Incidental Mutation 'R1108:Or51f23'
| ID |
98553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51f23
|
| Ensembl Gene |
ENSMUSG00000048469 |
| Gene Name |
olfactory receptor family 51 subfamily F member 23 |
| Synonyms |
GA_x6K02T2PBJ9-5513635-5514627, MOR14-10, Olfr564 |
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
R1108 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102452687-102453637 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102453057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 124
(R124H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061096]
|
| AlphaFold |
E9PWA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061096
AA Change: R124H
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129376
Gene: ENSMUSG00000048469
AA Change: R124H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
3.6e-117 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
256 |
4.7e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
2.5e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Esrrb |
G |
A |
12: 86,552,604 (GRCm39) |
R182Q |
probably damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,692,026 (GRCm39) |
F208L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or7e174 |
A |
C |
9: 20,012,121 (GRCm39) |
D22A |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Or51f23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01392:Or51f23
|
APN |
7 |
102,453,061 (GRCm39) |
nonsense |
probably null |
|
|
IGL03248:Or51f23
|
APN |
7 |
102,452,846 (GRCm39) |
nonsense |
probably null |
|
|
R1395:Or51f23
|
UTSW |
7 |
102,453,414 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1422:Or51f23
|
UTSW |
7 |
102,453,057 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4032:Or51f23
|
UTSW |
7 |
102,453,396 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5168:Or51f23
|
UTSW |
7 |
102,453,528 (GRCm39) |
missense |
probably benign |
|
|
R5269:Or51f23
|
UTSW |
7 |
102,453,327 (GRCm39) |
missense |
probably benign |
|
|
R5639:Or51f23
|
UTSW |
7 |
102,453,200 (GRCm39) |
missense |
probably benign |
|
|
R5930:Or51f23
|
UTSW |
7 |
102,453,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Or51f23
|
UTSW |
7 |
102,453,491 (GRCm39) |
nonsense |
probably null |
|
|
R7206:Or51f23
|
UTSW |
7 |
102,452,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7254:Or51f23
|
UTSW |
7 |
102,452,765 (GRCm39) |
missense |
probably benign |
|
|
R7845:Or51f23
|
UTSW |
7 |
102,453,492 (GRCm39) |
missense |
not run |
|
|
R8036:Or51f23
|
UTSW |
7 |
102,452,763 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8730:Or51f23
|
UTSW |
7 |
102,453,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9156:Or51f23
|
UTSW |
7 |
102,453,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGCAACTGCCCTGTCAGGGAAC -3'
(R):5'- AGTGATGAAGCACATGGCTGCTAC -3'
Sequencing Primer
(F):5'- TGTCAGGGAACAGCCTGATTC -3'
(R):5'- CATGGCTGCTACAGTAGGATAATC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation