Incidental Mutation 'R3160:Itgb2l'
| ID |
258127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Itgb2l
|
| Ensembl Gene |
ENSMUSG00000000157 |
| Gene Name |
integrin beta 2-like |
| Synonyms |
pactolus, 5033406G21Rik |
| MMRRC Submission |
040611-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
| Btnl2 |
T |
C |
17: 34,577,039 (GRCm39) |
W65R |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,042,115 (GRCm39) |
T45A |
possibly damaging |
Het |
| Ccdc181 |
T |
A |
1: 164,107,865 (GRCm39) |
S183T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,738,910 (GRCm39) |
H2311R |
probably benign |
Het |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,767,827 (GRCm39) |
Q221R |
probably benign |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dnajc13 |
G |
T |
9: 104,097,097 (GRCm39) |
N510K |
possibly damaging |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Iqgap1 |
G |
A |
7: 80,402,086 (GRCm39) |
A393V |
probably benign |
Het |
| Irak2 |
G |
T |
6: 113,649,721 (GRCm39) |
A119S |
probably benign |
Het |
| Itsn1 |
C |
A |
16: 91,649,932 (GRCm39) |
S202* |
probably null |
Het |
| Mill2 |
A |
C |
7: 18,590,099 (GRCm39) |
E127A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Myo18b |
A |
C |
5: 112,840,594 (GRCm39) |
S2400A |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,573,135 (GRCm39) |
|
probably null |
Het |
| Nop2 |
A |
G |
6: 125,111,555 (GRCm39) |
N96S |
probably benign |
Het |
| Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or2z2 |
T |
C |
11: 58,346,053 (GRCm39) |
T241A |
probably damaging |
Het |
| Or4c52 |
T |
G |
2: 89,845,365 (GRCm39) |
Y30* |
probably null |
Het |
| Pde5a |
T |
A |
3: 122,575,277 (GRCm39) |
L356* |
probably null |
Het |
| Prss59 |
A |
G |
6: 40,903,003 (GRCm39) |
M123T |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,756,371 (GRCm39) |
N1075K |
probably damaging |
Het |
| Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
| Serinc2 |
A |
G |
4: 130,154,528 (GRCm39) |
S175P |
probably benign |
Het |
| Socs5 |
A |
T |
17: 87,442,146 (GRCm39) |
Q362L |
probably damaging |
Het |
| Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,706,619 (GRCm39) |
V826A |
probably benign |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
| Tuba8 |
A |
G |
6: 121,199,697 (GRCm39) |
D127G |
possibly damaging |
Het |
| Tulp4 |
A |
G |
17: 6,248,983 (GRCm39) |
M1V |
probably null |
Het |
| Urb1 |
A |
G |
16: 90,594,791 (GRCm39) |
L247P |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,916,362 (GRCm39) |
W861R |
probably damaging |
Het |
| Vmn1r48 |
G |
A |
6: 90,013,360 (GRCm39) |
T155I |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
| Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
| Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
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 |
|
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'- GGTCGAGCTCCTGTAAATGC -3'
(R):5'- GGAGATCAAGGCTGTCTCTAAG -3'
Sequencing Primer
(F):5'- GTCGAGCTCCTGTAAATGCTATGTAC -3'
(R):5'- ATCAAGGCTGTCTCTAAGGCCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation