Incidental Mutation 'IGL02838:Or5b116'
| ID |
361745 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or5b116
|
| Ensembl Gene |
ENSMUSG00000096320 |
| Gene Name |
olfactory receptor family 5 subfamily B member 116 |
| Synonyms |
GA_x6K02T2RE5P-3777626-3778570, Olfr1471, MOR202-47_p, MOR202-38 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
IGL02838
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
13422378-13423322 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13423299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 308
(S308T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096203]
[ENSMUST00000217249]
[ENSMUST00000217482]
|
| AlphaFold |
F6QVZ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096203
AA Change: S308T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: S308T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.1e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
1.1e-8 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
4e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213561
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217249
AA Change: S308T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217482
AA Change: S308T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl4a |
T |
C |
12: 40,086,303 (GRCm39) |
E148G |
probably benign |
Het |
| AW551984 |
A |
T |
9: 39,505,939 (GRCm39) |
F419L |
probably damaging |
Het |
| Brpf3 |
G |
A |
17: 29,054,758 (GRCm39) |
R1100Q |
probably benign |
Het |
| Cacna1e |
A |
G |
1: 154,321,394 (GRCm39) |
C1222R |
probably damaging |
Het |
| Cacna2d3 |
T |
A |
14: 29,022,785 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,502,567 (GRCm39) |
M775L |
probably benign |
Het |
| Ccdc60 |
A |
G |
5: 116,272,169 (GRCm39) |
S422P |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,899,849 (GRCm39) |
N59Y |
probably damaging |
Het |
| Cfap61 |
T |
A |
2: 145,789,084 (GRCm39) |
C29* |
probably null |
Het |
| Fgd5 |
T |
A |
6: 91,964,655 (GRCm39) |
M138K |
probably benign |
Het |
| Gpr107 |
G |
A |
2: 31,104,329 (GRCm39) |
G545S |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,560,430 (GRCm39) |
A1897T |
probably damaging |
Het |
| Hcls1 |
A |
G |
16: 36,782,781 (GRCm39) |
D439G |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,843,965 (GRCm39) |
N146K |
possibly damaging |
Het |
| Itga5 |
C |
T |
15: 103,260,036 (GRCm39) |
A619T |
probably damaging |
Het |
| Maml3 |
A |
G |
3: 51,597,511 (GRCm39) |
F412L |
probably damaging |
Het |
| Mis18bp1 |
T |
C |
12: 65,183,600 (GRCm39) |
Y924C |
probably damaging |
Het |
| Mtss1 |
T |
C |
15: 58,953,364 (GRCm39) |
I5V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,797,631 (GRCm39) |
|
probably null |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Nts |
C |
T |
10: 102,318,290 (GRCm39) |
V138M |
probably damaging |
Het |
| Or4q3 |
A |
G |
14: 50,583,312 (GRCm39) |
S165P |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,153,128 (GRCm39) |
R900G |
probably damaging |
Het |
| Rbfa |
T |
C |
18: 80,236,050 (GRCm39) |
H233R |
probably benign |
Het |
| Rundc3a |
T |
A |
11: 102,288,521 (GRCm39) |
|
probably benign |
Het |
| Setdb1 |
G |
T |
3: 95,244,579 (GRCm39) |
|
probably null |
Het |
| Synpo |
T |
A |
18: 60,736,872 (GRCm39) |
N358I |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,908,606 (GRCm39) |
T1543S |
possibly damaging |
Het |
| Ugt1a8 |
T |
A |
1: 88,016,399 (GRCm39) |
Y271N |
probably benign |
Het |
| Vmn2r105 |
A |
C |
17: 20,447,847 (GRCm39) |
F326V |
probably damaging |
Het |
| Vps13c |
G |
A |
9: 67,883,133 (GRCm39) |
R3560H |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,801,595 (GRCm39) |
R3510Q |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,857,546 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or5b116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Or5b116
|
APN |
19 |
13,422,988 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01790:Or5b116
|
APN |
19 |
13,422,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02515:Or5b116
|
APN |
19 |
13,422,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Or5b116
|
APN |
19 |
13,422,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0267:Or5b116
|
UTSW |
19 |
13,422,792 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0524:Or5b116
|
UTSW |
19 |
13,423,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1584:Or5b116
|
UTSW |
19 |
13,423,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2253:Or5b116
|
UTSW |
19 |
13,422,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5267:Or5b116
|
UTSW |
19 |
13,422,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Or5b116
|
UTSW |
19 |
13,423,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6495:Or5b116
|
UTSW |
19 |
13,422,989 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7714:Or5b116
|
UTSW |
19 |
13,423,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7830:Or5b116
|
UTSW |
19 |
13,422,985 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7882:Or5b116
|
UTSW |
19 |
13,422,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7892:Or5b116
|
UTSW |
19 |
13,422,662 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Or5b116
|
UTSW |
19 |
13,423,213 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Posted On |
2015-12-18 |
Incidental Mutation