Incidental Mutation 'R3612:Or1e22'
| ID |
269267 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e22
|
| Ensembl Gene |
ENSMUSG00000072708 |
| Gene Name |
olfactory receptor family 1 subfamily E member 22 |
| Synonyms |
Olfr381, GA_x6K02T2P1NL-3646409-3645474, MOR135-4 |
| MMRRC Submission |
040672-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R3612 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73376713-73377648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73376766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 295
(R295G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078358]
[ENSMUST00000119863]
[ENSMUST00000214623]
[ENSMUST00000215358]
|
| AlphaFold |
Q5SSP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078358
AA Change: R295G
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000077467
Gene: ENSMUSG00000072708
AA Change: R295G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
1.3e-35 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
5.3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119863
AA Change: R295G
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113846
Gene: ENSMUSG00000072708
AA Change: R295G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.2e-57 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206673
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214623
AA Change: R295G
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215358
AA Change: R295G
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| Meta Mutation Damage Score |
0.1785 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (31/31) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,580,251 (GRCm39) |
V192A |
probably damaging |
Het |
| Acsm2 |
G |
C |
7: 119,190,553 (GRCm39) |
V90L |
probably damaging |
Het |
| Adam5 |
T |
C |
8: 25,308,105 (GRCm39) |
|
probably benign |
Het |
| Ankrd12 |
A |
T |
17: 66,290,542 (GRCm39) |
D1630E |
probably benign |
Het |
| Ccdc88c |
A |
T |
12: 100,905,332 (GRCm39) |
I1085N |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,270,256 (GRCm39) |
|
probably benign |
Het |
| Cdh19 |
A |
T |
1: 110,821,026 (GRCm39) |
C571S |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,377,443 (GRCm39) |
L1491* |
probably null |
Het |
| Cherp |
G |
A |
8: 73,215,840 (GRCm39) |
|
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,274,893 (GRCm39) |
S188G |
probably null |
Het |
| Ech1 |
C |
T |
7: 28,529,668 (GRCm39) |
R34C |
probably damaging |
Het |
| Erc2 |
T |
C |
14: 27,499,134 (GRCm39) |
S337P |
possibly damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fah |
A |
G |
7: 84,234,498 (GRCm39) |
V412A |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,473,545 (GRCm39) |
E131D |
probably benign |
Het |
| Glrb |
A |
G |
3: 80,769,337 (GRCm39) |
V130A |
possibly damaging |
Het |
| Gm4782 |
T |
A |
6: 50,585,610 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
C |
T |
14: 96,619,206 (GRCm39) |
|
probably null |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
G |
C |
11: 60,368,505 (GRCm39) |
D422H |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,961,653 (GRCm39) |
H360Q |
probably damaging |
Het |
| Ppargc1b |
T |
C |
18: 61,443,627 (GRCm39) |
N528S |
probably benign |
Het |
| Rprd2 |
G |
A |
3: 95,671,464 (GRCm39) |
P1313L |
probably damaging |
Het |
| Slc12a7 |
C |
A |
13: 73,958,042 (GRCm39) |
D955E |
probably benign |
Het |
| Slc9a2 |
G |
A |
1: 40,758,218 (GRCm39) |
|
probably null |
Het |
| Tex24 |
T |
A |
8: 27,835,201 (GRCm39) |
V243D |
probably benign |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,463 (GRCm39) |
T505A |
probably benign |
Het |
| Vps37a |
T |
C |
8: 40,997,977 (GRCm39) |
|
probably benign |
Het |
| Zmynd19 |
A |
G |
2: 24,841,492 (GRCm39) |
Y20C |
probably damaging |
Het |
|
| Other mutations in Or1e22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00156:Or1e22
|
APN |
11 |
73,377,398 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02867:Or1e22
|
APN |
11 |
73,376,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03202:Or1e22
|
APN |
11 |
73,377,351 (GRCm39) |
nonsense |
probably null |
|
|
R0207:Or1e22
|
UTSW |
11 |
73,377,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Or1e22
|
UTSW |
11 |
73,376,889 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1469:Or1e22
|
UTSW |
11 |
73,377,149 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1469:Or1e22
|
UTSW |
11 |
73,377,149 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1835:Or1e22
|
UTSW |
11 |
73,377,200 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2095:Or1e22
|
UTSW |
11 |
73,377,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3983:Or1e22
|
UTSW |
11 |
73,376,961 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4959:Or1e22
|
UTSW |
11 |
73,376,893 (GRCm39) |
nonsense |
probably null |
|
|
R4983:Or1e22
|
UTSW |
11 |
73,377,623 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5297:Or1e22
|
UTSW |
11 |
73,377,215 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5447:Or1e22
|
UTSW |
11 |
73,377,002 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5569:Or1e22
|
UTSW |
11 |
73,377,518 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5580:Or1e22
|
UTSW |
11 |
73,377,036 (GRCm39) |
missense |
probably benign |
|
|
R5711:Or1e22
|
UTSW |
11 |
73,377,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Or1e22
|
UTSW |
11 |
73,376,921 (GRCm39) |
nonsense |
probably null |
|
|
R6974:Or1e22
|
UTSW |
11 |
73,377,299 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7383:Or1e22
|
UTSW |
11 |
73,376,715 (GRCm39) |
makesense |
probably null |
|
|
R7661:Or1e22
|
UTSW |
11 |
73,377,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7748:Or1e22
|
UTSW |
11 |
73,376,994 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7913:Or1e22
|
UTSW |
11 |
73,377,224 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9400:Or1e22
|
UTSW |
11 |
73,376,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9666:Or1e22
|
UTSW |
11 |
73,376,885 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Or1e22
|
UTSW |
11 |
73,376,979 (GRCm39) |
missense |
probably benign |
0.36 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACTGAAGTACCCACACTTTGC -3'
(R):5'- TCTAAAGATTTCATCTACTCGGGC -3'
Sequencing Primer
(F):5'- GTACCCACACTTTGCAAATGGG -3'
(R):5'- GGGCCATACACAAGGTCTTCTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation