Incidental Mutation 'R6140:Or8g33'
| ID |
488540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8g33
|
| Ensembl Gene |
ENSMUSG00000058856 |
| Gene Name |
olfactory receptor family 8 subfamily G member 33 |
| Synonyms |
GA_x6K02T2PVTD-33124064-33123120, MOR171-21, Olfr952 |
| MMRRC Submission |
044287-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6140 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
39337389-39338444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39337543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 275
(S275P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073895]
|
| AlphaFold |
Q8VFD7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073895
AA Change: S275P
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000073558
Gene: ENSMUSG00000058856
AA Change: S275P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
8.5e-42 |
PFAM |
|
Pfam:7tm_1
|
41 |
294 |
3.2e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.9%
- 20x: 91.8%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
C |
12: 17,055,923 (GRCm39) |
|
probably benign |
Het |
| Adgra2 |
A |
T |
8: 27,605,433 (GRCm39) |
R593W |
probably damaging |
Het |
| Agfg2 |
T |
C |
5: 137,665,347 (GRCm39) |
Q136R |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,241,036 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,742,871 (GRCm39) |
D1643G |
probably damaging |
Het |
| Ccdc171 |
C |
T |
4: 83,614,554 (GRCm39) |
Q1060* |
probably null |
Het |
| Cela1 |
C |
T |
15: 100,579,037 (GRCm39) |
R207H |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,660,133 (GRCm39) |
V664A |
probably damaging |
Het |
| Clic6 |
A |
G |
16: 92,336,380 (GRCm39) |
R563G |
probably damaging |
Het |
| Cspg4 |
A |
T |
9: 56,804,508 (GRCm39) |
H1773L |
probably benign |
Het |
| Ddrgk1 |
A |
G |
2: 130,500,534 (GRCm39) |
V204A |
probably benign |
Het |
| Dhrs7c |
A |
T |
11: 67,705,900 (GRCm39) |
T218S |
probably damaging |
Het |
| Dlgap4 |
A |
T |
2: 156,604,649 (GRCm39) |
|
probably null |
Het |
| Hgd |
A |
T |
16: 37,410,075 (GRCm39) |
Y37F |
probably benign |
Het |
| Hmcn1 |
A |
C |
1: 150,608,597 (GRCm39) |
N1528K |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,051,151 (GRCm39) |
F843S |
probably damaging |
Het |
| Ifih1 |
A |
G |
2: 62,431,804 (GRCm39) |
F800S |
possibly damaging |
Het |
| Igsf21 |
T |
A |
4: 139,834,684 (GRCm39) |
T63S |
probably benign |
Het |
| Il18rap |
T |
G |
1: 40,564,212 (GRCm39) |
M110R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 188,942,104 (GRCm39) |
H384Q |
probably damaging |
Het |
| Lima1 |
C |
T |
15: 99,678,939 (GRCm39) |
V341M |
probably damaging |
Het |
| Lins1 |
T |
C |
7: 66,361,672 (GRCm39) |
L441P |
probably damaging |
Het |
| Lss |
T |
C |
10: 76,386,522 (GRCm39) |
Y642H |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,237,615 (GRCm39) |
T1098A |
probably benign |
Het |
| Nf1 |
T |
A |
11: 79,364,146 (GRCm39) |
|
probably null |
Het |
| Nrdc |
G |
T |
4: 108,906,308 (GRCm39) |
A730S |
probably damaging |
Het |
| Nup214 |
C |
T |
2: 31,941,808 (GRCm39) |
T72I |
possibly damaging |
Het |
| Or6c213 |
T |
G |
10: 129,574,523 (GRCm39) |
K88Q |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Oxt |
A |
G |
2: 130,418,191 (GRCm39) |
Y21C |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,263 (GRCm39) |
|
probably benign |
Het |
| Ralgapb |
T |
C |
2: 158,298,492 (GRCm39) |
V907A |
probably damaging |
Het |
| Rnls |
A |
T |
19: 33,115,600 (GRCm39) |
D157E |
probably damaging |
Het |
| Slc7a14 |
C |
A |
3: 31,291,697 (GRCm39) |
V194L |
probably benign |
Het |
| Slc7a7 |
G |
A |
14: 54,616,515 (GRCm39) |
T189I |
probably damaging |
Het |
| Snupn |
C |
A |
9: 56,890,108 (GRCm39) |
Q310K |
possibly damaging |
Het |
| Ssh1 |
A |
G |
5: 114,080,692 (GRCm39) |
Y891H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,702 (GRCm39) |
D258G |
probably damaging |
Het |
| Tpk1 |
A |
T |
6: 43,400,635 (GRCm39) |
M129K |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,803,673 (GRCm39) |
I1088V |
probably benign |
Het |
| Vmn1r3 |
A |
G |
4: 3,185,031 (GRCm39) |
I92T |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,657 (GRCm39) |
S309F |
probably damaging |
Het |
| Wsb1 |
A |
T |
11: 79,132,444 (GRCm39) |
H325Q |
probably damaging |
Het |
| Zfp263 |
A |
G |
16: 3,566,081 (GRCm39) |
S281G |
probably benign |
Het |
| Zfp507 |
A |
G |
7: 35,493,613 (GRCm39) |
S477P |
probably damaging |
Het |
|
| Other mutations in Or8g33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Or8g33
|
APN |
9 |
39,337,953 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01368:Or8g33
|
APN |
9 |
39,337,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Or8g33
|
APN |
9 |
39,338,025 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01939:Or8g33
|
APN |
9 |
39,337,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Or8g33
|
UTSW |
9 |
39,338,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0069:Or8g33
|
UTSW |
9 |
39,338,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1460:Or8g33
|
UTSW |
9 |
39,337,503 (GRCm39) |
missense |
probably benign |
0.43 |
|
R1478:Or8g33
|
UTSW |
9 |
39,337,888 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1737:Or8g33
|
UTSW |
9 |
39,338,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Or8g33
|
UTSW |
9 |
39,337,966 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2169:Or8g33
|
UTSW |
9 |
39,337,654 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2225:Or8g33
|
UTSW |
9 |
39,337,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3731:Or8g33
|
UTSW |
9 |
39,338,365 (GRCm39) |
start codon destroyed |
probably benign |
0.23 |
|
R3777:Or8g33
|
UTSW |
9 |
39,337,901 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3802:Or8g33
|
UTSW |
9 |
39,337,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4600:Or8g33
|
UTSW |
9 |
39,337,731 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4887:Or8g33
|
UTSW |
9 |
39,337,531 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5215:Or8g33
|
UTSW |
9 |
39,337,919 (GRCm39) |
nonsense |
probably null |
|
|
R5813:Or8g33
|
UTSW |
9 |
39,338,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6180:Or8g33
|
UTSW |
9 |
39,338,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6383:Or8g33
|
UTSW |
9 |
39,337,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Or8g33
|
UTSW |
9 |
39,338,187 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6808:Or8g33
|
UTSW |
9 |
39,337,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7099:Or8g33
|
UTSW |
9 |
39,337,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7826:Or8g33
|
UTSW |
9 |
39,337,423 (GRCm39) |
makesense |
probably null |
|
|
R8309:Or8g33
|
UTSW |
9 |
39,337,966 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8870:Or8g33
|
UTSW |
9 |
39,337,548 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8879:Or8g33
|
UTSW |
9 |
39,337,515 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9084:Or8g33
|
UTSW |
9 |
39,337,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9209:Or8g33
|
UTSW |
9 |
39,337,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9435:Or8g33
|
UTSW |
9 |
39,337,506 (GRCm39) |
missense |
probably benign |
|
|
R9583:Or8g33
|
UTSW |
9 |
39,337,851 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTGAGAGTCCTCTTATATTTTG -3'
(R):5'- GTACCAGCCATGACCATCATTG -3'
Sequencing Primer
(F):5'- CCCCCTGTACATTGAAGTA -3'
(R):5'- GGCTCTTACATCTTCATCATTATCAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation