Incidental Mutation 'R4401:Or4k35'
ID |
326618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or4k35
|
Ensembl Gene |
ENSMUSG00000074965 |
Gene Name |
olfactory receptor family 4 subfamily K member 35 |
Synonyms |
MOR248-11, Olfr1277, GA_x6K02T2Q125-72321818-72320907 |
MMRRC Submission |
041132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R4401 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
111099799-111100710 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 111100178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 178
(F178S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099619]
[ENSMUST00000214760]
|
AlphaFold |
Q8VF41 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099619
AA Change: F178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000097214 Gene: ENSMUSG00000074965 AA Change: F178S
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
303 |
5.5e-50 |
PFAM |
Pfam:7tm_1
|
41 |
287 |
7.2e-20 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000214760
AA Change: F178S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,752,390 (GRCm39) |
I454V |
possibly damaging |
Het |
Acvr2a |
A |
G |
2: 48,789,714 (GRCm39) |
T486A |
probably benign |
Het |
Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
Atad2b |
T |
A |
12: 4,990,145 (GRCm39) |
C157S |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
Cct2 |
A |
G |
10: 116,893,714 (GRCm39) |
I287T |
possibly damaging |
Het |
Cntn4 |
A |
G |
6: 106,466,625 (GRCm39) |
T176A |
possibly damaging |
Het |
Cracd |
G |
A |
5: 76,996,763 (GRCm39) |
V74I |
probably damaging |
Het |
Cyp2c54 |
T |
C |
19: 40,060,615 (GRCm39) |
N122S |
probably benign |
Het |
Cytip |
T |
C |
2: 58,023,947 (GRCm39) |
D291G |
probably benign |
Het |
Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
Fnbp4 |
A |
G |
2: 90,577,102 (GRCm39) |
T145A |
possibly damaging |
Het |
Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
Gm11937 |
C |
T |
11: 99,500,901 (GRCm39) |
V39M |
probably damaging |
Het |
Gm6712 |
C |
T |
17: 17,538,366 (GRCm39) |
|
noncoding transcript |
Het |
Hira |
A |
G |
16: 18,744,470 (GRCm39) |
I352V |
probably damaging |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Lpcat2 |
T |
C |
8: 93,599,683 (GRCm39) |
V217A |
possibly damaging |
Het |
Mroh2a |
G |
T |
1: 88,182,657 (GRCm39) |
R1195L |
possibly damaging |
Het |
Or2a25 |
G |
T |
6: 42,889,260 (GRCm39) |
E268* |
probably null |
Het |
Or51f5 |
C |
T |
7: 102,424,006 (GRCm39) |
R92* |
probably null |
Het |
Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
Rfng |
A |
T |
11: 120,673,306 (GRCm39) |
V245E |
possibly damaging |
Het |
Rpf2 |
A |
G |
10: 40,112,124 (GRCm39) |
V104A |
possibly damaging |
Het |
Rps6kc1 |
G |
T |
1: 190,532,155 (GRCm39) |
H616N |
probably benign |
Het |
Slc66a1 |
T |
C |
4: 139,033,854 (GRCm39) |
I22V |
probably benign |
Het |
Slc9b2 |
T |
C |
3: 135,042,305 (GRCm39) |
V528A |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
Trrap |
A |
G |
5: 144,780,128 (GRCm39) |
T3240A |
possibly damaging |
Het |
Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,468,405 (GRCm39) |
Y2854* |
probably null |
Het |
Zfp986 |
C |
T |
4: 145,625,513 (GRCm39) |
R58C |
probably benign |
Het |
|
Other mutations in Or4k35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01552:Or4k35
|
APN |
2 |
111,100,257 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02550:Or4k35
|
APN |
2 |
111,100,349 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02661:Or4k35
|
APN |
2 |
111,099,811 (GRCm39) |
missense |
possibly damaging |
0.56 |
IGL02940:Or4k35
|
APN |
2 |
111,100,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R0121:Or4k35
|
UTSW |
2 |
111,100,659 (GRCm39) |
missense |
probably benign |
0.01 |
R0402:Or4k35
|
UTSW |
2 |
111,100,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R0903:Or4k35
|
UTSW |
2 |
111,100,701 (GRCm39) |
missense |
probably benign |
|
R1804:Or4k35
|
UTSW |
2 |
111,100,275 (GRCm39) |
missense |
probably benign |
|
R1806:Or4k35
|
UTSW |
2 |
111,100,622 (GRCm39) |
missense |
possibly damaging |
0.65 |
R1965:Or4k35
|
UTSW |
2 |
111,099,938 (GRCm39) |
missense |
probably damaging |
1.00 |
R3718:Or4k35
|
UTSW |
2 |
111,100,571 (GRCm39) |
missense |
probably benign |
|
R4044:Or4k35
|
UTSW |
2 |
111,099,927 (GRCm39) |
missense |
probably benign |
0.01 |
R4518:Or4k35
|
UTSW |
2 |
111,100,263 (GRCm39) |
missense |
probably benign |
|
R5309:Or4k35
|
UTSW |
2 |
111,100,655 (GRCm39) |
missense |
probably benign |
0.00 |
R5312:Or4k35
|
UTSW |
2 |
111,100,655 (GRCm39) |
missense |
probably benign |
0.00 |
R5367:Or4k35
|
UTSW |
2 |
111,100,235 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5727:Or4k35
|
UTSW |
2 |
111,100,197 (GRCm39) |
nonsense |
probably null |
|
R5772:Or4k35
|
UTSW |
2 |
111,100,057 (GRCm39) |
nonsense |
probably null |
|
R5827:Or4k35
|
UTSW |
2 |
111,100,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R5882:Or4k35
|
UTSW |
2 |
111,100,484 (GRCm39) |
missense |
probably damaging |
0.99 |
R6036:Or4k35
|
UTSW |
2 |
111,099,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R6036:Or4k35
|
UTSW |
2 |
111,099,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R6728:Or4k35
|
UTSW |
2 |
111,100,018 (GRCm39) |
missense |
probably benign |
0.00 |
R7629:Or4k35
|
UTSW |
2 |
111,100,221 (GRCm39) |
missense |
probably benign |
0.00 |
R8377:Or4k35
|
UTSW |
2 |
111,099,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R8870:Or4k35
|
UTSW |
2 |
111,100,464 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9100:Or4k35
|
UTSW |
2 |
111,100,094 (GRCm39) |
missense |
probably benign |
0.35 |
R9668:Or4k35
|
UTSW |
2 |
111,100,287 (GRCm39) |
missense |
probably benign |
0.03 |
R9690:Or4k35
|
UTSW |
2 |
111,099,822 (GRCm39) |
missense |
probably damaging |
0.98 |
R9715:Or4k35
|
UTSW |
2 |
111,100,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGATGTGGGCAGTACAAG -3'
(R):5'- GGTACTGCTTGTATCAATGGC -3'
Sequencing Primer
(F):5'- TAGAGAGAGCTTTGGATGCCCC -3'
(R):5'- CAATGGCTTATGACCGTTATGTAGC -3'
|
Posted On |
2015-07-07 |