Incidental Mutation 'R4281:Or12j3'
| ID |
322897 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12j3
|
| Ensembl Gene |
ENSMUSG00000060974 |
| Gene Name |
olfactory receptor family 12 subfamily J member 3 |
| Synonyms |
Olfr530, GA_x6K02T2PBJ9-42523824-42522901, MOR252-2 |
| MMRRC Submission |
041649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R4281 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
139952598-139953521 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139953385 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 46
(I46T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149475
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074177]
[ENSMUST00000216727]
|
| AlphaFold |
Q8VFE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074177
AA Change: I46T
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000073808
Gene: ENSMUSG00000060974
AA Change: I46T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
307 |
4.8e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
1.8e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211097
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216727
AA Change: I46T
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
92% (44/48) |
| 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 |
|---|
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| B9d2 |
A |
G |
7: 25,380,851 (GRCm39) |
T14A |
possibly damaging |
Het |
| Cavin3 |
A |
C |
7: 105,130,981 (GRCm39) |
|
probably null |
Het |
| Defa27 |
A |
G |
8: 21,805,632 (GRCm39) |
N24S |
probably benign |
Het |
| Defb40 |
A |
G |
8: 19,028,093 (GRCm39) |
S14P |
probably damaging |
Het |
| Dnaaf11 |
A |
T |
15: 66,252,378 (GRCm39) |
H429Q |
probably benign |
Het |
| Dnmt3a |
G |
A |
12: 3,951,665 (GRCm39) |
G681R |
probably damaging |
Het |
| Evc2 |
T |
C |
5: 37,495,938 (GRCm39) |
V16A |
probably benign |
Het |
| Fam210b |
T |
C |
2: 172,193,468 (GRCm39) |
Y94H |
probably damaging |
Het |
| Gimap8 |
A |
C |
6: 48,635,754 (GRCm39) |
R506S |
probably benign |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Gpr39 |
G |
A |
1: 125,605,728 (GRCm39) |
V219I |
probably benign |
Het |
| Gsn |
A |
G |
2: 35,188,883 (GRCm39) |
Y434C |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,065 (GRCm39) |
N383S |
possibly damaging |
Het |
| Hepacam2 |
G |
A |
6: 3,475,938 (GRCm39) |
T329I |
probably damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,006,167 (GRCm39) |
V526A |
probably benign |
Het |
| Magea14 |
T |
C |
X: 51,057,867 (GRCm39) |
Y273C |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,167,371 (GRCm39) |
K456R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,946,732 (GRCm39) |
I143V |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,891,029 (GRCm39) |
C112R |
probably benign |
Het |
| Pcdh18 |
A |
G |
3: 49,710,982 (GRCm39) |
L111P |
possibly damaging |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Pnpla6 |
T |
C |
8: 3,571,513 (GRCm39) |
L148P |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,623,963 (GRCm39) |
|
probably null |
Het |
| Rars1 |
T |
C |
11: 35,712,051 (GRCm39) |
E275G |
probably damaging |
Het |
| Rasa3 |
A |
G |
8: 13,638,946 (GRCm39) |
V287A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,404 (GRCm39) |
R641Q |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,925,115 (GRCm39) |
|
noncoding transcript |
Het |
| Sned1 |
A |
T |
1: 93,213,577 (GRCm39) |
R426* |
probably null |
Het |
| Tmem132a |
C |
G |
19: 10,839,090 (GRCm39) |
E451Q |
possibly damaging |
Het |
| Tmem229b-ps |
A |
G |
10: 53,351,474 (GRCm39) |
|
noncoding transcript |
Het |
| Trim33 |
T |
A |
3: 103,236,402 (GRCm39) |
V504D |
probably damaging |
Het |
| Usp47 |
A |
T |
7: 111,709,200 (GRCm39) |
E1315D |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp612 |
A |
G |
8: 110,816,691 (GRCm39) |
I594V |
probably damaging |
Het |
| Zfp692 |
T |
C |
11: 58,205,091 (GRCm39) |
F447L |
probably damaging |
Het |
| Zranb3 |
A |
C |
1: 127,891,614 (GRCm39) |
S787R |
possibly damaging |
Het |
|
| Other mutations in Or12j3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Or12j3
|
APN |
7 |
139,953,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01785:Or12j3
|
APN |
7 |
139,953,038 (GRCm39) |
missense |
probably benign |
|
|
IGL01786:Or12j3
|
APN |
7 |
139,953,038 (GRCm39) |
missense |
probably benign |
|
|
IGL03087:Or12j3
|
APN |
7 |
139,953,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Or12j3
|
UTSW |
7 |
139,953,307 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0634:Or12j3
|
UTSW |
7 |
139,953,310 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1470:Or12j3
|
UTSW |
7 |
139,953,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1470:Or12j3
|
UTSW |
7 |
139,953,026 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1553:Or12j3
|
UTSW |
7 |
139,952,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1702:Or12j3
|
UTSW |
7 |
139,952,655 (GRCm39) |
nonsense |
probably null |
|
|
R1767:Or12j3
|
UTSW |
7 |
139,953,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2379:Or12j3
|
UTSW |
7 |
139,952,748 (GRCm39) |
nonsense |
probably null |
|
|
R4243:Or12j3
|
UTSW |
7 |
139,952,857 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4717:Or12j3
|
UTSW |
7 |
139,953,328 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4923:Or12j3
|
UTSW |
7 |
139,952,920 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5763:Or12j3
|
UTSW |
7 |
139,953,568 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6126:Or12j3
|
UTSW |
7 |
139,953,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Or12j3
|
UTSW |
7 |
139,953,354 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7469:Or12j3
|
UTSW |
7 |
139,953,050 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8081:Or12j3
|
UTSW |
7 |
139,952,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Or12j3
|
UTSW |
7 |
139,952,698 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8922:Or12j3
|
UTSW |
7 |
139,953,389 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9161:Or12j3
|
UTSW |
7 |
139,952,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9389:Or12j3
|
UTSW |
7 |
139,952,930 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Or12j3
|
UTSW |
7 |
139,952,716 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGGTAGCGGTCATAGG -3'
(R):5'- GCTACAACTCTTATCCTGAACCTAGAC -3'
Sequencing Primer
(F):5'- TAGCGGTCATAGGCCATGG -3'
(R):5'- GAACCTAGACAGTGTTTCCCATGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation