Incidental Mutation 'IGL02827:Or1f12'
| ID |
361265 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or1f12
|
| Ensembl Gene |
ENSMUSG00000048996 |
| Gene Name |
olfactory receptor family 1 subfamily F member 12 |
| Synonyms |
MOR130-2, GA_x6K02T2QHY8-11707053-11707994, Olfr1366 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
IGL02827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
21721144-21722197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 21721528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 216
(S216P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168629]
[ENSMUST00000175637]
[ENSMUST00000205976]
[ENSMUST00000218154]
|
| AlphaFold |
A0A1W2P740 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168629
AA Change: S201P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000132776
Gene: ENSMUSG00000048996
AA Change: S201P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
34 |
N/A |
INTRINSIC |
|
Pfam:7tm_4
|
46 |
323 |
1.1e-59 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
50 |
320 |
4e-7 |
PFAM |
|
Pfam:7tm_1
|
56 |
305 |
1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175637
AA Change: S201P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000135446
Gene: ENSMUSG00000048996
AA Change: S201P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:7TM_GPCR_Srsx
|
35 |
231 |
3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
237 |
8.7e-33 |
PFAM |
|
Pfam:7tm_4
|
139 |
240 |
2.9e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205976
AA Change: S201P
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218154
AA Change: S216P
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,845,699 (GRCm39) |
S1554P |
probably damaging |
Het |
| Actn2 |
A |
T |
13: 12,290,085 (GRCm39) |
L152Q |
probably damaging |
Het |
| Afg3l2 |
T |
C |
18: 67,559,015 (GRCm39) |
I369V |
probably damaging |
Het |
| Aqp6 |
G |
A |
15: 99,500,892 (GRCm39) |
G199S |
probably damaging |
Het |
| Asgr2 |
A |
G |
11: 69,987,723 (GRCm39) |
I74V |
probably benign |
Het |
| Cebpz |
T |
C |
17: 79,236,760 (GRCm39) |
R702G |
probably damaging |
Het |
| Cers1 |
C |
T |
8: 70,774,177 (GRCm39) |
P145S |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,434,153 (GRCm39) |
K202R |
probably benign |
Het |
| Gphn |
A |
T |
12: 78,655,994 (GRCm39) |
D407V |
probably damaging |
Het |
| Hnf1b |
A |
G |
11: 83,746,752 (GRCm39) |
K123E |
probably damaging |
Het |
| Ifitm10 |
T |
C |
7: 141,882,317 (GRCm39) |
D151G |
unknown |
Het |
| Ifna14 |
T |
A |
4: 88,489,601 (GRCm39) |
K145N |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,015,527 (GRCm39) |
C602Y |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,163 (GRCm39) |
E119G |
probably benign |
Het |
| Or10ak9 |
A |
T |
4: 118,726,157 (GRCm39) |
M60L |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,686,659 (GRCm39) |
R516L |
probably benign |
Het |
| Pramel31 |
C |
T |
4: 144,090,331 (GRCm39) |
A457V |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,518,849 (GRCm39) |
L48P |
possibly damaging |
Het |
| Samd4b |
G |
A |
7: 28,113,546 (GRCm39) |
R140C |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,635,085 (GRCm39) |
I717T |
probably benign |
Het |
| Sh3tc2 |
G |
A |
18: 62,146,230 (GRCm39) |
S1203N |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,678,592 (GRCm39) |
T132A |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,591 (GRCm39) |
I188M |
probably benign |
Het |
| Stk17b |
T |
C |
1: 53,815,701 (GRCm39) |
T33A |
probably benign |
Het |
| Stxbp3 |
A |
T |
3: 108,717,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Tmem60 |
T |
A |
5: 21,091,622 (GRCm39) |
F129Y |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,868,908 (GRCm39) |
D404G |
probably null |
Het |
| Unc79 |
A |
C |
12: 103,041,105 (GRCm39) |
S713R |
possibly damaging |
Het |
| Uox |
A |
C |
3: 146,302,951 (GRCm39) |
|
probably benign |
Het |
| Vmn2r68 |
T |
C |
7: 84,886,800 (GRCm39) |
D38G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,618,998 (GRCm39) |
D2856G |
possibly damaging |
Het |
| Vsig10l |
T |
C |
7: 43,114,293 (GRCm39) |
L205P |
probably damaging |
Het |
|
| Other mutations in Or1f12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02110:Or1f12
|
APN |
13 |
21,722,112 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0528:Or1f12
|
UTSW |
13 |
21,721,416 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1650:Or1f12
|
UTSW |
13 |
21,721,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Or1f12
|
UTSW |
13 |
21,721,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4936:Or1f12
|
UTSW |
13 |
21,721,357 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4963:Or1f12
|
UTSW |
13 |
21,722,152 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8117:Or1f12
|
UTSW |
13 |
21,722,122 (GRCm39) |
missense |
probably benign |
|
|
R9272:Or1f12
|
UTSW |
13 |
21,721,864 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
X0028:Or1f12
|
UTSW |
13 |
21,721,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or1f12
|
UTSW |
13 |
21,721,419 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation