Incidental Mutation 'R8156:Or10ag56'
| ID |
633303 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or10ag56
|
| Ensembl Gene |
ENSMUSG00000083706 |
| Gene Name |
olfactory receptor family 10 subfamily AG member 56 |
| Synonyms |
Olfr1118, GA_x6K02T2Q125-48795705-48796673, Olfr1118-ps, MOR264-22 |
| MMRRC Submission |
067582-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8156 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87139108-87140103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87139318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 82
(I82L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121296]
[ENSMUST00000216396]
|
| AlphaFold |
A0A1L1STN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121296
AA Change: I62L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: I62L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
22 |
298 |
1.2e-51 |
PFAM |
|
Pfam:7tm_1
|
32 |
281 |
7.2e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216396
AA Change: I82L
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.8%
|
| Validation Efficiency |
95% (40/42) |
| 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 |
|---|
| Alyref |
T |
C |
11: 120,489,074 (GRCm39) |
R31G |
probably benign |
Het |
| Arfgef2 |
GTGTGCAGAAACT |
GT |
2: 166,676,383 (GRCm39) |
92 |
probably null |
Het |
| Arhgap31 |
G |
T |
16: 38,445,991 (GRCm39) |
A118E |
probably damaging |
Het |
| Asb5 |
T |
A |
8: 55,003,541 (GRCm39) |
I21K |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,546,760 (GRCm39) |
I515V |
probably benign |
Het |
| Bend7 |
C |
T |
2: 4,757,665 (GRCm39) |
P236S |
probably benign |
Het |
| C4bp |
T |
C |
1: 130,566,824 (GRCm39) |
T351A |
probably benign |
Het |
| Cd1d2 |
T |
A |
3: 86,894,569 (GRCm39) |
|
probably null |
Het |
| Chd1 |
T |
A |
17: 15,981,666 (GRCm39) |
D1368E |
probably benign |
Het |
| Chrnb3 |
A |
G |
8: 27,883,682 (GRCm39) |
I140V |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,817,825 (GRCm39) |
D65G |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,432,625 (GRCm39) |
T843A |
possibly damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,986,317 (GRCm39) |
|
probably null |
Het |
| Dop1a |
A |
G |
9: 86,376,510 (GRCm39) |
D248G |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,723,388 (GRCm39) |
C197* |
probably null |
Het |
| Flg2 |
T |
C |
3: 93,127,390 (GRCm39) |
S2101P |
unknown |
Het |
| Foxg1 |
A |
G |
12: 49,431,429 (GRCm39) |
H54R |
unknown |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr35 |
A |
G |
1: 92,910,437 (GRCm39) |
T50A |
probably damaging |
Het |
| Gsta3 |
A |
T |
1: 21,330,322 (GRCm39) |
Y108F |
probably benign |
Het |
| Hdac4 |
G |
T |
1: 91,886,138 (GRCm39) |
A811E |
probably damaging |
Het |
| Hephl1 |
A |
T |
9: 14,972,210 (GRCm39) |
V910E |
possibly damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,280 (GRCm39) |
Y384F |
probably damaging |
Het |
| Kmt2a |
T |
C |
9: 44,733,686 (GRCm39) |
I2210M |
unknown |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,992,196 (GRCm39) |
|
probably null |
Het |
| Lsm4 |
G |
A |
8: 71,131,018 (GRCm39) |
G112S |
probably damaging |
Het |
| Myt1 |
T |
C |
2: 181,464,554 (GRCm39) |
|
probably null |
Het |
| Ndor1 |
T |
C |
2: 25,138,746 (GRCm39) |
R396G |
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Prdm2 |
A |
G |
4: 142,861,338 (GRCm39) |
S651P |
probably benign |
Het |
| Prkaa2 |
T |
C |
4: 104,909,172 (GRCm39) |
M91V |
probably benign |
Het |
| Pskh1 |
G |
A |
8: 106,640,226 (GRCm39) |
R302H |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,577,415 (GRCm39) |
T390A |
probably benign |
Het |
| Snx10 |
T |
C |
6: 51,538,999 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
T |
C |
10: 23,847,393 (GRCm39) |
C264R |
probably damaging |
Het |
| Tcf20 |
A |
G |
15: 82,737,138 (GRCm39) |
C1438R |
probably benign |
Het |
| Tfap2d |
A |
G |
1: 19,173,486 (GRCm39) |
T3A |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,609,975 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
A |
G |
9: 114,342,192 (GRCm39) |
S697P |
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,269,057 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,183 (GRCm39) |
Y9H |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,099,115 (GRCm39) |
H373L |
probably damaging |
Het |
|
| Other mutations in Or10ag56 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01328:Or10ag56
|
APN |
2 |
87,139,925 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01458:Or10ag56
|
APN |
2 |
87,139,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Or10ag56
|
APN |
2 |
87,139,471 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02748:Or10ag56
|
APN |
2 |
87,140,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03077:Or10ag56
|
APN |
2 |
87,140,056 (GRCm39) |
makesense |
probably null |
|
|
R0411:Or10ag56
|
UTSW |
2 |
87,139,402 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0525:Or10ag56
|
UTSW |
2 |
87,139,693 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1703:Or10ag56
|
UTSW |
2 |
87,139,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1750:Or10ag56
|
UTSW |
2 |
87,139,196 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2005:Or10ag56
|
UTSW |
2 |
87,139,792 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2090:Or10ag56
|
UTSW |
2 |
87,139,762 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3846:Or10ag56
|
UTSW |
2 |
87,139,526 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4011:Or10ag56
|
UTSW |
2 |
87,139,555 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4077:Or10ag56
|
UTSW |
2 |
87,139,208 (GRCm39) |
splice site |
probably null |
0.42 |
|
R5132:Or10ag56
|
UTSW |
2 |
87,139,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Or10ag56
|
UTSW |
2 |
87,139,126 (GRCm39) |
splice site |
probably null |
|
|
R7355:Or10ag56
|
UTSW |
2 |
87,139,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7405:Or10ag56
|
UTSW |
2 |
87,139,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7437:Or10ag56
|
UTSW |
2 |
87,139,687 (GRCm39) |
missense |
probably benign |
|
|
R7554:Or10ag56
|
UTSW |
2 |
87,139,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7609:Or10ag56
|
UTSW |
2 |
87,139,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8482:Or10ag56
|
UTSW |
2 |
87,139,726 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8558:Or10ag56
|
UTSW |
2 |
87,139,583 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9136:Or10ag56
|
UTSW |
2 |
87,139,219 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9229:Or10ag56
|
UTSW |
2 |
87,139,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9326:Or10ag56
|
UTSW |
2 |
87,139,730 (GRCm39) |
missense |
probably benign |
0.37 |
|
RF010:Or10ag56
|
UTSW |
2 |
87,139,184 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTGAATGCCTCCACATTGATG -3'
(R):5'- ATCCAAGAGGCAGCTACCAG -3'
Sequencing Primer
(F):5'- GCCTCCACATTGATGGAATTTATTC -3'
(R):5'- CTACCAGCTGTAAACACACTTTATTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation