Incidental Mutation 'R1325:Or2j6'
| ID |
157186 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2j6
|
| Ensembl Gene |
ENSMUSG00000062712 |
| Gene Name |
olfactory receptor family 2 subfamily J member 6 |
| Synonyms |
GA_x6K02T2PBJ9-42551260-42550346, Olfr531, MOR251-3 |
| MMRRC Submission |
039391-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R1325 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
139980043-139980957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 139980794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 55
(P55L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080153]
[ENSMUST00000216053]
[ENSMUST00000217167]
|
| AlphaFold |
Q8VGL2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080153
AA Change: P55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000079048
Gene: ENSMUSG00000062712
AA Change: P55L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
28 |
303 |
6.3e-46 |
PFAM |
|
Pfam:7tm_1
|
38 |
286 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216053
AA Change: P55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217032
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217167
AA Change: P55L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.5%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,499,938 (GRCm39) |
I293T |
possibly damaging |
Het |
| Abca14 |
A |
G |
7: 119,846,545 (GRCm39) |
I666V |
probably benign |
Het |
| Acsl1 |
G |
A |
8: 46,966,337 (GRCm39) |
V164I |
probably benign |
Het |
| Aox3 |
C |
T |
1: 58,215,726 (GRCm39) |
Q1053* |
probably null |
Het |
| Arhgap31 |
A |
G |
16: 38,423,304 (GRCm39) |
S921P |
probably benign |
Het |
| Bcl6 |
A |
G |
16: 23,791,097 (GRCm39) |
M419T |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,235,516 (GRCm39) |
I145T |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,946,562 (GRCm39) |
V456A |
possibly damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,115 (GRCm39) |
T353A |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,617,381 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,193,544 (GRCm39) |
T14S |
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,963,289 (GRCm39) |
R1129H |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,649,083 (GRCm39) |
D197G |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Krt1 |
A |
T |
15: 101,756,641 (GRCm39) |
|
probably null |
Het |
| Lrrc9 |
C |
A |
12: 72,543,878 (GRCm39) |
Q1116K |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,195,844 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,311,300 (GRCm39) |
E338G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,730,738 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or2j6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01750:Or2j6
|
APN |
7 |
139,980,570 (GRCm39) |
missense |
probably benign |
|
|
IGL02190:Or2j6
|
APN |
7 |
139,980,033 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02548:Or2j6
|
APN |
7 |
139,980,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0200:Or2j6
|
UTSW |
7 |
139,980,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0589:Or2j6
|
UTSW |
7 |
139,980,813 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1985:Or2j6
|
UTSW |
7 |
139,980,713 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4671:Or2j6
|
UTSW |
7 |
139,980,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Or2j6
|
UTSW |
7 |
139,980,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4941:Or2j6
|
UTSW |
7 |
139,980,792 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5015:Or2j6
|
UTSW |
7 |
139,980,083 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5070:Or2j6
|
UTSW |
7 |
139,980,482 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5244:Or2j6
|
UTSW |
7 |
139,980,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5883:Or2j6
|
UTSW |
7 |
139,980,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Or2j6
|
UTSW |
7 |
139,980,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7246:Or2j6
|
UTSW |
7 |
139,980,061 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7396:Or2j6
|
UTSW |
7 |
139,980,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7742:Or2j6
|
UTSW |
7 |
139,980,234 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7789:Or2j6
|
UTSW |
7 |
139,980,610 (GRCm39) |
nonsense |
probably null |
|
|
R7799:Or2j6
|
UTSW |
7 |
139,980,377 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9077:Or2j6
|
UTSW |
7 |
139,980,809 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9087:Or2j6
|
UTSW |
7 |
139,980,547 (GRCm39) |
nonsense |
probably null |
|
|
R9735:Or2j6
|
UTSW |
7 |
139,980,378 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATAGCCCAGACAATGCCAGC -3'
(R):5'- GATGAATGGGACACTGGTCACTGAG -3'
Sequencing Primer
(F):5'- GGCCCATCCAGGTACTATAATG -3'
(R):5'- GACACTGGTCACTGAGTTCCTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation