Incidental Mutation 'R0478:Or1x6'
ID |
43208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or1x6
|
Ensembl Gene |
ENSMUSG00000057890 |
Gene Name |
olfactory receptor family 1 subfamily X member 6 |
Synonyms |
MOR126-2, Olfr1375, Olfr1375-ps1, GA_x6K02T2QP88-4389999-4389056 |
MMRRC Submission |
038678-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.062)
|
Stock # |
R0478 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
50938936-50939877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50939539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 202
(S202P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144756
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073543]
|
AlphaFold |
A0A0N4SUP0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073543
AA Change: S202P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000073233 Gene: ENSMUSG00000057890 AA Change: S202P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
6.4e-60 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
306 |
3.9e-6 |
PFAM |
Pfam:7tm_1
|
43 |
291 |
9.5e-26 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000073543
AA Change: S202P
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000144756 Gene: ENSMUSG00000057890 AA Change: S202P
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
6.4e-60 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
37 |
306 |
3.9e-6 |
PFAM |
Pfam:7tm_1
|
43 |
291 |
9.5e-26 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
Tmc3 |
A |
T |
7: 83,271,360 (GRCm39) |
R837S |
possibly damaging |
Het |
Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
Het |
|
Other mutations in Or1x6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00092:Or1x6
|
APN |
11 |
50,939,227 (GRCm39) |
missense |
probably benign |
0.00 |
R0268:Or1x6
|
UTSW |
11 |
50,939,768 (GRCm39) |
missense |
probably damaging |
1.00 |
R0462:Or1x6
|
UTSW |
11 |
50,939,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R0839:Or1x6
|
UTSW |
11 |
50,939,254 (GRCm39) |
missense |
probably benign |
0.06 |
R2517:Or1x6
|
UTSW |
11 |
50,939,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R4688:Or1x6
|
UTSW |
11 |
50,939,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R4781:Or1x6
|
UTSW |
11 |
50,939,307 (GRCm39) |
missense |
probably damaging |
1.00 |
R5396:Or1x6
|
UTSW |
11 |
50,939,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R6163:Or1x6
|
UTSW |
11 |
50,939,595 (GRCm39) |
nonsense |
probably null |
|
R6739:Or1x6
|
UTSW |
11 |
50,939,564 (GRCm39) |
missense |
probably damaging |
0.97 |
R7344:Or1x6
|
UTSW |
11 |
50,939,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R7994:Or1x6
|
UTSW |
11 |
50,938,967 (GRCm39) |
missense |
probably benign |
0.31 |
R8054:Or1x6
|
UTSW |
11 |
50,939,090 (GRCm39) |
missense |
probably benign |
0.22 |
R8129:Or1x6
|
UTSW |
11 |
50,939,210 (GRCm39) |
missense |
probably benign |
0.00 |
R8940:Or1x6
|
UTSW |
11 |
50,939,455 (GRCm39) |
missense |
probably benign |
0.01 |
R9005:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9008:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9016:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9018:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9028:Or1x6
|
UTSW |
11 |
50,939,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R9051:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9052:Or1x6
|
UTSW |
11 |
50,938,938 (GRCm39) |
start codon destroyed |
probably null |
0.18 |
R9203:Or1x6
|
UTSW |
11 |
50,939,161 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9364:Or1x6
|
UTSW |
11 |
50,939,223 (GRCm39) |
nonsense |
probably null |
|
R9376:Or1x6
|
UTSW |
11 |
50,939,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R9554:Or1x6
|
UTSW |
11 |
50,939,223 (GRCm39) |
nonsense |
probably null |
|
R9641:Or1x6
|
UTSW |
11 |
50,939,207 (GRCm39) |
missense |
probably benign |
0.34 |
Z1176:Or1x6
|
UTSW |
11 |
50,939,662 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Or1x6
|
UTSW |
11 |
50,939,353 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAACGAGGACCATCTCTTATGCAC -3'
(R):5'- TCGTCCCATAGAACAGGATGACCAC -3'
Sequencing Primer
(F):5'- CATGGCCCTGGACAGATTC -3'
(R):5'- GATGACCACAGACAAATGTGAAC -3'
|
Posted On |
2013-05-23 |