Incidental Mutation 'R4638:Or2ag17'
| ID |
350798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2ag17
|
| Ensembl Gene |
ENSMUSG00000096714 |
| Gene Name |
olfactory receptor family 2 subfamily AG member 17 |
| Synonyms |
MOR283-10P, GA_x6K02T2PBJ9-9168355-9167405, Olfr699 |
| MMRRC Submission |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
106389256-106390206 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 106390205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065024]
[ENSMUST00000215952]
[ENSMUST00000216307]
|
| AlphaFold |
Q7TRN3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000065024
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068023
Gene: ENSMUSG00000096714
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.3e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
303 |
2.1e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.1e-24 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000215952
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000216307
AA Change: M1K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9608 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Camk1g |
T |
A |
1: 193,038,667 (GRCm39) |
D85V |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
probably damaging |
Het |
|
| Other mutations in Or2ag17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Or2ag17
|
APN |
7 |
106,389,796 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02093:Or2ag17
|
APN |
7 |
106,390,030 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02404:Or2ag17
|
APN |
7 |
106,389,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03214:Or2ag17
|
APN |
7 |
106,389,552 (GRCm39) |
missense |
probably benign |
|
|
IGL03230:Or2ag17
|
APN |
7 |
106,389,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Or2ag17
|
UTSW |
7 |
106,390,030 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0523:Or2ag17
|
UTSW |
7 |
106,389,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Or2ag17
|
UTSW |
7 |
106,389,758 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1373:Or2ag17
|
UTSW |
7 |
106,389,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1482:Or2ag17
|
UTSW |
7 |
106,389,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1498:Or2ag17
|
UTSW |
7 |
106,389,623 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1500:Or2ag17
|
UTSW |
7 |
106,390,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2656:Or2ag17
|
UTSW |
7 |
106,389,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4163:Or2ag17
|
UTSW |
7 |
106,389,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5104:Or2ag17
|
UTSW |
7 |
106,389,539 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6216:Or2ag17
|
UTSW |
7 |
106,389,665 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6976:Or2ag17
|
UTSW |
7 |
106,389,434 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7129:Or2ag17
|
UTSW |
7 |
106,389,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7130:Or2ag17
|
UTSW |
7 |
106,389,389 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8104:Or2ag17
|
UTSW |
7 |
106,390,338 (GRCm39) |
start gained |
probably benign |
|
|
R8104:Or2ag17
|
UTSW |
7 |
106,390,337 (GRCm39) |
start gained |
probably benign |
|
|
R9057:Or2ag17
|
UTSW |
7 |
106,389,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9445:Or2ag17
|
UTSW |
7 |
106,389,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or2ag17
|
UTSW |
7 |
106,389,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCTTGGGGATAATAATTGATGTG -3'
(R):5'- CCACTTAGACACATCTTTCTTCAAG -3'
Sequencing Primer
(F):5'- TCTATGAGAGAGAGCTGCCC -3'
(R):5'- TACTGGAGTCCTGTTGAG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation