Incidental Mutation 'R5297:Itgb2'
| ID |
405493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
042880-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R5297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77400501 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 705
(I705V)
|
| 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 damaging
Transcript: ENSMUST00000000299
AA Change: I705V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: I705V
| 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: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,463,204 (GRCm39) |
A135S |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,423,895 (GRCm39) |
K307R |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,300,083 (GRCm39) |
E653G |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,254,941 (GRCm39) |
Y273H |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,498,443 (GRCm39) |
V250M |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,719,322 (GRCm39) |
D215A |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
| Casp6 |
T |
C |
3: 129,704,204 (GRCm39) |
F97L |
possibly damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,290 (GRCm39) |
N296S |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 105,952,066 (GRCm39) |
K611E |
probably benign |
Het |
| Copa |
A |
G |
1: 171,940,675 (GRCm39) |
H696R |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,011,629 (GRCm39) |
N283K |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,511,809 (GRCm39) |
V869I |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,817,868 (GRCm39) |
G116C |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,302,473 (GRCm39) |
E373G |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 77,993,561 (GRCm39) |
T318A |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,891,469 (GRCm39) |
W403R |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Golgb1 |
G |
A |
16: 36,695,978 (GRCm39) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,187 (GRCm39) |
S393G |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,833,626 (GRCm39) |
L171P |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,095 (GRCm39) |
I221T |
probably benign |
Het |
| Map4k4 |
G |
T |
1: 40,001,377 (GRCm39) |
V55F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,639,947 (GRCm39) |
|
probably null |
Het |
| Mitf |
G |
T |
6: 97,971,391 (GRCm39) |
G186V |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nrcam |
T |
C |
12: 44,591,567 (GRCm39) |
F204L |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,647,675 (GRCm39) |
L218P |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,218,766 (GRCm39) |
M44V |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,377,215 (GRCm39) |
V145E |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,904,371 (GRCm39) |
S69P |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,144,611 (GRCm39) |
N291I |
probably damaging |
Het |
| Or5as1 |
T |
C |
2: 86,980,793 (GRCm39) |
I71V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,726,263 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,504,202 (GRCm39) |
Y631N |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,798,348 (GRCm39) |
D106E |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,409,966 (GRCm39) |
D462G |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,247,924 (GRCm39) |
S427P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,299,378 (GRCm39) |
Y1376F |
possibly damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,543 (GRCm39) |
W1359R |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,711,753 (GRCm39) |
Y304H |
probably damaging |
Het |
| Stk38l |
C |
A |
6: 146,677,153 (GRCm39) |
Y450* |
probably null |
Het |
| Stx19 |
A |
G |
16: 62,642,337 (GRCm39) |
E51G |
probably damaging |
Het |
| Ttc41 |
C |
G |
10: 86,612,443 (GRCm39) |
Q1239E |
probably benign |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,766,915 (GRCm39) |
V264D |
probably damaging |
Het |
| V1rd19 |
T |
C |
7: 23,702,714 (GRCm39) |
V60A |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,494,819 (GRCm39) |
V40G |
probably damaging |
Het |
| Vmn1r160 |
C |
T |
7: 22,570,715 (GRCm39) |
Q23* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,339,805 (GRCm39) |
I57V |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,832 (GRCm39) |
F802L |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 41,909,646 (GRCm39) |
D57G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,785,413 (GRCm39) |
N260S |
probably damaging |
Het |
| Xirp1 |
C |
A |
9: 119,848,668 (GRCm39) |
A72S |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,906,011 (GRCm39) |
V190A |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- ACAGGGCCTGATCTTATTTCTG -3'
(R):5'- ATTGCTGCCTGTGAGAGGTC -3'
Sequencing Primer
(F):5'- CAGGGCCTGATCTTATTTCTGATAGG -3'
(R):5'- CTGCCTGTGAGAGGTCAAAGAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation