Incidental Mutation 'R4568:Or9s15'
| ID |
341933 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or9s15
|
| Ensembl Gene |
ENSMUSG00000062497 |
| Gene Name |
olfactory receptor family 9 subfamily S member 15 |
| Synonyms |
Olfr1411, MOR208-3, GA_x6K02T2R7CC-81157497-81156526 |
| MMRRC Submission |
041792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4568 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
92524243-92525214 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92525113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 291
(M291L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073748]
[ENSMUST00000190844]
[ENSMUST00000216444]
|
| AlphaFold |
Q8VFC4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073748
AA Change: M291L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073422
Gene: ENSMUSG00000062497
AA Change: M291L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
38 |
314 |
7.4e-53 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
1.2e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190844
AA Change: M291L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000140373
Gene: ENSMUSG00000062497
AA Change: M291L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
48 |
297 |
6.7e-25 |
PFAM |
|
Pfam:7tm_4
|
146 |
290 |
2.9e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216444
AA Change: M291L
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm2 |
T |
A |
7: 119,162,740 (GRCm39) |
W5R |
probably benign |
Het |
| Bik |
T |
C |
15: 83,425,645 (GRCm39) |
|
probably null |
Het |
| Col6a1 |
A |
T |
10: 76,555,031 (GRCm39) |
|
probably benign |
Het |
| Crem |
A |
G |
18: 3,299,175 (GRCm39) |
I83T |
probably damaging |
Het |
| Csn1s1 |
G |
A |
5: 87,828,763 (GRCm39) |
V276I |
possibly damaging |
Het |
| Ctnna3 |
C |
T |
10: 63,688,588 (GRCm39) |
T344M |
possibly damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,098,258 (GRCm39) |
P378S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gpr139 |
C |
T |
7: 118,744,028 (GRCm39) |
V186M |
probably damaging |
Het |
| Krba1 |
A |
G |
6: 48,386,657 (GRCm39) |
T422A |
probably damaging |
Het |
| Lgals8 |
T |
G |
13: 12,468,254 (GRCm39) |
Y125S |
probably damaging |
Het |
| Map4k1 |
G |
A |
7: 28,686,079 (GRCm39) |
G107D |
probably damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,702,448 (GRCm39) |
Y599* |
probably null |
Het |
| Omt2b |
T |
A |
9: 78,235,529 (GRCm39) |
|
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,256,035 (GRCm39) |
E180G |
probably damaging |
Het |
| Pga5 |
A |
G |
19: 10,649,216 (GRCm39) |
Y235H |
probably damaging |
Het |
| Phldb2 |
T |
A |
16: 45,598,081 (GRCm39) |
K869* |
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,972,355 (GRCm39) |
M268V |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,717,977 (GRCm39) |
D624G |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,129,873 (GRCm39) |
I1817F |
probably damaging |
Het |
| Psmg3 |
A |
G |
5: 139,812,004 (GRCm39) |
I32T |
probably damaging |
Het |
| Ptpn4 |
T |
C |
1: 119,607,789 (GRCm39) |
E757G |
probably damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Ripply3 |
T |
A |
16: 94,136,688 (GRCm39) |
D116E |
probably damaging |
Het |
| Robo4 |
T |
C |
9: 37,316,118 (GRCm39) |
V263A |
possibly damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Spef2 |
T |
C |
15: 9,647,303 (GRCm39) |
H1008R |
probably damaging |
Het |
| Stag1 |
T |
C |
9: 100,730,722 (GRCm39) |
V379A |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,198,658 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,806 (GRCm39) |
E1121G |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,268,710 (GRCm39) |
|
probably benign |
Het |
| Trpv6 |
G |
T |
6: 41,603,503 (GRCm39) |
P206H |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,583,250 (GRCm39) |
|
probably null |
Het |
| Vmn2r65 |
C |
T |
7: 84,596,677 (GRCm39) |
C126Y |
probably damaging |
Het |
|
| Other mutations in Or9s15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Or9s15
|
APN |
1 |
92,524,922 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02011:Or9s15
|
APN |
1 |
92,524,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4810001:Or9s15
|
UTSW |
1 |
92,524,876 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2036:Or9s15
|
UTSW |
1 |
92,524,328 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2044:Or9s15
|
UTSW |
1 |
92,524,691 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4133:Or9s15
|
UTSW |
1 |
92,524,465 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4406:Or9s15
|
UTSW |
1 |
92,525,036 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4701:Or9s15
|
UTSW |
1 |
92,525,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4801:Or9s15
|
UTSW |
1 |
92,524,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4802:Or9s15
|
UTSW |
1 |
92,524,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6564:Or9s15
|
UTSW |
1 |
92,524,285 (GRCm39) |
missense |
probably benign |
|
|
R7082:Or9s15
|
UTSW |
1 |
92,524,140 (GRCm39) |
start gained |
probably benign |
|
|
R7349:Or9s15
|
UTSW |
1 |
92,524,904 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7589:Or9s15
|
UTSW |
1 |
92,524,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8816:Or9s15
|
UTSW |
1 |
92,524,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9051:Or9s15
|
UTSW |
1 |
92,524,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9267:Or9s15
|
UTSW |
1 |
92,524,996 (GRCm39) |
missense |
probably benign |
|
|
R9267:Or9s15
|
UTSW |
1 |
92,524,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or9s15
|
UTSW |
1 |
92,524,988 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCAGGATGCACTCGGG -3'
(R):5'- GATGGTTACATGGACTAAACAATGG -3'
Sequencing Primer
(F):5'- GATCTGGGAGGCACAAGGTCTTC -3'
(R):5'- TACATGGACTAAACAATGGAGGAAAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation