Incidental Mutation 'R2918:Or1m1'
| ID |
255376 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1m1
|
| Ensembl Gene |
ENSMUSG00000054141 |
| Gene Name |
olfactory receptor family 1 subfamily M member 1 |
| Synonyms |
GA_x6K02T2PVTD-12498544-12497603, MTPCR51, Olfr24, MOR132-1 |
| MMRRC Submission |
040503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R2918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
18665988-18666929 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18666775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 52
(D52V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066997]
[ENSMUST00000216754]
|
| AlphaFold |
Q8VFM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066997
AA Change: D52V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064189
Gene: ENSMUSG00000054141
AA Change: D52V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
5.6e-64 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
9.2e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.2e-26 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212239
AA Change: D52V
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214366
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216754
AA Change: D52V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd5 |
A |
G |
2: 22,989,579 (GRCm39) |
N401D |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,644,829 (GRCm39) |
D679V |
possibly damaging |
Het |
| Akap8 |
A |
G |
17: 32,524,622 (GRCm39) |
V558A |
probably benign |
Het |
| Arrdc2 |
C |
T |
8: 71,290,171 (GRCm39) |
R170Q |
probably benign |
Het |
| Atg10 |
A |
T |
13: 91,189,027 (GRCm39) |
H94Q |
probably damaging |
Het |
| Atg4a-ps |
G |
A |
3: 103,552,837 (GRCm39) |
A168V |
probably damaging |
Het |
| Crb2 |
G |
T |
2: 37,673,395 (GRCm39) |
R97L |
probably benign |
Het |
| Dnaja1 |
C |
T |
4: 40,724,052 (GRCm39) |
A71V |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| G6pd2 |
A |
G |
5: 61,966,869 (GRCm39) |
R215G |
probably damaging |
Het |
| Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,254,805 (GRCm39) |
N159K |
possibly damaging |
Het |
| Mafa |
A |
G |
15: 75,619,147 (GRCm39) |
S209P |
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
| Myh14 |
T |
C |
7: 44,265,687 (GRCm39) |
D1564G |
possibly damaging |
Het |
| Ncor2 |
T |
A |
5: 125,102,824 (GRCm39) |
I1792F |
probably damaging |
Het |
| Nod2 |
T |
C |
8: 89,379,519 (GRCm39) |
F7L |
probably benign |
Het |
| Odad2 |
G |
A |
18: 7,222,625 (GRCm39) |
S548L |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,660 (GRCm39) |
S136P |
probably benign |
Het |
| Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
| Pak3 |
T |
C |
X: 142,547,972 (GRCm39) |
V318A |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,290,970 (GRCm39) |
T521A |
probably benign |
Het |
| Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
| Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
| Scp2d1 |
T |
A |
2: 144,665,868 (GRCm39) |
I69N |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,905,782 (GRCm39) |
S1288P |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,645,532 (GRCm39) |
S2019P |
probably damaging |
Het |
| Stxbp5l |
A |
T |
16: 37,021,004 (GRCm39) |
L630* |
probably null |
Het |
| Trim41 |
TTCCTCCTCCTCCTCCTCCTCCTCCTCC |
TTCCTCCTCCTCCTCCTCCTCCTCC |
11: 48,707,084 (GRCm39) |
|
probably benign |
Het |
| Trpc1 |
C |
T |
9: 95,605,182 (GRCm39) |
R159H |
probably damaging |
Het |
| Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
Het |
|
| Other mutations in Or1m1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02346:Or1m1
|
APN |
9 |
18,666,065 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02371:Or1m1
|
APN |
9 |
18,666,000 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02555:Or1m1
|
APN |
9 |
18,666,769 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL03025:Or1m1
|
APN |
9 |
18,666,665 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03259:Or1m1
|
APN |
9 |
18,666,811 (GRCm39) |
missense |
probably benign |
|
|
IGL03050:Or1m1
|
UTSW |
9 |
18,666,750 (GRCm39) |
nonsense |
probably null |
|
|
R0310:Or1m1
|
UTSW |
9 |
18,666,629 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0410:Or1m1
|
UTSW |
9 |
18,666,137 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2152:Or1m1
|
UTSW |
9 |
18,666,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Or1m1
|
UTSW |
9 |
18,666,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Or1m1
|
UTSW |
9 |
18,666,430 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5073:Or1m1
|
UTSW |
9 |
18,666,118 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5539:Or1m1
|
UTSW |
9 |
18,666,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5662:Or1m1
|
UTSW |
9 |
18,666,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6145:Or1m1
|
UTSW |
9 |
18,666,865 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7125:Or1m1
|
UTSW |
9 |
18,666,174 (GRCm39) |
nonsense |
probably null |
|
|
R7196:Or1m1
|
UTSW |
9 |
18,666,886 (GRCm39) |
nonsense |
probably null |
|
|
R7607:Or1m1
|
UTSW |
9 |
18,666,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9136:Or1m1
|
UTSW |
9 |
18,666,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or1m1
|
UTSW |
9 |
18,666,815 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACACTGTCCATGATGCC -3'
(R):5'- ATTAGCTCAGACAAGAACTGGATAG -3'
Sequencing Primer
(F):5'- GTACATCTGGGTCAGACAA -3'
(R):5'- AGTTAATTTGTTTTACCCTCACAACC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation