Incidental Mutation 'R0055:Or51ah3'
| ID |
16035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51ah3
|
| Ensembl Gene |
ENSMUSG00000073947 |
| Gene Name |
olfactory receptor family 51 subfamily AH member 3 |
| Synonyms |
MOR19-2, GA_x6K02T2PBJ9-6284902-6285843, Olfr615 |
| MMRRC Submission |
038349-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R0055 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
103209686-103210627 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103210244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 187
(K187E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150166
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098198]
[ENSMUST00000106886]
[ENSMUST00000214345]
[ENSMUST00000214806]
[ENSMUST00000215673]
[ENSMUST00000217293]
|
| AlphaFold |
Q8VGY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098198
AA Change: K187E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095800
Gene: ENSMUSG00000073947
AA Change: K187E
| 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 |
probably damaging
Transcript: ENSMUST00000214345
AA Change: K187E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214806
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215673
AA Change: K187E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217293
|
| Meta Mutation Damage Score |
0.3559 |
| Coding Region Coverage |
- 1x: 89.7%
- 3x: 87.2%
- 10x: 80.9%
- 20x: 71.2%
|
| Validation Efficiency |
85% (52/61) |
| 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 |
|---|
| A2ml1 |
T |
C |
6: 128,547,057 (GRCm39) |
|
probably benign |
Het |
| Atp6v1h |
A |
T |
1: 5,154,677 (GRCm39) |
T2S |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,404 (GRCm39) |
L238Q |
probably damaging |
Het |
| Ccdc61 |
T |
C |
7: 18,626,461 (GRCm39) |
D128G |
probably damaging |
Het |
| Cfap96 |
A |
T |
8: 46,421,198 (GRCm39) |
S108R |
probably damaging |
Het |
| Dennd5a |
A |
G |
7: 109,498,998 (GRCm39) |
I955T |
possibly damaging |
Het |
| Ephx4 |
T |
C |
5: 107,560,944 (GRCm39) |
L32S |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,138,555 (GRCm39) |
D493E |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,300,610 (GRCm39) |
|
probably benign |
Het |
| Fzd1 |
A |
T |
5: 4,806,037 (GRCm39) |
M515K |
possibly damaging |
Het |
| Gli2 |
A |
G |
1: 118,818,138 (GRCm39) |
|
probably benign |
Het |
| Gm12887 |
T |
A |
4: 121,473,666 (GRCm39) |
K61N |
probably damaging |
Het |
| Grin2a |
A |
T |
16: 9,487,671 (GRCm39) |
V409D |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,900,201 (GRCm39) |
I227V |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,870,614 (GRCm39) |
D2879A |
possibly damaging |
Het |
| Itpr2 |
T |
C |
6: 146,224,631 (GRCm39) |
N1453S |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,798 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,152,262 (GRCm39) |
E1097G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 4,996,218 (GRCm39) |
N882D |
probably damaging |
Het |
| Mybph |
G |
T |
1: 134,121,590 (GRCm39) |
V88L |
probably damaging |
Het |
| Nefm |
T |
A |
14: 68,358,648 (GRCm39) |
|
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,362,377 (GRCm39) |
E1497G |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,615,702 (GRCm39) |
S217G |
possibly damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,703 (GRCm39) |
T79S |
possibly damaging |
Het |
| Phf8-ps |
A |
T |
17: 33,285,696 (GRCm39) |
W369R |
probably damaging |
Het |
| Plcd3 |
C |
G |
11: 102,968,411 (GRCm39) |
W382S |
probably damaging |
Het |
| Plxna1 |
T |
A |
6: 89,306,721 (GRCm39) |
I1370F |
possibly damaging |
Het |
| Qng1 |
T |
C |
13: 58,531,980 (GRCm39) |
D192G |
probably damaging |
Het |
| Rarb |
G |
A |
14: 16,509,066 (GRCm38) |
R106C |
probably damaging |
Het |
| Rps6ka5 |
G |
A |
12: 100,644,839 (GRCm39) |
T37I |
probably damaging |
Het |
| Scube1 |
A |
G |
15: 83,518,937 (GRCm39) |
V301A |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,930,495 (GRCm39) |
F3L |
probably damaging |
Het |
| Slfn10-ps |
A |
G |
11: 82,921,126 (GRCm39) |
|
noncoding transcript |
Het |
| Slit2 |
C |
A |
5: 48,439,068 (GRCm39) |
C1077* |
probably null |
Het |
| Ucp1 |
G |
T |
8: 84,017,233 (GRCm39) |
E8* |
probably null |
Het |
| Zdhhc11 |
C |
T |
13: 74,130,805 (GRCm39) |
Q295* |
probably null |
Het |
| Zfp457 |
T |
A |
13: 67,442,098 (GRCm39) |
H63L |
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 |
|
|
IGL01597:Or51ah3
|
APN |
7 |
103,210,349 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
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 |
2013-01-08 |
Incidental Mutation