Incidental Mutation 'R5132:Or10ag56'
| ID |
395856 |
| 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 |
042720-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R5132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87139108-87140103 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87139282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 50
(M50L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090717]
[ENSMUST00000121296]
[ENSMUST00000216396]
|
| AlphaFold |
A0A1L1STN9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090717
AA Change: M50L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: M50L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
22 |
298 |
1.1e-53 |
PFAM |
|
Pfam:7tm_1
|
32 |
281 |
1.1e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120328
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121296
AA Change: M50L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: M50L
| 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: M70L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.3654 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (41/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
A |
T |
1: 156,469,402 (GRCm39) |
K785* |
probably null |
Het |
| Acad11 |
A |
T |
9: 104,003,791 (GRCm39) |
I628L |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,355,516 (GRCm39) |
I98V |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,563,396 (GRCm39) |
|
probably benign |
Het |
| Calr3 |
C |
T |
8: 73,185,212 (GRCm39) |
|
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdc42ep3 |
C |
T |
17: 79,642,803 (GRCm39) |
R39H |
probably damaging |
Het |
| Cyp2j5 |
T |
C |
4: 96,517,733 (GRCm39) |
Y493C |
probably damaging |
Het |
| Ddx19b |
A |
T |
8: 111,749,040 (GRCm39) |
D66E |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,837,377 (GRCm39) |
D287G |
unknown |
Het |
| Gm8888 |
A |
G |
15: 96,664,892 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr25 |
G |
T |
1: 136,188,103 (GRCm39) |
A170E |
probably damaging |
Het |
| Gria1 |
A |
G |
11: 57,180,225 (GRCm39) |
Y656C |
probably damaging |
Het |
| Grik5 |
C |
T |
7: 24,764,629 (GRCm39) |
V145I |
probably benign |
Het |
| Htt |
T |
C |
5: 35,063,023 (GRCm39) |
V2885A |
possibly damaging |
Het |
| Larp6 |
A |
G |
9: 60,644,493 (GRCm39) |
E211G |
probably damaging |
Het |
| Magi1 |
C |
A |
6: 93,660,072 (GRCm39) |
|
probably null |
Het |
| Mtbp |
A |
G |
15: 55,421,965 (GRCm39) |
S63G |
possibly damaging |
Het |
| Ndor1 |
A |
T |
2: 25,137,781 (GRCm39) |
S513T |
probably benign |
Het |
| Nsd3 |
A |
G |
8: 26,168,855 (GRCm39) |
D670G |
possibly damaging |
Het |
| Or4k49 |
T |
A |
2: 111,495,344 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or5e1 |
T |
C |
7: 108,354,477 (GRCm39) |
V138A |
probably damaging |
Het |
| Pcdh7 |
T |
C |
5: 57,885,463 (GRCm39) |
V1061A |
probably benign |
Het |
| Pdia4 |
A |
G |
6: 47,773,669 (GRCm39) |
I560T |
probably benign |
Het |
| Pomt2 |
A |
G |
12: 87,157,121 (GRCm39) |
F733L |
probably damaging |
Het |
| Pprc1 |
T |
C |
19: 46,061,121 (GRCm39) |
|
probably benign |
Het |
| Prkca |
T |
C |
11: 108,082,943 (GRCm39) |
|
probably benign |
Het |
| Pspc1 |
A |
T |
14: 56,960,707 (GRCm39) |
S473T |
probably benign |
Het |
| Rgs12 |
A |
G |
5: 35,147,156 (GRCm39) |
|
probably benign |
Het |
| Scn3a |
C |
T |
2: 65,298,548 (GRCm39) |
V1384I |
probably benign |
Het |
| Serpinb6a |
C |
T |
13: 34,102,305 (GRCm39) |
D307N |
probably benign |
Het |
| Smap2 |
T |
C |
4: 120,830,370 (GRCm39) |
E255G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,517,178 (GRCm39) |
|
probably benign |
Het |
| St7 |
A |
T |
6: 17,854,956 (GRCm39) |
I298F |
probably damaging |
Het |
| Tgm7 |
A |
G |
2: 120,934,700 (GRCm39) |
F93L |
probably damaging |
Het |
| Timm23 |
A |
T |
14: 31,915,902 (GRCm39) |
D56E |
probably damaging |
Het |
| Tmem170 |
A |
T |
8: 112,596,357 (GRCm39) |
M56K |
probably benign |
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 |
|
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 |
|
R8156:Or10ag56
|
UTSW |
2 |
87,139,318 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- GAAAAGTTGAATGCCTCCACATTG -3'
(R):5'- ATCCAAGAGGCAGCTACCAG -3'
Sequencing Primer
(F):5'- GCCTCCACATTGATGGAATTTATTC -3'
(R):5'- CGATCATAGGCCATAGCTGCTAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation