Incidental Mutation 'R5234:Or12e10'
ID |
398184 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or12e10
|
Ensembl Gene |
ENSMUSG00000068814 |
Gene Name |
olfactory receptor family 12 subfamily E member 10 |
Synonyms |
Olfr1145, GA_x6K02T2Q125-49311440-49312384, MOR264-19 |
MMRRC Submission |
042806-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R5234 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
87640166-87641143 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 87641112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 316
(V316A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088209
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079711]
[ENSMUST00000090707]
|
AlphaFold |
A2AVC7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000079711
AA Change: V305A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000078649 Gene: ENSMUSG00000068814 AA Change: V305A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
37 |
314 |
3.4e-52 |
PFAM |
Pfam:7tm_1
|
47 |
296 |
1.3e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090707
AA Change: V316A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000088209 Gene: ENSMUSG00000068814 AA Change: V316A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
21 |
38 |
N/A |
INTRINSIC |
Pfam:7tm_4
|
48 |
325 |
6.2e-58 |
PFAM |
Pfam:7tm_1
|
58 |
307 |
1.5e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118227
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
G |
A |
1: 71,302,823 (GRCm39) |
T2132M |
probably damaging |
Het |
Abca8b |
A |
T |
11: 109,867,420 (GRCm39) |
F213I |
possibly damaging |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adamts6 |
A |
G |
13: 104,630,130 (GRCm39) |
Y1091C |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,588,230 (GRCm39) |
M586V |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,006,118 (GRCm39) |
S336P |
probably damaging |
Het |
Atp1a4 |
A |
T |
1: 172,054,737 (GRCm39) |
I964K |
possibly damaging |
Het |
Bcan |
A |
T |
3: 87,903,453 (GRCm39) |
D246E |
probably damaging |
Het |
Ccnf |
G |
A |
17: 24,453,411 (GRCm39) |
R343* |
probably null |
Het |
Col6a5 |
T |
C |
9: 105,741,404 (GRCm39) |
H2505R |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,242,930 (GRCm39) |
M72L |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,816,351 (GRCm39) |
T196A |
probably benign |
Het |
Dnajc19 |
T |
A |
3: 34,112,108 (GRCm39) |
I146F |
probably benign |
Het |
Espnl |
A |
G |
1: 91,272,515 (GRCm39) |
D581G |
probably benign |
Het |
Fam167a |
T |
C |
14: 63,689,787 (GRCm39) |
L28P |
probably damaging |
Het |
Fra10ac1 |
T |
C |
19: 38,204,294 (GRCm39) |
D94G |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,379,004 (GRCm39) |
H35R |
probably benign |
Het |
Gad1-ps |
T |
A |
10: 99,281,188 (GRCm39) |
|
noncoding transcript |
Het |
Garin2 |
T |
A |
12: 78,762,045 (GRCm39) |
Y236* |
probably null |
Het |
Idh2 |
A |
T |
7: 79,745,853 (GRCm39) |
V333E |
probably damaging |
Het |
Inpp5f |
A |
G |
7: 128,265,407 (GRCm39) |
I121V |
probably benign |
Het |
Itga1 |
A |
T |
13: 115,185,839 (GRCm39) |
Y54* |
probably null |
Het |
Lax1 |
A |
G |
1: 133,608,321 (GRCm39) |
V140A |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,279,933 (GRCm39) |
F28L |
probably benign |
Het |
Or1q1 |
T |
C |
2: 36,887,107 (GRCm39) |
V95A |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,627,666 (GRCm39) |
I1414V |
probably benign |
Het |
Ppp1r14b |
A |
G |
19: 6,954,227 (GRCm39) |
E115G |
possibly damaging |
Het |
Prune2 |
A |
G |
19: 17,096,032 (GRCm39) |
D512G |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,319,566 (GRCm39) |
I19V |
probably benign |
Het |
Pthlh |
C |
A |
6: 147,158,592 (GRCm39) |
G123W |
probably damaging |
Het |
Qars1 |
T |
A |
9: 108,391,364 (GRCm39) |
L572Q |
probably damaging |
Het |
Rubcn |
T |
C |
16: 32,656,828 (GRCm39) |
I516V |
probably damaging |
Het |
Sgsm3 |
A |
T |
15: 80,892,145 (GRCm39) |
S238C |
probably damaging |
Het |
Slc25a22 |
C |
A |
7: 141,014,116 (GRCm39) |
|
probably benign |
Het |
Slc4a1 |
G |
A |
11: 102,252,209 (GRCm39) |
R5W |
probably benign |
Het |
Tie1 |
G |
A |
4: 118,339,959 (GRCm39) |
T356I |
probably benign |
Het |
Tnn |
A |
T |
1: 159,972,569 (GRCm39) |
H344Q |
possibly damaging |
Het |
Tnrc6c |
G |
T |
11: 117,651,555 (GRCm39) |
V1693F |
probably benign |
Het |
Topaz1 |
C |
T |
9: 122,619,258 (GRCm39) |
T1285M |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,215,535 (GRCm39) |
S1822C |
probably damaging |
Het |
Ttll11 |
A |
C |
2: 35,830,745 (GRCm39) |
Y209D |
probably damaging |
Het |
Unc45a |
C |
G |
7: 79,978,547 (GRCm39) |
A634P |
probably benign |
Het |
Vmn2r4 |
C |
T |
3: 64,305,878 (GRCm39) |
V515I |
possibly damaging |
Het |
|
Other mutations in Or12e10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00901:Or12e10
|
APN |
2 |
87,640,992 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01335:Or12e10
|
APN |
2 |
87,640,790 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4418001:Or12e10
|
UTSW |
2 |
87,640,938 (GRCm39) |
missense |
probably damaging |
0.99 |
R1512:Or12e10
|
UTSW |
2 |
87,640,988 (GRCm39) |
missense |
probably benign |
0.23 |
R1700:Or12e10
|
UTSW |
2 |
87,641,112 (GRCm39) |
missense |
probably benign |
|
R2127:Or12e10
|
UTSW |
2 |
87,640,685 (GRCm39) |
missense |
probably benign |
0.09 |
R2162:Or12e10
|
UTSW |
2 |
87,640,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R3707:Or12e10
|
UTSW |
2 |
87,640,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4327:Or12e10
|
UTSW |
2 |
87,640,496 (GRCm39) |
missense |
probably benign |
0.00 |
R4422:Or12e10
|
UTSW |
2 |
87,640,989 (GRCm39) |
missense |
probably damaging |
0.97 |
R4854:Or12e10
|
UTSW |
2 |
87,640,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R5858:Or12e10
|
UTSW |
2 |
87,640,985 (GRCm39) |
missense |
probably benign |
0.22 |
R6229:Or12e10
|
UTSW |
2 |
87,640,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R6991:Or12e10
|
UTSW |
2 |
87,640,787 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7007:Or12e10
|
UTSW |
2 |
87,640,230 (GRCm39) |
missense |
probably damaging |
1.00 |
R7027:Or12e10
|
UTSW |
2 |
87,641,060 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7260:Or12e10
|
UTSW |
2 |
87,640,731 (GRCm39) |
missense |
probably damaging |
0.98 |
R7624:Or12e10
|
UTSW |
2 |
87,640,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R7794:Or12e10
|
UTSW |
2 |
87,640,818 (GRCm39) |
missense |
probably damaging |
0.97 |
R8029:Or12e10
|
UTSW |
2 |
87,640,376 (GRCm39) |
missense |
probably benign |
0.00 |
R8378:Or12e10
|
UTSW |
2 |
87,640,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R8399:Or12e10
|
UTSW |
2 |
87,640,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R8468:Or12e10
|
UTSW |
2 |
87,641,082 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8514:Or12e10
|
UTSW |
2 |
87,641,054 (GRCm39) |
missense |
probably damaging |
0.97 |
R9045:Or12e10
|
UTSW |
2 |
87,640,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R9446:Or12e10
|
UTSW |
2 |
87,640,199 (GRCm39) |
missense |
probably benign |
0.26 |
R9513:Or12e10
|
UTSW |
2 |
87,640,187 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9548:Or12e10
|
UTSW |
2 |
87,641,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R9749:Or12e10
|
UTSW |
2 |
87,640,202 (GRCm39) |
missense |
probably benign |
0.05 |
Z1088:Or12e10
|
UTSW |
2 |
87,641,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAAAGCCTTCTCCACTTG -3'
(R):5'- CTCATTGAAGATGAATGACCTTGCC -3'
Sequencing Primer
(F):5'- AAAAGCCTTCTCCACTTGTTCTTC -3'
(R):5'- TGACCTTGCCTAATACTAAGAGGC -3'
|
Posted On |
2016-07-06 |