Incidental Mutation 'R8468:Or12e10'
| ID |
656903 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12e10
|
| Ensembl Gene |
ENSMUSG00000068814 |
| Gene Name |
olfactory receptor family 12 subfamily E member 10 |
| Synonyms |
Olfr1145, GA_x6K02T2Q125-49311440-49312384, MOR264-19 |
| MMRRC Submission |
067912-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R8468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87640166-87641143 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87641082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 306
(I306T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088209
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079711]
[ENSMUST00000090707]
|
| AlphaFold |
A2AVC7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000079711
AA Change: I295T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000078649
Gene: ENSMUSG00000068814
AA Change: I295T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
3.4e-52 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
1.3e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090707
AA Change: I306T
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000088209
Gene: ENSMUSG00000068814
AA Change: I306T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
38 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
48 |
325 |
6.2e-58 |
PFAM |
|
Pfam:7tm_1
|
58 |
307 |
1.5e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
| Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
| BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
| Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,273,601 (GRCm39) |
V17A |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,295 (GRCm39) |
L203H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
| Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
| Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Miip |
G |
T |
4: 147,945,928 (GRCm39) |
D325E |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,675,548 (GRCm39) |
R811K |
possibly damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,418,046 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
| Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
| Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
probably benign |
Het |
|
| Other mutations in Or12e10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00901:Or12e10
|
APN |
2 |
87,640,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01335:Or12e10
|
APN |
2 |
87,640,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Or12e10
|
UTSW |
2 |
87,640,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1512:Or12e10
|
UTSW |
2 |
87,640,988 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1700:Or12e10
|
UTSW |
2 |
87,641,112 (GRCm39) |
missense |
probably benign |
|
|
R2127:Or12e10
|
UTSW |
2 |
87,640,685 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2162:Or12e10
|
UTSW |
2 |
87,640,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3707:Or12e10
|
UTSW |
2 |
87,640,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4327:Or12e10
|
UTSW |
2 |
87,640,496 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4422:Or12e10
|
UTSW |
2 |
87,640,989 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4854:Or12e10
|
UTSW |
2 |
87,640,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5234:Or12e10
|
UTSW |
2 |
87,641,112 (GRCm39) |
missense |
probably benign |
|
|
R5858:Or12e10
|
UTSW |
2 |
87,640,985 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6229:Or12e10
|
UTSW |
2 |
87,640,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6991:Or12e10
|
UTSW |
2 |
87,640,787 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7007:Or12e10
|
UTSW |
2 |
87,640,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7027:Or12e10
|
UTSW |
2 |
87,641,060 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7260:Or12e10
|
UTSW |
2 |
87,640,731 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7624:Or12e10
|
UTSW |
2 |
87,640,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7794:Or12e10
|
UTSW |
2 |
87,640,818 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8029:Or12e10
|
UTSW |
2 |
87,640,376 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8378:Or12e10
|
UTSW |
2 |
87,640,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8399:Or12e10
|
UTSW |
2 |
87,640,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8514:Or12e10
|
UTSW |
2 |
87,641,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9045:Or12e10
|
UTSW |
2 |
87,640,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9446:Or12e10
|
UTSW |
2 |
87,640,199 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9513:Or12e10
|
UTSW |
2 |
87,640,187 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9548:Or12e10
|
UTSW |
2 |
87,641,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Or12e10
|
UTSW |
2 |
87,640,202 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1088:Or12e10
|
UTSW |
2 |
87,641,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTTGAGGTTGCCAACAGCC -3'
(R):5'- ACCTTGCCTAATACTAAGAGGC -3'
Sequencing Primer
(F):5'- TTGCCAACAGCCAAAGGG -3'
(R):5'- CTTGCCTAATACTAAGAGGCATAAAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation