Incidental Mutation 'R4476:Or12k8'
| ID |
330546 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12k8
|
| Ensembl Gene |
ENSMUSG00000075378 |
| Gene Name |
olfactory receptor family 12 subfamily K member 8 |
| Synonyms |
GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361 |
| MMRRC Submission |
041733-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4476 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36974790-36975758 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36975073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 229
(S229L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149770
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100145]
[ENSMUST00000214969]
[ENSMUST00000216663]
|
| AlphaFold |
Q8VF16 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100145
AA Change: S229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: S229L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.5e-44 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
2.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122434
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126779
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214969
AA Change: S229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216663
AA Change: S229L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acin1 |
T |
C |
14: 54,882,787 (GRCm39) |
R275G |
probably damaging |
Het |
| Actc1 |
T |
C |
2: 113,879,707 (GRCm39) |
T251A |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,667 (GRCm39) |
T779A |
probably damaging |
Het |
| Arsb |
C |
T |
13: 93,944,103 (GRCm39) |
R265C |
probably damaging |
Het |
| Cntn6 |
A |
G |
6: 104,749,522 (GRCm39) |
E319G |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,606,782 (GRCm39) |
N275K |
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,817,734 (GRCm39) |
W212C |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,781 (GRCm39) |
D404N |
probably damaging |
Het |
| Gfpt2 |
T |
C |
11: 49,715,169 (GRCm39) |
V388A |
probably benign |
Het |
| Gm14401 |
C |
T |
2: 176,778,570 (GRCm39) |
R219* |
probably null |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,320,957 (GRCm39) |
E178G |
probably benign |
Het |
| Kidins220 |
C |
T |
12: 25,061,000 (GRCm39) |
S826L |
probably damaging |
Het |
| Krt90 |
T |
C |
15: 101,465,718 (GRCm39) |
D301G |
probably damaging |
Het |
| Me3 |
T |
A |
7: 89,389,068 (GRCm39) |
V124E |
probably damaging |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Neto1 |
A |
T |
18: 86,422,798 (GRCm39) |
D85V |
probably damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,842 (GRCm39) |
Y259H |
probably damaging |
Het |
| Or4g7 |
T |
A |
2: 111,310,009 (GRCm39) |
D293E |
possibly damaging |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,500 (GRCm39) |
E2331G |
probably damaging |
Het |
| Rab22a |
C |
T |
2: 173,537,056 (GRCm39) |
T85M |
probably damaging |
Het |
| Rab23 |
A |
G |
1: 33,763,973 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Sox18 |
T |
C |
2: 181,312,669 (GRCm39) |
K154R |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,672,340 (GRCm39) |
|
probably null |
Het |
| Ugt1a10 |
TAAAAAAAAA |
TAAAAAAA |
1: 88,143,650 (GRCm39) |
|
probably benign |
Het |
| Zfp667 |
A |
G |
7: 6,307,598 (GRCm39) |
K89E |
possibly damaging |
Het |
|
| Other mutations in Or12k8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Or12k8
|
APN |
2 |
36,975,407 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02210:Or12k8
|
APN |
2 |
36,975,631 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL03180:Or12k8
|
APN |
2 |
36,975,722 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R0571:Or12k8
|
UTSW |
2 |
36,975,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1715:Or12k8
|
UTSW |
2 |
36,975,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1853:Or12k8
|
UTSW |
2 |
36,975,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:Or12k8
|
UTSW |
2 |
36,974,986 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3009:Or12k8
|
UTSW |
2 |
36,975,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3713:Or12k8
|
UTSW |
2 |
36,975,517 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4355:Or12k8
|
UTSW |
2 |
36,974,942 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5191:Or12k8
|
UTSW |
2 |
36,974,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5387:Or12k8
|
UTSW |
2 |
36,975,731 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5529:Or12k8
|
UTSW |
2 |
36,974,921 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5891:Or12k8
|
UTSW |
2 |
36,974,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7078:Or12k8
|
UTSW |
2 |
36,975,608 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7208:Or12k8
|
UTSW |
2 |
36,975,670 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7793:Or12k8
|
UTSW |
2 |
36,974,933 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8007:Or12k8
|
UTSW |
2 |
36,974,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8843:Or12k8
|
UTSW |
2 |
36,975,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8970:Or12k8
|
UTSW |
2 |
36,975,478 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9155:Or12k8
|
UTSW |
2 |
36,975,016 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9595:Or12k8
|
UTSW |
2 |
36,975,204 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Or12k8
|
UTSW |
2 |
36,975,648 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTCCTGGTTCCTGAGGC -3'
(R):5'- AGTGTGTTGGTCACTCGTTTAACC -3'
Sequencing Primer
(F):5'- CCTGGTTCCTGAGGCTGTAGATTAG -3'
(R):5'- CGTTTAACCTTCTGTGGCAAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation