Incidental Mutation 'R4465:Or2a54'
ID |
330302 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or2a54
|
Ensembl Gene |
ENSMUSG00000094669 |
Gene Name |
olfactory receptor family 2 subfamily A member 54 |
Synonyms |
GA_x6K02T2P3E9-4442577-4441645, Olfr441, MOR261-3 |
MMRRC Submission |
041580-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R4465 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
43092678-43093610 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 43092852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 59
(Y59H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095954]
[ENSMUST00000204092]
[ENSMUST00000213649]
|
AlphaFold |
Q8VFS5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095954
AA Change: Y59H
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000093648 Gene: ENSMUSG00000094669 AA Change: Y59H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
307 |
8.6e-60 |
PFAM |
Pfam:7tm_1
|
40 |
289 |
3.5e-26 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204092
AA Change: Y59H
|
SMART Domains |
Protein: ENSMUSP00000144691 Gene: ENSMUSG00000073110 AA Change: Y59H
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
307 |
8.6e-60 |
PFAM |
Pfam:7tm_1
|
40 |
289 |
3.5e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000213649
AA Change: Y59H
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
Stag2 |
A |
G |
X: 41,322,749 (GRCm39) |
S400G |
probably benign |
Homo |
Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
Other mutations in Or2a54 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0470:Or2a54
|
UTSW |
6 |
43,093,558 (GRCm39) |
missense |
probably null |
0.04 |
R0528:Or2a54
|
UTSW |
6 |
43,093,150 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1441:Or2a54
|
UTSW |
6 |
43,092,880 (GRCm39) |
missense |
probably benign |
0.02 |
R2048:Or2a54
|
UTSW |
6 |
43,093,312 (GRCm39) |
missense |
probably benign |
0.00 |
R2191:Or2a54
|
UTSW |
6 |
43,092,999 (GRCm39) |
missense |
probably benign |
0.13 |
R4438:Or2a54
|
UTSW |
6 |
43,093,221 (GRCm39) |
missense |
probably benign |
0.09 |
R5191:Or2a54
|
UTSW |
6 |
43,092,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6353:Or2a54
|
UTSW |
6 |
43,093,070 (GRCm39) |
nonsense |
probably null |
|
R6719:Or2a54
|
UTSW |
6 |
43,092,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R8297:Or2a54
|
UTSW |
6 |
43,093,440 (GRCm39) |
missense |
probably benign |
0.39 |
R8850:Or2a54
|
UTSW |
6 |
43,092,905 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1177:Or2a54
|
UTSW |
6 |
43,093,169 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCCAATCAGACATGGATC -3'
(R):5'- TCCAGCTCATGATGACAGTGTAG -3'
Sequencing Primer
(F):5'- GACATGGATCACAGAGGTCACTC -3'
(R):5'- CAGCTCATGATGACAGTGTAGTGAAG -3'
|
Posted On |
2015-07-21 |