Incidental Mutation 'R5486:Or52d1'
ID |
430365 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or52d1
|
Ensembl Gene |
ENSMUSG00000073931 |
Gene Name |
olfactory receptor family 52 subfamily D member 1 |
Synonyms |
Olfr646, MOR33-2, GA_x6K02T2PBJ9-6841330-6842268 |
MMRRC Submission |
043047-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
R5486 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
103754080-103758973 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103755705 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 73
(T73N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098182]
[ENSMUST00000138055]
[ENSMUST00000214099]
|
AlphaFold |
Q8VGW2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098182
AA Change: T73N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095784 Gene: ENSMUSG00000073931 AA Change: T73N
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
28 |
307 |
1.9e-109 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
32 |
225 |
6.1e-10 |
PFAM |
Pfam:7tm_1
|
38 |
290 |
3.3e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
SMART Domains |
Protein: ENSMUSP00000139240 Gene: ENSMUSG00000109824
Domain | Start | End | E-Value | Type |
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214099
AA Change: T73N
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214291
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.4%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930009A15Rik |
G |
T |
10: 115,415,810 (GRCm39) |
|
probably benign |
Het |
Acad8 |
A |
T |
9: 26,910,791 (GRCm39) |
M1K |
probably null |
Het |
Adam12 |
C |
A |
7: 133,509,401 (GRCm39) |
R786S |
possibly damaging |
Het |
Add3 |
G |
A |
19: 53,232,818 (GRCm39) |
V604I |
probably benign |
Het |
Alpk2 |
A |
T |
18: 65,427,425 (GRCm39) |
|
probably null |
Het |
Ano3 |
T |
C |
2: 110,576,215 (GRCm39) |
D102G |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,964,524 (GRCm39) |
D2693E |
possibly damaging |
Het |
Ccdc7a |
T |
C |
8: 129,711,884 (GRCm39) |
N284D |
probably damaging |
Het |
Clic6 |
A |
G |
16: 92,326,740 (GRCm39) |
|
probably null |
Het |
Cln5 |
T |
C |
14: 103,313,630 (GRCm39) |
I294T |
probably damaging |
Het |
Cmklr1 |
C |
G |
5: 113,752,990 (GRCm39) |
D4H |
possibly damaging |
Het |
Cyp2d9 |
T |
A |
15: 82,336,779 (GRCm39) |
W43R |
probably damaging |
Het |
Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
Erlec1 |
A |
T |
11: 30,885,047 (GRCm39) |
H413Q |
probably damaging |
Het |
Fam168a |
T |
A |
7: 100,483,376 (GRCm39) |
M203K |
probably damaging |
Het |
Fat2 |
A |
T |
11: 55,144,507 (GRCm39) |
S4122R |
probably benign |
Het |
Fgd4 |
A |
T |
16: 16,292,901 (GRCm39) |
L272Q |
probably damaging |
Het |
Hpcal4 |
A |
G |
4: 123,084,557 (GRCm39) |
K162R |
probably benign |
Het |
Iars1 |
T |
A |
13: 49,863,049 (GRCm39) |
|
probably null |
Het |
Lbr |
A |
G |
1: 181,646,403 (GRCm39) |
|
probably null |
Het |
Lrp2 |
T |
C |
2: 69,267,809 (GRCm39) |
I4259V |
probably benign |
Het |
Mcm3 |
C |
T |
1: 20,885,118 (GRCm39) |
G189S |
probably damaging |
Het |
Nr1d2 |
A |
G |
14: 18,206,860 (GRCm38) |
V137A |
possibly damaging |
Het |
Or52n3 |
T |
A |
7: 104,530,168 (GRCm39) |
C85S |
probably benign |
Het |
Or7g33 |
A |
G |
9: 19,448,590 (GRCm39) |
V212A |
probably benign |
Het |
Pim3 |
T |
C |
15: 88,747,425 (GRCm39) |
V97A |
possibly damaging |
Het |
Piwil2 |
T |
C |
14: 70,638,880 (GRCm39) |
N479S |
probably benign |
Het |
Pld3 |
C |
A |
7: 27,233,156 (GRCm39) |
W365L |
probably damaging |
Het |
Plk3 |
C |
A |
4: 116,987,600 (GRCm39) |
E412* |
probably null |
Het |
Psmd1 |
A |
G |
1: 86,064,772 (GRCm39) |
I935V |
possibly damaging |
Het |
Sh2b2 |
A |
G |
5: 136,260,944 (GRCm39) |
S91P |
probably benign |
Het |
Skor2 |
A |
G |
18: 76,946,395 (GRCm39) |
N39S |
unknown |
Het |
Slc22a22 |
A |
G |
15: 57,126,847 (GRCm39) |
V55A |
probably damaging |
Het |
Smg7 |
A |
G |
1: 152,721,927 (GRCm39) |
S595P |
probably damaging |
Het |
Snrnp200 |
C |
T |
2: 127,074,986 (GRCm39) |
P1520S |
possibly damaging |
Het |
Taar7a |
T |
A |
10: 23,868,356 (GRCm39) |
T342S |
probably benign |
Het |
Tecpr2 |
A |
T |
12: 110,899,449 (GRCm39) |
I606F |
probably benign |
Het |
Tex19.2 |
A |
T |
11: 121,008,304 (GRCm39) |
M48K |
probably benign |
Het |
Thoc1 |
A |
G |
18: 9,992,204 (GRCm39) |
T511A |
probably benign |
Het |
Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
Ubr5 |
C |
A |
15: 38,008,983 (GRCm39) |
A1077S |
probably benign |
Het |
Wdr95 |
A |
T |
5: 149,519,795 (GRCm39) |
R571* |
probably null |
Het |
|
Other mutations in Or52d1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01779:Or52d1
|
APN |
7 |
103,755,840 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02454:Or52d1
|
APN |
7 |
103,755,819 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02588:Or52d1
|
APN |
7 |
103,756,260 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02961:Or52d1
|
APN |
7 |
103,756,357 (GRCm39) |
nonsense |
probably null |
|
IGL03092:Or52d1
|
APN |
7 |
103,755,854 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4402001:Or52d1
|
UTSW |
7 |
103,755,657 (GRCm39) |
missense |
probably damaging |
1.00 |
R0006:Or52d1
|
UTSW |
7 |
103,755,527 (GRCm39) |
missense |
probably benign |
0.00 |
R0109:Or52d1
|
UTSW |
7 |
103,755,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R0109:Or52d1
|
UTSW |
7 |
103,755,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R0601:Or52d1
|
UTSW |
7 |
103,756,349 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0732:Or52d1
|
UTSW |
7 |
103,755,501 (GRCm39) |
missense |
probably damaging |
1.00 |
R1320:Or52d1
|
UTSW |
7 |
103,755,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Or52d1
|
UTSW |
7 |
103,755,896 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1468:Or52d1
|
UTSW |
7 |
103,755,896 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1513:Or52d1
|
UTSW |
7 |
103,755,671 (GRCm39) |
missense |
probably benign |
0.02 |
R6110:Or52d1
|
UTSW |
7 |
103,755,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R6497:Or52d1
|
UTSW |
7 |
103,756,422 (GRCm39) |
intron |
probably benign |
|
R6856:Or52d1
|
UTSW |
7 |
103,755,998 (GRCm39) |
missense |
probably benign |
0.00 |
R7766:Or52d1
|
UTSW |
7 |
103,756,201 (GRCm39) |
nonsense |
probably null |
|
R7789:Or52d1
|
UTSW |
7 |
103,756,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R7844:Or52d1
|
UTSW |
7 |
103,755,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R8888:Or52d1
|
UTSW |
7 |
103,756,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R8895:Or52d1
|
UTSW |
7 |
103,756,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R9167:Or52d1
|
UTSW |
7 |
103,756,426 (GRCm39) |
makesense |
probably null |
|
R9178:Or52d1
|
UTSW |
7 |
103,755,720 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCCCTTCGTGTGCCAAG -3'
(R):5'- ATCTCAGTGGGTTGCAGATAG -3'
Sequencing Primer
(F):5'- TTCGTGTGCCAAGACAGAC -3'
(R):5'- GCTACATATCGATCAAAGGCCATGG -3'
|
Posted On |
2016-10-05 |