Incidental Mutation 'R6524:Or5h23'
| ID |
521623 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5h23
|
| Ensembl Gene |
ENSMUSG00000094539 |
| Gene Name |
olfactory receptor family 5 subfamily H member 23 |
| Synonyms |
Olfr191, MOR183-5P, GA_x54KRFPKG5P-55314632-55313703 |
| MMRRC Submission |
044650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58905915-58906844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58906640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 69
(V69M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078517]
[ENSMUST00000215647]
|
| AlphaFold |
L7N1Z8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078517
AA Change: V69M
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: V69M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4e-47 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.2e-16 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215647
AA Change: V69M
PolyPhen 2
Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,641 (GRCm39) |
R100G |
possibly damaging |
Het |
| Acin1 |
G |
T |
14: 54,882,740 (GRCm39) |
D237E |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| C3 |
A |
T |
17: 57,524,264 (GRCm39) |
|
probably null |
Het |
| Dnaaf2 |
A |
T |
12: 69,237,159 (GRCm39) |
C650S |
probably benign |
Het |
| Dsg2 |
T |
G |
18: 20,716,093 (GRCm39) |
F315V |
probably damaging |
Het |
| Dyrk1a |
C |
T |
16: 94,485,979 (GRCm39) |
S404L |
probably benign |
Het |
| Eefsec |
T |
C |
6: 88,274,902 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
G |
18: 10,582,188 (GRCm39) |
|
probably null |
Het |
| Fam83a |
T |
C |
15: 57,858,736 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 15,903,552 (GRCm39) |
V2981E |
probably damaging |
Het |
| H1f11-ps |
G |
A |
19: 47,158,999 (GRCm39) |
T192M |
unknown |
Het |
| Heatr5b |
A |
G |
17: 79,121,535 (GRCm39) |
L730P |
possibly damaging |
Het |
| Hgsnat |
A |
G |
8: 26,435,260 (GRCm39) |
S625P |
probably damaging |
Het |
| Itpr1 |
C |
T |
6: 108,340,644 (GRCm39) |
T84I |
probably damaging |
Het |
| Itpr2 |
T |
C |
6: 146,246,709 (GRCm39) |
N1070S |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,708,883 (GRCm39) |
F276L |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,441,187 (GRCm39) |
S2P |
unknown |
Het |
| Lbhd2 |
G |
A |
12: 111,376,724 (GRCm39) |
R57H |
probably damaging |
Het |
| Lcmt2 |
T |
C |
2: 120,969,412 (GRCm39) |
E337G |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,741,816 (GRCm39) |
E3037G |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,266,983 (GRCm39) |
E4308G |
possibly damaging |
Het |
| Med13 |
A |
G |
11: 86,192,293 (GRCm39) |
I824T |
probably damaging |
Het |
| Meiob |
G |
A |
17: 25,051,491 (GRCm39) |
V291I |
probably benign |
Het |
| Mtcl1 |
A |
T |
17: 66,655,280 (GRCm39) |
D1343E |
probably benign |
Het |
| Mybl2 |
C |
A |
2: 162,916,450 (GRCm39) |
P367Q |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,555,891 (GRCm39) |
N1680S |
probably damaging |
Het |
| Nif3l1 |
T |
C |
1: 58,496,999 (GRCm39) |
V308A |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,768,883 (GRCm39) |
R4366H |
unknown |
Het |
| Phax |
T |
A |
18: 56,720,074 (GRCm39) |
D338E |
probably damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,584,519 (GRCm39) |
|
probably null |
Het |
| Rint1 |
A |
T |
5: 24,020,737 (GRCm39) |
M529L |
probably benign |
Het |
| Scand1 |
C |
T |
2: 156,154,169 (GRCm39) |
|
probably benign |
Het |
| Six3 |
C |
T |
17: 85,929,398 (GRCm39) |
T244I |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,380,623 (GRCm39) |
S1034P |
probably benign |
Het |
| Ssu72 |
T |
G |
4: 155,799,997 (GRCm39) |
N53K |
probably null |
Het |
| Timm44 |
T |
C |
8: 4,317,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| Tspan8 |
T |
C |
10: 115,679,984 (GRCm39) |
F200L |
probably benign |
Het |
| Tyw5 |
A |
T |
1: 57,427,890 (GRCm39) |
V234D |
possibly damaging |
Het |
| Ubxn10 |
T |
A |
4: 138,448,194 (GRCm39) |
R161* |
probably null |
Het |
| Vmn2r23 |
T |
A |
6: 123,690,384 (GRCm39) |
L420Q |
probably damaging |
Het |
| Wdr1 |
A |
T |
5: 38,687,406 (GRCm39) |
D208E |
probably benign |
Het |
| Yif1a |
A |
G |
19: 5,142,204 (GRCm39) |
Y230C |
probably damaging |
Het |
|
| Other mutations in Or5h23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00951:Or5h23
|
APN |
16 |
58,906,756 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01553:Or5h23
|
APN |
16 |
58,906,685 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0233:Or5h23
|
UTSW |
16 |
58,906,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0233:Or5h23
|
UTSW |
16 |
58,906,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1367:Or5h23
|
UTSW |
16 |
58,906,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1631:Or5h23
|
UTSW |
16 |
58,906,408 (GRCm39) |
missense |
probably benign |
|
|
R1660:Or5h23
|
UTSW |
16 |
58,906,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2166:Or5h23
|
UTSW |
16 |
58,905,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2167:Or5h23
|
UTSW |
16 |
58,905,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2168:Or5h23
|
UTSW |
16 |
58,905,949 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2191:Or5h23
|
UTSW |
16 |
58,906,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3836:Or5h23
|
UTSW |
16 |
58,906,586 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4999:Or5h23
|
UTSW |
16 |
58,906,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Or5h23
|
UTSW |
16 |
58,906,253 (GRCm39) |
missense |
probably benign |
|
|
R5589:Or5h23
|
UTSW |
16 |
58,906,334 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5590:Or5h23
|
UTSW |
16 |
58,906,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5609:Or5h23
|
UTSW |
16 |
58,906,439 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5965:Or5h23
|
UTSW |
16 |
58,906,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5989:Or5h23
|
UTSW |
16 |
58,906,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Or5h23
|
UTSW |
16 |
58,906,509 (GRCm39) |
nonsense |
probably null |
|
|
R6058:Or5h23
|
UTSW |
16 |
58,906,792 (GRCm39) |
missense |
probably benign |
|
|
R6058:Or5h23
|
UTSW |
16 |
58,906,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6250:Or5h23
|
UTSW |
16 |
58,906,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Or5h23
|
UTSW |
16 |
58,906,384 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6473:Or5h23
|
UTSW |
16 |
58,906,406 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6748:Or5h23
|
UTSW |
16 |
58,906,253 (GRCm39) |
missense |
probably benign |
|
|
R6874:Or5h23
|
UTSW |
16 |
58,906,312 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9303:Or5h23
|
UTSW |
16 |
58,906,802 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGTAAAGGTTTGCATATGGCTAC -3'
(R):5'- TTCAGAGACAGCCAGTGAGG -3'
Sequencing Primer
(F):5'- CATAGCGATCATAGGCCATTGCTG -3'
(R):5'- ACACAACACTGCTCATTCAGTTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation