
(K660N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000299
AA Change: K660N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: K660N
| 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: 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
T |
A |
11: 3,839,784 (GRCm39) |
|
probably null |
Het |
| Adora3 |
T |
C |
3: 105,815,039 (GRCm39) |
V263A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Arfgef1 |
A |
G |
1: 10,227,235 (GRCm39) |
V1368A |
possibly damaging |
Het |
| Arid4a |
A |
T |
12: 71,108,363 (GRCm39) |
N56I |
possibly damaging |
Het |
| Art3 |
A |
T |
5: 92,551,472 (GRCm39) |
Y277F |
probably damaging |
Het |
| Atp2a1 |
A |
T |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
| Banf1 |
T |
C |
19: 5,415,150 (GRCm39) |
K54E |
possibly damaging |
Het |
| Bckdk |
A |
G |
7: 127,505,073 (GRCm39) |
Y151C |
probably damaging |
Het |
| C1qtnf3 |
C |
A |
15: 10,958,130 (GRCm39) |
P58T |
possibly damaging |
Het |
| Cadps2 |
T |
C |
6: 23,390,445 (GRCm39) |
R744G |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,031,029 (GRCm39) |
D118G |
probably damaging |
Het |
| Cnot9 |
G |
A |
1: 74,566,151 (GRCm39) |
V181I |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,204,488 (GRCm39) |
G738D |
probably benign |
Het |
| Col18a1 |
T |
A |
10: 76,904,220 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
A |
G |
2: 145,772,564 (GRCm39) |
V171A |
probably benign |
Het |
| Dhx57 |
C |
T |
17: 80,580,507 (GRCm39) |
D482N |
possibly damaging |
Het |
| Dpysl2 |
A |
T |
14: 67,066,425 (GRCm39) |
|
probably null |
Het |
| Drd3 |
G |
T |
16: 43,582,758 (GRCm39) |
A52S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,220,469 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,261 (GRCm39) |
T1810A |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,248,783 (GRCm39) |
W92R |
probably damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,320,103 (GRCm39) |
D51V |
possibly damaging |
Het |
| Gm11232 |
A |
T |
4: 71,674,818 (GRCm39) |
V228E |
possibly damaging |
Het |
| Gm14305 |
C |
T |
2: 176,412,764 (GRCm39) |
Q219* |
probably null |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr39 |
G |
T |
1: 125,605,334 (GRCm39) |
M87I |
possibly damaging |
Het |
| Heatr1 |
T |
C |
13: 12,432,522 (GRCm39) |
M1089T |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,308,640 (GRCm39) |
M452K |
|
Het |
| Ints8 |
A |
T |
4: 11,227,190 (GRCm39) |
I561N |
probably damaging |
Het |
| Jun |
A |
C |
4: 94,939,081 (GRCm39) |
V143G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,851,952 (GRCm39) |
M2076T |
probably benign |
Het |
| Krt10 |
G |
T |
11: 99,279,913 (GRCm39) |
S82R |
unknown |
Het |
| Lipm |
T |
A |
19: 34,095,291 (GRCm39) |
H295Q |
probably damaging |
Het |
| Mybpc2 |
A |
C |
7: 44,165,348 (GRCm39) |
|
probably null |
Het |
| Nedd4 |
T |
C |
9: 72,584,608 (GRCm39) |
V103A |
possibly damaging |
Het |
| Nol10 |
T |
C |
12: 17,398,586 (GRCm39) |
I11T |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,067,233 (GRCm39) |
S758G |
probably damaging |
Het |
| Or13d1 |
T |
A |
4: 52,970,713 (GRCm39) |
C31S |
probably damaging |
Het |
| Or52r1c |
T |
G |
7: 102,735,388 (GRCm39) |
I216S |
probably benign |
Het |
| Or8d4 |
T |
C |
9: 40,038,661 (GRCm39) |
I199V |
probably benign |
Het |
| Osbpl9 |
T |
C |
4: 108,923,384 (GRCm39) |
H425R |
probably damaging |
Het |
| Parp1 |
G |
T |
1: 180,416,963 (GRCm39) |
R582S |
possibly damaging |
Het |
| Piwil1 |
A |
T |
5: 128,816,527 (GRCm39) |
R36S |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,487,877 (GRCm39) |
|
probably null |
Het |
| Plekha6 |
G |
T |
1: 133,097,760 (GRCm39) |
E31D |
possibly damaging |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prm3 |
CTCTTCTTCTTCTTC |
CTCTTCTTCTTC |
16: 10,608,565 (GRCm39) |
|
probably benign |
Het |
| Psmc6 |
T |
A |
14: 45,581,107 (GRCm39) |
I301N |
probably damaging |
Het |
| Rfpl4 |
C |
A |
7: 5,118,543 (GRCm39) |
S9I |
probably benign |
Het |
| Rnf14 |
G |
T |
18: 38,442,629 (GRCm39) |
C310F |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,715,144 (GRCm39) |
F845L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,758,777 (GRCm39) |
I665V |
probably benign |
Het |
| Rtl1 |
T |
A |
12: 109,559,619 (GRCm39) |
H740L |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,765,897 (GRCm39) |
S1280P |
probably benign |
Het |
| Slc12a8 |
G |
A |
16: 33,371,335 (GRCm39) |
R126H |
probably damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,276 (GRCm39) |
F165L |
probably damaging |
Het |
| Snx19 |
T |
C |
9: 30,340,221 (GRCm39) |
I453T |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 99,987,434 (GRCm39) |
Y1575H |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,704,567 (GRCm39) |
I415M |
probably damaging |
Het |
| Ssx2ip |
T |
G |
3: 146,138,885 (GRCm39) |
I459S |
probably damaging |
Het |
| Stfa1 |
A |
G |
16: 36,097,363 (GRCm39) |
|
probably null |
Het |
| Tmem156 |
A |
T |
5: 65,237,517 (GRCm39) |
S48T |
probably damaging |
Het |
| Tmx3 |
T |
A |
18: 90,545,918 (GRCm39) |
|
probably null |
Het |
| Unc93a |
A |
T |
17: 13,328,639 (GRCm39) |
F405I |
possibly damaging |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,664 (GRCm39) |
I9F |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,533,482 (GRCm39) |
D462G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,080,465 (GRCm39) |
|
probably benign |
Het |
| Zfp551 |
T |
C |
7: 12,152,535 (GRCm39) |
D66G |
probably damaging |
Het |
| Znrf4 |
A |
C |
17: 56,819,247 (GRCm39) |
V20G |
possibly damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,770 (GRCm39) |
E200G |
probably benign |
Het |
| Zup1 |
A |
T |
10: 33,797,698 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GCGCCAATTCACACCTCATG -3'
(R):5'- AGAGATGTTTTCCTCTACAGCCC -3'
Sequencing Primer
(F):5'- ATGCCCTTACATGCTCTCAACAC -3'
(R):5'- ACGGTCAGAGTACTCCACTGAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation