Incidental Mutation 'R6473:Or5h23'
| ID |
520368 |
| 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 |
044606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R6473 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58905915-58906844 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 58906406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 147
(L147M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078517]
[ENSMUST00000215647]
|
| AlphaFold |
L7N1Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078517
AA Change: L147M
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000077604
Gene: ENSMUSG00000094539
AA Change: L147M
| 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 |
probably benign
Transcript: ENSMUST00000215647
AA Change: L147M
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.9%
- 20x: 89.9%
|
| Validation Efficiency |
95% (36/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
T |
C |
16: 85,596,531 (GRCm39) |
D106G |
probably damaging |
Het |
| Adat3 |
A |
G |
10: 80,442,801 (GRCm39) |
D213G |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,628,694 (GRCm39) |
D32G |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,002,962 (GRCm39) |
R61* |
probably null |
Het |
| Ash2l |
T |
A |
8: 26,325,008 (GRCm39) |
T184S |
probably damaging |
Het |
| B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
| Chmp2b |
C |
T |
16: 65,343,758 (GRCm39) |
G96S |
probably damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,675,968 (GRCm39) |
N248S |
probably benign |
Het |
| Cyp46a1 |
G |
T |
12: 108,321,734 (GRCm39) |
R320L |
possibly damaging |
Het |
| Dact1 |
A |
G |
12: 71,364,472 (GRCm39) |
T418A |
probably benign |
Het |
| Ddx3y |
T |
C |
Y: 1,265,971 (GRCm39) |
Y342C |
possibly damaging |
Homo |
| Dnm3 |
T |
A |
1: 162,305,274 (GRCm39) |
Q40L |
probably damaging |
Het |
| Eif2s1 |
T |
C |
12: 78,927,999 (GRCm39) |
I225T |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,456,096 (GRCm39) |
I795N |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,687 (GRCm39) |
|
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Idh3b |
AG |
AGCACCACAACTG |
2: 130,121,593 (GRCm39) |
|
probably null |
Het |
| Kalrn |
A |
G |
16: 34,025,672 (GRCm39) |
I551T |
probably damaging |
Het |
| Madd |
T |
C |
2: 90,997,404 (GRCm39) |
T755A |
probably benign |
Het |
| Mrps31 |
A |
G |
8: 22,904,881 (GRCm39) |
D90G |
probably benign |
Het |
| Or14j4 |
T |
A |
17: 37,920,887 (GRCm39) |
T252S |
possibly damaging |
Het |
| P2ry12 |
T |
A |
3: 59,124,932 (GRCm39) |
I248F |
probably benign |
Het |
| Ptgfrn |
T |
C |
3: 100,952,955 (GRCm39) |
R760G |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Slpi |
T |
C |
2: 164,196,846 (GRCm39) |
Y116C |
probably damaging |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,669 (GRCm39) |
E425V |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,906,058 (GRCm39) |
S281P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,317,792 (GRCm39) |
M1V |
probably null |
Het |
| Usp16 |
G |
A |
16: 87,280,023 (GRCm39) |
S741N |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,336,419 (GRCm39) |
|
probably null |
Het |
| Vipr1 |
T |
C |
9: 121,497,621 (GRCm39) |
S380P |
probably damaging |
Het |
| Vmn1r21 |
A |
T |
6: 57,820,583 (GRCm39) |
I287K |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,188 (GRCm39) |
C129R |
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 |
|
R6524:Or5h23
|
UTSW |
16 |
58,906,640 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
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'- TGTGAAGACCTGAATTGAGCC -3'
(R):5'- GTGACACCAAAGATGCTACAAG -3'
Sequencing Primer
(F):5'- TTGAGCCAGAGAAAATAAAGAGCATC -3'
(R):5'- TTTCCAAGAGTAAACTGATCTCTTTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation