Incidental Mutation 'IGL03111:Or51g2'
| ID |
419189 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or51g2
|
| Ensembl Gene |
ENSMUSG00000043354 |
| Gene Name |
olfactory receptor family 51 subfamily G member 2 |
| Synonyms |
Olfr577, GA_x6K02T2PBJ9-5685322-5684384, MOR7-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL03111
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102622259-102623197 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102622738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 154
(R154C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150712
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051505]
[ENSMUST00000185326]
[ENSMUST00000214080]
[ENSMUST00000215237]
|
| AlphaFold |
Q8VH11 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051505
AA Change: R154C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000059586
Gene: ENSMUSG00000043354
AA Change: R154C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
312 |
3.3e-140 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
310 |
1.2e-6 |
PFAM |
|
Pfam:7tm_1
|
44 |
295 |
7.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185326
|
| SMART Domains |
Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
300 |
9.7e-12 |
PFAM |
|
Pfam:7tm_1
|
41 |
291 |
1.8e-29 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
2.6e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214080
AA Change: R154C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215237
AA Change: R154C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aftph |
T |
C |
11: 20,676,040 (GRCm39) |
D523G |
probably benign |
Het |
| Alkbh1 |
A |
C |
12: 87,480,907 (GRCm39) |
H176Q |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Arid4a |
G |
A |
12: 71,086,740 (GRCm39) |
A193T |
probably damaging |
Het |
| Cdkal1 |
A |
G |
13: 29,538,684 (GRCm39) |
S492P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,701,613 (GRCm39) |
T164I |
probably damaging |
Het |
| Chst1 |
T |
C |
2: 92,443,692 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Clybl |
C |
T |
14: 122,639,395 (GRCm39) |
P320S |
probably damaging |
Het |
| Cpne9 |
T |
C |
6: 113,277,571 (GRCm39) |
I430T |
possibly damaging |
Het |
| Cyc1 |
T |
G |
15: 76,229,072 (GRCm39) |
S113A |
probably benign |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,066 (GRCm39) |
|
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,462,910 (GRCm39) |
D489G |
probably damaging |
Het |
| Epha3 |
T |
C |
16: 63,473,809 (GRCm39) |
D15G |
probably damaging |
Het |
| Ephb4 |
C |
A |
5: 137,370,767 (GRCm39) |
F933L |
probably benign |
Het |
| Fan1 |
A |
T |
7: 63,999,816 (GRCm39) |
D856E |
possibly damaging |
Het |
| Gabra6 |
T |
A |
11: 42,207,844 (GRCm39) |
D208V |
probably damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,988 (GRCm39) |
S719R |
probably benign |
Het |
| Ldhd |
A |
C |
8: 112,353,797 (GRCm39) |
C439G |
probably damaging |
Het |
| Lipo3 |
C |
T |
19: 33,559,637 (GRCm39) |
V78I |
probably damaging |
Het |
| Mterf2 |
A |
T |
10: 84,955,786 (GRCm39) |
Y279* |
probably null |
Het |
| Myo9a |
G |
T |
9: 59,734,526 (GRCm39) |
A703S |
probably benign |
Het |
| Ndst3 |
T |
A |
3: 123,465,745 (GRCm39) |
T76S |
possibly damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,330,816 (GRCm39) |
L859Q |
probably damaging |
Het |
| Nlrp4g |
T |
A |
9: 124,353,978 (GRCm38) |
|
noncoding transcript |
Het |
| Or1s2 |
T |
A |
19: 13,758,343 (GRCm39) |
Y122* |
probably null |
Het |
| Or6c215 |
G |
A |
10: 129,637,947 (GRCm39) |
T149I |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,169,788 (GRCm39) |
K113M |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,202 (GRCm39) |
Y823N |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,327,653 (GRCm39) |
I856V |
probably benign |
Het |
| Pxdn |
T |
A |
12: 30,032,755 (GRCm39) |
S180T |
probably damaging |
Het |
| Skint9 |
T |
A |
4: 112,248,921 (GRCm39) |
N169I |
probably benign |
Het |
| Slc24a1 |
T |
C |
9: 64,833,608 (GRCm39) |
T996A |
probably damaging |
Het |
| Tbc1d20 |
T |
C |
2: 152,149,998 (GRCm39) |
Y91H |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,049,369 (GRCm39) |
Y772C |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,392 (GRCm39) |
E492V |
probably benign |
Het |
| Thra |
A |
G |
11: 98,651,855 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
A |
G |
1: 36,867,225 (GRCm39) |
S403P |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,356,063 (GRCm39) |
S444P |
probably benign |
Het |
| Zfp946 |
A |
G |
17: 22,673,537 (GRCm39) |
H97R |
possibly damaging |
Het |
|
| Other mutations in Or51g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02246:Or51g2
|
APN |
7 |
102,622,951 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1529:Or51g2
|
UTSW |
7 |
102,623,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1753:Or51g2
|
UTSW |
7 |
102,622,263 (GRCm39) |
missense |
probably benign |
|
|
R3005:Or51g2
|
UTSW |
7 |
102,622,465 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4457:Or51g2
|
UTSW |
7 |
102,622,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Or51g2
|
UTSW |
7 |
102,623,013 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4808:Or51g2
|
UTSW |
7 |
102,623,118 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4891:Or51g2
|
UTSW |
7 |
102,622,759 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4917:Or51g2
|
UTSW |
7 |
102,622,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4918:Or51g2
|
UTSW |
7 |
102,622,614 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5328:Or51g2
|
UTSW |
7 |
102,623,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6375:Or51g2
|
UTSW |
7 |
102,622,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6683:Or51g2
|
UTSW |
7 |
102,622,920 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6958:Or51g2
|
UTSW |
7 |
102,623,091 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7022:Or51g2
|
UTSW |
7 |
102,623,175 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7429:Or51g2
|
UTSW |
7 |
102,622,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7430:Or51g2
|
UTSW |
7 |
102,622,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7490:Or51g2
|
UTSW |
7 |
102,623,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7808:Or51g2
|
UTSW |
7 |
102,622,317 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8169:Or51g2
|
UTSW |
7 |
102,622,545 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8544:Or51g2
|
UTSW |
7 |
102,622,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9027:Or51g2
|
UTSW |
7 |
102,622,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9265:Or51g2
|
UTSW |
7 |
102,623,112 (GRCm39) |
nonsense |
probably null |
|
|
X0027:Or51g2
|
UTSW |
7 |
102,622,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Or51g2
|
UTSW |
7 |
102,622,516 (GRCm39) |
missense |
not run |
|
|
Z1177:Or51g2
|
UTSW |
7 |
102,622,516 (GRCm39) |
missense |
not run |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation