Incidental Mutation 'R4131:Itgb2l'
| ID |
314688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2l
|
| Ensembl Gene |
ENSMUSG00000000157 |
| Gene Name |
integrin beta 2-like |
| Synonyms |
pactolus, 5033406G21Rik |
| MMRRC Submission |
040994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R4131 (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 96238589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 70
(L70P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000161]
[ENSMUST00000113773]
[ENSMUST00000113795]
[ENSMUST00000131567]
|
| AlphaFold |
Q3UV74 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000161
AA Change: L70P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157
AA Change: L70P
| 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 damaging
Transcript: ENSMUST00000113773
AA Change: L70P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157
AA Change: L70P
| 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: L70P
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157
AA Change: L70P
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (32/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,359,030 (GRCm39) |
|
probably null |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Art3 |
A |
T |
5: 92,540,421 (GRCm39) |
M55L |
probably benign |
Het |
| C1d |
C |
T |
11: 17,214,054 (GRCm39) |
|
probably benign |
Het |
| Ces1c |
A |
G |
8: 93,827,312 (GRCm39) |
M484T |
probably damaging |
Het |
| Cisd3 |
T |
C |
11: 97,579,257 (GRCm39) |
V133A |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,223,937 (GRCm39) |
I230V |
possibly damaging |
Het |
| Cmklr1 |
C |
A |
5: 113,752,545 (GRCm39) |
R152L |
probably damaging |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Heca |
A |
G |
10: 17,777,987 (GRCm39) |
S537P |
probably damaging |
Het |
| Igha |
C |
A |
12: 113,222,449 (GRCm39) |
|
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,851,111 (GRCm39) |
N181K |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,205,180 (GRCm39) |
R220S |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,917,170 (GRCm39) |
V2252I |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,313,607 (GRCm39) |
C17Y |
probably damaging |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or52n4b |
C |
G |
7: 108,143,744 (GRCm39) |
S2* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,959,170 (GRCm39) |
Y217* |
probably null |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Phactr1 |
A |
T |
13: 43,190,953 (GRCm39) |
Q141L |
probably damaging |
Het |
| Prelid2 |
T |
G |
18: 42,084,224 (GRCm39) |
D6A |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,006,422 (GRCm39) |
S263P |
probably damaging |
Het |
| Rassf6 |
C |
T |
5: 90,757,646 (GRCm39) |
D105N |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,757,328 (GRCm39) |
|
probably null |
Het |
| Sema4g |
T |
A |
19: 44,987,358 (GRCm39) |
F501L |
probably benign |
Het |
| Ssrp1 |
A |
G |
2: 84,874,791 (GRCm39) |
E537G |
probably null |
Het |
| Try4 |
T |
A |
6: 41,282,335 (GRCm39) |
Y218* |
probably null |
Het |
| Zbtb40 |
G |
T |
4: 136,722,707 (GRCm39) |
S790R |
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 |
|
|
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'- CGGTCGAGCTCCTGTAAATG -3'
(R):5'- GAGATCAAGGCTGTCTCTAAGGC -3'
Sequencing Primer
(F):5'- GTCGAGCTCCTGTAAATGCTATGTAC -3'
(R):5'- GCTGTCTCTAAGGCCAGGTATTC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation