Incidental Mutation 'R7305:Itgb2'
| ID |
567250 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2
|
| Ensembl Gene |
ENSMUSG00000000290 |
| Gene Name |
integrin beta 2 |
| Synonyms |
Mac-1 beta, 2E6, Cd18 |
| MMRRC Submission |
045407-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.477)
|
| Stock # |
R7305 (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 C
at 77384398 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 173
(D173A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000299]
[ENSMUST00000130059]
[ENSMUST00000131023]
[ENSMUST00000153541]
[ENSMUST00000156644]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000299
AA Change: D173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000299
Gene: ENSMUSG00000000290
AA Change: D173A
| 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 damaging
Transcript: ENSMUST00000130059
AA Change: D95A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118191
Gene: ENSMUSG00000000290
AA Change: D95A
| 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 damaging
Transcript: ENSMUST00000153541
AA Change: D173A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000137734
Gene: ENSMUSG00000000290
AA Change: D173A
| 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: 99.7%
- 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd16b |
A |
T |
2: 181,135,209 (GRCm39) |
D37V |
possibly damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,765,258 (GRCm39) |
D87G |
|
Het |
| Ankrd31 |
A |
G |
13: 97,015,479 (GRCm39) |
S1583G |
probably damaging |
Het |
| Ankub1 |
T |
C |
3: 57,599,938 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
A |
G |
10: 81,107,067 (GRCm39) |
D264G |
probably damaging |
Het |
| Armh3 |
A |
T |
19: 45,880,560 (GRCm39) |
M508K |
probably benign |
Het |
| Asap1 |
G |
A |
15: 64,002,099 (GRCm39) |
T404M |
probably damaging |
Het |
| Cnot3 |
A |
T |
7: 3,648,479 (GRCm39) |
|
probably benign |
Het |
| Cxxc1 |
A |
G |
18: 74,352,467 (GRCm39) |
Y349C |
probably benign |
Het |
| Cyfip1 |
AGTGT |
AGT |
7: 55,577,937 (GRCm39) |
|
probably null |
Het |
| Cyp3a57 |
A |
G |
5: 145,307,795 (GRCm39) |
I184V |
probably benign |
Het |
| D130052B06Rik |
GTCTACACTGTCCTGCACAGGTGACCCATCTACCCCGTCCTATCCTGGCGACCCATCTACACTGTCCTG |
GTCTACACTGTCCTG |
11: 33,573,355 (GRCm39) |
|
probably null |
Het |
| Dab1 |
T |
A |
4: 104,570,987 (GRCm39) |
D210E |
|
Het |
| Elavl1 |
G |
A |
8: 4,375,199 (GRCm39) |
|
probably benign |
Het |
| Emilin1 |
C |
T |
5: 31,074,433 (GRCm39) |
Q225* |
probably null |
Het |
| Eml6 |
G |
T |
11: 29,727,258 (GRCm39) |
A1288E |
probably benign |
Het |
| Eno1 |
T |
C |
4: 150,329,796 (GRCm39) |
|
probably null |
Het |
| Eprs1 |
C |
T |
1: 185,111,898 (GRCm39) |
R303C |
probably damaging |
Het |
| Eps15l1 |
G |
A |
8: 73,126,878 (GRCm39) |
A651V |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,714,368 (GRCm39) |
I156F |
probably damaging |
Het |
| Faim2 |
A |
T |
15: 99,411,814 (GRCm39) |
I171N |
probably damaging |
Het |
| Fam135a |
T |
A |
1: 24,069,939 (GRCm39) |
N381I |
probably damaging |
Het |
| Fhip1a |
G |
T |
3: 85,637,831 (GRCm39) |
P156Q |
probably damaging |
Het |
| Gabrg3 |
T |
A |
7: 56,384,833 (GRCm39) |
M243L |
probably benign |
Het |
| Garin2 |
A |
G |
12: 78,761,809 (GRCm39) |
K158E |
possibly damaging |
Het |
| Gm5134 |
A |
G |
10: 75,836,233 (GRCm39) |
I405V |
probably damaging |
Het |
| Gm9376 |
A |
T |
14: 118,504,768 (GRCm39) |
K67* |
probably null |
Het |
| Grm8 |
A |
T |
6: 27,761,354 (GRCm39) |
I290K |
possibly damaging |
Het |
| Hao1 |
T |
A |
2: 134,390,121 (GRCm39) |
M73L |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,369,150 (GRCm39) |
D452G |
|
Het |
| Idh3b |
C |
A |
2: 130,123,413 (GRCm39) |
K192N |
possibly damaging |
Het |
| Igkv6-23 |
A |
G |
6: 70,237,553 (GRCm39) |
S63P |
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,049,301 (GRCm39) |
T255S |
probably benign |
Het |
| Lamc3 |
A |
C |
2: 31,820,714 (GRCm39) |
E1243A |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,129,939 (GRCm39) |
T252A |
probably damaging |
Het |
| Mrgpra1 |
C |
A |
7: 46,985,203 (GRCm39) |
A159S |
probably benign |
Het |
| Ndst3 |
T |
C |
3: 123,395,131 (GRCm39) |
I500V |
possibly damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,434 (GRCm39) |
T1523A |
possibly damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,343,298 (GRCm39) |
I322T |
probably damaging |
Het |
| Nup210 |
T |
C |
6: 91,064,948 (GRCm39) |
E184G |
probably damaging |
Het |
| Obsl1 |
C |
T |
1: 75,470,590 (GRCm39) |
W1022* |
probably null |
Het |
| Or2l13 |
T |
A |
16: 19,306,449 (GRCm39) |
I287N |
probably damaging |
Het |
| Or4a77 |
T |
A |
2: 89,486,846 (GRCm39) |
H313L |
probably benign |
Het |
| Or52p2 |
G |
T |
7: 102,237,162 (GRCm39) |
Q263K |
possibly damaging |
Het |
| Or5p51 |
A |
T |
7: 107,444,572 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or6c1 |
A |
T |
10: 129,518,149 (GRCm39) |
I153N |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,720 (GRCm39) |
Y118* |
probably null |
Het |
| Otulinl |
A |
G |
15: 27,658,319 (GRCm39) |
C184R |
probably benign |
Het |
| Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
| Parp8 |
A |
G |
13: 117,031,461 (GRCm39) |
L417P |
possibly damaging |
Het |
| Pdia6 |
A |
G |
12: 17,324,509 (GRCm39) |
Q120R |
probably benign |
Het |
| Ppp3cc |
T |
C |
14: 70,478,252 (GRCm39) |
N290S |
probably benign |
Het |
| Prdm5 |
C |
A |
6: 65,808,244 (GRCm39) |
S63R |
possibly damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,445 (GRCm39) |
D350G |
probably benign |
Het |
| Pwwp2a |
T |
C |
11: 43,607,878 (GRCm39) |
L497S |
probably damaging |
Het |
| R3hdm2 |
A |
G |
10: 127,312,547 (GRCm39) |
N430D |
probably benign |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,344 (GRCm39) |
N422S |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,805,638 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,522 (GRCm39) |
|
probably null |
Het |
| Slc28a3 |
T |
A |
13: 58,714,045 (GRCm39) |
E440V |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,947,932 (GRCm39) |
I482K |
probably damaging |
Het |
| Slco1a1 |
A |
T |
6: 141,870,223 (GRCm39) |
F305Y |
probably damaging |
Het |
| Slco1a8 |
G |
A |
6: 141,938,220 (GRCm39) |
A253V |
probably damaging |
Het |
| Slco4c1 |
T |
C |
1: 96,756,690 (GRCm39) |
N544S |
probably damaging |
Het |
| Smpd4 |
T |
A |
16: 17,459,647 (GRCm39) |
I656N |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,953 (GRCm39) |
I4019K |
probably benign |
Het |
| Taok1 |
A |
T |
11: 77,432,500 (GRCm39) |
L771* |
probably null |
Het |
| Tmem231 |
T |
C |
8: 112,641,927 (GRCm39) |
D209G |
possibly damaging |
Het |
| Tmem25 |
A |
G |
9: 44,706,705 (GRCm39) |
|
probably null |
Het |
| Tmem79 |
T |
C |
3: 88,240,718 (GRCm39) |
T77A |
probably benign |
Het |
| Topbp1 |
A |
T |
9: 103,205,836 (GRCm39) |
T825S |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,853,455 (GRCm39) |
Q1825L |
probably benign |
Het |
| Uba1y |
T |
A |
Y: 821,348 (GRCm39) |
D110E |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,261,280 (GRCm39) |
N3422K |
probably benign |
Het |
| Vmn1r219 |
A |
T |
13: 23,347,314 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,235 (GRCm39) |
H736R |
possibly damaging |
Het |
| Wdr1 |
T |
C |
5: 38,697,435 (GRCm39) |
H291R |
possibly damaging |
Het |
| Zan |
T |
C |
5: 137,413,401 (GRCm39) |
T3177A |
unknown |
Het |
| Zbtb21 |
T |
C |
16: 97,752,495 (GRCm39) |
H596R |
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 |
|
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'- AGGCTTGGTCCTTAGTCCAC -3'
(R):5'- ACTTGCATTATGGCATCCAGC -3'
Sequencing Primer
(F):5'- CCACTGGAAGGTTCACTGTCATG -3'
(R):5'- TCAGGGGCGTCCAGGTTTC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation