Incidental Mutation 'R6741:Or5ac25'
| ID |
530466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ac25
|
| Ensembl Gene |
ENSMUSG00000095706 |
| Gene Name |
olfactory receptor family 5 subfamily AC member 25 |
| Synonyms |
MOR182-6, GA_x54KRFPKG5P-55580232-55579315, MOR182-6, Olfr207, MOR182-9, Olfr208, GA_x54KRFPKG5P-55570276-55569359, Olfr209, GA_x54KRFPKG5P-55590495-55589578 |
| MMRRC Submission |
044858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.128)
|
| Stock # |
R6741 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
59181587-59182603 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59181918 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 221
(L221P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055868]
[ENSMUST00000208246]
[ENSMUST00000208875]
[ENSMUST00000213779]
|
| AlphaFold |
L7N1X3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055868
AA Change: L221P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053192
Gene: ENSMUSG00000095706
AA Change: L221P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
304 |
1.3e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
303 |
1.3e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
6.2e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208246
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208875
AA Change: L221P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213779
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt3 |
A |
C |
3: 30,652,663 (GRCm39) |
F144V |
possibly damaging |
Het |
| Arhgef12 |
A |
G |
9: 42,883,503 (GRCm39) |
I1342T |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,629,350 (GRCm39) |
|
probably null |
Het |
| Defb12 |
T |
C |
8: 19,164,757 (GRCm39) |
E27G |
probably benign |
Het |
| Dennd2b |
A |
G |
7: 109,144,304 (GRCm39) |
Y534H |
possibly damaging |
Het |
| Dthd1 |
A |
T |
5: 63,000,289 (GRCm39) |
H537L |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,824,761 (GRCm39) |
S2359T |
unknown |
Het |
| Epha5 |
T |
C |
5: 84,254,557 (GRCm39) |
I572V |
possibly damaging |
Het |
| Grb10 |
C |
A |
11: 11,886,717 (GRCm39) |
|
probably null |
Het |
| Hectd2 |
T |
C |
19: 36,589,759 (GRCm39) |
I628T |
probably damaging |
Het |
| Il17rb |
T |
A |
14: 29,722,293 (GRCm39) |
Q246L |
possibly damaging |
Het |
| Knop1 |
C |
T |
7: 118,445,061 (GRCm39) |
R301Q |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,136,001 (GRCm39) |
I1770M |
possibly damaging |
Het |
| Mgst1 |
A |
C |
6: 138,127,836 (GRCm39) |
D66A |
probably damaging |
Het |
| Nags |
A |
G |
11: 102,037,718 (GRCm39) |
D237G |
possibly damaging |
Het |
| Nfatc2ip |
T |
A |
7: 125,995,182 (GRCm39) |
Q122L |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,694 (GRCm39) |
V72A |
probably damaging |
Het |
| Notch3 |
G |
T |
17: 32,362,458 (GRCm39) |
P1389Q |
probably benign |
Het |
| Plekhn1 |
A |
T |
4: 156,306,249 (GRCm39) |
I607N |
probably damaging |
Het |
| Plekho2 |
C |
A |
9: 65,471,197 (GRCm39) |
R84L |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,614,434 (GRCm39) |
M1329L |
probably benign |
Het |
| Prpsap2 |
C |
T |
11: 61,631,771 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,080,565 (GRCm39) |
S1230P |
probably benign |
Het |
| Rigi |
A |
G |
4: 40,211,624 (GRCm39) |
I648T |
probably damaging |
Het |
| Rptor |
T |
G |
11: 119,786,803 (GRCm39) |
L1256R |
possibly damaging |
Het |
| Sesn3 |
T |
C |
9: 14,231,636 (GRCm39) |
I189T |
possibly damaging |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc39a4 |
C |
T |
15: 76,498,283 (GRCm39) |
D385N |
probably damaging |
Het |
| Tnfsf13b |
T |
C |
8: 10,057,314 (GRCm39) |
F128S |
possibly damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,195 (GRCm39) |
V269A |
probably benign |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,724 (GRCm39) |
E83D |
probably benign |
Het |
| Vmn2r76 |
T |
C |
7: 85,879,560 (GRCm39) |
N247D |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,808,878 (GRCm39) |
S390P |
possibly damaging |
Het |
|
| Other mutations in Or5ac25 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01083:Or5ac25
|
APN |
16 |
59,182,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01137:Or5ac25
|
APN |
16 |
59,182,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01383:Or5ac25
|
APN |
16 |
59,182,316 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01913:Or5ac25
|
APN |
16 |
59,182,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01914:Or5ac25
|
APN |
16 |
59,182,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02125:Or5ac25
|
APN |
16 |
59,181,879 (GRCm39) |
missense |
probably benign |
|
|
IGL02414:Or5ac25
|
APN |
16 |
59,182,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02512:Or5ac25
|
APN |
16 |
59,182,171 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4495001:Or5ac25
|
UTSW |
16 |
59,181,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0029:Or5ac25
|
UTSW |
16 |
59,181,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0531:Or5ac25
|
UTSW |
16 |
59,182,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1799:Or5ac25
|
UTSW |
16 |
59,182,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1901:Or5ac25
|
UTSW |
16 |
59,182,526 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1902:Or5ac25
|
UTSW |
16 |
59,182,526 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1903:Or5ac25
|
UTSW |
16 |
59,182,526 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1972:Or5ac25
|
UTSW |
16 |
59,182,476 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2471:Or5ac25
|
UTSW |
16 |
59,181,944 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5013:Or5ac25
|
UTSW |
16 |
59,182,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Or5ac25
|
UTSW |
16 |
59,182,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Or5ac25
|
UTSW |
16 |
59,182,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6272:Or5ac25
|
UTSW |
16 |
59,181,948 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6296:Or5ac25
|
UTSW |
16 |
59,181,769 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6928:Or5ac25
|
UTSW |
16 |
59,181,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7982:Or5ac25
|
UTSW |
16 |
59,181,927 (GRCm39) |
missense |
probably benign |
|
|
R8254:Or5ac25
|
UTSW |
16 |
59,182,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8429:Or5ac25
|
UTSW |
16 |
59,181,990 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8857:Or5ac25
|
UTSW |
16 |
59,182,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Or5ac25
|
UTSW |
16 |
59,181,942 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9611:Or5ac25
|
UTSW |
16 |
59,182,242 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9658:Or5ac25
|
UTSW |
16 |
59,182,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Or5ac25
|
UTSW |
16 |
59,182,002 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTCTCAAGGCACCGATGAC -3'
(R):5'- TGGACTTCTACATGGTCTACTTCATG -3'
Sequencing Primer
(F):5'- ACCGATGACTTCTTTATTTCTGAGG -3'
(R):5'- GCACTGACCCATCTATCA -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation