Incidental Mutation 'R7647:Or52h9'
| ID |
590589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52h9
|
| Ensembl Gene |
ENSMUSG00000073928 |
| Gene Name |
olfactory receptor family 52 subfamily H member 9 |
| Synonyms |
GA_x6K02T2PBJ9-7179540-7180481, Olfr651, MOR31-11 |
| MMRRC Submission |
045725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R7647 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104202091-104203159 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104202893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 256
(F256L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098176]
[ENSMUST00000216904]
|
| AlphaFold |
Q8VG78 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098176
AA Change: F256L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095778
Gene: ENSMUSG00000073928
AA Change: F256L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
310 |
4.1e-104 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
303 |
1e-10 |
PFAM |
|
Pfam:7tm_1
|
41 |
292 |
4.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216904
AA Change: F256L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (43/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730507C01Rik |
C |
A |
12: 18,564,803 (GRCm39) |
T22K |
possibly damaging |
Het |
| Abca7 |
G |
T |
10: 79,836,656 (GRCm39) |
M344I |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,334 (GRCm39) |
S185P |
probably damaging |
Het |
| Atg13 |
A |
T |
2: 91,519,006 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Atmin |
T |
G |
8: 117,684,661 (GRCm39) |
F774V |
possibly damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,395,863 (GRCm39) |
D782G |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,363 (GRCm39) |
S79P |
unknown |
Het |
| Cd180 |
A |
T |
13: 102,842,451 (GRCm39) |
E499V |
probably damaging |
Het |
| Cd24a |
C |
T |
10: 43,458,747 (GRCm39) |
H73Y |
unknown |
Het |
| Cdh17 |
C |
T |
4: 11,814,698 (GRCm39) |
P751L |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,056,122 (GRCm39) |
L344S |
possibly damaging |
Het |
| Cspp1 |
A |
G |
1: 10,206,162 (GRCm39) |
D1129G |
probably benign |
Het |
| Cyth1 |
C |
A |
11: 118,068,114 (GRCm39) |
V288L |
probably benign |
Het |
| Ddx19a |
A |
T |
8: 111,703,259 (GRCm39) |
|
probably null |
Het |
| Dpysl4 |
T |
A |
7: 138,679,689 (GRCm39) |
Y520N |
possibly damaging |
Het |
| Eif4b |
T |
A |
15: 101,997,129 (GRCm39) |
M249K |
unknown |
Het |
| Enam |
G |
A |
5: 88,650,884 (GRCm39) |
D798N |
probably benign |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,470 (GRCm39) |
K428E |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,096,067 (GRCm39) |
V648A |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,308 (GRCm39) |
I62V |
possibly damaging |
Het |
| Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,404,747 (GRCm39) |
S1330T |
probably benign |
Het |
| Mon2 |
G |
T |
10: 122,841,931 (GRCm39) |
P1553Q |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
| Nphs1 |
T |
A |
7: 30,181,390 (GRCm39) |
|
probably null |
Het |
| Nsd1 |
A |
G |
13: 55,447,648 (GRCm39) |
T1924A |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,888,113 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
T |
11: 58,516,029 (GRCm39) |
V281D |
probably damaging |
Het |
| Or6c213 |
A |
T |
10: 129,574,070 (GRCm39) |
C239S |
probably damaging |
Het |
| Or6c6 |
T |
C |
10: 129,187,326 (GRCm39) |
V298A |
probably benign |
Het |
| Pcsk1 |
A |
G |
13: 75,280,329 (GRCm39) |
D718G |
possibly damaging |
Het |
| Pitrm1 |
A |
T |
13: 6,605,444 (GRCm39) |
N158I |
probably damaging |
Het |
| Pkd1l1 |
C |
T |
11: 8,897,296 (GRCm39) |
V538M |
|
Het |
| Prkdc |
G |
T |
16: 15,555,807 (GRCm39) |
G2194C |
probably damaging |
Het |
| Psmc5 |
T |
C |
11: 106,152,433 (GRCm39) |
M150T |
possibly damaging |
Het |
| Rint1 |
T |
C |
5: 24,005,800 (GRCm39) |
Y161H |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,563 (GRCm39) |
K1966R |
probably damaging |
Het |
| Sgcb |
A |
T |
5: 73,796,720 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
| Sp100 |
A |
G |
1: 85,619,764 (GRCm39) |
K353E |
possibly damaging |
Het |
| Ssh1 |
T |
C |
5: 114,081,019 (GRCm39) |
T804A |
probably benign |
Het |
| Vipr1 |
T |
C |
9: 121,482,905 (GRCm39) |
L40P |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,002,255 (GRCm39) |
S2P |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,172,669 (GRCm39) |
S304P |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,924 (GRCm39) |
M664T |
probably damaging |
Het |
|
| Other mutations in Or52h9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Or52h9
|
APN |
7 |
104,202,299 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01120:Or52h9
|
APN |
7 |
104,202,552 (GRCm39) |
missense |
probably benign |
|
|
IGL01325:Or52h9
|
APN |
7 |
104,202,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01590:Or52h9
|
APN |
7 |
104,202,782 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02625:Or52h9
|
APN |
7 |
104,202,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02685:Or52h9
|
APN |
7 |
104,202,357 (GRCm39) |
missense |
probably benign |
0.35 |
|
P0157:Or52h9
|
UTSW |
7 |
104,202,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Or52h9
|
UTSW |
7 |
104,202,869 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0399:Or52h9
|
UTSW |
7 |
104,202,576 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0547:Or52h9
|
UTSW |
7 |
104,202,563 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0630:Or52h9
|
UTSW |
7 |
104,202,998 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1014:Or52h9
|
UTSW |
7 |
104,202,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1127:Or52h9
|
UTSW |
7 |
104,202,293 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1724:Or52h9
|
UTSW |
7 |
104,202,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2473:Or52h9
|
UTSW |
7 |
104,202,146 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3115:Or52h9
|
UTSW |
7 |
104,202,295 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3116:Or52h9
|
UTSW |
7 |
104,202,295 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3834:Or52h9
|
UTSW |
7 |
104,202,552 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4027:Or52h9
|
UTSW |
7 |
104,202,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4423:Or52h9
|
UTSW |
7 |
104,202,552 (GRCm39) |
missense |
probably benign |
|
|
R4907:Or52h9
|
UTSW |
7 |
104,202,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4984:Or52h9
|
UTSW |
7 |
104,202,228 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5266:Or52h9
|
UTSW |
7 |
104,203,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5592:Or52h9
|
UTSW |
7 |
104,202,938 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6441:Or52h9
|
UTSW |
7 |
104,202,542 (GRCm39) |
nonsense |
probably null |
|
|
R7463:Or52h9
|
UTSW |
7 |
104,202,689 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8276:Or52h9
|
UTSW |
7 |
104,202,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9752:Or52h9
|
UTSW |
7 |
104,202,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
X0067:Or52h9
|
UTSW |
7 |
104,202,594 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCTTTCCTCTGCAGAC -3'
(R):5'- GCTTTCAGCACACACTCATTG -3'
Sequencing Primer
(F):5'- TGCAGACATCTCTATCAACATCTGG -3'
(R):5'- CAACTGGATTTAGAGCAGG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation