Incidental Mutation 'R0070:Or2h15'
| ID |
16291 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2h15
|
| Ensembl Gene |
ENSMUSG00000067186 |
| Gene Name |
olfactory receptor family 2 subfamily H member 15 |
| Synonyms |
Olfr132, MOR256-49, GA_x6K02T2PSCP-2579687-2578746 |
| MMRRC Submission |
038361-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R0070 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38441140-38442081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 38441780 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 101
(L101P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087128]
[ENSMUST00000216804]
|
| AlphaFold |
Q7TRI8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087128
AA Change: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084368
Gene: ENSMUSG00000067186
AA Change: L101P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
25 |
244 |
3.1e-6 |
PFAM |
|
Pfam:7tm_4
|
31 |
308 |
4.6e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.9e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.1e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216804
AA Change: L101P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217361
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 88.0%
- 3x: 83.9%
- 10x: 69.3%
- 20x: 41.9%
|
| Validation Efficiency |
88% (67/76) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
| Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
| AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
| Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
| Gm2027 |
T |
A |
12: 44,269,145 (GRCm39) |
|
probably benign |
Het |
| Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
| Hykk |
T |
A |
9: 54,829,632 (GRCm39) |
|
probably benign |
Het |
| Kansl1l |
T |
C |
1: 66,840,262 (GRCm39) |
D346G |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
| Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
| Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,220,462 (GRCm39) |
E1669G |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
| Or5p51 |
T |
G |
7: 107,444,124 (GRCm39) |
D272A |
probably damaging |
Het |
| Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
| Pi4k2b |
A |
C |
5: 52,914,260 (GRCm39) |
D309A |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
| Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
| Sin3b |
T |
A |
8: 73,452,210 (GRCm39) |
H105Q |
probably damaging |
Het |
| Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
| Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
| Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
| Taok1 |
T |
A |
11: 77,444,543 (GRCm39) |
M511L |
probably benign |
Het |
| Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem147 |
T |
C |
7: 30,427,526 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
| Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
| Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
| Zscan20 |
C |
T |
4: 128,479,675 (GRCm39) |
V939I |
possibly damaging |
Het |
|
| Other mutations in Or2h15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02276:Or2h15
|
APN |
17 |
38,441,484 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02659:Or2h15
|
APN |
17 |
38,441,427 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL02831:Or2h15
|
APN |
17 |
38,441,403 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0070:Or2h15
|
UTSW |
17 |
38,441,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Or2h15
|
UTSW |
17 |
38,441,984 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R2697:Or2h15
|
UTSW |
17 |
38,441,900 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4694:Or2h15
|
UTSW |
17 |
38,441,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4883:Or2h15
|
UTSW |
17 |
38,441,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4933:Or2h15
|
UTSW |
17 |
38,441,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Or2h15
|
UTSW |
17 |
38,441,468 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5058:Or2h15
|
UTSW |
17 |
38,441,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5653:Or2h15
|
UTSW |
17 |
38,442,075 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5946:Or2h15
|
UTSW |
17 |
38,441,598 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7083:Or2h15
|
UTSW |
17 |
38,441,601 (GRCm39) |
missense |
probably benign |
|
|
R7226:Or2h15
|
UTSW |
17 |
38,441,324 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7391:Or2h15
|
UTSW |
17 |
38,441,941 (GRCm39) |
missense |
probably benign |
|
|
R8297:Or2h15
|
UTSW |
17 |
38,441,484 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8378:Or2h15
|
UTSW |
17 |
38,441,678 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8425:Or2h15
|
UTSW |
17 |
38,441,927 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8554:Or2h15
|
UTSW |
17 |
38,441,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9223:Or2h15
|
UTSW |
17 |
38,442,012 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9278:Or2h15
|
UTSW |
17 |
38,441,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation