Incidental Mutation 'IGL02303:Or51ag1'
| ID |
287463 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51ag1
|
| Ensembl Gene |
ENSMUSG00000045584 |
| Gene Name |
olfactory receptor family 51 subfamily AG member 1 |
| Synonyms |
GA_x6K02T2PBJ9-6221839-6220892, Olfr610, MOR9-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
IGL02303
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
103155204-103156151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103155295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 286
(M286K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150921
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063109]
[ENSMUST00000217627]
|
| AlphaFold |
E9Q598 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063109
AA Change: M286K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000052577
Gene: ENSMUSG00000045584
AA Change: M286K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
313 |
3.5e-106 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
310 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
1.4e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217627
AA Change: M286K
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,045,376 (GRCm39) |
F319S |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,827 (GRCm39) |
D922G |
unknown |
Het |
| Bhlhe41 |
A |
T |
6: 145,809,882 (GRCm39) |
H107Q |
probably damaging |
Het |
| Csmd2 |
C |
A |
4: 128,262,801 (GRCm39) |
H662Q |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,932,021 (GRCm39) |
V1463A |
probably benign |
Het |
| Ebf3 |
A |
T |
7: 136,911,094 (GRCm39) |
V140E |
probably benign |
Het |
| Havcr2 |
T |
A |
11: 46,370,108 (GRCm39) |
|
probably benign |
Het |
| Hexb |
G |
A |
13: 97,313,401 (GRCm39) |
A485V |
probably damaging |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,473 (GRCm39) |
Q57L |
probably damaging |
Het |
| Ipo5 |
T |
A |
14: 121,154,795 (GRCm39) |
S40T |
probably benign |
Het |
| Kcnj8 |
A |
G |
6: 142,515,837 (GRCm39) |
M90T |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,087,495 (GRCm39) |
L937Q |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,515,155 (GRCm39) |
L2896R |
probably damaging |
Het |
| Ldlrap1 |
A |
T |
4: 134,484,706 (GRCm39) |
I96N |
probably damaging |
Het |
| Leo1 |
A |
G |
9: 75,353,281 (GRCm39) |
|
probably benign |
Het |
| Mbnl2 |
T |
C |
14: 120,642,059 (GRCm39) |
M341T |
probably benign |
Het |
| Nfatc2 |
G |
A |
2: 168,348,821 (GRCm39) |
R669* |
probably null |
Het |
| Nhlrc2 |
T |
A |
19: 56,563,280 (GRCm39) |
V293E |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,831,276 (GRCm39) |
F68S |
possibly damaging |
Het |
| Or2at1 |
A |
G |
7: 99,417,179 (GRCm39) |
D270G |
possibly damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,586,770 (GRCm39) |
Q61R |
possibly damaging |
Het |
| Otoa |
T |
A |
7: 120,732,147 (GRCm39) |
|
probably null |
Het |
| Pcnt |
T |
C |
10: 76,278,393 (GRCm39) |
|
probably benign |
Het |
| Recql4 |
G |
T |
15: 76,592,771 (GRCm39) |
Q307K |
possibly damaging |
Het |
| Sp140 |
T |
A |
1: 85,570,730 (GRCm39) |
Y453* |
probably null |
Het |
| Sspo |
G |
A |
6: 48,461,639 (GRCm39) |
V3600I |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,619 (GRCm39) |
E441G |
probably benign |
Het |
| Syne3 |
A |
T |
12: 104,929,553 (GRCm39) |
H222Q |
probably damaging |
Het |
| Tef |
T |
C |
15: 81,705,496 (GRCm39) |
V173A |
probably benign |
Het |
| Tlcd1 |
A |
G |
11: 78,071,160 (GRCm39) |
|
probably null |
Het |
| Tmod4 |
C |
A |
3: 95,032,953 (GRCm39) |
Q30K |
probably benign |
Het |
| Tpgs1 |
T |
C |
10: 79,511,322 (GRCm39) |
Y155H |
probably damaging |
Het |
| Trib3 |
G |
A |
2: 152,185,070 (GRCm39) |
P60S |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,560,550 (GRCm39) |
T20957S |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,460 (GRCm39) |
|
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,852,763 (GRCm39) |
|
probably benign |
Het |
| Zc3h4 |
T |
C |
7: 16,168,002 (GRCm39) |
S704P |
unknown |
Het |
| Zfp644 |
G |
A |
5: 106,785,180 (GRCm39) |
R456W |
probably damaging |
Het |
|
| Other mutations in Or51ag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01924:Or51ag1
|
APN |
7 |
103,156,003 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02179:Or51ag1
|
APN |
7 |
103,155,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02507:Or51ag1
|
APN |
7 |
103,155,925 (GRCm39) |
nonsense |
probably null |
|
|
IGL02562:Or51ag1
|
APN |
7 |
103,155,423 (GRCm39) |
nonsense |
probably null |
|
|
IGL02806:Or51ag1
|
APN |
7 |
103,155,210 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0743:Or51ag1
|
UTSW |
7 |
103,156,069 (GRCm39) |
nonsense |
probably null |
|
|
R0884:Or51ag1
|
UTSW |
7 |
103,156,069 (GRCm39) |
nonsense |
probably null |
|
|
R1673:Or51ag1
|
UTSW |
7 |
103,155,896 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Or51ag1
|
UTSW |
7 |
103,155,765 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1800:Or51ag1
|
UTSW |
7 |
103,155,248 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2043:Or51ag1
|
UTSW |
7 |
103,156,150 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R2254:Or51ag1
|
UTSW |
7 |
103,155,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2566:Or51ag1
|
UTSW |
7 |
103,155,367 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4433:Or51ag1
|
UTSW |
7 |
103,155,346 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5206:Or51ag1
|
UTSW |
7 |
103,155,309 (GRCm39) |
nonsense |
probably null |
|
|
R5470:Or51ag1
|
UTSW |
7 |
103,155,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6020:Or51ag1
|
UTSW |
7 |
103,156,006 (GRCm39) |
missense |
probably benign |
|
|
R6848:Or51ag1
|
UTSW |
7 |
103,155,664 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7222:Or51ag1
|
UTSW |
7 |
103,155,664 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7832:Or51ag1
|
UTSW |
7 |
103,155,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7837:Or51ag1
|
UTSW |
7 |
103,156,052 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7893:Or51ag1
|
UTSW |
7 |
103,155,817 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9293:Or51ag1
|
UTSW |
7 |
103,155,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9335:Or51ag1
|
UTSW |
7 |
103,155,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9567:Or51ag1
|
UTSW |
7 |
103,155,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9615:Or51ag1
|
UTSW |
7 |
103,155,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9653:Or51ag1
|
UTSW |
7 |
103,155,727 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation