Incidental Mutation 'R6820:Or4f54'
| ID |
537552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4f54
|
| Ensembl Gene |
ENSMUSG00000068647 |
| Gene Name |
olfactory receptor family 4 subfamily F member 54 |
| Synonyms |
MOR245-11, Olfr1278, GA_x6K02T2Q125-72343713-72344654 |
| MMRRC Submission |
044932-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6820 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111122615-111123556 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111123455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 281
(P281S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090330]
[ENSMUST00000213516]
[ENSMUST00000213727]
[ENSMUST00000214669]
[ENSMUST00000215210]
[ENSMUST00000216229]
|
| AlphaFold |
Q8VF39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090330
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000087802
Gene: ENSMUSG00000068647
AA Change: P281S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
2.3e-43 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
281 |
5.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213516
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213727
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214669
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215210
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216229
AA Change: P281S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Accs |
T |
A |
2: 93,673,266 (GRCm39) |
N141Y |
probably null |
Het |
| Chkb |
A |
G |
15: 89,312,379 (GRCm39) |
L46P |
probably damaging |
Het |
| Col9a3 |
G |
A |
2: 180,248,927 (GRCm39) |
V260M |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,800,683 (GRCm39) |
I739T |
possibly damaging |
Het |
| Dnah17 |
T |
C |
11: 117,959,826 (GRCm39) |
H2620R |
probably damaging |
Het |
| Dsel |
A |
G |
1: 111,787,547 (GRCm39) |
V996A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,250,337 (GRCm39) |
L1757S |
probably damaging |
Het |
| Exoc5 |
A |
T |
14: 49,286,387 (GRCm39) |
|
probably null |
Het |
| Fam120a |
A |
T |
13: 49,034,468 (GRCm39) |
V1048E |
possibly damaging |
Het |
| Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
| Fbxw19 |
T |
A |
9: 109,311,079 (GRCm39) |
T377S |
probably benign |
Het |
| Fbxw28 |
A |
T |
9: 109,167,493 (GRCm39) |
F88Y |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,745,780 (GRCm39) |
R431Q |
possibly damaging |
Het |
| Gtsf1 |
T |
C |
15: 103,328,954 (GRCm39) |
T92A |
probably benign |
Het |
| Hoxc13 |
A |
G |
15: 102,830,257 (GRCm39) |
Y212C |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,909 (GRCm39) |
I742V |
probably benign |
Het |
| Kat7 |
T |
C |
11: 95,174,965 (GRCm39) |
T351A |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,294,497 (GRCm39) |
D1233G |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,756 (GRCm39) |
D1525G |
probably damaging |
Het |
| Nme5 |
T |
C |
18: 34,704,626 (GRCm39) |
Y73C |
probably damaging |
Het |
| Nr3c2 |
T |
C |
8: 77,969,086 (GRCm39) |
V957A |
probably damaging |
Het |
| Nup153 |
A |
G |
13: 46,863,459 (GRCm39) |
S301P |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,942,019 (GRCm39) |
D5013G |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,298 (GRCm39) |
V214A |
probably benign |
Het |
| Or8g51 |
A |
G |
9: 38,608,771 (GRCm39) |
V297A |
possibly damaging |
Het |
| Pak1 |
A |
G |
7: 97,535,586 (GRCm39) |
N226D |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,262,461 (GRCm39) |
Y384H |
probably benign |
Het |
| Pkp3 |
T |
C |
7: 140,659,757 (GRCm39) |
|
probably null |
Het |
| Prxl2b |
A |
T |
4: 154,982,623 (GRCm39) |
D50E |
probably damaging |
Het |
| Psd |
G |
T |
19: 46,309,283 (GRCm39) |
A558E |
probably damaging |
Het |
| Psmd14 |
C |
A |
2: 61,607,068 (GRCm39) |
H172N |
probably benign |
Het |
| Pygb |
G |
T |
2: 150,658,674 (GRCm39) |
W366L |
possibly damaging |
Het |
| Rbm39 |
A |
T |
2: 156,021,146 (GRCm39) |
M1K |
probably null |
Het |
| Rnf213 |
T |
C |
11: 119,339,664 (GRCm39) |
I3421T |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,932,790 (GRCm39) |
V88A |
probably damaging |
Het |
| Tha1 |
T |
C |
11: 117,762,504 (GRCm39) |
E80G |
probably benign |
Het |
| Tie1 |
A |
G |
4: 118,341,583 (GRCm39) |
V243A |
probably damaging |
Het |
| Tmem215 |
T |
C |
4: 40,473,926 (GRCm39) |
M1T |
probably null |
Het |
| Tpm2 |
A |
G |
4: 43,518,443 (GRCm39) |
Y221H |
probably damaging |
Het |
| Ubap1 |
C |
T |
4: 41,379,854 (GRCm39) |
P356L |
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,197,996 (GRCm39) |
A178S |
possibly damaging |
Het |
| Wdr54 |
A |
T |
6: 83,131,601 (GRCm39) |
S139T |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,615,555 (GRCm39) |
Q14H |
probably benign |
Het |
| Zan |
T |
C |
5: 137,406,106 (GRCm39) |
|
probably benign |
Het |
| Zfp735 |
A |
G |
11: 73,579,783 (GRCm39) |
M1V |
probably null |
Het |
|
| Other mutations in Or4f54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01109:Or4f54
|
APN |
2 |
111,122,864 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02301:Or4f54
|
APN |
2 |
111,123,042 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02480:Or4f54
|
APN |
2 |
111,122,858 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03056:Or4f54
|
APN |
2 |
111,123,517 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03327:Or4f54
|
APN |
2 |
111,122,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0284:Or4f54
|
UTSW |
2 |
111,122,931 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1614:Or4f54
|
UTSW |
2 |
111,123,411 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1698:Or4f54
|
UTSW |
2 |
111,122,905 (GRCm39) |
nonsense |
probably null |
|
|
R1733:Or4f54
|
UTSW |
2 |
111,123,210 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2265:Or4f54
|
UTSW |
2 |
111,123,524 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4857:Or4f54
|
UTSW |
2 |
111,123,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5061:Or4f54
|
UTSW |
2 |
111,122,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5208:Or4f54
|
UTSW |
2 |
111,122,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Or4f54
|
UTSW |
2 |
111,122,729 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6355:Or4f54
|
UTSW |
2 |
111,123,230 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8204:Or4f54
|
UTSW |
2 |
111,123,485 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Or4f54
|
UTSW |
2 |
111,123,503 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8991:Or4f54
|
UTSW |
2 |
111,123,348 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9493:Or4f54
|
UTSW |
2 |
111,122,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9517:Or4f54
|
UTSW |
2 |
111,123,033 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9656:Or4f54
|
UTSW |
2 |
111,122,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAGTGGGTTTATTTCCATGGG -3'
(R):5'- TGCCTCAGCATAGCAGTATTC -3'
Sequencing Primer
(F):5'- GGCACCTTTTTGTTATTGATAATCTC -3'
(R):5'- CCTCAGCATAGCAGTATTCAGTTATG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation