Incidental Mutation 'R6935:Or52ad1'
| ID |
540247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52ad1
|
| Ensembl Gene |
ENSMUSG00000045540 |
| Gene Name |
olfactory receptor family 52 subfamily AD member 1 |
| Synonyms |
Olfr600, MOR39-1, GA_x6K02T2PBJ9-6056235-6055291 |
| MMRRC Submission |
045008-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R6935 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
102995189-102996133 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102996002 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 44
(N44K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148967
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056222]
[ENSMUST00000215042]
|
| AlphaFold |
E9PUN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056222
AA Change: N44K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000053887
Gene: ENSMUSG00000045540
AA Change: N44K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
1.1e-97 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
226 |
1.2e-12 |
PFAM |
|
Pfam:7tm_1
|
43 |
305 |
7.2e-14 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215042
AA Change: N44K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
98% (41/42) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930596D02Rik |
T |
A |
14: 35,533,864 (GRCm39) |
H14L |
probably benign |
Het |
| Adar |
A |
G |
3: 89,654,525 (GRCm39) |
N368D |
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,334,204 (GRCm39) |
V71A |
probably benign |
Het |
| Ank1 |
C |
T |
8: 23,598,247 (GRCm39) |
T755I |
probably damaging |
Het |
| Aoc1 |
A |
T |
6: 48,885,161 (GRCm39) |
Y632F |
probably damaging |
Het |
| Bbc3 |
A |
G |
7: 16,046,124 (GRCm39) |
D20G |
possibly damaging |
Het |
| Bche |
T |
G |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| Cfap97d2 |
CA |
CAA |
8: 13,784,865 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
G |
9: 79,607,782 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Crip2 |
T |
C |
12: 113,104,213 (GRCm39) |
C8R |
probably damaging |
Het |
| Dhx58 |
T |
A |
11: 100,589,232 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
G |
A |
11: 69,312,567 (GRCm39) |
R4333C |
probably damaging |
Het |
| Dnajb12 |
T |
C |
10: 59,732,325 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
T |
C |
2: 144,318,014 (GRCm39) |
E718G |
possibly damaging |
Het |
| Erfl |
C |
A |
7: 24,627,986 (GRCm39) |
G181V |
possibly damaging |
Het |
| Fbxo28 |
C |
T |
1: 182,169,025 (GRCm39) |
G38R |
unknown |
Het |
| Foxb2 |
A |
G |
19: 16,849,983 (GRCm39) |
F341S |
probably benign |
Het |
| Gabrb3 |
T |
A |
7: 57,241,561 (GRCm39) |
I29N |
probably damaging |
Het |
| Gm7298 |
G |
A |
6: 121,744,653 (GRCm39) |
R557H |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,634,659 (GRCm39) |
Q116L |
possibly damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,149 (GRCm39) |
Y480C |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,169,824 (GRCm39) |
Y113C |
probably damaging |
Het |
| Mcm3ap |
C |
T |
10: 76,340,087 (GRCm39) |
P1453S |
possibly damaging |
Het |
| Mdn1 |
T |
G |
4: 32,774,041 (GRCm39) |
F5551V |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,619,820 (GRCm39) |
M1457K |
probably benign |
Het |
| Nbeal2 |
T |
A |
9: 110,468,459 (GRCm39) |
E372V |
probably damaging |
Het |
| Ncam2 |
T |
A |
16: 81,323,879 (GRCm39) |
S508T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,353,637 (GRCm39) |
D971E |
probably damaging |
Het |
| Nlrp10 |
A |
T |
7: 108,526,107 (GRCm39) |
M77K |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,321,825 (GRCm39) |
N174S |
probably damaging |
Het |
| Or8c18 |
G |
T |
9: 38,203,413 (GRCm39) |
M57I |
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,215 (GRCm39) |
D570E |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,001,631 (GRCm39) |
D427G |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,441,575 (GRCm39) |
Y364C |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,319,388 (GRCm39) |
S142G |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,694,322 (GRCm39) |
V174A |
probably damaging |
Het |
| Rhbdl3 |
C |
T |
11: 80,228,322 (GRCm39) |
A264V |
probably damaging |
Het |
| Sh3bp5 |
T |
A |
14: 31,101,473 (GRCm39) |
M170L |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,799,793 (GRCm39) |
F125L |
possibly damaging |
Het |
| Slc6a4 |
T |
C |
11: 76,917,994 (GRCm39) |
Y579H |
probably benign |
Het |
| Tmem106b |
A |
T |
6: 13,081,554 (GRCm39) |
T154S |
possibly damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,382,189 (GRCm39) |
D455G |
possibly damaging |
Het |
|
| Other mutations in Or52ad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01525:Or52ad1
|
APN |
7 |
102,995,386 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02239:Or52ad1
|
APN |
7 |
102,995,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02285:Or52ad1
|
APN |
7 |
102,995,245 (GRCm39) |
nonsense |
probably null |
|
|
IGL02547:Or52ad1
|
APN |
7 |
102,995,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03149:Or52ad1
|
APN |
7 |
102,996,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0193:Or52ad1
|
UTSW |
7 |
102,995,411 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0304:Or52ad1
|
UTSW |
7 |
102,995,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0454:Or52ad1
|
UTSW |
7 |
102,996,085 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0622:Or52ad1
|
UTSW |
7 |
102,996,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1988:Or52ad1
|
UTSW |
7 |
102,995,316 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1989:Or52ad1
|
UTSW |
7 |
102,995,316 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2937:Or52ad1
|
UTSW |
7 |
102,995,272 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4426:Or52ad1
|
UTSW |
7 |
102,995,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5362:Or52ad1
|
UTSW |
7 |
102,995,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5723:Or52ad1
|
UTSW |
7 |
102,995,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6793:Or52ad1
|
UTSW |
7 |
102,995,473 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6863:Or52ad1
|
UTSW |
7 |
102,996,123 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6983:Or52ad1
|
UTSW |
7 |
102,996,022 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7262:Or52ad1
|
UTSW |
7 |
102,995,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Or52ad1
|
UTSW |
7 |
102,995,538 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7774:Or52ad1
|
UTSW |
7 |
102,995,737 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9246:Or52ad1
|
UTSW |
7 |
102,995,908 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9542:Or52ad1
|
UTSW |
7 |
102,995,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0018:Or52ad1
|
UTSW |
7 |
102,996,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAAAGCCATGGCCAAGAG -3'
(R):5'- TGTCTCCCTAGGAACCAGAC -3'
Sequencing Primer
(F):5'- ATGGCCAAGAGGATCCCTGATTC -3'
(R):5'- AGACCTTGAAGAGCTCCTGTGAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation