Incidental Mutation 'R7717:Or2n1e'
| ID |
595000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2n1e
|
| Ensembl Gene |
ENSMUSG00000057443 |
| Gene Name |
olfactory receptor family 2 subfamily N member 1E |
| Synonyms |
MOR256-40P, Olfr138, Olfr89, GA_x6K02T2PSCP-2718585-2719523 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R7717 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
38585664-38586602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 38586471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 270
(Q270K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071871]
[ENSMUST00000172843]
[ENSMUST00000173841]
|
| AlphaFold |
Q7TRI7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071871
AA Change: Q270K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071767
Gene: ENSMUSG00000057443
AA Change: Q270K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
2.4e-33 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
8.1e-41 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000172843
AA Change: Q270K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133698
Gene: ENSMUSG00000057443
AA Change: Q270K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.5e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.9e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173841
AA Change: Q270K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133828
Gene: ENSMUSG00000057443
AA Change: Q270K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
123 |
1.7e-15 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
| Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
| Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
| Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
| Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
| Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
| Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
| Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
| Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
| Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
| Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
| Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
| Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
| Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
| Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
| Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
| Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
| Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
| Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
| Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
| Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
| Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
| Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
| Pnp |
G |
A |
14: 51,188,460 (GRCm39) |
M211I |
probably benign |
Het |
| Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
| Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
| Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
| Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
| Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
| Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly damaging |
Het |
|
| Other mutations in Or2n1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00885:Or2n1e
|
APN |
17 |
38,585,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01874:Or2n1e
|
APN |
17 |
38,586,408 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02209:Or2n1e
|
APN |
17 |
38,586,123 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03053:Or2n1e
|
APN |
17 |
38,585,682 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03168:Or2n1e
|
APN |
17 |
38,585,682 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0393:Or2n1e
|
UTSW |
17 |
38,585,774 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0667:Or2n1e
|
UTSW |
17 |
38,586,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1288:Or2n1e
|
UTSW |
17 |
38,586,114 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1567:Or2n1e
|
UTSW |
17 |
38,586,459 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1618:Or2n1e
|
UTSW |
17 |
38,586,557 (GRCm39) |
splice site |
probably null |
|
|
R1699:Or2n1e
|
UTSW |
17 |
38,585,932 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1748:Or2n1e
|
UTSW |
17 |
38,585,997 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1862:Or2n1e
|
UTSW |
17 |
38,586,235 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2251:Or2n1e
|
UTSW |
17 |
38,585,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3436:Or2n1e
|
UTSW |
17 |
38,586,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Or2n1e
|
UTSW |
17 |
38,586,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4732:Or2n1e
|
UTSW |
17 |
38,586,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4733:Or2n1e
|
UTSW |
17 |
38,586,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5404:Or2n1e
|
UTSW |
17 |
38,586,517 (GRCm39) |
nonsense |
probably null |
|
|
R5443:Or2n1e
|
UTSW |
17 |
38,585,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5683:Or2n1e
|
UTSW |
17 |
38,586,437 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R6058:Or2n1e
|
UTSW |
17 |
38,586,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6061:Or2n1e
|
UTSW |
17 |
38,585,772 (GRCm39) |
missense |
probably benign |
|
|
R6266:Or2n1e
|
UTSW |
17 |
38,586,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7520:Or2n1e
|
UTSW |
17 |
38,586,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7959:Or2n1e
|
UTSW |
17 |
38,586,602 (GRCm39) |
makesense |
probably null |
|
|
R8256:Or2n1e
|
UTSW |
17 |
38,586,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9241:Or2n1e
|
UTSW |
17 |
38,585,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9509:Or2n1e
|
UTSW |
17 |
38,586,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Or2n1e
|
UTSW |
17 |
38,586,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCTAGCACTTTCTGTGG -3'
(R):5'- CAGAAACGTTTTCAGACTGTTCTTC -3'
Sequencing Primer
(F):5'- ATTGTTCCTCTGTGCTTAATTCTTG -3'
(R):5'- TTCATAAACATAACCCACACTGTTG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation