Incidental Mutation 'R0217:Itgb2'
ID |
33623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb2
|
Ensembl Gene |
ENSMUSG00000000290 |
Gene Name |
integrin beta 2 |
Synonyms |
Mac-1 beta, 2E6, Cd18 |
MMRRC Submission |
038466-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.477)
|
Stock # |
R0217 (G1)
|
Quality Score |
108 |
Status
|
Validated
(trace)
|
Chromosome |
10 |
Chromosomal Location |
77366164-77401542 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to T
at 77384370 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137865
(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
|
SMART Domains |
Protein: ENSMUSP00000000299 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 |
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
|
SMART Domains |
Protein: ENSMUSP00000118191 Gene: ENSMUSG00000000290
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 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
Ctnnal1 |
T |
C |
4: 56,813,230 (GRCm39) |
H667R |
probably benign |
Het |
Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,039,570 (GRCm39) |
D843G |
probably damaging |
Het |
Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
Stxbp1 |
T |
C |
2: 32,691,882 (GRCm39) |
S437G |
possibly damaging |
Het |
Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
Trpc7 |
C |
T |
13: 56,937,581 (GRCm39) |
W570* |
probably null |
Het |
Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
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 |
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'- TTGCACCACACGCTCAGCTATC -3'
(R):5'- TGCTTGCCGACCTCTGTCTGAAAC -3'
Sequencing Primer
(F):5'- CTCCCTTGTTTGAGAAACTGAG -3'
(R):5'- ACATGGGTTCCTCAGCTTCT -3'
|
Posted On |
2013-05-09 |