Incidental Mutation 'H8441:Or6b13'
| ID |
82542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6b13
|
| Ensembl Gene |
ENSMUSG00000050366 |
| Gene Name |
olfactory receptor family 6 subfamily B member 13 |
| Synonyms |
GA_x6K02T2PBJ9-42354580-42353624, MOR103-14P, Olfr524 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
H8441 (G3)
of strain
599
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139781299-139785192 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 139781871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 271
(D271N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051943]
[ENSMUST00000215815]
|
| AlphaFold |
Q7TRU0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051943
AA Change: D271N
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000053565
Gene: ENSMUSG00000050366
AA Change: D271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
7.5e-56 |
PFAM |
|
Pfam:7tm_1
|
42 |
292 |
6.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215815
AA Change: D271N
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
C |
11: 50,675,505 (GRCm39) |
D677A |
probably damaging |
Het |
| Dido1 |
G |
T |
2: 180,330,807 (GRCm39) |
Q214K |
probably benign |
Het |
| H2-T5 |
T |
A |
17: 36,478,874 (GRCm39) |
Q125L |
possibly damaging |
Het |
| Itgbl1 |
A |
G |
14: 124,210,699 (GRCm39) |
N342D |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,152,815 (GRCm39) |
I282T |
probably damaging |
Het |
| Pes1 |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
11: 3,927,636 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
C |
T |
13: 48,957,841 (GRCm39) |
A1058T |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,618,192 (GRCm39) |
D69G |
probably damaging |
Het |
| Pnmt |
G |
A |
11: 98,278,513 (GRCm39) |
A160T |
probably benign |
Het |
| Pomgnt2 |
T |
G |
9: 121,811,650 (GRCm39) |
Y377S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,636,976 (GRCm39) |
I242F |
probably damaging |
Het |
| Slc7a1 |
C |
T |
5: 148,271,355 (GRCm39) |
V535M |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,614,578 (GRCm39) |
D310G |
probably damaging |
Het |
| Sult3a2 |
A |
T |
10: 33,642,474 (GRCm39) |
H276Q |
probably benign |
Het |
| Susd5 |
A |
T |
9: 113,925,253 (GRCm39) |
K379* |
probably null |
Het |
| Tbc1d16 |
C |
A |
11: 119,039,840 (GRCm39) |
E656* |
probably null |
Het |
| Tcp10b |
T |
C |
17: 13,289,748 (GRCm39) |
S234P |
probably damaging |
Het |
| Vmo1 |
A |
G |
11: 70,404,572 (GRCm39) |
F143S |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,702,169 (GRCm39) |
E161G |
possibly damaging |
Het |
|
| Other mutations in Or6b13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01991:Or6b13
|
APN |
7 |
139,782,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01999:Or6b13
|
APN |
7 |
139,782,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02005:Or6b13
|
APN |
7 |
139,782,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02030:Or6b13
|
APN |
7 |
139,782,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02474:Or6b13
|
APN |
7 |
139,782,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0426:Or6b13
|
UTSW |
7 |
139,782,029 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0704:Or6b13
|
UTSW |
7 |
139,782,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0891:Or6b13
|
UTSW |
7 |
139,782,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1624:Or6b13
|
UTSW |
7 |
139,781,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1865:Or6b13
|
UTSW |
7 |
139,782,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Or6b13
|
UTSW |
7 |
139,782,144 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2105:Or6b13
|
UTSW |
7 |
139,782,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3009:Or6b13
|
UTSW |
7 |
139,782,669 (GRCm39) |
missense |
probably benign |
|
|
R3546:Or6b13
|
UTSW |
7 |
139,782,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Or6b13
|
UTSW |
7 |
139,782,340 (GRCm39) |
nonsense |
probably null |
|
|
R5009:Or6b13
|
UTSW |
7 |
139,781,751 (GRCm39) |
missense |
probably benign |
|
|
R5105:Or6b13
|
UTSW |
7 |
139,782,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Or6b13
|
UTSW |
7 |
139,782,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5422:Or6b13
|
UTSW |
7 |
139,782,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7314:Or6b13
|
UTSW |
7 |
139,782,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7338:Or6b13
|
UTSW |
7 |
139,782,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7921:Or6b13
|
UTSW |
7 |
139,782,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Or6b13
|
UTSW |
7 |
139,782,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Or6b13
|
UTSW |
7 |
139,782,563 (GRCm39) |
missense |
probably benign |
0.29 |
|
V1662:Or6b13
|
UTSW |
7 |
139,781,871 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATCTGTTCACCCTGATGGACTG -3'
(R):5'- AGAGCTTGTAGACTTCCTCCTGGC -3'
Sequencing Primer
(F):5'- ACCCTGATGGACTGGTGAG -3'
(R):5'- TCATCTTGTTGGGGCCAC -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation