Incidental Mutation 'R5755:Or1e19'
| ID |
445003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e19
|
| Ensembl Gene |
ENSMUSG00000055971 |
| Gene Name |
olfactory receptor family 1 subfamily E member 19 |
| Synonyms |
MOR135-2, GA_x6K02T2P1NL-3586282-3585338, Olfr378 |
| MMRRC Submission |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.292)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73315863-73319303 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73316557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 84
(N84I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066971
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069790]
[ENSMUST00000117349]
|
| AlphaFold |
Q8VGT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069790
AA Change: N84I
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000066971
Gene: ENSMUSG00000055971
AA Change: N84I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.3e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
297 |
7.9e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.8e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117349
AA Change: N84I
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113524
Gene: ENSMUSG00000084387
AA Change: N84I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
297 |
7.9e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.3e-34 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
2.8e-40 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,725 (GRCm39) |
|
silent |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
Het |
|
| Other mutations in Or1e19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01996:Or1e19
|
APN |
11 |
73,316,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02427:Or1e19
|
APN |
11 |
73,316,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03089:Or1e19
|
APN |
11 |
73,316,009 (GRCm39) |
missense |
probably benign |
|
|
R0443:Or1e19
|
UTSW |
11 |
73,316,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1497:Or1e19
|
UTSW |
11 |
73,316,653 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2005:Or1e19
|
UTSW |
11 |
73,316,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2029:Or1e19
|
UTSW |
11 |
73,316,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2140:Or1e19
|
UTSW |
11 |
73,316,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3551:Or1e19
|
UTSW |
11 |
73,316,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3552:Or1e19
|
UTSW |
11 |
73,316,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4433:Or1e19
|
UTSW |
11 |
73,316,537 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4546:Or1e19
|
UTSW |
11 |
73,316,012 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4686:Or1e19
|
UTSW |
11 |
73,316,264 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5168:Or1e19
|
UTSW |
11 |
73,316,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5567:Or1e19
|
UTSW |
11 |
73,316,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7190:Or1e19
|
UTSW |
11 |
73,315,990 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7287:Or1e19
|
UTSW |
11 |
73,316,669 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7404:Or1e19
|
UTSW |
11 |
73,316,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7462:Or1e19
|
UTSW |
11 |
73,316,296 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7544:Or1e19
|
UTSW |
11 |
73,316,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Or1e19
|
UTSW |
11 |
73,324,175 (GRCm39) |
unclassified |
probably benign |
|
|
R8408:Or1e19
|
UTSW |
11 |
73,316,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8977:Or1e19
|
UTSW |
11 |
73,316,651 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0010:Or1e19
|
UTSW |
11 |
73,315,977 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1088:Or1e19
|
UTSW |
11 |
73,315,931 (GRCm39) |
splice site |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCAGCATGGCATGGAAG -3'
(R):5'- AGCAACTGTACTATGCCCTG -3'
Sequencing Primer
(F):5'- CATGGAAGGTGGTCAGCACC -3'
(R):5'- AACTGTACTATGCCCTGCTCCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation