Incidental Mutation 'R4638:Or12e7'
| ID |
350784 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12e7
|
| Ensembl Gene |
ENSMUSG00000058194 |
| Gene Name |
olfactory receptor family 12 subfamily E member 7 |
| Synonyms |
Olfr1126, MOR264-5, GA_x6K02T2Q125-48959068-48960012 |
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87287511-87288455 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87288327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 273
(S273P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071355]
[ENSMUST00000213366]
|
| AlphaFold |
Q7TR49 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000071355
AA Change: S273P
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000071313
Gene: ENSMUSG00000058194
AA Change: S273P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
8.6e-52 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
8.9e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213366
AA Change: S273P
PolyPhen 2
Score 0.599 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| 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 |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in Or12e7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Or12e7
|
APN |
2 |
87,288,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01875:Or12e7
|
APN |
2 |
87,287,654 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02207:Or12e7
|
APN |
2 |
87,287,794 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0238:Or12e7
|
UTSW |
2 |
87,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0238:Or12e7
|
UTSW |
2 |
87,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Or12e7
|
UTSW |
2 |
87,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0239:Or12e7
|
UTSW |
2 |
87,288,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0478:Or12e7
|
UTSW |
2 |
87,288,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1055:Or12e7
|
UTSW |
2 |
87,287,781 (GRCm39) |
small deletion |
probably benign |
|
|
R1438:Or12e7
|
UTSW |
2 |
87,288,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1625:Or12e7
|
UTSW |
2 |
87,288,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Or12e7
|
UTSW |
2 |
87,287,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3052:Or12e7
|
UTSW |
2 |
87,288,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Or12e7
|
UTSW |
2 |
87,288,138 (GRCm39) |
missense |
probably benign |
|
|
R5526:Or12e7
|
UTSW |
2 |
87,288,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5825:Or12e7
|
UTSW |
2 |
87,287,794 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5965:Or12e7
|
UTSW |
2 |
87,288,381 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6505:Or12e7
|
UTSW |
2 |
87,288,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Or12e7
|
UTSW |
2 |
87,287,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8081:Or12e7
|
UTSW |
2 |
87,287,513 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
|
R9228:Or12e7
|
UTSW |
2 |
87,287,907 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9337:Or12e7
|
UTSW |
2 |
87,287,527 (GRCm39) |
missense |
probably benign |
|
|
R9755:Or12e7
|
UTSW |
2 |
87,287,719 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACACGAGTTGTCTGTCTACTTAG -3'
(R):5'- TTGTTCAGTAGCTGAGTAAGAAGC -3'
Sequencing Primer
(F):5'- TGTCTGTCTACTTAGTAGCTATGC -3'
(R):5'- GTAGCTGAGTAAGAAGCAATCAATC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation