Incidental Mutation 'IGL02995:Or12d13'
| ID |
407090 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or12d13
|
| Ensembl Gene |
ENSMUSG00000049618 |
| Gene Name |
olfactory receptor family 12 subfamily D member 13 |
| Synonyms |
MOR250-3, Olfr103, MOR250-8_p, GA_x6K02T2PSCP-1798423-1797482 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37647180-37648121 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37647600 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 174
(H174Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058826]
[ENSMUST00000173472]
|
| AlphaFold |
Q920Y8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058826
AA Change: H174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094934
Gene: ENSMUSG00000049618
AA Change: H174Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
307 |
3.5e-52 |
PFAM |
|
Pfam:7tm_1
|
39 |
289 |
3.8e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173472
AA Change: H174Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134539
Gene: ENSMUSG00000049618
AA Change: H174Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
289 |
2.8e-31 |
PFAM |
|
Pfam:7tm_4
|
137 |
282 |
1.1e-38 |
PFAM |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
| Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
Het |
|
| Other mutations in Or12d13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Or12d13
|
APN |
17 |
37,647,474 (GRCm39) |
nonsense |
probably null |
|
|
IGL01953:Or12d13
|
APN |
17 |
37,647,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02556:Or12d13
|
APN |
17 |
37,647,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02574:Or12d13
|
APN |
17 |
37,647,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02737:Or12d13
|
APN |
17 |
37,647,664 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1078:Or12d13
|
UTSW |
17 |
37,647,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1466:Or12d13
|
UTSW |
17 |
37,647,847 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1466:Or12d13
|
UTSW |
17 |
37,647,847 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3024:Or12d13
|
UTSW |
17 |
37,647,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3858:Or12d13
|
UTSW |
17 |
37,648,117 (GRCm39) |
nonsense |
probably null |
|
|
R4979:Or12d13
|
UTSW |
17 |
37,647,759 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5062:Or12d13
|
UTSW |
17 |
37,647,822 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5215:Or12d13
|
UTSW |
17 |
37,647,704 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5441:Or12d13
|
UTSW |
17 |
37,647,159 (GRCm39) |
splice site |
probably null |
|
|
R5453:Or12d13
|
UTSW |
17 |
37,647,953 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5525:Or12d13
|
UTSW |
17 |
37,647,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5660:Or12d13
|
UTSW |
17 |
37,647,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5859:Or12d13
|
UTSW |
17 |
37,647,260 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6211:Or12d13
|
UTSW |
17 |
37,647,599 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6958:Or12d13
|
UTSW |
17 |
37,647,308 (GRCm39) |
missense |
probably benign |
|
|
R7060:Or12d13
|
UTSW |
17 |
37,647,352 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7567:Or12d13
|
UTSW |
17 |
37,648,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7784:Or12d13
|
UTSW |
17 |
37,647,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7784:Or12d13
|
UTSW |
17 |
37,647,469 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7978:Or12d13
|
UTSW |
17 |
37,647,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8284:Or12d13
|
UTSW |
17 |
37,647,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8419:Or12d13
|
UTSW |
17 |
37,647,466 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8957:Or12d13
|
UTSW |
17 |
37,647,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9761:Or12d13
|
UTSW |
17 |
37,648,057 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Z1088:Or12d13
|
UTSW |
17 |
37,647,596 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation