Incidental Mutation 'R2473:Or4g16'
| ID |
253207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4g16
|
| Ensembl Gene |
ENSMUSG00000109813 |
| Gene Name |
olfactory receptor family 4 subfamily G member 16 |
| Synonyms |
Olfr1279, MOR245-12, GA_x6K02T2Q125-72357646-72358581 |
| MMRRC Submission |
040404-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R2473 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
111136546-111137487 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111137236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 229
(S229P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062407]
[ENSMUST00000090329]
[ENSMUST00000213823]
[ENSMUST00000216697]
|
| AlphaFold |
Q8VF38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062407
AA Change: S229P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052153
Gene: ENSMUSG00000108931
AA Change: S229P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
7.2e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
302 |
2.4e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090329
AA Change: S231P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000087801
Gene: ENSMUSG00000109813
AA Change: S231P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
306 |
1.7e-44 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
300 |
3.2e-5 |
PFAM |
|
Pfam:7tm_1
|
43 |
289 |
7.4e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213823
AA Change: S229P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216697
AA Change: S229P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b4 |
T |
G |
2: 126,200,814 (GRCm39) |
K785Q |
possibly damaging |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,392,404 (GRCm39) |
I184F |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,363,962 (GRCm39) |
D611E |
probably benign |
Het |
| Habp2 |
G |
A |
19: 56,276,464 (GRCm39) |
V13M |
possibly damaging |
Het |
| Mamdc4 |
C |
A |
2: 25,456,344 (GRCm39) |
G713V |
probably damaging |
Het |
| Marveld2 |
C |
T |
13: 100,733,829 (GRCm39) |
V269M |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,169,353 (GRCm39) |
M1508K |
probably benign |
Het |
| Mgp |
T |
C |
6: 136,850,162 (GRCm39) |
|
probably null |
Het |
| Mucl2 |
C |
G |
15: 103,927,628 (GRCm39) |
E110Q |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,926,500 (GRCm39) |
F286S |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,401 (GRCm39) |
T244A |
probably damaging |
Het |
| Or52h9 |
T |
C |
7: 104,202,146 (GRCm39) |
Y7H |
possibly damaging |
Het |
| Or5p70 |
C |
T |
7: 107,994,711 (GRCm39) |
A128V |
probably damaging |
Het |
| Pax3 |
C |
T |
1: 78,099,227 (GRCm39) |
|
probably null |
Het |
| Polm |
T |
C |
11: 5,779,881 (GRCm39) |
E339G |
possibly damaging |
Het |
| Sec14l4 |
T |
A |
11: 3,993,359 (GRCm39) |
V218E |
probably benign |
Het |
| Sf3b1 |
C |
T |
1: 55,038,785 (GRCm39) |
|
probably null |
Het |
| Six4 |
A |
G |
12: 73,150,949 (GRCm39) |
V532A |
probably benign |
Het |
| Slc35c1 |
T |
A |
2: 92,285,098 (GRCm39) |
D172V |
probably benign |
Het |
| Ttc39a |
A |
T |
4: 109,299,436 (GRCm39) |
I428F |
probably damaging |
Het |
| Zfp414 |
CAAACTCTTCCGA |
CAAACTCTTCCGAAACTCTTCCGA |
17: 33,849,551 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or4g16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Or4g16
|
APN |
2 |
111,136,966 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01355:Or4g16
|
APN |
2 |
111,137,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01864:Or4g16
|
APN |
2 |
111,137,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02160:Or4g16
|
APN |
2 |
111,137,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02183:Or4g16
|
APN |
2 |
111,136,763 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT4377001:Or4g16
|
UTSW |
2 |
111,137,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0280:Or4g16
|
UTSW |
2 |
111,137,417 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0636:Or4g16
|
UTSW |
2 |
111,136,757 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0732:Or4g16
|
UTSW |
2 |
111,137,325 (GRCm39) |
nonsense |
probably null |
|
|
R1661:Or4g16
|
UTSW |
2 |
111,137,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Or4g16
|
UTSW |
2 |
111,137,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2252:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Or4g16
|
UTSW |
2 |
111,136,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3408:Or4g16
|
UTSW |
2 |
111,136,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5020:Or4g16
|
UTSW |
2 |
111,136,637 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5634:Or4g16
|
UTSW |
2 |
111,137,437 (GRCm39) |
missense |
probably benign |
|
|
R5647:Or4g16
|
UTSW |
2 |
111,137,392 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6782:Or4g16
|
UTSW |
2 |
111,137,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Or4g16
|
UTSW |
2 |
111,136,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7135:Or4g16
|
UTSW |
2 |
111,137,365 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7167:Or4g16
|
UTSW |
2 |
111,136,793 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7452:Or4g16
|
UTSW |
2 |
111,137,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7563:Or4g16
|
UTSW |
2 |
111,137,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7582:Or4g16
|
UTSW |
2 |
111,136,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8949:Or4g16
|
UTSW |
2 |
111,137,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0021:Or4g16
|
UTSW |
2 |
111,136,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGGACAGCTTTTACTGCG -3'
(R):5'- CTGCTACAAACAGCCCTTTTG -3'
Sequencing Primer
(F):5'- GACTTCCCTCGGATCATACAACTGG -3'
(R):5'- ACAAACAGCCCTTTTGCTTAATC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation