Incidental Mutation 'IGL01597:Or51ah3'
ID |
91705 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Or51ah3
|
Ensembl Gene |
ENSMUSG00000073947 |
Gene Name |
olfactory receptor family 51 subfamily AH member 3 |
Synonyms |
MOR19-2, GA_x6K02T2PBJ9-6284902-6285843, Olfr615 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
IGL01597
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
103209686-103210627 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103210349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 222
(I222V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150166
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098198]
[ENSMUST00000106886]
[ENSMUST00000214345]
[ENSMUST00000214806]
[ENSMUST00000215673]
[ENSMUST00000217293]
|
AlphaFold |
Q8VGY4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098198
AA Change: I222V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095800 Gene: ENSMUSG00000073947 AA Change: I222V
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
32 |
311 |
2.5e-105 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
36 |
253 |
8.5e-9 |
PFAM |
Pfam:7tm_1
|
42 |
293 |
8.2e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000106886
|
SMART Domains |
Protein: ENSMUSP00000102499 Gene: ENSMUSG00000047544
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
22 |
N/A |
INTRINSIC |
Pfam:7tm_4
|
33 |
311 |
1.1e-116 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
309 |
1.2e-6 |
PFAM |
Pfam:7tm_1
|
43 |
294 |
4.3e-19 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214345
AA Change: I222V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214806
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215673
AA Change: I222V
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217293
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
Syngr4 |
T |
C |
7: 45,536,390 (GRCm39) |
T211A |
probably benign |
Het |
Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
Other mutations in Or51ah3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00742:Or51ah3
|
APN |
7 |
103,210,563 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01310:Or51ah3
|
APN |
7 |
103,210,008 (GRCm39) |
missense |
probably benign |
|
IGL01725:Or51ah3
|
APN |
7 |
103,210,282 (GRCm39) |
nonsense |
probably null |
|
IGL03291:Or51ah3
|
APN |
7 |
103,210,119 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0055:Or51ah3
|
UTSW |
7 |
103,210,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0055:Or51ah3
|
UTSW |
7 |
103,210,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R0189:Or51ah3
|
UTSW |
7 |
103,210,289 (GRCm39) |
missense |
probably benign |
0.01 |
R0254:Or51ah3
|
UTSW |
7 |
103,209,829 (GRCm39) |
nonsense |
probably null |
|
R1395:Or51ah3
|
UTSW |
7 |
103,210,326 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1781:Or51ah3
|
UTSW |
7 |
103,209,773 (GRCm39) |
missense |
probably benign |
0.34 |
R2866:Or51ah3
|
UTSW |
7 |
103,210,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R2958:Or51ah3
|
UTSW |
7 |
103,210,512 (GRCm39) |
missense |
possibly damaging |
0.54 |
R3922:Or51ah3
|
UTSW |
7 |
103,209,912 (GRCm39) |
missense |
probably benign |
0.00 |
R4306:Or51ah3
|
UTSW |
7 |
103,210,380 (GRCm39) |
missense |
possibly damaging |
0.50 |
R4306:Or51ah3
|
UTSW |
7 |
103,210,379 (GRCm39) |
nonsense |
probably null |
|
R4818:Or51ah3
|
UTSW |
7 |
103,209,968 (GRCm39) |
missense |
probably benign |
0.07 |
R4907:Or51ah3
|
UTSW |
7 |
103,210,241 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4993:Or51ah3
|
UTSW |
7 |
103,210,524 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5461:Or51ah3
|
UTSW |
7 |
103,209,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Or51ah3
|
UTSW |
7 |
103,210,489 (GRCm39) |
missense |
probably benign |
0.01 |
R6621:Or51ah3
|
UTSW |
7 |
103,210,085 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7174:Or51ah3
|
UTSW |
7 |
103,210,598 (GRCm39) |
nonsense |
probably null |
|
R7665:Or51ah3
|
UTSW |
7 |
103,210,523 (GRCm39) |
missense |
probably benign |
0.00 |
R7684:Or51ah3
|
UTSW |
7 |
103,210,425 (GRCm39) |
missense |
probably benign |
0.01 |
R8812:Or51ah3
|
UTSW |
7 |
103,209,816 (GRCm39) |
missense |
probably benign |
0.01 |
R8934:Or51ah3
|
UTSW |
7 |
103,210,290 (GRCm39) |
missense |
probably benign |
0.01 |
R9199:Or51ah3
|
UTSW |
7 |
103,210,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R9243:Or51ah3
|
UTSW |
7 |
103,209,782 (GRCm39) |
missense |
probably benign |
|
R9276:Or51ah3
|
UTSW |
7 |
103,210,004 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Or51ah3
|
UTSW |
7 |
103,210,597 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1088:Or51ah3
|
UTSW |
7 |
103,210,266 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-12-09 |