Incidental Mutation 'R6595:Or4f57'
| ID |
524840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4f57
|
| Ensembl Gene |
ENSMUSG00000074952 |
| Gene Name |
olfactory receptor family 4 subfamily F member 57 |
| Synonyms |
MOR245-22, Olfr1308, GA_x6K02T2Q125-73008844-73007882 |
| MMRRC Submission |
044719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R6595 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111790454-111791416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111790515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 301
(V301E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099605]
[ENSMUST00000207560]
|
| AlphaFold |
Q7TQX0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099605
AA Change: V301E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097200
Gene: ENSMUSG00000074952
AA Change: V301E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
2.2e-39 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
3.1e-23 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000207560
AA Change: V301E
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.5%
|
| Validation Efficiency |
97% (37/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
A |
T |
7: 119,993,710 (GRCm39) |
Y1310F |
probably benign |
Het |
| Ankrd54 |
A |
G |
15: 78,942,185 (GRCm39) |
F148L |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,528 (GRCm39) |
D224N |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Camk2b |
A |
T |
11: 5,942,856 (GRCm39) |
H126Q |
probably damaging |
Het |
| Camsap3 |
G |
T |
8: 3,654,186 (GRCm39) |
V608L |
probably damaging |
Het |
| Camsap3 |
A |
T |
8: 3,658,742 (GRCm39) |
M796L |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,853,517 (GRCm39) |
D308G |
probably benign |
Het |
| Cfap299 |
A |
T |
5: 98,949,717 (GRCm39) |
D217V |
possibly damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,486,710 (GRCm39) |
I275M |
probably damaging |
Het |
| Cuta |
A |
G |
17: 27,157,856 (GRCm39) |
|
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,699,374 (GRCm39) |
|
probably benign |
Het |
| Dst |
T |
G |
1: 34,289,761 (GRCm39) |
L784R |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,184,750 (GRCm39) |
M1681V |
possibly damaging |
Het |
| Fbxo9 |
A |
T |
9: 77,994,494 (GRCm39) |
D274E |
probably damaging |
Het |
| Frem2 |
T |
A |
3: 53,457,205 (GRCm39) |
D2049V |
probably damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,174 (GRCm39) |
Y115H |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,655,603 (GRCm39) |
D46E |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,247 (GRCm39) |
Y110C |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 939,829 (GRCm39) |
S994P |
probably benign |
Homo |
| Klhl2 |
A |
T |
8: 65,196,077 (GRCm39) |
C555* |
probably null |
Het |
| Krtap4-7 |
A |
T |
11: 99,534,560 (GRCm39) |
I101N |
unknown |
Het |
| Or13a27 |
A |
G |
7: 139,925,560 (GRCm39) |
L114P |
probably damaging |
Het |
| Pcdhb21 |
T |
C |
18: 37,648,961 (GRCm39) |
S697P |
probably damaging |
Het |
| Pramel27 |
T |
C |
4: 143,579,326 (GRCm39) |
C304R |
probably damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,167,361 (GRCm39) |
H237Q |
probably damaging |
Het |
| Rnf216 |
A |
T |
5: 143,076,412 (GRCm39) |
D157E |
probably benign |
Het |
| Rxrg |
T |
A |
1: 167,454,905 (GRCm39) |
F163I |
probably damaging |
Het |
| Soat2 |
T |
A |
15: 102,069,028 (GRCm39) |
I351N |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,132,047 (GRCm39) |
T242I |
probably benign |
Het |
| Svopl |
T |
C |
6: 38,018,002 (GRCm39) |
|
probably null |
Het |
| Tbc1d2b |
G |
A |
9: 90,108,145 (GRCm39) |
P469S |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,578 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,295,523 (GRCm39) |
V324A |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,998,931 (GRCm39) |
V557A |
probably damaging |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,889 (GRCm39) |
T535I |
probably damaging |
Het |
| Zc3h14 |
T |
A |
12: 98,723,285 (GRCm39) |
S85T |
probably damaging |
Het |
|
| Other mutations in Or4f57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Or4f57
|
APN |
2 |
111,790,620 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01359:Or4f57
|
APN |
2 |
111,791,406 (GRCm39) |
missense |
probably benign |
|
|
IGL01731:Or4f57
|
APN |
2 |
111,790,980 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01788:Or4f57
|
APN |
2 |
111,791,352 (GRCm39) |
missense |
probably benign |
|
|
IGL02385:Or4f57
|
APN |
2 |
111,790,603 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02969:Or4f57
|
APN |
2 |
111,790,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Or4f57
|
UTSW |
2 |
111,790,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Or4f57
|
UTSW |
2 |
111,790,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Or4f57
|
UTSW |
2 |
111,791,361 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0265:Or4f57
|
UTSW |
2 |
111,790,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1268:Or4f57
|
UTSW |
2 |
111,791,222 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1406:Or4f57
|
UTSW |
2 |
111,790,926 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1406:Or4f57
|
UTSW |
2 |
111,790,926 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1568:Or4f57
|
UTSW |
2 |
111,790,585 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2401:Or4f57
|
UTSW |
2 |
111,790,494 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4396:Or4f57
|
UTSW |
2 |
111,790,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4528:Or4f57
|
UTSW |
2 |
111,791,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Or4f57
|
UTSW |
2 |
111,791,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6332:Or4f57
|
UTSW |
2 |
111,791,091 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7339:Or4f57
|
UTSW |
2 |
111,790,956 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7917:Or4f57
|
UTSW |
2 |
111,791,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8017:Or4f57
|
UTSW |
2 |
111,790,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8092:Or4f57
|
UTSW |
2 |
111,790,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8246:Or4f57
|
UTSW |
2 |
111,790,483 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9389:Or4f57
|
UTSW |
2 |
111,790,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Or4f57
|
UTSW |
2 |
111,790,584 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9631:Or4f57
|
UTSW |
2 |
111,791,377 (GRCm39) |
missense |
probably benign |
0.13 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTCCTTCAGAGAGATATTTGTC -3'
(R):5'- CACTTTCAGCTCATGTTATGGTGG -3'
Sequencing Primer
(F):5'- TCCTTCAGAGAGATATTTGTCTGTAC -3'
(R):5'- CAGCTCATGTTATGGTGGTTGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation