Incidental Mutation 'R1334:Or2a57'
| ID |
156807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2a57
|
| Ensembl Gene |
ENSMUSG00000061210 |
| Gene Name |
olfactory receptor family 2 subfamily A member 57 |
| Synonyms |
GA_x6K02T2P3E9-4322325-4321360, Olfr47, MOR261-9, IB12 |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
43212544-43213509 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43212899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078057]
[ENSMUST00000215569]
|
| AlphaFold |
Q8VF18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078057
AA Change: Y119C
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077204
Gene: ENSMUSG00000061210
AA Change: Y119C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
2.3e-62 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
4.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215569
AA Change: Y119C
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| Rgs5 |
G |
A |
1: 169,510,386 (GRCm39) |
|
probably null |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
Het |
|
| Other mutations in Or2a57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01462:Or2a57
|
APN |
6 |
43,212,559 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03277:Or2a57
|
APN |
6 |
43,212,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2697:Or2a57
|
UTSW |
6 |
43,213,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3433:Or2a57
|
UTSW |
6 |
43,212,607 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4794:Or2a57
|
UTSW |
6 |
43,212,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4954:Or2a57
|
UTSW |
6 |
43,213,318 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4993:Or2a57
|
UTSW |
6 |
43,213,390 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6248:Or2a57
|
UTSW |
6 |
43,212,838 (GRCm39) |
nonsense |
probably null |
|
|
R7464:Or2a57
|
UTSW |
6 |
43,213,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7600:Or2a57
|
UTSW |
6 |
43,212,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Or2a57
|
UTSW |
6 |
43,212,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Or2a57
|
UTSW |
6 |
43,213,013 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8430:Or2a57
|
UTSW |
6 |
43,212,894 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8967:Or2a57
|
UTSW |
6 |
43,213,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Or2a57
|
UTSW |
6 |
43,213,056 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9027:Or2a57
|
UTSW |
6 |
43,213,358 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATATGGCCTATGCCTGCAACAC -3'
(R):5'- ATCCTCAGGATTGCCACCAGGATG -3'
Sequencing Primer
(F):5'- TATGCCTGCAACACAGTGC -3'
(R):5'- CTTGAGGACAGACAGGATTTCAC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation