Incidental Mutation 'R3609:Or5p57'
| ID |
269186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5p57
|
| Ensembl Gene |
ENSMUSG00000063120 |
| Gene Name |
olfactory receptor family 5 subfamily P member 57 |
| Synonyms |
MOR204-32, GA_x6K02T2PBJ9-10395807-10394869, Olfr480 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R3609 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
107664975-107666002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 107665576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 143
(F143S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071583
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071658]
[ENSMUST00000217653]
|
| AlphaFold |
Q8VEZ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071658
AA Change: F143S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071583
Gene: ENSMUSG00000063120
AA Change: F143S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
61 |
338 |
1.7e-50 |
PFAM |
|
Pfam:7tm_1
|
71 |
320 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084760
AA Change: F113S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000081815
Gene: ENSMUSG00000063120
AA Change: F113S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.6e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.1e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217653
AA Change: F113S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifc |
A |
T |
10: 85,836,502 (GRCm39) |
M1K |
probably null |
Het |
| Cc2d2a |
A |
T |
5: 43,869,668 (GRCm39) |
E856D |
probably damaging |
Het |
| Ces1c |
A |
T |
8: 93,846,960 (GRCm39) |
I98N |
probably damaging |
Het |
| Clec4b1 |
T |
A |
6: 123,027,591 (GRCm39) |
L16Q |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,220 (GRCm39) |
Y106C |
probably damaging |
Het |
| Irak3 |
G |
T |
10: 119,981,582 (GRCm39) |
T441K |
possibly damaging |
Het |
| Kif18a |
A |
C |
2: 109,168,941 (GRCm39) |
D833A |
probably benign |
Het |
| Lypd8l |
G |
A |
11: 58,503,384 (GRCm39) |
T48I |
possibly damaging |
Het |
| Morc2b |
A |
G |
17: 33,355,252 (GRCm39) |
V840A |
probably damaging |
Het |
| Or4a47 |
A |
G |
2: 89,665,420 (GRCm39) |
S290P |
probably damaging |
Het |
| Or5al1 |
G |
A |
2: 85,989,976 (GRCm39) |
T246I |
probably benign |
Het |
| Or8k23 |
G |
C |
2: 86,185,826 (GRCm39) |
A300G |
probably damaging |
Het |
| Pgap6 |
G |
A |
17: 26,337,860 (GRCm39) |
V415I |
probably benign |
Het |
| Rest |
A |
C |
5: 77,430,647 (GRCm39) |
N1022T |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Tsc2 |
A |
C |
17: 24,841,524 (GRCm39) |
I365S |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,589,603 (GRCm39) |
R21217H |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,583,437 (GRCm39) |
H253L |
possibly damaging |
Het |
| Vmn2r71 |
T |
A |
7: 85,268,870 (GRCm39) |
C358S |
probably damaging |
Het |
|
| Other mutations in Or5p57 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00326:Or5p57
|
APN |
7 |
107,665,495 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02060:Or5p57
|
APN |
7 |
107,665,878 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02392:Or5p57
|
APN |
7 |
107,665,710 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02493:Or5p57
|
APN |
7 |
107,665,012 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02634:Or5p57
|
APN |
7 |
107,665,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
F5770:Or5p57
|
UTSW |
7 |
107,665,885 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0446:Or5p57
|
UTSW |
7 |
107,665,932 (GRCm39) |
nonsense |
probably null |
|
|
R1070:Or5p57
|
UTSW |
7 |
107,665,858 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1510:Or5p57
|
UTSW |
7 |
107,665,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Or5p57
|
UTSW |
7 |
107,665,932 (GRCm39) |
nonsense |
probably null |
|
|
R1863:Or5p57
|
UTSW |
7 |
107,665,932 (GRCm39) |
nonsense |
probably null |
|
|
R1885:Or5p57
|
UTSW |
7 |
107,665,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1886:Or5p57
|
UTSW |
7 |
107,665,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1887:Or5p57
|
UTSW |
7 |
107,665,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3921:Or5p57
|
UTSW |
7 |
107,665,108 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4259:Or5p57
|
UTSW |
7 |
107,665,100 (GRCm39) |
nonsense |
probably null |
|
|
R5276:Or5p57
|
UTSW |
7 |
107,665,423 (GRCm39) |
nonsense |
probably null |
|
|
R6224:Or5p57
|
UTSW |
7 |
107,665,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8059:Or5p57
|
UTSW |
7 |
107,665,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8229:Or5p57
|
UTSW |
7 |
107,665,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8271:Or5p57
|
UTSW |
7 |
107,664,980 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8926:Or5p57
|
UTSW |
7 |
107,665,513 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9176:Or5p57
|
UTSW |
7 |
107,665,246 (GRCm39) |
missense |
probably benign |
0.05 |
|
V7581:Or5p57
|
UTSW |
7 |
107,665,885 (GRCm39) |
missense |
probably benign |
0.11 |
|
X0021:Or5p57
|
UTSW |
7 |
107,665,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0066:Or5p57
|
UTSW |
7 |
107,665,642 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Or5p57
|
UTSW |
7 |
107,665,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCGAAGAGATTGCTGGAATG -3'
(R):5'- TGTGCTAATCAGAACCAGCCC -3'
Sequencing Primer
(F):5'- CCGAAGAGATTGCTGGAATGACTTC -3'
(R):5'- CTCAGCTTCACACCCCCATG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation