Incidental Mutation 'R4237:Or12e8'
| ID |
321152 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12e8
|
| Ensembl Gene |
ENSMUSG00000081234 |
| Gene Name |
olfactory receptor family 12 subfamily E member 8 |
| Synonyms |
Olfr1120, MOR264-2, GA_x6K02T2Q125-48849180-48850100 |
| MMRRC Submission |
041054-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.275)
|
| Stock # |
R4237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87187790-87188734 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87188597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 270
(S270P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149911
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058737]
[ENSMUST00000215163]
|
| AlphaFold |
Q8VGT7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058737
AA Change: S270P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051931
Gene: ENSMUSG00000081234
AA Change: S270P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
1.1e-54 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
7.2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215163
AA Change: S270P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215282
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,888,126 (GRCm39) |
D397G |
probably benign |
Het |
| 6820408C15Rik |
C |
T |
2: 152,270,873 (GRCm39) |
T32I |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,384,188 (GRCm39) |
K3880R |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,979,147 (GRCm39) |
L144F |
probably benign |
Het |
| Antxr2 |
A |
T |
5: 98,086,266 (GRCm39) |
I447N |
probably damaging |
Het |
| Cdc20 |
C |
T |
4: 118,290,257 (GRCm39) |
R468Q |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,564,051 (GRCm39) |
|
probably benign |
Het |
| Cntnap2 |
A |
T |
6: 46,507,324 (GRCm39) |
|
probably benign |
Het |
| Ddi1 |
A |
G |
9: 6,265,799 (GRCm39) |
M190T |
probably benign |
Het |
| Dicer1 |
A |
G |
12: 104,695,487 (GRCm39) |
V148A |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,962,205 (GRCm39) |
D415G |
probably benign |
Het |
| Galnt11 |
G |
A |
5: 25,470,258 (GRCm39) |
R569Q |
probably benign |
Het |
| Gpr6 |
T |
C |
10: 40,946,604 (GRCm39) |
N326S |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,313,259 (GRCm39) |
|
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,533 (GRCm39) |
D19E |
probably benign |
Het |
| L3mbtl3 |
G |
A |
10: 26,216,846 (GRCm39) |
A181V |
unknown |
Het |
| Lrrc37a |
G |
A |
11: 103,393,115 (GRCm39) |
T770I |
probably damaging |
Het |
| Or2d2 |
A |
G |
7: 106,728,244 (GRCm39) |
S119P |
probably damaging |
Het |
| Or6a2 |
T |
C |
7: 106,600,536 (GRCm39) |
N177S |
probably damaging |
Het |
| Or7g32 |
C |
T |
9: 19,388,893 (GRCm39) |
V215I |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,363 (GRCm39) |
N437K |
possibly damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,805,170 (GRCm39) |
T181A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,960,964 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
G |
11: 78,095,752 (GRCm39) |
N128S |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,876,546 (GRCm39) |
P155L |
probably damaging |
Het |
| Rad54l |
A |
G |
4: 115,956,646 (GRCm39) |
V500A |
probably damaging |
Het |
| Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
| Serpinb10 |
C |
T |
1: 107,466,179 (GRCm39) |
T55M |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,395 (GRCm39) |
E314G |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
| Tdrd9 |
C |
T |
12: 112,034,059 (GRCm39) |
R1334* |
probably null |
Het |
| Trank1 |
A |
G |
9: 111,196,103 (GRCm39) |
I1376V |
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,761,838 (GRCm39) |
H268Q |
possibly damaging |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,740 (GRCm39) |
I187L |
probably benign |
Het |
| Wdr95 |
A |
T |
5: 149,486,802 (GRCm39) |
R160* |
probably null |
Het |
| Wnt5a |
T |
C |
14: 28,244,823 (GRCm39) |
C357R |
probably damaging |
Het |
| Zfp157 |
A |
G |
5: 138,445,803 (GRCm39) |
I53V |
probably damaging |
Het |
| Zfp184 |
G |
A |
13: 22,142,948 (GRCm39) |
R218H |
probably damaging |
Het |
|
| Other mutations in Or12e8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01142:Or12e8
|
APN |
2 |
87,187,889 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01680:Or12e8
|
APN |
2 |
87,188,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02210:Or12e8
|
APN |
2 |
87,188,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Or12e8
|
UTSW |
2 |
87,188,026 (GRCm39) |
nonsense |
probably null |
|
|
R0849:Or12e8
|
UTSW |
2 |
87,188,609 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1298:Or12e8
|
UTSW |
2 |
87,188,414 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2309:Or12e8
|
UTSW |
2 |
87,188,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Or12e8
|
UTSW |
2 |
87,188,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5679:Or12e8
|
UTSW |
2 |
87,187,889 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5939:Or12e8
|
UTSW |
2 |
87,188,048 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6269:Or12e8
|
UTSW |
2 |
87,677,218 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6551:Or12e8
|
UTSW |
2 |
87,677,005 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7024:Or12e8
|
UTSW |
2 |
87,188,066 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7242:Or12e8
|
UTSW |
2 |
87,188,426 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7359:Or12e8
|
UTSW |
2 |
87,188,555 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7444:Or12e8
|
UTSW |
2 |
87,188,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7488:Or12e8
|
UTSW |
2 |
87,188,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7646:Or12e8
|
UTSW |
2 |
87,188,102 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7711:Or12e8
|
UTSW |
2 |
87,187,871 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8963:Or12e8
|
UTSW |
2 |
87,187,950 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACACTTCAATGCATGAGTTG -3'
(R):5'- ACATAGTTTTCATGAGTGTGGTAGAAG -3'
Sequencing Primer
(F):5'- CTTCAATGCATGAGTTGTCTGTATAC -3'
(R):5'- CATGAGTGTGGTAGAAGTTGATTATG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation