Incidental Mutation 'R3408:Or9s23'
| ID |
258351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or9s23
|
| Ensembl Gene |
ENSMUSG00000058904 |
| Gene Name |
olfactory receptor family 9 subfamily S member 23 |
| Synonyms |
MOR208-1, Olfr1413, GA_x6K02T2R7CC-81180849-81179878 |
| MMRRC Submission |
040626-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3408 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
92500847-92501928 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92501675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 261
(T261A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074859]
[ENSMUST00000214239]
|
| AlphaFold |
Q8VGU3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000074859
AA Change: T261A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000074402
Gene: ENSMUSG00000058904
AA Change: T261A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
38 |
314 |
2.3e-50 |
PFAM |
|
Pfam:7tm_1
|
48 |
297 |
2.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181755
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185802
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214239
AA Change: T261A
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 89.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| 6430550D23Rik |
C |
T |
2: 155,845,840 (GRCm39) |
V6I |
probably benign |
Het |
| Adam17 |
T |
A |
12: 21,379,119 (GRCm39) |
K643N |
probably damaging |
Het |
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,382,827 (GRCm39) |
V1036I |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
| E2f7 |
C |
T |
10: 110,620,578 (GRCm39) |
T865M |
possibly damaging |
Het |
| Eef2 |
GCCC |
GCCCC |
10: 81,014,601 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
T |
A |
16: 21,038,254 (GRCm39) |
Y341N |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,930,223 (GRCm39) |
V241E |
probably damaging |
Het |
| Gpi1 |
A |
G |
7: 33,902,104 (GRCm39) |
V500A |
probably damaging |
Het |
| Ilk |
A |
T |
7: 105,390,181 (GRCm39) |
M155L |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,275,574 (GRCm39) |
Q6283R |
probably damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
T |
7: 97,730,294 (GRCm39) |
F758Y |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,834,029 (GRCm39) |
S49C |
probably null |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Nr5a2 |
C |
T |
1: 136,868,236 (GRCm39) |
A299T |
probably benign |
Het |
| Or10ag60 |
A |
T |
2: 87,438,220 (GRCm39) |
I163L |
probably benign |
Het |
| Or4g16 |
A |
T |
2: 111,136,850 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or51q1c |
G |
T |
7: 103,652,550 (GRCm39) |
E23* |
probably null |
Het |
| Piwil4 |
T |
C |
9: 14,637,259 (GRCm39) |
T352A |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,192,749 (GRCm39) |
T559A |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,110,526 (GRCm39) |
D153E |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,621,982 (GRCm39) |
H479L |
probably benign |
Het |
| Spmip9 |
C |
T |
6: 70,892,690 (GRCm39) |
S19N |
possibly damaging |
Het |
| Tmem150b |
G |
T |
7: 4,727,339 (GRCm39) |
F55L |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,548,148 (GRCm39) |
|
probably null |
Het |
| Vmn2r80 |
C |
T |
10: 79,004,227 (GRCm39) |
L147F |
possibly damaging |
Het |
| Vps50 |
A |
T |
6: 3,600,212 (GRCm39) |
K890N |
probably damaging |
Het |
|
| Other mutations in Or9s23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Or9s23
|
APN |
1 |
92,501,165 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01829:Or9s23
|
APN |
1 |
92,501,051 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02160:Or9s23
|
APN |
1 |
92,501,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02535:Or9s23
|
APN |
1 |
92,500,943 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03304:Or9s23
|
APN |
1 |
92,501,025 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0001:Or9s23
|
UTSW |
1 |
92,501,183 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0033:Or9s23
|
UTSW |
1 |
92,500,982 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2027:Or9s23
|
UTSW |
1 |
92,501,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2152:Or9s23
|
UTSW |
1 |
92,501,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Or9s23
|
UTSW |
1 |
92,501,379 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3407:Or9s23
|
UTSW |
1 |
92,501,675 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3951:Or9s23
|
UTSW |
1 |
92,501,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4687:Or9s23
|
UTSW |
1 |
92,501,052 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4793:Or9s23
|
UTSW |
1 |
92,501,207 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5069:Or9s23
|
UTSW |
1 |
92,501,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Or9s23
|
UTSW |
1 |
92,501,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Or9s23
|
UTSW |
1 |
92,501,544 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5411:Or9s23
|
UTSW |
1 |
92,501,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Or9s23
|
UTSW |
1 |
92,501,517 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7677:Or9s23
|
UTSW |
1 |
92,500,983 (GRCm39) |
missense |
not run |
|
|
R7832:Or9s23
|
UTSW |
1 |
92,501,219 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7860:Or9s23
|
UTSW |
1 |
92,501,810 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7984:Or9s23
|
UTSW |
1 |
92,501,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8460:Or9s23
|
UTSW |
1 |
92,501,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Or9s23
|
UTSW |
1 |
92,501,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCACTTCTACTGTGATGTGCC -3'
(R):5'- AGGCTATGTCTCTGTCCCAG -3'
Sequencing Primer
(F):5'- GTGCTGACACAACTCTCAATGAG -3'
(R):5'- TGTCCCAGCCTCCTCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation