Incidental Mutation 'R5486:Or52n3'
| ID |
430366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or52n3
|
| Ensembl Gene |
ENSMUSG00000073917 |
| Gene Name |
olfactory receptor family 52 subfamily N member 3 |
| Synonyms |
MOR34-7, Olfr665, GA_x6K02T2PBJ9-7509539-7510489 |
| MMRRC Submission |
043047-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R5486 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
104529916-104530866 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 104530168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 85
(C85S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150229
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098165]
[ENSMUST00000215761]
[ENSMUST00000216257]
[ENSMUST00000216971]
|
| AlphaFold |
Q8VG79 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098165
AA Change: C85S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000095768
Gene: ENSMUSG00000073917
AA Change: C85S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
313 |
6.4e-105 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
310 |
1e-5 |
PFAM |
|
Pfam:7tm_1
|
43 |
295 |
1.4e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215761
AA Change: C85S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216257
AA Change: C85S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216971
AA Change: C85S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| 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 |
| Or52d1 |
C |
A |
7: 103,755,705 (GRCm39) |
T73N |
probably damaging |
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 Or52n3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00227:Or52n3
|
APN |
7 |
104,530,724 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01408:Or52n3
|
APN |
7 |
104,530,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02022:Or52n3
|
APN |
7 |
104,530,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0349:Or52n3
|
UTSW |
7 |
104,530,199 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0585:Or52n3
|
UTSW |
7 |
104,530,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1518:Or52n3
|
UTSW |
7 |
104,530,515 (GRCm39) |
nonsense |
probably null |
|
|
R1659:Or52n3
|
UTSW |
7 |
104,530,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1727:Or52n3
|
UTSW |
7 |
104,530,721 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1762:Or52n3
|
UTSW |
7 |
104,530,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4052:Or52n3
|
UTSW |
7 |
104,530,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4208:Or52n3
|
UTSW |
7 |
104,530,810 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5513:Or52n3
|
UTSW |
7 |
104,530,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Or52n3
|
UTSW |
7 |
104,530,289 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6593:Or52n3
|
UTSW |
7 |
104,530,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7143:Or52n3
|
UTSW |
7 |
104,530,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7189:Or52n3
|
UTSW |
7 |
104,530,348 (GRCm39) |
nonsense |
probably null |
|
|
R7413:Or52n3
|
UTSW |
7 |
104,530,057 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8690:Or52n3
|
UTSW |
7 |
104,530,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8819:Or52n3
|
UTSW |
7 |
104,530,862 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8820:Or52n3
|
UTSW |
7 |
104,530,862 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9430:Or52n3
|
UTSW |
7 |
104,530,204 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9464:Or52n3
|
UTSW |
7 |
104,530,050 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCTGCACACATCTGGATC -3'
(R):5'- AGGGACCATGAGTAACACACTTC -3'
Sequencing Primer
(F):5'- GCACACATCTGGATCTCTCTG -3'
(R):5'- AAGTGCTGCCAATCCAATCTTG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation