Incidental Mutation 'IGL02730:Or12d17'
| ID |
305411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12d17
|
| Ensembl Gene |
ENSMUSG00000029184 |
| Gene Name |
olfactory receptor family 12 subfamily D member 17 |
| Synonyms |
GA_x6K02T2PSCP-1914078-1915022, Olfr109, MOR250-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL02730
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37777099-37778043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37777750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 218
(Y218N)
|
| 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: Y218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031086
Gene: ENSMUSG00000029184
AA Change: Y218N
| 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: Y218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214938
AA Change: Y218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217602
AA Change: Y218N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
C |
A |
5: 114,304,210 (GRCm39) |
|
probably benign |
Het |
| Ankib1 |
A |
T |
5: 3,752,995 (GRCm39) |
V651E |
probably damaging |
Het |
| BC051665 |
G |
A |
13: 60,932,826 (GRCm39) |
|
probably benign |
Het |
| Ces1d |
C |
T |
8: 93,912,644 (GRCm39) |
G265S |
probably benign |
Het |
| Dsg1c |
A |
C |
18: 20,407,887 (GRCm39) |
D411A |
probably damaging |
Het |
| Exosc5 |
T |
C |
7: 25,362,622 (GRCm39) |
I70T |
possibly damaging |
Het |
| Fgf20 |
T |
A |
8: 40,732,828 (GRCm39) |
L203F |
probably damaging |
Het |
| Gpsm1 |
T |
A |
2: 26,215,390 (GRCm39) |
V316E |
probably benign |
Het |
| Gtpbp1 |
T |
A |
15: 79,603,372 (GRCm39) |
D620E |
probably benign |
Het |
| Hs6st1 |
A |
G |
1: 36,142,709 (GRCm39) |
T215A |
probably damaging |
Het |
| Irgm2 |
T |
A |
11: 58,110,816 (GRCm39) |
M169K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,142,076 (GRCm39) |
S208P |
probably benign |
Het |
| Klra6 |
T |
C |
6: 129,999,660 (GRCm39) |
T103A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,235,506 (GRCm39) |
M870K |
probably damaging |
Het |
| Mapk1ip1l |
C |
T |
14: 47,548,377 (GRCm39) |
T175I |
possibly damaging |
Het |
| Meig1 |
A |
G |
2: 3,412,947 (GRCm39) |
Y25H |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,014,643 (GRCm39) |
F474L |
probably damaging |
Het |
| Nlrp4b |
T |
C |
7: 10,448,685 (GRCm39) |
F296S |
probably damaging |
Het |
| Or10d1b |
C |
T |
9: 39,613,534 (GRCm39) |
C177Y |
probably damaging |
Het |
| Or14c40 |
T |
C |
7: 86,313,275 (GRCm39) |
L135P |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,432 (GRCm39) |
L20F |
probably benign |
Het |
| Or5al6 |
C |
T |
2: 85,976,443 (GRCm39) |
V212M |
probably benign |
Het |
| Or5w15 |
T |
A |
2: 87,567,985 (GRCm39) |
I228F |
probably damaging |
Het |
| Or6z3 |
T |
C |
7: 6,464,123 (GRCm39) |
I205T |
possibly damaging |
Het |
| Or8s8 |
A |
G |
15: 98,354,317 (GRCm39) |
N42S |
probably damaging |
Het |
| Pds5b |
A |
G |
5: 150,704,217 (GRCm39) |
|
probably benign |
Het |
| Plekhg1 |
A |
G |
10: 3,823,242 (GRCm39) |
D70G |
possibly damaging |
Het |
| Rubcnl |
C |
T |
14: 75,287,588 (GRCm39) |
T624M |
probably damaging |
Het |
| Runx1t1 |
C |
T |
4: 13,860,019 (GRCm39) |
H317Y |
probably benign |
Het |
| Sec22a |
T |
C |
16: 35,134,470 (GRCm39) |
D282G |
probably damaging |
Het |
| Serpina3a |
T |
C |
12: 104,085,922 (GRCm39) |
F126L |
probably damaging |
Het |
| Serpinc1 |
A |
G |
1: 160,827,598 (GRCm39) |
D399G |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,219,896 (GRCm39) |
Y383H |
probably benign |
Het |
| Speer3 |
T |
A |
5: 13,843,285 (GRCm39) |
M64K |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stx1b |
C |
A |
7: 127,414,549 (GRCm39) |
R25L |
probably benign |
Het |
| Syt5 |
A |
G |
7: 4,545,356 (GRCm39) |
V181A |
probably damaging |
Het |
| Tspoap1 |
G |
T |
11: 87,672,535 (GRCm39) |
V1788F |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,880,646 (GRCm39) |
T427A |
possibly damaging |
Het |
| Vmn1r233 |
A |
G |
17: 21,214,057 (GRCm39) |
S298P |
possibly damaging |
Het |
| Xntrpc |
T |
C |
7: 101,731,319 (GRCm39) |
S353P |
probably damaging |
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 |
|
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 |
|
R4464:Or12d17
|
UTSW |
17 |
37,777,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation