Incidental Mutation 'R1112:Or1e34'
| ID |
96863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e34
|
| Ensembl Gene |
ENSMUSG00000056921 |
| Gene Name |
olfactory receptor family 1 subfamily E member 34 |
| Synonyms |
GA_x6K02T2P1NL-4043306-4042374, Olfr394, MOR135-8 |
| MMRRC Submission |
039185-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R1112 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
73778264-73779196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 73779060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 46
(L46R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071478]
[ENSMUST00000214284]
[ENSMUST00000216608]
|
| AlphaFold |
Q8VGR5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071478
AA Change: L46R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000071415
Gene: ENSMUSG00000056921
AA Change: L46R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
1.4e-55 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
4e-7 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214284
AA Change: L46R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216608
AA Change: L46R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak7 |
A |
G |
12: 105,679,831 (GRCm39) |
N122D |
probably benign |
Het |
| Arb2a |
A |
G |
13: 77,910,005 (GRCm39) |
Y40C |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,841,081 (GRCm39) |
D1161G |
probably benign |
Het |
| Bscl2 |
G |
C |
19: 8,817,098 (GRCm39) |
G9R |
possibly damaging |
Het |
| Clstn2 |
T |
C |
9: 97,340,281 (GRCm39) |
N697S |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,922,026 (GRCm39) |
V884A |
probably damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,097 (GRCm39) |
Q21L |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Foxn1 |
A |
G |
11: 78,261,856 (GRCm39) |
F171S |
probably benign |
Het |
| Fxr2 |
A |
G |
11: 69,543,074 (GRCm39) |
S624G |
probably damaging |
Het |
| Gorasp2 |
C |
A |
2: 70,521,158 (GRCm39) |
P376Q |
probably benign |
Het |
| Gpr33 |
A |
G |
12: 52,070,155 (GRCm39) |
S295P |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Hap1 |
C |
T |
11: 100,245,143 (GRCm39) |
V23M |
probably damaging |
Het |
| Hsd3b5 |
C |
T |
3: 98,537,393 (GRCm39) |
R41Q |
probably benign |
Het |
| Kif1c |
T |
G |
11: 70,615,641 (GRCm39) |
|
probably null |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Madd |
A |
G |
2: 90,973,944 (GRCm39) |
C1447R |
probably damaging |
Het |
| Myef2 |
A |
C |
2: 124,939,506 (GRCm39) |
M426R |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,245,576 (GRCm39) |
D1072V |
probably damaging |
Het |
| Or51a5 |
C |
T |
7: 102,771,611 (GRCm39) |
D123N |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,823,584 (GRCm39) |
N90K |
probably damaging |
Het |
| Padi4 |
C |
T |
4: 140,485,427 (GRCm39) |
S246N |
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,652,821 (GRCm39) |
T430S |
possibly damaging |
Het |
| Prkd3 |
T |
C |
17: 79,273,837 (GRCm39) |
D473G |
probably damaging |
Het |
| Scn4a |
T |
C |
11: 106,211,292 (GRCm39) |
Y1575C |
probably damaging |
Het |
| Serpinb6d |
A |
G |
13: 33,853,118 (GRCm39) |
Y170C |
probably damaging |
Het |
| Slc12a2 |
A |
T |
18: 58,070,824 (GRCm39) |
I1059L |
probably benign |
Het |
| Slc36a4 |
T |
A |
9: 15,634,811 (GRCm39) |
F118I |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Srpra |
A |
G |
9: 35,126,255 (GRCm39) |
T483A |
probably benign |
Het |
| Sycp2 |
A |
T |
2: 177,994,329 (GRCm39) |
D1198E |
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,939,412 (GRCm39) |
N287D |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,212,627 (GRCm39) |
D905G |
possibly damaging |
Het |
| Zfp692 |
T |
C |
11: 58,202,388 (GRCm39) |
L381P |
probably damaging |
Het |
|
| Other mutations in Or1e34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Or1e34
|
APN |
11 |
73,779,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01655:Or1e34
|
APN |
11 |
73,778,753 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02173:Or1e34
|
APN |
11 |
73,778,949 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02308:Or1e34
|
APN |
11 |
73,779,121 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02656:Or1e34
|
APN |
11 |
73,778,865 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0079:Or1e34
|
UTSW |
11 |
73,778,563 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0119:Or1e34
|
UTSW |
11 |
73,778,656 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0136:Or1e34
|
UTSW |
11 |
73,778,656 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0136:Or1e34
|
UTSW |
11 |
73,778,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0255:Or1e34
|
UTSW |
11 |
73,778,655 (GRCm39) |
missense |
probably benign |
|
|
R0545:Or1e34
|
UTSW |
11 |
73,778,843 (GRCm39) |
nonsense |
probably null |
|
|
R0599:Or1e34
|
UTSW |
11 |
73,778,730 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0655:Or1e34
|
UTSW |
11 |
73,778,631 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0657:Or1e34
|
UTSW |
11 |
73,778,656 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0657:Or1e34
|
UTSW |
11 |
73,778,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0720:Or1e34
|
UTSW |
11 |
73,778,688 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2353:Or1e34
|
UTSW |
11 |
73,778,660 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2924:Or1e34
|
UTSW |
11 |
73,778,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4583:Or1e34
|
UTSW |
11 |
73,778,629 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5231:Or1e34
|
UTSW |
11 |
73,778,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5537:Or1e34
|
UTSW |
11 |
73,778,523 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5806:Or1e34
|
UTSW |
11 |
73,778,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7131:Or1e34
|
UTSW |
11 |
73,778,780 (GRCm39) |
nonsense |
probably null |
|
|
R7325:Or1e34
|
UTSW |
11 |
73,779,101 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7361:Or1e34
|
UTSW |
11 |
73,778,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9446:Or1e34
|
UTSW |
11 |
73,778,530 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9711:Or1e34
|
UTSW |
11 |
73,778,696 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATATTTGTGCCAGGCAACCTCC -3'
(R):5'- ATCTAGTTACCCAGGGTGAGCAGG -3'
Sequencing Primer
(F):5'- GCAACCTCCATAGGGGATG -3'
(R):5'- agaagaagaagaggaagaaggag -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation