Incidental Mutation 'R1253:Or1l4b'
| ID |
151829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1l4b
|
| Ensembl Gene |
ENSMUSG00000078198 |
| Gene Name |
olfactory receptor family 1 subfamily L member 4B |
| Synonyms |
MOR138-4P, Olfr364, MOR138-7, GA_x6K02T2NLDC-33831282-33832243 |
| MMRRC Submission |
039320-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R1253 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
37036226-37037149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37036884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 220
(V220D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104995]
[ENSMUST00000214905]
[ENSMUST00000217298]
|
| AlphaFold |
A0A140T8Q2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000104995
AA Change: V220D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100611
Gene: ENSMUSG00000078198
AA Change: V220D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
303 |
4.8e-58 |
PFAM |
|
Pfam:7tm_1
|
38 |
287 |
5e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214905
AA Change: V220D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217298
AA Change: V220D
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg2 |
G |
A |
6: 83,499,869 (GRCm39) |
T127I |
probably damaging |
Het |
| Aph1b |
T |
A |
9: 66,697,931 (GRCm39) |
K102* |
probably null |
Het |
| Caskin1 |
A |
G |
17: 24,724,047 (GRCm39) |
K945R |
probably damaging |
Het |
| Ccdc137 |
C |
A |
11: 120,349,005 (GRCm39) |
A12E |
probably benign |
Het |
| Cdhr1 |
A |
G |
14: 36,801,582 (GRCm39) |
M787T |
probably benign |
Het |
| Cic |
T |
A |
7: 24,990,373 (GRCm39) |
V1958E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,651,502 (GRCm39) |
I1170F |
probably null |
Het |
| Cyp2c54 |
T |
A |
19: 40,034,629 (GRCm39) |
Y347F |
probably damaging |
Het |
| Kntc1 |
AGTGT |
AGT |
5: 123,948,925 (GRCm39) |
|
probably null |
Het |
| Large1 |
T |
C |
8: 73,775,050 (GRCm39) |
Y220C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,351,760 (GRCm39) |
D1592E |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,240,380 (GRCm39) |
Q76* |
probably null |
Het |
| Olfm3 |
A |
T |
3: 114,916,418 (GRCm39) |
D450V |
probably damaging |
Het |
| Or4k6 |
A |
G |
14: 50,475,581 (GRCm39) |
C254R |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,917 (GRCm39) |
I310K |
probably benign |
Het |
| Ormdl1 |
G |
A |
1: 53,344,681 (GRCm39) |
R81K |
possibly damaging |
Het |
| Pcdhb12 |
G |
A |
18: 37,568,874 (GRCm39) |
V7I |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 162,120,146 (GRCm39) |
I107T |
probably damaging |
Het |
| Rbm27 |
A |
C |
18: 42,434,839 (GRCm39) |
D301A |
probably damaging |
Het |
| Rexo2 |
A |
T |
9: 48,380,232 (GRCm39) |
I200N |
probably damaging |
Het |
| Rtn4ip1 |
A |
T |
10: 43,786,867 (GRCm39) |
I192L |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,102 (GRCm39) |
F176S |
possibly damaging |
Het |
| Sorcs3 |
C |
A |
19: 48,195,175 (GRCm39) |
A186E |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 65,069,838 (GRCm39) |
Y662C |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,256,619 (GRCm39) |
P377S |
possibly damaging |
Het |
| Srrt |
T |
C |
5: 137,298,598 (GRCm39) |
K222R |
probably benign |
Het |
| Tas2r129 |
T |
C |
6: 132,928,999 (GRCm39) |
I312T |
probably benign |
Het |
| Thbs4 |
G |
T |
13: 92,913,413 (GRCm39) |
P169Q |
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,287,252 (GRCm39) |
M515V |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,028 (GRCm39) |
N122K |
probably benign |
Het |
|
| Other mutations in Or1l4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Or1l4b
|
APN |
2 |
37,037,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01550:Or1l4b
|
APN |
2 |
37,036,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01791:Or1l4b
|
APN |
2 |
37,036,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Or1l4b
|
APN |
2 |
37,036,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02680:Or1l4b
|
APN |
2 |
37,036,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03003:Or1l4b
|
APN |
2 |
37,036,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03289:Or1l4b
|
APN |
2 |
37,036,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Or1l4b
|
UTSW |
2 |
37,036,342 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1163:Or1l4b
|
UTSW |
2 |
37,037,039 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Or1l4b
|
UTSW |
2 |
37,036,769 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1542:Or1l4b
|
UTSW |
2 |
37,036,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1633:Or1l4b
|
UTSW |
2 |
37,036,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2935:Or1l4b
|
UTSW |
2 |
37,037,123 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2982:Or1l4b
|
UTSW |
2 |
37,036,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3855:Or1l4b
|
UTSW |
2 |
37,036,835 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4849:Or1l4b
|
UTSW |
2 |
37,036,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4903:Or1l4b
|
UTSW |
2 |
37,036,383 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5160:Or1l4b
|
UTSW |
2 |
37,036,815 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7092:Or1l4b
|
UTSW |
2 |
37,036,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7108:Or1l4b
|
UTSW |
2 |
37,036,272 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7143:Or1l4b
|
UTSW |
2 |
37,036,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:Or1l4b
|
UTSW |
2 |
37,037,021 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7630:Or1l4b
|
UTSW |
2 |
37,036,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Or1l4b
|
UTSW |
2 |
37,036,858 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7888:Or1l4b
|
UTSW |
2 |
37,036,334 (GRCm39) |
missense |
probably benign |
|
|
R8342:Or1l4b
|
UTSW |
2 |
37,036,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Or1l4b
|
UTSW |
2 |
37,037,016 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9063:Or1l4b
|
UTSW |
2 |
37,036,646 (GRCm39) |
missense |
probably benign |
|
|
R9079:Or1l4b
|
UTSW |
2 |
37,036,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9086:Or1l4b
|
UTSW |
2 |
37,036,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Or1l4b
|
UTSW |
2 |
37,037,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9270:Or1l4b
|
UTSW |
2 |
37,037,047 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9668:Or1l4b
|
UTSW |
2 |
37,036,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1088:Or1l4b
|
UTSW |
2 |
37,036,397 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGTGGTGATGAGGTCACAACG -3'
(R):5'- GAGTGAAGCCTGTCCCTTAACTTCC -3'
Sequencing Primer
(F):5'- ATGAGGTCACAACGCTGCC -3'
(R):5'- GGATTCATCATAGGTGTCACTACTG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation