Incidental Mutation 'R4287:Or5h18'
| ID |
322076 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h18
|
| Ensembl Gene |
ENSMUSG00000047960 |
| Gene Name |
olfactory receptor family 5 subfamily H member 18 |
| Synonyms |
Olfr186, GA_x54KRFPKG5P-55257214-55256285, MOR183-9 |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58847286-58848290 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58847976 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 98
(M98K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150366
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062380]
[ENSMUST00000206463]
[ENSMUST00000216415]
|
| AlphaFold |
Q8VEX5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062380
AA Change: M98K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000056448
Gene: ENSMUSG00000047960
AA Change: M98K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
9.4e-49 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206463
AA Change: M98K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216415
AA Change: M98K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.1283 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,938,664 (GRCm39) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,973,722 (GRCm39) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,043 (GRCm39) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,544,853 (GRCm39) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 154,796,997 (GRCm39) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,752,539 (GRCm39) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,328,123 (GRCm39) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,555,184 (GRCm39) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,106,845 (GRCm39) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,311,265 (GRCm39) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,684,742 (GRCm39) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 101,914,289 (GRCm39) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,040,632 (GRCm39) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,541,130 (GRCm39) |
I107V |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,118,956 (GRCm39) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,441,335 (GRCm39) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,908,992 (GRCm39) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 38,115,907 (GRCm39) |
T1089S |
probably benign |
Het |
| Rrs1 |
C |
T |
1: 9,616,440 (GRCm39) |
S231L |
probably damaging |
Het |
| Rrs1 |
C |
T |
1: 9,616,448 (GRCm39) |
R234C |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,379,057 (GRCm39) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,902,276 (GRCm39) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,617,904 (GRCm39) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,828,268 (GRCm39) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm39) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,586,951 (GRCm39) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 56,960,985 (GRCm39) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,207,039 (GRCm39) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 29,209,824 (GRCm39) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,337 (GRCm39) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,211,110 (GRCm39) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,619,088 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or5h18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Or5h18
|
APN |
16 |
58,848,216 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00969:Or5h18
|
APN |
16 |
58,847,994 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL01102:Or5h18
|
APN |
16 |
58,848,192 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01348:Or5h18
|
APN |
16 |
58,848,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01399:Or5h18
|
APN |
16 |
58,847,629 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02088:Or5h18
|
APN |
16 |
58,847,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0047:Or5h18
|
UTSW |
16 |
58,847,587 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0479:Or5h18
|
UTSW |
16 |
58,847,491 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0866:Or5h18
|
UTSW |
16 |
58,847,791 (GRCm39) |
missense |
probably benign |
|
|
R0926:Or5h18
|
UTSW |
16 |
58,848,051 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1760:Or5h18
|
UTSW |
16 |
58,847,350 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1955:Or5h18
|
UTSW |
16 |
58,847,774 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2085:Or5h18
|
UTSW |
16 |
58,848,232 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2118:Or5h18
|
UTSW |
16 |
58,848,178 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4156:Or5h18
|
UTSW |
16 |
58,847,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Or5h18
|
UTSW |
16 |
58,848,260 (GRCm39) |
missense |
probably benign |
|
|
R4885:Or5h18
|
UTSW |
16 |
58,847,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4947:Or5h18
|
UTSW |
16 |
58,847,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4965:Or5h18
|
UTSW |
16 |
58,847,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Or5h18
|
UTSW |
16 |
58,847,820 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7624:Or5h18
|
UTSW |
16 |
58,847,382 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7683:Or5h18
|
UTSW |
16 |
58,847,469 (GRCm39) |
missense |
probably benign |
|
|
R8197:Or5h18
|
UTSW |
16 |
58,847,448 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9048:Or5h18
|
UTSW |
16 |
58,847,598 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9117:Or5h18
|
UTSW |
16 |
58,847,653 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9309:Or5h18
|
UTSW |
16 |
58,848,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9444:Or5h18
|
UTSW |
16 |
58,848,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAAGCCACCTATGAATACTG -3'
(R):5'- ATCATCAAGGGCTGCAGGTG -3'
Sequencing Primer
(F):5'- CCTATGAATACTGAAACTAGTAGGCG -3'
(R):5'- ATATCTCATCACTGTTGTGGGGAAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation