Incidental Mutation 'R7546:Or4c12b'
| ID |
584201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c12b
|
| Ensembl Gene |
ENSMUSG00000045148 |
| Gene Name |
olfactory receptor family 4 subfamily C member 12B |
| Synonyms |
MOR232-4, GA_x6K02T2Q125-51257221-51258135, Olfr1255 |
| MMRRC Submission |
045617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7546 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89646672-89647604 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89647538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 283
(L283F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150299
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057369]
[ENSMUST00000214508]
|
| AlphaFold |
A2AUA4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057369
AA Change: L289F
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000060602
Gene: ENSMUSG00000045148
AA Change: L289F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
309 |
5.2e-44 |
PFAM |
|
Pfam:7tm_1
|
45 |
291 |
4.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214508
AA Change: L283F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (40/40) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,348,330 (GRCm39) |
S36P |
probably benign |
Het |
| A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
| Ampd1 |
A |
G |
3: 103,003,028 (GRCm39) |
T582A |
probably benign |
Het |
| Ank1 |
A |
C |
8: 23,555,011 (GRCm39) |
N57T |
probably damaging |
Het |
| Atxn3 |
A |
G |
12: 101,914,261 (GRCm39) |
|
probably null |
Het |
| Bace2 |
G |
A |
16: 97,200,882 (GRCm39) |
A117T |
probably benign |
Het |
| Bcl2l15 |
A |
G |
3: 103,740,203 (GRCm39) |
N19S |
probably benign |
Het |
| Bid |
C |
A |
6: 120,877,112 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
A |
T |
6: 23,626,607 (GRCm39) |
M227K |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,135,697 (GRCm39) |
C483Y |
possibly damaging |
Het |
| Dennd4a |
A |
G |
9: 64,780,326 (GRCm39) |
T621A |
probably damaging |
Het |
| E2f3 |
G |
A |
13: 30,094,112 (GRCm39) |
S383L |
probably damaging |
Het |
| F2r |
C |
T |
13: 95,754,858 (GRCm39) |
V9I |
probably benign |
Het |
| Gm14226 |
T |
C |
2: 154,867,131 (GRCm39) |
S363P |
probably damaging |
Het |
| Gstm5 |
T |
C |
3: 107,804,610 (GRCm39) |
Y65H |
probably damaging |
Het |
| H2bc13 |
A |
G |
13: 21,900,040 (GRCm39) |
S92P |
probably benign |
Het |
| H60c |
A |
G |
10: 3,209,907 (GRCm39) |
W127R |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,606,894 (GRCm39) |
G448* |
probably null |
Het |
| Klrh1 |
T |
C |
6: 129,749,343 (GRCm39) |
H84R |
probably benign |
Het |
| Lhx6 |
C |
T |
2: 35,993,357 (GRCm39) |
|
probably null |
Het |
| Manba |
T |
A |
3: 135,276,007 (GRCm39) |
V816D |
probably benign |
Het |
| Marchf10 |
G |
A |
11: 105,280,906 (GRCm39) |
P460S |
not run |
Het |
| Mmp17 |
T |
A |
5: 129,673,653 (GRCm39) |
V244E |
probably damaging |
Het |
| Mtrr |
C |
T |
13: 68,730,268 (GRCm39) |
|
probably benign |
Het |
| Nup160 |
T |
C |
2: 90,515,402 (GRCm39) |
I170T |
probably damaging |
Het |
| Or51e1 |
T |
C |
7: 102,358,996 (GRCm39) |
S177P |
probably damaging |
Het |
| Pappa |
G |
A |
4: 65,074,352 (GRCm39) |
S302N |
possibly damaging |
Het |
| Plekhj1 |
G |
A |
10: 80,633,748 (GRCm39) |
A53V |
possibly damaging |
Het |
| Pramel46 |
T |
A |
5: 95,418,171 (GRCm39) |
H275L |
possibly damaging |
Het |
| Pramel48 |
C |
T |
5: 95,630,539 (GRCm39) |
R139C |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,399,200 (GRCm39) |
V2157A |
probably damaging |
Het |
| Rps8 |
G |
A |
4: 117,011,104 (GRCm39) |
R200W |
probably damaging |
Het |
| Sesn2 |
A |
G |
4: 132,227,154 (GRCm39) |
F93L |
probably damaging |
Het |
| Skic3 |
C |
A |
13: 76,282,954 (GRCm39) |
L759M |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,311 (GRCm39) |
S768P |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,137,622 (GRCm39) |
N471S |
probably damaging |
Het |
| Trcg1 |
T |
C |
9: 57,155,621 (GRCm39) |
L758P |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,540,696 (GRCm39) |
T183A |
probably benign |
Het |
| Ttr |
C |
A |
18: 20,803,102 (GRCm39) |
Y89* |
probably null |
Het |
| Zfp90 |
C |
A |
8: 107,151,323 (GRCm39) |
H345Q |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,757,961 (GRCm39) |
V1531A |
probably damaging |
Het |
|
| Other mutations in Or4c12b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01643:Or4c12b
|
APN |
2 |
89,647,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Or4c12b
|
APN |
2 |
89,647,508 (GRCm39) |
nonsense |
probably null |
|
|
IGL03077:Or4c12b
|
APN |
2 |
89,647,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Or4c12b
|
APN |
2 |
89,647,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Or4c12b
|
APN |
2 |
89,647,509 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0683:Or4c12b
|
UTSW |
2 |
89,647,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Or4c12b
|
UTSW |
2 |
89,646,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1567:Or4c12b
|
UTSW |
2 |
89,647,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3810:Or4c12b
|
UTSW |
2 |
89,647,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3812:Or4c12b
|
UTSW |
2 |
89,647,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4900:Or4c12b
|
UTSW |
2 |
89,647,312 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5538:Or4c12b
|
UTSW |
2 |
89,646,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5770:Or4c12b
|
UTSW |
2 |
89,646,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5894:Or4c12b
|
UTSW |
2 |
89,647,557 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5942:Or4c12b
|
UTSW |
2 |
89,646,684 (GRCm39) |
nonsense |
probably null |
|
|
R6263:Or4c12b
|
UTSW |
2 |
89,647,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6271:Or4c12b
|
UTSW |
2 |
89,646,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6651:Or4c12b
|
UTSW |
2 |
89,647,240 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7298:Or4c12b
|
UTSW |
2 |
89,646,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7379:Or4c12b
|
UTSW |
2 |
89,647,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7465:Or4c12b
|
UTSW |
2 |
89,646,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7546:Or4c12b
|
UTSW |
2 |
89,647,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8458:Or4c12b
|
UTSW |
2 |
89,647,494 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9513:Or4c12b
|
UTSW |
2 |
89,647,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGCTTAGAAGGCAGGCGC -3'
(R):5'- AGGATTACAGTCCTTGTTTTACCTCTG -3'
Sequencing Primer
(F):5'- GCAAAGCTCTCTCCACCTGTG -3'
(R):5'- TCTCCATGTAATATCCAACCATTCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation