Incidental Mutation 'IGL01638:Or8d6'
| ID |
93123 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or8d6
|
| Ensembl Gene |
ENSMUSG00000051493 |
| Gene Name |
olfactory receptor family 8 subfamily D member 6 |
| Synonyms |
Olfr974, GA_x6K02T2PVTD-33640290-33641222, MOR171-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL01638
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
39853355-39854490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39853816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 87
(S87P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062833]
[ENSMUST00000213246]
|
| AlphaFold |
Q8VH09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062833
AA Change: S87P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000062985
Gene: ENSMUSG00000051493
AA Change: S87P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
3.6e-52 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213246
AA Change: S87P
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| 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 |
|---|
| Adamts9 |
T |
C |
6: 92,849,409 (GRCm39) |
T436A |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,598,832 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
A |
G |
4: 153,516,693 (GRCm39) |
V216A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,143,323 (GRCm39) |
I124F |
probably damaging |
Het |
| Arfgef2 |
G |
A |
2: 166,715,865 (GRCm39) |
V1385M |
probably damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,225,138 (GRCm39) |
K65E |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,028,460 (GRCm39) |
N2377D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,298,456 (GRCm39) |
F1260S |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,224,958 (GRCm39) |
C954S |
probably damaging |
Het |
| Fcmr |
A |
T |
1: 130,802,859 (GRCm39) |
E157D |
probably benign |
Het |
| Gm4204 |
A |
T |
1: 135,160,873 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmn |
A |
T |
14: 56,406,476 (GRCm39) |
D16E |
probably benign |
Het |
| Krt86 |
A |
C |
15: 101,373,353 (GRCm39) |
|
probably benign |
Het |
| Macc1 |
T |
C |
12: 119,410,246 (GRCm39) |
L338P |
probably benign |
Het |
| Ms4a6d |
A |
T |
19: 11,564,532 (GRCm39) |
L113Q |
probably damaging |
Het |
| Myh15 |
T |
C |
16: 48,889,843 (GRCm39) |
S145P |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,724 (GRCm39) |
K518E |
probably damaging |
Het |
| Parp11 |
T |
A |
6: 127,468,492 (GRCm39) |
F181I |
probably benign |
Het |
| Ppil1 |
C |
A |
17: 29,480,766 (GRCm39) |
K52N |
probably benign |
Het |
| Prl5a1 |
T |
A |
13: 28,329,422 (GRCm39) |
C34S |
possibly damaging |
Het |
| Prss55 |
A |
G |
14: 64,314,636 (GRCm39) |
V178A |
probably benign |
Het |
| S100a7a |
A |
G |
3: 90,562,837 (GRCm39) |
D8G |
probably benign |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,862 (GRCm39) |
V310A |
possibly damaging |
Het |
| Slc22a7 |
T |
C |
17: 46,748,920 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
A |
G |
18: 58,740,885 (GRCm39) |
D482G |
probably damaging |
Het |
| Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
| Specc1l |
T |
A |
10: 75,082,039 (GRCm39) |
Y478* |
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,038,711 (GRCm39) |
|
probably null |
Het |
| Tcerg1l |
G |
A |
7: 137,881,805 (GRCm39) |
R295C |
probably damaging |
Het |
| Trpv1 |
T |
C |
11: 73,144,155 (GRCm39) |
I637T |
probably damaging |
Het |
| Ttc7 |
A |
C |
17: 87,666,540 (GRCm39) |
|
probably null |
Het |
| Vmn1r6 |
C |
T |
6: 56,980,177 (GRCm39) |
Q280* |
probably null |
Het |
|
| Other mutations in Or8d6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01095:Or8d6
|
APN |
9 |
39,853,976 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02826:Or8d6
|
APN |
9 |
39,854,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Or8d6
|
APN |
9 |
39,854,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H2330:Or8d6
|
UTSW |
9 |
39,854,216 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0005:Or8d6
|
UTSW |
9 |
39,854,252 (GRCm39) |
missense |
probably benign |
|
|
R0106:Or8d6
|
UTSW |
9 |
39,854,119 (GRCm39) |
frame shift |
probably null |
|
|
R1769:Or8d6
|
UTSW |
9 |
39,854,251 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1870:Or8d6
|
UTSW |
9 |
39,854,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4416:Or8d6
|
UTSW |
9 |
39,853,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Or8d6
|
UTSW |
9 |
39,853,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4860:Or8d6
|
UTSW |
9 |
39,853,800 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5105:Or8d6
|
UTSW |
9 |
39,853,694 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5273:Or8d6
|
UTSW |
9 |
39,853,853 (GRCm39) |
missense |
probably benign |
|
|
R6520:Or8d6
|
UTSW |
9 |
39,853,658 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7203:Or8d6
|
UTSW |
9 |
39,853,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7923:Or8d6
|
UTSW |
9 |
39,854,263 (GRCm39) |
nonsense |
probably null |
|
|
R8037:Or8d6
|
UTSW |
9 |
39,854,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8038:Or8d6
|
UTSW |
9 |
39,854,177 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8712:Or8d6
|
UTSW |
9 |
39,853,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-12-09 |
Incidental Mutation