Incidental Mutation 'R4389:Or5an1c'
| ID |
326347 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5an1c
|
| Ensembl Gene |
ENSMUSG00000067519 |
| Gene Name |
olfactory receptor family 5 subfamily AN member 1C |
| Synonyms |
MOR214-1, Olfr262, GA_x6K02T2N4A9-18144-19082, MOR214-9 |
| MMRRC Submission |
041126-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4389 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
12218085-12219023 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12218503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 174
(V174A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000085120
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087818]
|
| AlphaFold |
Q8VFV8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087818
AA Change: V174A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000085120
Gene: ENSMUSG00000067519
AA Change: V174A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
2.3e-55 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
1.2e-20 |
PFAM |
|
| Meta Mutation Damage Score |
0.2070 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.7%
- 10x: 96.6%
- 20x: 92.6%
|
| Validation Efficiency |
87% (26/30) |
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
C |
11: 9,247,878 (GRCm39) |
T2542P |
probably damaging |
Het |
| Adprm |
C |
T |
11: 66,929,019 (GRCm39) |
R324K |
probably benign |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cd209b |
A |
G |
8: 3,975,960 (GRCm39) |
L67P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,803,362 (GRCm39) |
K1560M |
probably benign |
Het |
| Ctps1 |
T |
C |
4: 120,415,987 (GRCm39) |
D212G |
probably damaging |
Het |
| Ercc6 |
T |
A |
14: 32,296,865 (GRCm39) |
L1285* |
probably null |
Het |
| Gzma |
G |
T |
13: 113,234,922 (GRCm39) |
|
probably null |
Het |
| Kng2 |
T |
C |
16: 22,843,618 (GRCm39) |
I120M |
possibly damaging |
Het |
| Lhx3 |
C |
T |
2: 26,091,102 (GRCm39) |
|
probably benign |
Het |
| Mtfr1l |
T |
C |
4: 134,259,953 (GRCm39) |
|
probably benign |
Het |
| Ndufb4 |
T |
C |
16: 37,468,032 (GRCm39) |
N126S |
probably benign |
Het |
| Nlrp4e |
A |
G |
7: 23,020,652 (GRCm39) |
I380V |
probably benign |
Het |
| Nptn |
A |
G |
9: 58,551,055 (GRCm39) |
K361E |
probably damaging |
Het |
| Orc2 |
T |
C |
1: 58,514,020 (GRCm39) |
D332G |
probably benign |
Het |
| Pcdha4 |
T |
C |
18: 37,087,842 (GRCm39) |
V675A |
probably benign |
Het |
| Rpl7a-ps3 |
G |
A |
15: 36,308,429 (GRCm39) |
|
noncoding transcript |
Het |
| Slc13a1 |
A |
T |
6: 24,092,397 (GRCm39) |
|
probably null |
Het |
| Tec |
A |
G |
5: 72,939,350 (GRCm39) |
Y222H |
probably benign |
Het |
| Ttll2 |
T |
A |
17: 7,618,599 (GRCm39) |
R443* |
probably null |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,715 (GRCm39) |
L106* |
probably null |
Het |
| Zfp189 |
A |
G |
4: 49,529,934 (GRCm39) |
R346G |
probably damaging |
Het |
|
| Other mutations in Or5an1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01432:Or5an1c
|
APN |
19 |
12,218,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02170:Or5an1c
|
APN |
19 |
12,218,120 (GRCm39) |
missense |
probably benign |
|
|
IGL02748:Or5an1c
|
APN |
19 |
12,218,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02896:Or5an1c
|
APN |
19 |
12,218,353 (GRCm39) |
nonsense |
probably null |
|
|
R0365:Or5an1c
|
UTSW |
19 |
12,218,440 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0374:Or5an1c
|
UTSW |
19 |
12,218,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1226:Or5an1c
|
UTSW |
19 |
12,218,950 (GRCm39) |
missense |
probably benign |
|
|
R1319:Or5an1c
|
UTSW |
19 |
12,218,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1426:Or5an1c
|
UTSW |
19 |
12,218,546 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1453:Or5an1c
|
UTSW |
19 |
12,218,956 (GRCm39) |
missense |
probably benign |
|
|
R1675:Or5an1c
|
UTSW |
19 |
12,218,195 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1773:Or5an1c
|
UTSW |
19 |
12,219,023 (GRCm39) |
start codon destroyed |
probably null |
0.03 |
|
R1778:Or5an1c
|
UTSW |
19 |
12,218,819 (GRCm39) |
missense |
probably benign |
|
|
R1820:Or5an1c
|
UTSW |
19 |
12,218,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3161:Or5an1c
|
UTSW |
19 |
12,218,860 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3412:Or5an1c
|
UTSW |
19 |
12,218,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4387:Or5an1c
|
UTSW |
19 |
12,218,503 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4782:Or5an1c
|
UTSW |
19 |
12,218,936 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4885:Or5an1c
|
UTSW |
19 |
12,218,082 (GRCm39) |
splice site |
probably null |
|
|
R4915:Or5an1c
|
UTSW |
19 |
12,218,737 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5254:Or5an1c
|
UTSW |
19 |
12,218,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5726:Or5an1c
|
UTSW |
19 |
12,218,644 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6579:Or5an1c
|
UTSW |
19 |
12,218,726 (GRCm39) |
missense |
probably benign |
|
|
R7062:Or5an1c
|
UTSW |
19 |
12,218,089 (GRCm39) |
missense |
probably benign |
|
|
R7424:Or5an1c
|
UTSW |
19 |
12,218,318 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9491:Or5an1c
|
UTSW |
19 |
12,218,606 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9736:Or5an1c
|
UTSW |
19 |
12,218,920 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGCACAGGTGTTGAATGCC -3'
(R):5'- AGTGAGTCTTGTCTCATGGC -3'
Sequencing Primer
(F):5'- TGCCCTTAGCTGAAGTGATC -3'
(R):5'- GCAGCCATGGCCTATGAC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation