Incidental Mutation 'R4096:Or9g3'
| ID |
317120 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or9g3
|
| Ensembl Gene |
ENSMUSG00000075210 |
| Gene Name |
olfactory receptor family 9 subfamily G member 3 |
| Synonyms |
MOR213-6, Olfr1012, GA_x6K02T2Q125-47239120-47238185 |
| MMRRC Submission |
041629-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4096 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85589783-85590718 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85590040 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 227
(I227V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099916]
[ENSMUST00000214255]
[ENSMUST00000214958]
|
| AlphaFold |
Q8VFJ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099916
AA Change: I227V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000097500
Gene: ENSMUSG00000075210
AA Change: I227V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
1.7e-47 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
8e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214255
AA Change: I227V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214958
AA Change: I227V
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (31/32) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,008 (GRCm39) |
D255G |
possibly damaging |
Het |
| 4930407I10Rik |
G |
A |
15: 81,946,406 (GRCm39) |
G101D |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,748,111 (GRCm39) |
A383V |
probably damaging |
Het |
| Cemip2 |
G |
T |
19: 21,770,016 (GRCm39) |
M1I |
probably null |
Het |
| Ctns |
A |
G |
11: 73,077,212 (GRCm39) |
M252T |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,094,264 (GRCm39) |
H2913Q |
probably damaging |
Het |
| Enox1 |
C |
T |
14: 77,815,160 (GRCm39) |
T106M |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 52,936,753 (GRCm39) |
V664E |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,942,024 (GRCm39) |
T306S |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,915,583 (GRCm39) |
I610V |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,186,084 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,534,259 (GRCm39) |
K3005R |
probably benign |
Het |
| Homer2 |
A |
G |
7: 81,261,052 (GRCm39) |
|
probably null |
Het |
| Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
| Kcnq3 |
C |
A |
15: 66,157,664 (GRCm39) |
|
probably null |
Het |
| Mad1l1 |
C |
T |
5: 140,293,428 (GRCm39) |
R130H |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,811,366 (GRCm39) |
E120G |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,537,284 (GRCm39) |
D144G |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or5m10 |
T |
C |
2: 85,717,767 (GRCm39) |
S208P |
probably damaging |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Rrp12 |
A |
G |
19: 41,875,587 (GRCm39) |
I252T |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,529,983 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc10a4-ps |
A |
G |
5: 72,743,709 (GRCm39) |
L3P |
probably damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,209 (GRCm39) |
Y463C |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,745,500 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,531,147 (GRCm39) |
T214A |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
| Zpld1 |
C |
G |
16: 55,053,881 (GRCm39) |
D304H |
probably damaging |
Het |
|
| Other mutations in Or9g3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01799:Or9g3
|
APN |
2 |
85,589,986 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02334:Or9g3
|
APN |
2 |
85,590,503 (GRCm39) |
nonsense |
probably null |
|
|
IGL03050:Or9g3
|
UTSW |
2 |
85,589,785 (GRCm39) |
makesense |
probably null |
|
|
R0399:Or9g3
|
UTSW |
2 |
85,590,248 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1730:Or9g3
|
UTSW |
2 |
85,590,586 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2142:Or9g3
|
UTSW |
2 |
85,590,021 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2185:Or9g3
|
UTSW |
2 |
85,590,363 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2412:Or9g3
|
UTSW |
2 |
85,590,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3552:Or9g3
|
UTSW |
2 |
85,590,237 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3785:Or9g3
|
UTSW |
2 |
85,589,797 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4097:Or9g3
|
UTSW |
2 |
85,590,040 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5199:Or9g3
|
UTSW |
2 |
85,590,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5206:Or9g3
|
UTSW |
2 |
85,589,967 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5444:Or9g3
|
UTSW |
2 |
85,590,263 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5567:Or9g3
|
UTSW |
2 |
85,589,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5570:Or9g3
|
UTSW |
2 |
85,589,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5956:Or9g3
|
UTSW |
2 |
85,584,183 (GRCm39) |
unclassified |
probably benign |
|
|
R6406:Or9g3
|
UTSW |
2 |
85,590,651 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7355:Or9g3
|
UTSW |
2 |
85,584,023 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7534:Or9g3
|
UTSW |
2 |
85,589,803 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7751:Or9g3
|
UTSW |
2 |
85,583,836 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8260:Or9g3
|
UTSW |
2 |
85,589,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8983:Or9g3
|
UTSW |
2 |
85,584,251 (GRCm39) |
unclassified |
probably benign |
|
|
R9025:Or9g3
|
UTSW |
2 |
85,589,879 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9373:Or9g3
|
UTSW |
2 |
85,590,275 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCATGGGGTTCAACATGGG -3'
(R):5'- AGCTATGTCACGAAGGTTGTG -3'
Sequencing Primer
(F):5'- GGTTCAACATGGGGAATAACAC -3'
(R):5'- CCTATACAGGAGGATTTGTCAATGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation