Incidental Mutation 'R1185:Itgb2l'
| ID |
200875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2l
|
| Ensembl Gene |
ENSMUSG00000000157 |
| Gene Name |
integrin beta 2-like |
| Synonyms |
pactolus, 5033406G21Rik |
| MMRRC Submission |
039257-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R1185 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96230240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 357
(Y357H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114497
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113795]
[ENSMUST00000131567]
|
| AlphaFold |
Q3UV74 |
| PDB Structure |
PACTOLUS I-DOMAIN: FUNCTIONAL SWITCHING OF THE ROSSMANN FOLD [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000161
AA Change: Y357H
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: Y357H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
|
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
|
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113773
AA Change: Y357H
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: Y357H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
EGF_like
|
24 |
63 |
3.95e1 |
SMART |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
EGF_like
|
553 |
585 |
4.64e1 |
SMART |
|
Integrin_B_tail
|
594 |
669 |
1.22e-9 |
SMART |
|
transmembrane domain
|
672 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113795
|
| SMART Domains |
Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
IG
|
31 |
125 |
4.74e-5 |
SMART |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131567
AA Change: Y357H
PolyPhen 2
Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: Y357H
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
PSI
|
24 |
74 |
2.88e-4 |
SMART |
|
INB
|
32 |
419 |
7.05e-119 |
SMART |
|
VWA
|
126 |
329 |
1.16e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131777
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.4%
- 20x: 92.9%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele display normal leukocyte development and normal neutrophil recruitment to inflamed tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
| Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
| Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
| Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
| Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
| Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
| Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
| Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
| Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
| Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
| Ift70a1 |
A |
T |
2: 75,810,696 (GRCm39) |
N462K |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
| Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
| Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
| Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
| Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
| Myo16 |
T |
A |
8: 10,683,624 (GRCm39) |
S1856T |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
| Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
| Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
| Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
| Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
| Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,708,475 (GRCm39) |
T167K |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
| Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
| Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
| Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
| Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
Het |
|
| Other mutations in Itgb2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Itgb2l
|
APN |
16 |
96,227,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01482:Itgb2l
|
APN |
16 |
96,239,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01767:Itgb2l
|
APN |
16 |
96,231,775 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02056:Itgb2l
|
APN |
16 |
96,228,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02072:Itgb2l
|
APN |
16 |
96,231,808 (GRCm39) |
missense |
probably benign |
|
|
IGL02858:Itgb2l
|
APN |
16 |
96,223,850 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0011:Itgb2l
|
UTSW |
16 |
96,228,861 (GRCm39) |
splice site |
probably benign |
|
|
R0153:Itgb2l
|
UTSW |
16 |
96,238,569 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0270:Itgb2l
|
UTSW |
16 |
96,224,130 (GRCm39) |
unclassified |
probably benign |
|
|
R0496:Itgb2l
|
UTSW |
16 |
96,235,901 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0627:Itgb2l
|
UTSW |
16 |
96,224,111 (GRCm39) |
unclassified |
probably benign |
|
|
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1185:Itgb2l
|
UTSW |
16 |
96,230,240 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1509:Itgb2l
|
UTSW |
16 |
96,228,049 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1792:Itgb2l
|
UTSW |
16 |
96,226,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Itgb2l
|
UTSW |
16 |
96,228,135 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2210:Itgb2l
|
UTSW |
16 |
96,227,421 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3160:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3162:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3836:Itgb2l
|
UTSW |
16 |
96,227,367 (GRCm39) |
missense |
probably benign |
|
|
R4131:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4132:Itgb2l
|
UTSW |
16 |
96,238,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4254:Itgb2l
|
UTSW |
16 |
96,231,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4854:Itgb2l
|
UTSW |
16 |
96,227,317 (GRCm39) |
nonsense |
probably null |
|
|
R4893:Itgb2l
|
UTSW |
16 |
96,229,021 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4931:Itgb2l
|
UTSW |
16 |
96,238,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Itgb2l
|
UTSW |
16 |
96,226,205 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5055:Itgb2l
|
UTSW |
16 |
96,229,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5960:Itgb2l
|
UTSW |
16 |
96,227,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6412:Itgb2l
|
UTSW |
16 |
96,228,929 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6966:Itgb2l
|
UTSW |
16 |
96,231,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7149:Itgb2l
|
UTSW |
16 |
96,234,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7278:Itgb2l
|
UTSW |
16 |
96,230,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7293:Itgb2l
|
UTSW |
16 |
96,227,996 (GRCm39) |
nonsense |
probably null |
|
|
R7482:Itgb2l
|
UTSW |
16 |
96,228,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7570:Itgb2l
|
UTSW |
16 |
96,227,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7743:Itgb2l
|
UTSW |
16 |
96,238,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Itgb2l
|
UTSW |
16 |
96,228,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8446:Itgb2l
|
UTSW |
16 |
96,233,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Itgb2l
|
UTSW |
16 |
96,236,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Itgb2l
|
UTSW |
16 |
96,238,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAGCTGGGCTATTCCAGGAGAGG -3'
(R):5'- TGTCATCAACACAAACAGGAGGGAC -3'
Sequencing Primer
(F):5'- TAGAACCTGGGCTCTGCTAAG -3'
(R):5'- ACGTGAGAAGTATCACAGTACTTAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation