Incidental Mutation 'IGL01318:Or5b12'
| ID |
73934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b12
|
| Ensembl Gene |
ENSMUSG00000048456 |
| Gene Name |
olfactory receptor family 5 subfamily B member 12 |
| Synonyms |
GA_x6K02T2RE5P-3249780-3248836, MOR202-5, Olfr1448 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
IGL01318
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
12896727-12897671 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12897490 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 61
(L61P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054737]
[ENSMUST00000213177]
[ENSMUST00000213713]
[ENSMUST00000216888]
|
| AlphaFold |
Q8VFX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000054737
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055664
Gene: ENSMUSG00000048456
AA Change: L61P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
3.2e-54 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208769
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213177
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213713
AA Change: L61P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216888
AA Change: L61P
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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg10b |
T |
C |
15: 90,112,592 (GRCm39) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,608,554 (GRCm39) |
|
probably benign |
Het |
| Asap2 |
A |
G |
12: 21,297,296 (GRCm39) |
D585G |
probably null |
Het |
| Chaf1a |
G |
T |
17: 56,366,336 (GRCm39) |
|
probably benign |
Het |
| Ddhd1 |
A |
G |
14: 45,854,008 (GRCm39) |
S443P |
probably damaging |
Het |
| Dlk2 |
A |
G |
17: 46,613,390 (GRCm39) |
E215G |
probably damaging |
Het |
| Efhd2 |
T |
C |
4: 141,587,176 (GRCm39) |
N202S |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,384,853 (GRCm39) |
I308K |
probably damaging |
Het |
| Gm9848 |
T |
A |
13: 113,244,774 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
G |
A |
1: 150,594,991 (GRCm39) |
T1826I |
probably damaging |
Het |
| Htr5a |
T |
C |
5: 28,047,742 (GRCm39) |
V99A |
probably benign |
Het |
| Inha |
T |
G |
1: 75,486,572 (GRCm39) |
F289C |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,945,294 (GRCm39) |
V519A |
probably benign |
Het |
| Kcnma1 |
A |
T |
14: 23,364,390 (GRCm39) |
|
probably benign |
Het |
| Kctd1 |
A |
G |
18: 15,195,747 (GRCm39) |
V292A |
possibly damaging |
Het |
| Magea13 |
T |
A |
X: 57,964,829 (GRCm39) |
I196N |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,647,089 (GRCm39) |
|
probably benign |
Het |
| Mfap2 |
G |
T |
4: 140,742,856 (GRCm39) |
A175S |
possibly damaging |
Het |
| Milr1 |
G |
A |
11: 106,656,071 (GRCm39) |
A114T |
possibly damaging |
Het |
| Mogs |
G |
T |
6: 83,095,558 (GRCm39) |
V792F |
probably damaging |
Het |
| Nt5dc3 |
T |
A |
10: 86,661,089 (GRCm39) |
M418K |
possibly damaging |
Het |
| Or7d10 |
A |
G |
9: 19,832,054 (GRCm39) |
E183G |
probably benign |
Het |
| Or8h8 |
A |
T |
2: 86,753,293 (GRCm39) |
N194K |
probably benign |
Het |
| Osbpl10 |
G |
A |
9: 115,061,190 (GRCm39) |
W756* |
probably null |
Het |
| Pgam5 |
A |
G |
5: 110,413,391 (GRCm39) |
Y235H |
probably damaging |
Het |
| Pgm5 |
G |
T |
19: 24,793,842 (GRCm39) |
A274E |
probably damaging |
Het |
| Prex1 |
C |
A |
2: 166,411,260 (GRCm39) |
|
probably benign |
Het |
| Prps1l1 |
A |
T |
12: 35,035,377 (GRCm39) |
N164I |
probably benign |
Het |
| Ralbp1 |
C |
A |
17: 66,171,277 (GRCm39) |
R232L |
probably damaging |
Het |
| Rnaseh2a |
C |
T |
8: 85,691,752 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,529,200 (GRCm39) |
H1819L |
possibly damaging |
Het |
| Stom |
T |
A |
2: 35,226,889 (GRCm39) |
I15F |
probably benign |
Het |
| Tasor2 |
A |
C |
13: 3,625,067 (GRCm39) |
S946A |
possibly damaging |
Het |
| Tph1 |
T |
G |
7: 46,314,662 (GRCm39) |
T22P |
probably damaging |
Het |
| Uqcrfs1 |
A |
G |
13: 30,724,904 (GRCm39) |
I212T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,546,550 (GRCm39) |
I3442T |
probably benign |
Het |
| Vinac1 |
C |
A |
2: 128,880,622 (GRCm39) |
V435L |
probably benign |
Het |
| Vmn2r113 |
A |
G |
17: 23,177,309 (GRCm39) |
I698V |
probably benign |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,774 (GRCm39) |
I240V |
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,125,585 (GRCm39) |
T432A |
probably damaging |
Het |
|
| Other mutations in Or5b12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01730:Or5b12
|
APN |
19 |
12,896,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Or5b12
|
APN |
19 |
12,896,947 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02055:Or5b12
|
APN |
19 |
12,896,930 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0152:Or5b12
|
UTSW |
19 |
12,897,472 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0311:Or5b12
|
UTSW |
19 |
12,897,460 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0349:Or5b12
|
UTSW |
19 |
12,897,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1873:Or5b12
|
UTSW |
19 |
12,896,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2371:Or5b12
|
UTSW |
19 |
12,897,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3548:Or5b12
|
UTSW |
19 |
12,897,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4697:Or5b12
|
UTSW |
19 |
12,897,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5482:Or5b12
|
UTSW |
19 |
12,897,269 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5748:Or5b12
|
UTSW |
19 |
12,897,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Or5b12
|
UTSW |
19 |
12,897,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5795:Or5b12
|
UTSW |
19 |
12,897,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5952:Or5b12
|
UTSW |
19 |
12,897,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6228:Or5b12
|
UTSW |
19 |
12,897,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6273:Or5b12
|
UTSW |
19 |
12,896,764 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6341:Or5b12
|
UTSW |
19 |
12,896,843 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6343:Or5b12
|
UTSW |
19 |
12,896,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Or5b12
|
UTSW |
19 |
12,897,395 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7666:Or5b12
|
UTSW |
19 |
12,897,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7810:Or5b12
|
UTSW |
19 |
12,897,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7859:Or5b12
|
UTSW |
19 |
12,897,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7869:Or5b12
|
UTSW |
19 |
12,896,911 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8518:Or5b12
|
UTSW |
19 |
12,896,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9011:Or5b12
|
UTSW |
19 |
12,897,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Or5b12
|
UTSW |
19 |
12,897,667 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9162:Or5b12
|
UTSW |
19 |
12,897,024 (GRCm39) |
nonsense |
probably null |
|
|
R9273:Or5b12
|
UTSW |
19 |
12,897,446 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9279:Or5b12
|
UTSW |
19 |
12,897,309 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation