Incidental Mutation 'R5415:Or4c12'
ID |
427669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4c12
|
Ensembl Gene |
ENSMUSG00000068806 |
Gene Name |
olfactory receptor family 4 subfamily C member 12 |
Synonyms |
MOR232-9, Olfr1259, GA_x6K02T2Q125-51376062-51375133 |
MMRRC Submission |
042984-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.460)
|
Stock # |
R5415 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
89773528-89774457 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 89773731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 243
(T243S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149652
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090695]
[ENSMUST00000214846]
|
AlphaFold |
Q8VEZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000090695
AA Change: T243S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088194 Gene: ENSMUSG00000068806 AA Change: T243S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
29 |
303 |
8.9e-45 |
PFAM |
Pfam:7tm_1
|
39 |
285 |
5.5e-18 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214846
AA Change: T243S
PolyPhen 2
Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
Enpp2 |
G |
A |
15: 54,745,552 (GRCm39) |
H315Y |
probably damaging |
Het |
Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
Het |
|
Other mutations in Or4c12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01014:Or4c12
|
APN |
2 |
89,773,604 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01446:Or4c12
|
APN |
2 |
89,774,282 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01830:Or4c12
|
APN |
2 |
89,773,775 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02160:Or4c12
|
APN |
2 |
89,774,149 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Or4c12
|
UTSW |
2 |
89,774,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R0366:Or4c12
|
UTSW |
2 |
89,774,162 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0550:Or4c12
|
UTSW |
2 |
89,773,733 (GRCm39) |
missense |
probably damaging |
0.99 |
R0587:Or4c12
|
UTSW |
2 |
89,773,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R1383:Or4c12
|
UTSW |
2 |
89,773,895 (GRCm39) |
missense |
probably benign |
0.12 |
R1400:Or4c12
|
UTSW |
2 |
89,773,886 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1851:Or4c12
|
UTSW |
2 |
89,774,158 (GRCm39) |
nonsense |
probably null |
|
R1953:Or4c12
|
UTSW |
2 |
89,774,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R2330:Or4c12
|
UTSW |
2 |
89,774,297 (GRCm39) |
missense |
probably benign |
|
R3897:Or4c12
|
UTSW |
2 |
89,774,153 (GRCm39) |
missense |
probably benign |
0.24 |
R3955:Or4c12
|
UTSW |
2 |
89,774,172 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4687:Or4c12
|
UTSW |
2 |
89,774,213 (GRCm39) |
missense |
probably damaging |
0.98 |
R4976:Or4c12
|
UTSW |
2 |
89,774,147 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5119:Or4c12
|
UTSW |
2 |
89,774,147 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5291:Or4c12
|
UTSW |
2 |
89,773,780 (GRCm39) |
nonsense |
probably null |
|
R5546:Or4c12
|
UTSW |
2 |
89,773,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R5588:Or4c12
|
UTSW |
2 |
89,774,136 (GRCm39) |
missense |
probably benign |
0.00 |
R6633:Or4c12
|
UTSW |
2 |
89,773,710 (GRCm39) |
missense |
probably benign |
|
R6858:Or4c12
|
UTSW |
2 |
89,774,087 (GRCm39) |
missense |
probably damaging |
0.99 |
R7294:Or4c12
|
UTSW |
2 |
89,774,068 (GRCm39) |
nonsense |
probably null |
|
R8261:Or4c12
|
UTSW |
2 |
89,773,716 (GRCm39) |
missense |
probably benign |
0.00 |
R8319:Or4c12
|
UTSW |
2 |
89,774,024 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8771:Or4c12
|
UTSW |
2 |
89,773,565 (GRCm39) |
missense |
probably benign |
0.01 |
R8817:Or4c12
|
UTSW |
2 |
89,773,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R9208:Or4c12
|
UTSW |
2 |
89,773,725 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9390:Or4c12
|
UTSW |
2 |
89,773,569 (GRCm39) |
missense |
probably benign |
0.10 |
R9402:Or4c12
|
UTSW |
2 |
89,774,284 (GRCm39) |
nonsense |
probably null |
|
R9731:Or4c12
|
UTSW |
2 |
89,774,316 (GRCm39) |
missense |
possibly damaging |
0.67 |
Z1088:Or4c12
|
UTSW |
2 |
89,774,114 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCCATGTGCATAGTTCAGTG -3'
(R):5'- GAACTTGTTTGCATGGACACAC -3'
Sequencing Primer
(F):5'- CCCATGTGCATAGTTCAGTGACATG -3'
(R):5'- TGTTTGCATGGACACACACATC -3'
|
Posted On |
2016-09-01 |