Incidental Mutation 'R6672:Or12j4'
| ID |
527172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12j4
|
| Ensembl Gene |
ENSMUSG00000056883 |
| Gene Name |
olfactory receptor family 12 subfamily J member 4 |
| Synonyms |
MOR252-3P, Olfr533, GA_x6K02T2PBJ9-42615403-42616365 |
| MMRRC Submission |
044792-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.107)
|
| Stock # |
R6672 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
140046116-140047078 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 140046648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 178
(C178Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150653
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071755]
[ENSMUST00000211093]
[ENSMUST00000215308]
[ENSMUST00000216258]
[ENSMUST00000217179]
|
| AlphaFold |
Q7TRT7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071755
AA Change: C178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071667
Gene: ENSMUSG00000056883
AA Change: C178Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
306 |
7.3e-49 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
289 |
5.6e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211093
AA Change: C178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215308
AA Change: C178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216258
AA Change: C178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216292
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217179
AA Change: C178Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.7410 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (31/31) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
C |
T |
7: 26,903,489 (GRCm39) |
|
probably benign |
Het |
| Adam24 |
A |
G |
8: 41,134,572 (GRCm39) |
E680G |
probably benign |
Het |
| Adam7 |
T |
A |
14: 68,742,151 (GRCm39) |
|
probably null |
Het |
| Arid2 |
C |
T |
15: 96,260,226 (GRCm39) |
T351I |
probably benign |
Het |
| Asz1 |
T |
A |
6: 18,075,817 (GRCm39) |
E252V |
possibly damaging |
Het |
| Chrm5 |
C |
T |
2: 112,310,141 (GRCm39) |
C325Y |
probably benign |
Het |
| Cimap1a |
A |
G |
7: 140,428,340 (GRCm39) |
S25G |
probably benign |
Het |
| Cyp2c65 |
A |
G |
19: 39,076,118 (GRCm39) |
R357G |
probably damaging |
Het |
| Dhx36 |
A |
G |
3: 62,402,957 (GRCm39) |
V265A |
probably damaging |
Het |
| Dhx36 |
T |
A |
3: 62,408,300 (GRCm39) |
E179D |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,617,866 (GRCm39) |
|
probably null |
Het |
| Dock10 |
A |
T |
1: 80,490,248 (GRCm39) |
M1958K |
probably benign |
Het |
| Dpf1 |
T |
C |
7: 29,015,693 (GRCm39) |
C357R |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,624,568 (GRCm39) |
R3703C |
probably damaging |
Het |
| Eef1g |
A |
G |
19: 8,944,411 (GRCm39) |
|
probably null |
Het |
| Gnl2 |
T |
C |
4: 124,942,186 (GRCm39) |
V397A |
probably damaging |
Het |
| Gramd2b |
A |
G |
18: 56,565,408 (GRCm39) |
E21G |
possibly damaging |
Het |
| Grik3 |
C |
A |
4: 125,517,309 (GRCm39) |
Q51K |
probably benign |
Het |
| Hectd2 |
G |
T |
19: 36,564,780 (GRCm39) |
Q20H |
probably damaging |
Het |
| Krtap5-1 |
A |
G |
7: 141,850,233 (GRCm39) |
C192R |
unknown |
Het |
| Lrpap1 |
A |
T |
5: 35,256,577 (GRCm39) |
M135K |
probably benign |
Het |
| Lrrc9 |
G |
A |
12: 72,520,710 (GRCm39) |
R664H |
possibly damaging |
Het |
| Mef2c |
T |
G |
13: 83,800,975 (GRCm39) |
V225G |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,753,263 (GRCm39) |
L56P |
probably damaging |
Het |
| Nup133 |
T |
C |
8: 124,643,020 (GRCm39) |
|
probably null |
Het |
| Or5ak23 |
T |
A |
2: 85,244,948 (GRCm39) |
I92L |
possibly damaging |
Het |
| Ppp1r3d |
T |
C |
2: 178,055,552 (GRCm39) |
E150G |
possibly damaging |
Het |
| Smpd1 |
A |
G |
7: 105,204,480 (GRCm39) |
M120V |
probably benign |
Het |
| Zbtb46 |
A |
G |
2: 181,053,629 (GRCm39) |
L361P |
probably benign |
Het |
| Zfp605 |
A |
G |
5: 110,275,863 (GRCm39) |
H327R |
probably damaging |
Het |
|
| Other mutations in Or12j4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Or12j4
|
APN |
7 |
140,046,292 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02582:Or12j4
|
APN |
7 |
140,046,560 (GRCm39) |
missense |
probably benign |
|
|
IGL02954:Or12j4
|
APN |
7 |
140,046,353 (GRCm39) |
nonsense |
probably null |
|
|
R0790:Or12j4
|
UTSW |
7 |
140,046,962 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1754:Or12j4
|
UTSW |
7 |
140,046,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Or12j4
|
UTSW |
7 |
140,046,574 (GRCm39) |
missense |
probably benign |
|
|
R2155:Or12j4
|
UTSW |
7 |
140,046,504 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4613:Or12j4
|
UTSW |
7 |
140,046,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4836:Or12j4
|
UTSW |
7 |
140,046,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Or12j4
|
UTSW |
7 |
140,046,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5694:Or12j4
|
UTSW |
7 |
140,046,644 (GRCm39) |
missense |
probably benign |
0.28 |
|
R6101:Or12j4
|
UTSW |
7 |
140,046,432 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6156:Or12j4
|
UTSW |
7 |
140,046,758 (GRCm39) |
missense |
probably benign |
|
|
R6519:Or12j4
|
UTSW |
7 |
140,046,458 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6736:Or12j4
|
UTSW |
7 |
140,046,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6736:Or12j4
|
UTSW |
7 |
140,046,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7086:Or12j4
|
UTSW |
7 |
140,046,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7174:Or12j4
|
UTSW |
7 |
140,047,076 (GRCm39) |
makesense |
probably null |
|
|
R7465:Or12j4
|
UTSW |
7 |
140,046,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7486:Or12j4
|
UTSW |
7 |
140,045,947 (GRCm39) |
start gained |
probably benign |
|
|
R7872:Or12j4
|
UTSW |
7 |
140,046,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Or12j4
|
UTSW |
7 |
140,046,179 (GRCm39) |
missense |
probably benign |
|
|
R9014:Or12j4
|
UTSW |
7 |
140,045,883 (GRCm39) |
start gained |
probably benign |
|
|
R9255:Or12j4
|
UTSW |
7 |
140,046,423 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCCATGGCCTATGAC -3'
(R):5'- AAAGTGTGACCACAACCAGG -3'
Sequencing Primer
(F):5'- ATGGCCTATGACCGCTACC -3'
(R):5'- TAGAGAAGGCACGCTTCTTGC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation