Incidental Mutation 'R5491:Or13j1'
| ID |
432079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or13j1
|
| Ensembl Gene |
ENSMUSG00000046450 |
| Gene Name |
olfactory receptor family 13 subfamily J member 1 |
| Synonyms |
MOR262-4, Olfr71, mOR17, GA_x6K02T2N78B-16230286-16231224 |
| MMRRC Submission |
043052-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R5491 (G1)
|
| Quality Score |
114 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43705628-43706566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43705990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 193
(S193P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055401]
[ENSMUST00000107862]
[ENSMUST00000217544]
|
| AlphaFold |
Q9QZ18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055401
AA Change: S193P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000060230
Gene: ENSMUSG00000046450
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
2.4e-34 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
4.5e-44 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107862
AA Change: S193P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103494
Gene: ENSMUSG00000046450
AA Change: S193P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
2.2e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
7.5e-25 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217544
AA Change: S193P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 89.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
G |
T |
19: 31,895,462 (GRCm39) |
A182S |
possibly damaging |
Het |
| Aldh1l2 |
A |
T |
10: 83,358,649 (GRCm39) |
D2E |
probably benign |
Het |
| Bach2 |
G |
T |
4: 32,562,681 (GRCm39) |
D383Y |
probably damaging |
Het |
| Cd248 |
T |
C |
19: 5,120,237 (GRCm39) |
L695P |
probably damaging |
Het |
| Cela1 |
T |
A |
15: 100,580,861 (GRCm39) |
N132Y |
probably damaging |
Het |
| Cisd2 |
A |
T |
3: 135,114,601 (GRCm39) |
D123E |
probably damaging |
Het |
| Col6a6 |
T |
A |
9: 105,615,435 (GRCm39) |
D1571V |
probably damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fbxo48 |
C |
T |
11: 16,904,280 (GRCm39) |
T144M |
probably damaging |
Het |
| Fbxo7 |
C |
A |
10: 85,883,890 (GRCm39) |
P497Q |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,925 (GRCm39) |
I596V |
probably benign |
Het |
| Gm12695 |
T |
A |
4: 96,657,905 (GRCm39) |
H88L |
possibly damaging |
Het |
| Gpat4 |
A |
G |
8: 23,670,680 (GRCm39) |
I133T |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,485,576 (GRCm39) |
|
probably null |
Het |
| Ncaph |
T |
C |
2: 126,965,595 (GRCm39) |
T252A |
probably benign |
Het |
| Nebl |
G |
T |
2: 17,439,783 (GRCm39) |
Y163* |
probably null |
Het |
| Neurod4 |
C |
T |
10: 130,106,936 (GRCm39) |
V113I |
possibly damaging |
Het |
| Or3a1d |
A |
T |
11: 74,237,740 (GRCm39) |
H103Q |
probably benign |
Het |
| Or4f56 |
T |
A |
2: 111,703,907 (GRCm39) |
I98F |
probably benign |
Het |
| Pbxip1 |
T |
A |
3: 89,350,466 (GRCm39) |
M37K |
probably benign |
Het |
| Phactr2 |
T |
C |
10: 13,137,590 (GRCm39) |
N184S |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,487,634 (GRCm39) |
P480L |
possibly damaging |
Het |
| Psme4 |
T |
C |
11: 30,765,246 (GRCm39) |
S538P |
possibly damaging |
Het |
| Rassf1 |
T |
A |
9: 107,438,614 (GRCm39) |
M228K |
possibly damaging |
Het |
| Rpn2 |
A |
G |
2: 157,139,303 (GRCm39) |
D231G |
probably damaging |
Het |
| She |
A |
T |
3: 89,739,097 (GRCm39) |
D96V |
probably damaging |
Het |
| Shisal1 |
C |
A |
15: 84,290,711 (GRCm39) |
V199L |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,749,627 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,562,702 (GRCm39) |
I28751F |
probably damaging |
Het |
| Zfp60 |
T |
G |
7: 27,447,940 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or13j1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02317:Or13j1
|
APN |
4 |
43,706,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Or13j1
|
UTSW |
4 |
43,706,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0597:Or13j1
|
UTSW |
4 |
43,706,592 (GRCm39) |
splice site |
probably null |
|
|
R0610:Or13j1
|
UTSW |
4 |
43,706,400 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1588:Or13j1
|
UTSW |
4 |
43,705,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1619:Or13j1
|
UTSW |
4 |
43,706,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Or13j1
|
UTSW |
4 |
43,706,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2871:Or13j1
|
UTSW |
4 |
43,706,458 (GRCm39) |
missense |
probably benign |
0.30 |
|
R2871:Or13j1
|
UTSW |
4 |
43,706,458 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4723:Or13j1
|
UTSW |
4 |
43,705,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4891:Or13j1
|
UTSW |
4 |
43,706,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5049:Or13j1
|
UTSW |
4 |
43,706,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5151:Or13j1
|
UTSW |
4 |
43,706,518 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5521:Or13j1
|
UTSW |
4 |
43,705,788 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6225:Or13j1
|
UTSW |
4 |
43,705,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Or13j1
|
UTSW |
4 |
43,706,334 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6883:Or13j1
|
UTSW |
4 |
43,705,723 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7185:Or13j1
|
UTSW |
4 |
43,706,082 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7339:Or13j1
|
UTSW |
4 |
43,706,080 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7502:Or13j1
|
UTSW |
4 |
43,706,316 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8052:Or13j1
|
UTSW |
4 |
43,705,884 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8797:Or13j1
|
UTSW |
4 |
43,706,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Or13j1
|
UTSW |
4 |
43,705,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Or13j1
|
UTSW |
4 |
43,705,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Or13j1
|
UTSW |
4 |
43,706,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGACCTGGTCTGAGATCCG -3'
(R):5'- TTTGCCAGCCACTCAGGTAC -3'
Sequencing Primer
(F):5'- CTGAGATCCGGGCTTCCTTG -3'
(R):5'- AGGTACCCCGTGCTCATGAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation