Incidental Mutation 'IGL03049:Or7c70'
| ID |
409006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or7c70
|
| Ensembl Gene |
ENSMUSG00000051190 |
| Gene Name |
olfactory receptor family 7 subfamily C member 70 |
| Synonyms |
MOR142-2_p, Olfr1356, MOR142-1, GA_x6K02T2QGN0-2962025-2962987 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.236)
|
| Stock # |
IGL03049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
78682785-78683747 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78683356 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 131
(H131L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061289]
[ENSMUST00000205100]
|
| AlphaFold |
Q7TQU8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061289
AA Change: H131L
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054345
Gene: ENSMUSG00000051190
AA Change: H131L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.6e-58 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.4e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.5e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205100
AA Change: H131L
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144815
Gene: ENSMUSG00000051190
AA Change: H131L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.6e-58 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.4e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.5e-22 |
PFAM |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef19 |
A |
G |
4: 140,981,627 (GRCm39) |
H645R |
probably damaging |
Het |
| Asic5 |
A |
G |
3: 81,904,256 (GRCm39) |
|
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,789,845 (GRCm39) |
F424L |
probably damaging |
Het |
| Clca4a |
A |
T |
3: 144,676,516 (GRCm39) |
|
probably benign |
Het |
| Eif3k |
A |
G |
7: 28,670,858 (GRCm39) |
S178P |
possibly damaging |
Het |
| Elp2 |
C |
T |
18: 24,764,516 (GRCm39) |
T621I |
probably benign |
Het |
| Exoc3l4 |
T |
C |
12: 111,389,835 (GRCm39) |
S137P |
probably damaging |
Het |
| Gm14393 |
C |
A |
2: 174,903,581 (GRCm39) |
G109C |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,049,517 (GRCm39) |
V340A |
possibly damaging |
Het |
| Hic2 |
A |
G |
16: 17,075,800 (GRCm39) |
S210G |
probably benign |
Het |
| Lcn3 |
T |
A |
2: 25,655,586 (GRCm39) |
M1K |
probably null |
Het |
| Ldlr |
A |
G |
9: 21,657,115 (GRCm39) |
E692G |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,182,414 (GRCm39) |
N587S |
probably damaging |
Het |
| Msh2 |
T |
C |
17: 88,015,937 (GRCm39) |
F523S |
probably damaging |
Het |
| Mtmr4 |
T |
A |
11: 87,505,060 (GRCm39) |
I1185N |
probably damaging |
Het |
| Ncoa6 |
T |
A |
2: 155,260,934 (GRCm39) |
K519N |
probably damaging |
Het |
| Or4c103 |
C |
T |
2: 88,513,834 (GRCm39) |
V81M |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,298 (GRCm39) |
I146F |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,799,663 (GRCm39) |
T705A |
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,342,079 (GRCm39) |
D119G |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,495,056 (GRCm39) |
V395A |
probably damaging |
Het |
| Slc18b1 |
T |
C |
10: 23,698,844 (GRCm39) |
V338A |
probably benign |
Het |
| Usp10 |
A |
G |
8: 120,683,366 (GRCm39) |
T746A |
probably benign |
Het |
|
| Other mutations in Or7c70 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Or7c70
|
APN |
10 |
78,683,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Or7c70
|
APN |
10 |
78,683,431 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01576:Or7c70
|
APN |
10 |
78,683,207 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02314:Or7c70
|
APN |
10 |
78,683,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02474:Or7c70
|
APN |
10 |
78,682,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Or7c70
|
APN |
10 |
78,683,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03328:Or7c70
|
APN |
10 |
78,683,201 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1602:Or7c70
|
UTSW |
10 |
78,682,802 (GRCm39) |
missense |
probably benign |
|
|
R1722:Or7c70
|
UTSW |
10 |
78,682,805 (GRCm39) |
missense |
probably benign |
|
|
R2178:Or7c70
|
UTSW |
10 |
78,683,612 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3903:Or7c70
|
UTSW |
10 |
78,683,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3904:Or7c70
|
UTSW |
10 |
78,683,132 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4241:Or7c70
|
UTSW |
10 |
78,683,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4833:Or7c70
|
UTSW |
10 |
78,683,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Or7c70
|
UTSW |
10 |
78,682,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5527:Or7c70
|
UTSW |
10 |
78,683,609 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5606:Or7c70
|
UTSW |
10 |
78,683,395 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5977:Or7c70
|
UTSW |
10 |
78,683,572 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6219:Or7c70
|
UTSW |
10 |
78,683,093 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6996:Or7c70
|
UTSW |
10 |
78,683,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7136:Or7c70
|
UTSW |
10 |
78,683,615 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7782:Or7c70
|
UTSW |
10 |
78,683,447 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7996:Or7c70
|
UTSW |
10 |
78,683,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8955:Or7c70
|
UTSW |
10 |
78,683,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9330:Or7c70
|
UTSW |
10 |
78,683,153 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9427:Or7c70
|
UTSW |
10 |
78,682,906 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9474:Or7c70
|
UTSW |
10 |
78,682,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Or7c70
|
UTSW |
10 |
78,682,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Or7c70
|
UTSW |
10 |
78,683,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation