Incidental Mutation 'R1340:Or1l4b'
ID |
156982 |
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 |
039405-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.081)
|
Stock # |
R1340 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
37036226-37037149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 37036769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Valine
at position 182
(L182V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000104995]
[ENSMUST00000214905]
[ENSMUST00000217298]
|
AlphaFold |
A0A140T8Q2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000104995
AA Change: L182V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000100611 Gene: ENSMUSG00000078198 AA Change: L182V
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 |
probably benign
Transcript: ENSMUST00000214905
AA Change: L182V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217298
AA Change: L182V
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,628,581 (GRCm39) |
|
probably benign |
Het |
Acat3 |
C |
T |
17: 13,148,564 (GRCm39) |
|
probably benign |
Het |
Actn1 |
T |
C |
12: 80,219,918 (GRCm39) |
|
probably null |
Het |
Adam8 |
G |
A |
7: 139,571,290 (GRCm39) |
S38F |
probably damaging |
Het |
Aldh9a1 |
T |
G |
1: 167,184,913 (GRCm39) |
I275S |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,113,695 (GRCm39) |
N1289S |
probably benign |
Het |
Cacna1d |
A |
G |
14: 29,794,024 (GRCm39) |
V1539A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,348,403 (GRCm39) |
L724P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,395,218 (GRCm39) |
T370A |
probably benign |
Het |
Ccdc9 |
G |
A |
7: 16,009,315 (GRCm39) |
|
probably benign |
Het |
Cep120 |
A |
T |
18: 53,857,463 (GRCm39) |
V334E |
probably damaging |
Het |
Ces3a |
C |
T |
8: 105,784,545 (GRCm39) |
P462L |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,102,690 (GRCm39) |
|
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
T |
A |
2: 65,832,740 (GRCm39) |
F81Y |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,653 (GRCm39) |
T316A |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,476,861 (GRCm39) |
*740R |
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,723,688 (GRCm39) |
K559E |
probably damaging |
Het |
Gm2381 |
A |
G |
7: 42,469,828 (GRCm39) |
Y99H |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,475 (GRCm39) |
V242A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
Lrriq4 |
A |
C |
3: 30,704,472 (GRCm39) |
T167P |
possibly damaging |
Het |
Mtarc2 |
T |
C |
1: 184,554,744 (GRCm39) |
T254A |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,325,630 (GRCm39) |
L93F |
possibly damaging |
Het |
Nefh |
G |
GNNNNNNNNNNNNNNNNNN |
11: 4,891,002 (GRCm39) |
|
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,160,836 (GRCm39) |
S321P |
probably damaging |
Het |
Nt5c1b |
T |
C |
12: 10,427,276 (GRCm39) |
V342A |
probably damaging |
Het |
Nt5c3 |
A |
G |
6: 56,860,018 (GRCm39) |
M273T |
probably benign |
Het |
Or12j2 |
A |
G |
7: 139,916,038 (GRCm39) |
T88A |
probably benign |
Het |
Or6b1 |
G |
A |
6: 42,814,943 (GRCm39) |
V43M |
probably benign |
Het |
Polr3f |
A |
G |
2: 144,380,548 (GRCm39) |
H297R |
probably benign |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,418,079 (GRCm39) |
P142L |
possibly damaging |
Het |
Rps17 |
A |
G |
7: 80,993,481 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
G |
7: 28,815,437 (GRCm39) |
S132P |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,441,958 (GRCm39) |
S1335P |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,029,305 (GRCm39) |
V383A |
possibly damaging |
Het |
Skint7 |
T |
C |
4: 111,837,416 (GRCm39) |
F65L |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,965,550 (GRCm39) |
Y322H |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,908,153 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sox15 |
T |
A |
11: 69,546,373 (GRCm39) |
S59T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,159,910 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
T |
10: 17,718,488 (GRCm39) |
I440F |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,281 (GRCm39) |
S37G |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,797,798 (GRCm39) |
T672A |
probably damaging |
Het |
Wscd1 |
T |
C |
11: 71,659,586 (GRCm39) |
V222A |
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 |
R1253:Or1l4b
|
UTSW |
2 |
37,036,884 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- TACATAACAGTGGCTATCCGGTC -3'
|
Posted On |
2014-02-11 |