Incidental Mutation 'R4254:Itgb2l'
ID |
321750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Itgb2l
|
Ensembl Gene |
ENSMUSG00000000157 |
Gene Name |
integrin beta 2-like |
Synonyms |
pactolus, 5033406G21Rik |
MMRRC Submission |
041067-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R4254 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
96223488-96244819 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96231777 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 330
(N330D)
|
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 |
probably benign
Transcript: ENSMUST00000000161
AA Change: N330D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000000161 Gene: ENSMUSG00000000157 AA Change: N330D
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: N330D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000109403 Gene: ENSMUSG00000000157 AA Change: N330D
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 |
probably benign
Transcript: ENSMUST00000131567
AA Change: N330D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000114497 Gene: ENSMUSG00000000157 AA Change: N330D
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 |
0.1156 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (40/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
Adgrg2 |
T |
G |
X: 159,265,404 (GRCm39) |
S551R |
possibly damaging |
Het |
Anapc2 |
T |
C |
2: 25,163,357 (GRCm39) |
V198A |
probably benign |
Het |
Asxl3 |
T |
C |
18: 22,657,423 (GRCm39) |
I1811T |
possibly damaging |
Het |
Atp5mc3 |
A |
C |
2: 73,740,319 (GRCm39) |
|
probably benign |
Het |
Ccdc27 |
A |
C |
4: 154,123,976 (GRCm39) |
S186A |
unknown |
Het |
Ccdc28a |
A |
G |
10: 18,100,683 (GRCm39) |
L48P |
probably damaging |
Het |
Cdh19 |
C |
T |
1: 110,852,760 (GRCm39) |
A392T |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,942,517 (GRCm39) |
D1679G |
probably benign |
Het |
Copa |
C |
T |
1: 171,929,811 (GRCm39) |
R293C |
probably damaging |
Het |
Depdc1a |
A |
G |
3: 159,204,124 (GRCm39) |
R58G |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
Dsg4 |
A |
T |
18: 20,604,595 (GRCm39) |
T1021S |
probably benign |
Het |
Hrh1 |
T |
A |
6: 114,456,962 (GRCm39) |
M81K |
probably damaging |
Het |
Ipo11 |
G |
A |
13: 107,029,017 (GRCm39) |
T312I |
probably benign |
Het |
Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
Kcnb1 |
A |
G |
2: 166,947,651 (GRCm39) |
I399T |
probably damaging |
Het |
Muc13 |
G |
A |
16: 33,636,221 (GRCm39) |
M568I |
probably benign |
Het |
Nlrp1a |
A |
C |
11: 71,013,854 (GRCm39) |
Y465* |
probably null |
Het |
Nwd2 |
G |
A |
5: 63,963,889 (GRCm39) |
V1158I |
possibly damaging |
Het |
Or2h1b |
A |
G |
17: 37,462,530 (GRCm39) |
I111T |
possibly damaging |
Het |
Or5d14 |
C |
T |
2: 87,880,123 (GRCm39) |
V282I |
possibly damaging |
Het |
Or8b101 |
T |
A |
9: 38,020,546 (GRCm39) |
L183H |
probably damaging |
Het |
Ptprr |
T |
A |
10: 115,998,348 (GRCm39) |
|
probably null |
Het |
Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serinc3 |
T |
A |
2: 163,478,888 (GRCm39) |
M80L |
probably benign |
Het |
Sf1 |
T |
C |
19: 6,421,677 (GRCm39) |
V140A |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,574,852 (GRCm39) |
V519E |
probably benign |
Het |
Slc16a10 |
A |
G |
10: 39,952,997 (GRCm39) |
Y166H |
probably damaging |
Het |
Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
Smim29 |
A |
T |
17: 27,784,696 (GRCm39) |
|
probably null |
Het |
Tmbim1 |
C |
A |
1: 74,333,090 (GRCm39) |
V92F |
probably damaging |
Het |
Vsig4 |
C |
A |
X: 95,334,107 (GRCm39) |
R134L |
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 |
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 |
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'- AACTCATGTTTCAGGGAGAGTC -3'
(R):5'- AGCATCATCCTAGCCACCTG -3'
Sequencing Primer
(F):5'- ACTCATGTTTCAGGGAGAGTCAGATG -3'
(R):5'- ATCCTAGCCACCTGGAGAGTTTAG -3'
|
Posted On |
2015-06-20 |