Incidental Mutation 'IGL00965:Or10h5'
| ID |
306607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or10h5
|
| Ensembl Gene |
ENSMUSG00000096169 |
| Gene Name |
olfactory receptor family 10 subfamily H member 5 |
| Synonyms |
Olfr1564, Gm4461 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
IGL00965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
33434235-33435325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33434947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 124
(V124M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150573
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000112162]
[ENSMUST00000208645]
[ENSMUST00000213642]
[ENSMUST00000213751]
[ENSMUST00000215450]
|
| AlphaFold |
K7N6V7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112162
AA Change: V127M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127247
Gene: ENSMUSG00000096169
AA Change: V127M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
312 |
3.3e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
263 |
1.5e-5 |
PFAM |
|
Pfam:7tm_1
|
44 |
297 |
5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208645
AA Change: V124M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213642
AA Change: V124M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213751
AA Change: V124M
PolyPhen 2
Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215450
AA Change: V124M
PolyPhen 2
Score 0.411 (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, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
C |
T |
2: 164,646,735 (GRCm39) |
M1I |
probably null |
Het |
| Adam33 |
T |
C |
2: 130,896,183 (GRCm39) |
|
probably benign |
Het |
| Adgrl1 |
C |
T |
8: 84,664,332 (GRCm39) |
T1236I |
probably damaging |
Het |
| Ago4 |
A |
G |
4: 126,387,107 (GRCm39) |
V832A |
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,536,319 (GRCm39) |
Y91* |
probably null |
Het |
| Atp9a |
C |
A |
2: 168,482,600 (GRCm39) |
V845L |
probably benign |
Het |
| Cfap100 |
C |
T |
6: 90,392,787 (GRCm39) |
E108K |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,655,860 (GRCm39) |
|
probably null |
Het |
| Cibar2 |
T |
C |
8: 120,893,429 (GRCm39) |
Q254R |
probably benign |
Het |
| Cilk1 |
A |
G |
9: 78,071,821 (GRCm39) |
I498V |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,110,789 (GRCm39) |
L1008* |
probably null |
Het |
| Gm42688 |
C |
T |
6: 83,080,373 (GRCm39) |
|
probably benign |
Het |
| H2-Eb2 |
T |
A |
17: 34,544,771 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
C |
2: 31,233,108 (GRCm39) |
V219A |
probably damaging |
Het |
| Hsf2 |
C |
T |
10: 57,388,196 (GRCm39) |
P447S |
probably damaging |
Het |
| Hsph1 |
A |
T |
5: 149,554,269 (GRCm39) |
I162N |
probably damaging |
Het |
| Il12rb2 |
T |
C |
6: 67,337,561 (GRCm39) |
T107A |
probably damaging |
Het |
| Lnx1 |
T |
A |
5: 74,846,378 (GRCm39) |
N24I |
probably benign |
Het |
| Mgat3 |
C |
A |
15: 80,096,634 (GRCm39) |
A487D |
probably damaging |
Het |
| Or52ae9 |
T |
A |
7: 103,390,172 (GRCm39) |
I92F |
probably benign |
Het |
| Or6b2 |
T |
C |
1: 92,407,746 (GRCm39) |
D199G |
probably damaging |
Het |
| Or6c65 |
T |
A |
10: 129,603,455 (GRCm39) |
L30Q |
probably null |
Het |
| Ppargc1b |
A |
G |
18: 61,456,235 (GRCm39) |
Y75H |
probably damaging |
Het |
| Rgl2 |
G |
T |
17: 34,154,910 (GRCm39) |
C638F |
probably benign |
Het |
| Rhpn1 |
C |
A |
15: 75,583,735 (GRCm39) |
R407S |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,174,613 (GRCm39) |
S1222P |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,468,642 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
G |
A |
15: 76,516,080 (GRCm39) |
|
probably benign |
Het |
| Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
| Vmn2r13 |
A |
C |
5: 109,303,964 (GRCm39) |
F822L |
probably damaging |
Het |
|
| Other mutations in Or10h5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0079:Or10h5
|
UTSW |
17 |
33,435,079 (GRCm39) |
missense |
probably benign |
0.14 |
|
R0939:Or10h5
|
UTSW |
17 |
33,434,635 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1279:Or10h5
|
UTSW |
17 |
33,435,300 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2167:Or10h5
|
UTSW |
17 |
33,434,542 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2866:Or10h5
|
UTSW |
17 |
33,435,252 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4738:Or10h5
|
UTSW |
17 |
33,434,784 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4976:Or10h5
|
UTSW |
17 |
33,434,728 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6452:Or10h5
|
UTSW |
17 |
33,434,919 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6721:Or10h5
|
UTSW |
17 |
33,434,508 (GRCm39) |
missense |
probably benign |
|
|
R7322:Or10h5
|
UTSW |
17 |
33,434,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8032:Or10h5
|
UTSW |
17 |
33,434,924 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8470:Or10h5
|
UTSW |
17 |
33,434,868 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9560:Or10h5
|
UTSW |
17 |
33,434,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9562:Or10h5
|
UTSW |
17 |
33,434,415 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9753:Or10h5
|
UTSW |
17 |
33,434,688 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
| Posted On |
2015-04-16 |
Incidental Mutation