Incidental Mutation 'R1023:Or5h19'
| ID |
94674 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h19
|
| Ensembl Gene |
ENSMUSG00000043357 |
| Gene Name |
olfactory receptor family 5 subfamily H member 19 |
| Synonyms |
Olfr187, GA_x54KRFPKG5P-55265713-55264787, MOR183-8 |
| MMRRC Submission |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58856143-58860112 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58856178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 307
(N307K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000206428]
[ENSMUST00000207673]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000054385
AA Change: N307K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000052477
Gene: ENSMUSG00000043357
AA Change: N307K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
2e-50 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
8.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206408
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206428
AA Change: N307K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207673
AA Change: N307K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Meta Mutation Damage Score |
0.1333 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| 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 |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly damaging |
Het |
|
| Other mutations in Or5h19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Or5h19
|
APN |
16 |
58,856,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Or5h19
|
UTSW |
16 |
58,856,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1086:Or5h19
|
UTSW |
16 |
58,856,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1472:Or5h19
|
UTSW |
16 |
58,856,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:Or5h19
|
UTSW |
16 |
58,856,638 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4738:Or5h19
|
UTSW |
16 |
58,856,558 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5265:Or5h19
|
UTSW |
16 |
58,856,506 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6053:Or5h19
|
UTSW |
16 |
58,856,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Or5h19
|
UTSW |
16 |
58,856,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6854:Or5h19
|
UTSW |
16 |
58,856,428 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7178:Or5h19
|
UTSW |
16 |
58,856,296 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7198:Or5h19
|
UTSW |
16 |
58,856,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7404:Or5h19
|
UTSW |
16 |
58,856,603 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7462:Or5h19
|
UTSW |
16 |
58,856,379 (GRCm39) |
nonsense |
probably null |
|
|
R7938:Or5h19
|
UTSW |
16 |
58,856,325 (GRCm39) |
nonsense |
probably null |
|
|
R8785:Or5h19
|
UTSW |
16 |
58,856,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8790:Or5h19
|
UTSW |
16 |
58,856,580 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8912:Or5h19
|
UTSW |
16 |
58,856,263 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9198:Or5h19
|
UTSW |
16 |
58,856,263 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9234:Or5h19
|
UTSW |
16 |
58,856,789 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9368:Or5h19
|
UTSW |
16 |
58,856,678 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9568:Or5h19
|
UTSW |
16 |
58,856,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Or5h19
|
UTSW |
16 |
58,856,521 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCTCCTCTGCACAGGTAAATGT -3'
(R):5'- TCTGGCTCGATCCAGGTTTTCACTA -3'
Sequencing Primer
(F):5'- CTTGCATAGCTACACTGAAAAAGAG -3'
(R):5'- AGAAAGCCTTCTCCACCTGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation