Incidental Mutation 'R4464:Or12d17'
| ID |
330288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or12d17
|
| Ensembl Gene |
ENSMUSG00000029184 |
| Gene Name |
olfactory receptor family 12 subfamily D member 17 |
| Synonyms |
GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1 |
| MMRRC Submission |
041722-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R4464 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
37777099-37778043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37777742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 215
(S215F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031086]
[ENSMUST00000214668]
[ENSMUST00000214938]
[ENSMUST00000217602]
|
| AlphaFold |
Q8VG96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031086
AA Change: S215F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: S215F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
309 |
3.4e-54 |
PFAM |
|
Pfam:7tm_1
|
39 |
291 |
6.3e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214668
AA Change: S215F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214938
AA Change: S215F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217602
AA Change: S215F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.4392 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (35/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Abcc3 |
A |
G |
11: 94,249,612 (GRCm39) |
V1111A |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,830 (GRCm39) |
R304* |
probably null |
Het |
| Aldh8a1 |
C |
A |
10: 21,264,840 (GRCm39) |
|
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,597,003 (GRCm39) |
T1079A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,253,470 (GRCm39) |
Y204H |
probably damaging |
Het |
| Asnsd1 |
C |
A |
1: 53,391,686 (GRCm39) |
|
probably null |
Het |
| Atad5 |
T |
A |
11: 79,991,137 (GRCm39) |
|
probably null |
Het |
| Cst12 |
G |
A |
2: 148,631,437 (GRCm39) |
V53I |
possibly damaging |
Het |
| Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
| Dennd1a |
A |
T |
2: 38,133,402 (GRCm39) |
|
probably benign |
Het |
| Gm7535 |
C |
A |
17: 18,131,924 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| Ifngr1 |
G |
A |
10: 19,473,265 (GRCm39) |
V72I |
possibly damaging |
Het |
| Kifap3 |
C |
A |
1: 163,645,464 (GRCm39) |
Q269K |
probably benign |
Het |
| Krt86 |
G |
A |
15: 101,371,795 (GRCm39) |
D122N |
probably damaging |
Het |
| Lrrcc1 |
A |
G |
3: 14,622,378 (GRCm39) |
K694E |
probably damaging |
Het |
| Mbd4 |
A |
G |
6: 115,826,463 (GRCm39) |
L155S |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,560,762 (GRCm39) |
N772D |
probably benign |
Het |
| Prxl2a |
T |
A |
14: 40,719,832 (GRCm39) |
K127N |
probably damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,575 (GRCm39) |
N362Y |
possibly damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,215,881 (GRCm39) |
T1325I |
probably damaging |
Het |
| Rad51ap1 |
T |
C |
6: 126,911,731 (GRCm39) |
N52S |
possibly damaging |
Het |
| Rb1 |
C |
A |
14: 73,436,638 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
T |
C |
5: 53,226,524 (GRCm39) |
L490P |
probably damaging |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,694,134 (GRCm39) |
N207D |
probably benign |
Het |
| Stat1 |
T |
G |
1: 52,176,575 (GRCm39) |
D257E |
possibly damaging |
Het |
| Tkt |
A |
G |
14: 30,290,231 (GRCm39) |
T165A |
possibly damaging |
Het |
| Trim66 |
A |
T |
7: 109,076,897 (GRCm39) |
S347R |
possibly damaging |
Het |
| Zfp429 |
T |
C |
13: 67,538,617 (GRCm39) |
I276V |
probably benign |
Het |
|
| Other mutations in Or12d17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01813:Or12d17
|
APN |
17 |
37,777,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Or12d17
|
APN |
17 |
37,777,340 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02391:Or12d17
|
APN |
17 |
37,777,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02730:Or12d17
|
APN |
17 |
37,777,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02751:Or12d17
|
APN |
17 |
37,777,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02891:Or12d17
|
APN |
17 |
37,777,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03023:Or12d17
|
APN |
17 |
37,777,885 (GRCm39) |
missense |
probably benign |
|
|
IGL03343:Or12d17
|
APN |
17 |
37,777,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Or12d17
|
UTSW |
17 |
37,777,694 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0579:Or12d17
|
UTSW |
17 |
37,777,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1751:Or12d17
|
UTSW |
17 |
37,777,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1848:Or12d17
|
UTSW |
17 |
37,777,938 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2392:Or12d17
|
UTSW |
17 |
37,777,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4249:Or12d17
|
UTSW |
17 |
37,777,715 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4857:Or12d17
|
UTSW |
17 |
37,777,714 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4947:Or12d17
|
UTSW |
17 |
37,777,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5107:Or12d17
|
UTSW |
17 |
37,777,144 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5526:Or12d17
|
UTSW |
17 |
37,778,003 (GRCm39) |
missense |
unknown |
|
|
R6147:Or12d17
|
UTSW |
17 |
37,777,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6416:Or12d17
|
UTSW |
17 |
37,777,971 (GRCm39) |
nonsense |
probably null |
|
|
R7450:Or12d17
|
UTSW |
17 |
37,777,507 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Or12d17
|
UTSW |
17 |
37,777,457 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7822:Or12d17
|
UTSW |
17 |
37,777,994 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8041:Or12d17
|
UTSW |
17 |
37,777,540 (GRCm39) |
missense |
probably benign |
|
|
R8051:Or12d17
|
UTSW |
17 |
37,777,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9013:Or12d17
|
UTSW |
17 |
37,777,441 (GRCm39) |
missense |
probably benign |
0.13 |
|
X0063:Or12d17
|
UTSW |
17 |
37,777,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Or12d17
|
UTSW |
17 |
37,777,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or12d17
|
UTSW |
17 |
37,777,552 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTCTGTCATGACTGCTCAC -3'
(R):5'- ATATCAGTGGGTTCAGCACTGG -3'
Sequencing Primer
(F):5'- GTCATGACTGCTCACTTGAAC -3'
(R):5'- ACTGCACTGTAGATGATGGCCAC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation