Incidental Mutation 'R9479:Itgb2'
| ID |
716134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.537)
|
| Stock # |
R9479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77396942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 659
(K659M)
|
| 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: K659M
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: K659M
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox3 |
A |
G |
1: 58,177,568 (GRCm39) |
Y261C |
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,047,632 (GRCm39) |
V1165A |
probably damaging |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Bhmt2 |
G |
A |
13: 93,799,833 (GRCm39) |
A201V |
probably damaging |
Het |
| Ccdc115 |
A |
T |
1: 34,476,895 (GRCm39) |
S115T |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,617,100 (GRCm39) |
V850A |
probably benign |
Het |
| Commd8 |
A |
T |
5: 72,318,350 (GRCm39) |
H144Q |
probably benign |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Csnka2ip |
T |
C |
16: 64,298,262 (GRCm39) |
K701E |
unknown |
Het |
| Cyb5d2 |
A |
G |
11: 72,669,702 (GRCm39) |
C219R |
|
Het |
| Ep400 |
T |
C |
5: 110,877,730 (GRCm39) |
T835A |
unknown |
Het |
| Fam169a |
A |
G |
13: 97,246,543 (GRCm39) |
Y228C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,250,695 (GRCm39) |
D342G |
possibly damaging |
Het |
| Fbxw21 |
A |
T |
9: 108,968,612 (GRCm39) |
C455S |
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,561,625 (GRCm39) |
S190P |
probably damaging |
Het |
| Gabra5 |
A |
G |
7: 57,058,440 (GRCm39) |
I436T |
|
Het |
| Gm9767 |
G |
A |
10: 25,954,916 (GRCm39) |
G156D |
|
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Gsn |
T |
C |
2: 35,186,227 (GRCm39) |
|
probably null |
Het |
| Hao1 |
A |
G |
2: 134,396,204 (GRCm39) |
S17P |
probably benign |
Het |
| Hspa1l |
A |
G |
17: 35,196,735 (GRCm39) |
N258S |
probably benign |
Het |
| Isyna1 |
C |
T |
8: 71,048,193 (GRCm39) |
R200C |
probably damaging |
Het |
| Klf11 |
T |
C |
12: 24,705,029 (GRCm39) |
M161T |
probably benign |
Het |
| Ktn1 |
A |
T |
14: 47,962,174 (GRCm39) |
K1114N |
probably damaging |
Het |
| Lonrf1 |
G |
A |
8: 36,697,668 (GRCm39) |
R439* |
probably null |
Het |
| Lrrc26 |
C |
T |
2: 25,180,571 (GRCm39) |
P191S |
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,854 (GRCm39) |
I576T |
possibly damaging |
Het |
| Or10al4 |
T |
C |
17: 38,036,986 (GRCm39) |
S24P |
probably damaging |
Het |
| Or14c45 |
T |
C |
7: 86,176,285 (GRCm39) |
C107R |
possibly damaging |
Het |
| Or14j4 |
A |
G |
17: 37,920,718 (GRCm39) |
F308S |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,013 (GRCm39) |
F94L |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,677 (GRCm39) |
R231G |
probably damaging |
Het |
| Or7g20 |
G |
A |
9: 18,946,730 (GRCm39) |
V104I |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,217,963 (GRCm39) |
V2104A |
probably benign |
Het |
| Pds5a |
G |
A |
5: 65,792,747 (GRCm39) |
R729W |
probably damaging |
Het |
| Pgap1 |
G |
A |
1: 54,582,275 (GRCm39) |
Q191* |
probably null |
Het |
| Pglyrp3 |
A |
G |
3: 91,935,310 (GRCm39) |
I187V |
probably benign |
Het |
| Pkdrej |
T |
A |
15: 85,699,571 (GRCm39) |
I2122F |
possibly damaging |
Het |
| Pold1 |
G |
A |
7: 44,191,079 (GRCm39) |
R251W |
probably damaging |
Het |
| Prr22 |
A |
G |
17: 57,078,335 (GRCm39) |
M163V |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,001,388 (GRCm39) |
N814K |
probably benign |
Het |
| Rapgef2 |
G |
A |
3: 79,019,495 (GRCm39) |
L59F |
probably damaging |
Het |
| Rbm22 |
T |
C |
18: 60,699,492 (GRCm39) |
L147P |
probably damaging |
Het |
| Rgsl1 |
G |
A |
1: 153,657,445 (GRCm39) |
S391F |
unknown |
Het |
| Rnf13 |
A |
T |
3: 57,727,983 (GRCm39) |
D221V |
possibly damaging |
Het |
| Senp2 |
T |
A |
16: 21,842,398 (GRCm39) |
L154Q |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,332 (GRCm39) |
Q131R |
possibly damaging |
Het |
| Tmprss11a |
A |
T |
5: 86,562,402 (GRCm39) |
Y314* |
probably null |
Het |
| Ttn |
G |
T |
2: 76,666,286 (GRCm39) |
P11590Q |
unknown |
Het |
| Txnrd3 |
C |
T |
6: 89,640,084 (GRCm39) |
T266M |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,194,497 (GRCm39) |
S64G |
possibly 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 |
|
R9082:Itgb2
|
UTSW |
10 |
77,384,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Itgb2
|
UTSW |
10 |
77,393,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGTGCCCTCGAAAGAAC -3'
(R):5'- ACTGTCTGCAAAGGCCTCAC -3'
Sequencing Primer
(F):5'- GTGCCCTCGAAAGAACCAACATG -3'
(R):5'- ACGGTCAGAGTACTCCACTGAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation