Incidental Mutation 'IGL02968:Or51aa5'
| ID |
365685 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51aa5
|
| Ensembl Gene |
ENSMUSG00000096584 |
| Gene Name |
olfactory receptor family 51 subfamily AA member 5 |
| Synonyms |
MOR15-1, MOR15-4, Olfr611, GA_x6K02T2PBJ9-6236637-6235666 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02968
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103166618-103167589 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103167466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 42
(V42M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149114
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078108]
[ENSMUST00000216074]
|
| AlphaFold |
K7N609 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078108
AA Change: V42M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077246
Gene: ENSMUSG00000096584
AA Change: V42M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
5.6e-110 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
4.6e-11 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216074
AA Change: V42M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
T |
6: 91,900,454 (GRCm39) |
D441V |
probably damaging |
Het |
| Abcd1 |
T |
C |
X: 72,760,664 (GRCm39) |
S10P |
possibly damaging |
Het |
| Acad12 |
T |
C |
5: 121,748,101 (GRCm39) |
S106G |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,310 (GRCm39) |
T127A |
probably damaging |
Het |
| Cela3a |
A |
G |
4: 137,131,132 (GRCm39) |
V202A |
probably damaging |
Het |
| Cenpu |
T |
C |
8: 47,009,230 (GRCm39) |
|
probably null |
Het |
| Dusp9 |
T |
C |
X: 72,685,039 (GRCm39) |
S222P |
probably benign |
Het |
| Exoc5 |
A |
G |
14: 49,270,726 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
T |
6: 99,052,822 (GRCm39) |
A90D |
probably damaging |
Het |
| Krt12 |
G |
T |
11: 99,308,843 (GRCm39) |
A398E |
probably damaging |
Het |
| Mtss1 |
G |
T |
15: 58,828,364 (GRCm39) |
T183K |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,847,266 (GRCm39) |
|
probably benign |
Het |
| Nlrp2 |
T |
C |
7: 5,304,024 (GRCm39) |
E167G |
possibly damaging |
Het |
| Nos2 |
T |
C |
11: 78,828,463 (GRCm39) |
Y148H |
probably damaging |
Het |
| Or2t43 |
T |
C |
11: 58,458,021 (GRCm39) |
D50G |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,451 (GRCm39) |
F163I |
possibly damaging |
Het |
| Pde7a |
G |
A |
3: 19,297,285 (GRCm39) |
R122* |
probably null |
Het |
| Pkdrej |
A |
T |
15: 85,700,382 (GRCm39) |
Y1851* |
probably null |
Het |
| Rbl1 |
C |
T |
2: 157,019,194 (GRCm39) |
R517H |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,383,947 (GRCm39) |
S661T |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,743,318 (GRCm39) |
D3886G |
probably damaging |
Het |
| Samd9l |
A |
G |
6: 3,376,026 (GRCm39) |
Y412H |
probably damaging |
Het |
| Scarf1 |
T |
C |
11: 75,414,915 (GRCm39) |
S530P |
probably damaging |
Het |
| Spam1 |
A |
G |
6: 24,796,442 (GRCm39) |
E131G |
possibly damaging |
Het |
| Tmem185b |
C |
A |
1: 119,454,851 (GRCm39) |
A204E |
possibly damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,249 (GRCm39) |
K413E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,849,068 (GRCm39) |
S2448P |
probably benign |
Het |
| Xkr5 |
T |
C |
8: 18,983,641 (GRCm39) |
S634G |
probably benign |
Het |
| Zic1 |
G |
A |
9: 91,244,543 (GRCm39) |
T372M |
probably damaging |
Het |
|
| Other mutations in Or51aa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01707:Or51aa5
|
APN |
7 |
103,167,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Or51aa5
|
APN |
7 |
103,167,472 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02897:Or51aa5
|
APN |
7 |
103,167,337 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0167:Or51aa5
|
UTSW |
7 |
103,166,708 (GRCm39) |
nonsense |
probably null |
|
|
R0739:Or51aa5
|
UTSW |
7 |
103,166,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2992:Or51aa5
|
UTSW |
7 |
103,166,977 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4094:Or51aa5
|
UTSW |
7 |
103,167,244 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4451:Or51aa5
|
UTSW |
7 |
103,167,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4735:Or51aa5
|
UTSW |
7 |
103,167,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7585:Or51aa5
|
UTSW |
7 |
103,167,166 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8921:Or51aa5
|
UTSW |
7 |
103,167,030 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9505:Or51aa5
|
UTSW |
7 |
103,167,446 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-12-18 |
Incidental Mutation