Incidental Mutation 'R4380:Or5ac15'
| ID |
325310 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ac15
|
| Ensembl Gene |
ENSMUSG00000063020 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 15 |
| Synonyms |
MOR182-13, MOR182-7P, GA_x54KRFPKG5P-55348161-55347241, Olfr194 |
| MMRRC Submission |
041678-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R4380 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
58939511-58940431 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58940027 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 135
(M135I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072608]
[ENSMUST00000213228]
[ENSMUST00000216519]
|
| AlphaFold |
L7N1Y8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072608
AA Change: M135I
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072407
Gene: ENSMUSG00000063020
AA Change: M135I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
1.7e-47 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213228
AA Change: M135I
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216519
AA Change: M135I
PolyPhen 2
Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (45/46) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
T |
C |
7: 44,326,580 (GRCm39) |
|
noncoding transcript |
Het |
| Casc3 |
C |
A |
11: 98,713,857 (GRCm39) |
P363Q |
possibly damaging |
Het |
| Cep162 |
C |
A |
9: 87,082,056 (GRCm39) |
R1283L |
probably damaging |
Het |
| Clk3 |
C |
A |
9: 57,659,075 (GRCm39) |
W562L |
probably damaging |
Het |
| Col17a1 |
G |
A |
19: 47,645,529 (GRCm39) |
T844M |
possibly damaging |
Het |
| Dntt |
G |
C |
19: 41,041,672 (GRCm39) |
G452A |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,513,120 (GRCm39) |
V20I |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
| Dync1li2 |
A |
T |
8: 105,154,798 (GRCm39) |
I270N |
probably damaging |
Het |
| Egflam |
A |
T |
15: 7,273,350 (GRCm39) |
I575N |
possibly damaging |
Het |
| Gldc |
G |
T |
19: 30,138,168 (GRCm39) |
|
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,357,462 (GRCm39) |
V347L |
probably benign |
Het |
| Gmds |
T |
A |
13: 32,101,679 (GRCm39) |
N304I |
probably benign |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,895,509 (GRCm39) |
T1686A |
probably benign |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamb3 |
A |
T |
1: 193,013,683 (GRCm39) |
Q519L |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,248,285 (GRCm39) |
|
probably benign |
Het |
| Mcfd2 |
C |
G |
17: 87,565,387 (GRCm39) |
G39R |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,041,219 (GRCm39) |
H125R |
probably damaging |
Het |
| Nme7 |
A |
G |
1: 164,172,807 (GRCm39) |
T173A |
probably benign |
Het |
| Or4s2b |
A |
G |
2: 88,508,615 (GRCm39) |
T132A |
possibly damaging |
Het |
| Pde1c |
T |
A |
6: 56,049,263 (GRCm39) |
R683S |
probably null |
Het |
| Pkn2 |
A |
T |
3: 142,536,217 (GRCm39) |
|
probably benign |
Het |
| Plppr4 |
T |
G |
3: 117,116,046 (GRCm39) |
T604P |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,424,856 (GRCm39) |
I196F |
probably benign |
Het |
| Slc34a2 |
C |
T |
5: 53,226,628 (GRCm39) |
P584S |
probably damaging |
Het |
| Slco5a1 |
A |
T |
1: 13,009,392 (GRCm39) |
M361K |
probably damaging |
Het |
| Snx4 |
T |
A |
16: 33,084,666 (GRCm39) |
I60N |
probably damaging |
Het |
| Sp6 |
T |
C |
11: 96,912,572 (GRCm39) |
L95P |
probably damaging |
Het |
| Stat5b |
A |
G |
11: 100,678,175 (GRCm39) |
F646S |
probably damaging |
Het |
| Tbc1d1 |
T |
C |
5: 64,490,891 (GRCm39) |
M785T |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,235,935 (GRCm39) |
C365S |
probably damaging |
Het |
| Tle1 |
ACAGGTTTCTTCAGGTTTCTT |
ACAGGTTTCTT |
4: 72,036,400 (GRCm39) |
|
probably benign |
Het |
| Tnfsf8 |
A |
T |
4: 63,779,264 (GRCm39) |
C11* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,748,485 (GRCm39) |
V4188E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,275,753 (GRCm39) |
H366L |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,101,442 (GRCm39) |
|
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,683,022 (GRCm39) |
Y3487C |
unknown |
Het |
| Zfp28 |
C |
T |
7: 6,396,441 (GRCm39) |
T292I |
probably benign |
Het |
|
| Other mutations in Or5ac15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01807:Or5ac15
|
APN |
16 |
58,939,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02098:Or5ac15
|
APN |
16 |
58,940,433 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02276:Or5ac15
|
APN |
16 |
58,940,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03122:Or5ac15
|
APN |
16 |
58,939,801 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0781:Or5ac15
|
UTSW |
16 |
58,940,187 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1162:Or5ac15
|
UTSW |
16 |
58,939,735 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1526:Or5ac15
|
UTSW |
16 |
58,940,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1654:Or5ac15
|
UTSW |
16 |
58,940,052 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4379:Or5ac15
|
UTSW |
16 |
58,940,027 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5768:Or5ac15
|
UTSW |
16 |
58,940,335 (GRCm39) |
small deletion |
probably benign |
|
|
R5771:Or5ac15
|
UTSW |
16 |
58,940,335 (GRCm39) |
small deletion |
probably benign |
|
|
R5942:Or5ac15
|
UTSW |
16 |
58,940,039 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Or5ac15
|
UTSW |
16 |
58,940,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6539:Or5ac15
|
UTSW |
16 |
58,940,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6621:Or5ac15
|
UTSW |
16 |
58,940,287 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7642:Or5ac15
|
UTSW |
16 |
58,940,011 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8308:Or5ac15
|
UTSW |
16 |
58,939,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8863:Or5ac15
|
UTSW |
16 |
58,939,712 (GRCm39) |
nonsense |
probably null |
|
|
RF009:Or5ac15
|
UTSW |
16 |
58,940,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Or5ac15
|
UTSW |
16 |
58,939,735 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAACAGCTTGTATCACAGCAG -3'
(R):5'- AGTGACTCCCAGGATGCTTG -3'
Sequencing Primer
(F):5'- CCACAAATGCATTAATAGATGGGTCG -3'
(R):5'- GACTCCCAGGATGCTTGTTAATATC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation