Incidental Mutation 'R2440:Or12j5'
| ID |
249761 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12j5
|
| Ensembl Gene |
ENSMUSG00000052508 |
| Gene Name |
olfactory receptor family 12 subfamily J member 5 |
| Synonyms |
MOR252-4, GA_x6K02T2PBJ9-42653501-42652578, Olfr536, MOR252-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2440 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140080766-140087231 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 140083465 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 302
(K302N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064392]
[ENSMUST00000209873]
[ENSMUST00000215340]
[ENSMUST00000215768]
|
| AlphaFold |
Q8VFE9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064392
AA Change: K302N
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000067699
Gene: ENSMUSG00000052508
AA Change: K302N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
307 |
8.7e-48 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
5.4e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
3.4e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211326
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215340
AA Change: K302N
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215768
AA Change: K302N
PolyPhen 2
Score 0.249 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933412E24Rik |
T |
C |
15: 59,888,129 (GRCm39) |
T104A |
probably benign |
Het |
| Adar |
A |
G |
3: 89,642,161 (GRCm39) |
H14R |
possibly damaging |
Het |
| Albfm1 |
A |
G |
5: 90,720,548 (GRCm39) |
|
probably null |
Het |
| Alcam |
T |
A |
16: 52,125,976 (GRCm39) |
M114L |
probably damaging |
Het |
| Ccn4 |
T |
A |
15: 66,784,706 (GRCm39) |
D126E |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Coch |
T |
C |
12: 51,643,345 (GRCm39) |
S122P |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,864,738 (GRCm39) |
K247E |
probably benign |
Het |
| Gm1527 |
A |
G |
3: 28,949,764 (GRCm39) |
D8G |
probably damaging |
Het |
| Gpat3 |
C |
T |
5: 101,005,039 (GRCm39) |
P58L |
probably benign |
Het |
| Itga8 |
G |
A |
2: 12,183,491 (GRCm39) |
T751I |
possibly damaging |
Het |
| Kif5a |
A |
G |
10: 127,067,205 (GRCm39) |
V904A |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,492,321 (GRCm39) |
E269G |
probably benign |
Het |
| Pde4d |
A |
G |
13: 110,063,731 (GRCm39) |
|
probably benign |
Het |
| Rita1 |
T |
C |
5: 120,748,004 (GRCm39) |
Y98C |
probably damaging |
Het |
| Surf1 |
A |
G |
2: 26,803,919 (GRCm39) |
|
probably null |
Het |
| Sv2c |
A |
G |
13: 96,185,084 (GRCm39) |
Y198H |
probably damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,551 (GRCm39) |
F41L |
possibly damaging |
Het |
| Tigd2 |
A |
G |
6: 59,186,980 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
C |
A |
17: 57,393,285 (GRCm39) |
G38W |
probably damaging |
Het |
| Tyrp1 |
G |
A |
4: 80,764,843 (GRCm39) |
V7I |
probably benign |
Het |
| Unc45a |
A |
G |
7: 79,978,805 (GRCm39) |
Y615H |
probably damaging |
Het |
|
| Other mutations in Or12j5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01096:Or12j5
|
APN |
7 |
140,084,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02065:Or12j5
|
APN |
7 |
140,084,077 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02812:Or12j5
|
APN |
7 |
140,083,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02896:Or12j5
|
APN |
7 |
140,083,968 (GRCm39) |
splice site |
probably null |
|
|
IGL03281:Or12j5
|
APN |
7 |
140,083,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Or12j5
|
UTSW |
7 |
140,083,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3112:Or12j5
|
UTSW |
7 |
140,083,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4349:Or12j5
|
UTSW |
7 |
140,084,270 (GRCm39) |
nonsense |
probably null |
|
|
R4660:Or12j5
|
UTSW |
7 |
140,083,933 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4827:Or12j5
|
UTSW |
7 |
140,083,583 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5606:Or12j5
|
UTSW |
7 |
140,083,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Or12j5
|
UTSW |
7 |
140,084,318 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7102:Or12j5
|
UTSW |
7 |
140,084,229 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7354:Or12j5
|
UTSW |
7 |
140,084,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8081:Or12j5
|
UTSW |
7 |
140,084,369 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R8095:Or12j5
|
UTSW |
7 |
140,084,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8520:Or12j5
|
UTSW |
7 |
140,084,315 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8880:Or12j5
|
UTSW |
7 |
140,084,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9124:Or12j5
|
UTSW |
7 |
140,084,222 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Or12j5
|
UTSW |
7 |
140,083,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGCATTGAACTTATAAGCACACAC -3'
(R):5'- CAGGCCTGAACTTCCTGTTG -3'
Sequencing Primer
(F):5'- GCACACACATCTATGTATGAAGTAG -3'
(R):5'- AGGCCTGAACTTCCTGTTGACTATG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation