Incidental Mutation 'RF032:Olfr418'
ID |
604392 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Olfr418
|
Ensembl Gene |
ENSMUSG00000049605 |
Gene Name |
olfactory receptor 418 |
Synonyms |
GA_x6K02T2P20D-20826777-20827719, MOR267-8, GA_x6K02T2R7CC-581296-580364, Olfr418-ps1, Olfr1403, MOR267-12P |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
RF032 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
173266001-173273994 bp(+) (GRCm38) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GTGACATC to G
at 173270709 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150427
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059754]
[ENSMUST00000111224]
[ENSMUST00000213420]
|
AlphaFold |
A0A140T8J6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059754
|
SMART Domains |
Protein: ENSMUSP00000052418 Gene: ENSMUSG00000049605
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
31 |
307 |
1.6e-55 |
PFAM |
Pfam:7tm_1
|
41 |
289 |
5.7e-25 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111224
|
SMART Domains |
Protein: ENSMUSP00000106855 Gene: ENSMUSG00000079180
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
PTX
|
20 |
219 |
1.93e-94 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000213420
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.4%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
TACCT |
TACCTGACCT |
17: 24,287,727 (GRCm38) |
|
probably null |
Het |
Acap3 |
CTGCTG |
CTGCTGCATCCTGGGATGCTG |
4: 155,905,102 (GRCm38) |
|
probably benign |
Het |
Arid1b |
GCG |
GCGTCG |
17: 4,995,588 (GRCm38) |
|
probably benign |
Het |
Blm |
CTCC |
CTCCTCCTCCTCGTCC |
7: 80,512,930 (GRCm38) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,620,063 (GRCm38) |
|
probably null |
Het |
Calhm1 |
C |
CTGTGGCCGTGG |
19: 47,141,283 (GRCm38) |
|
probably null |
Het |
Cluh |
CCCGAGCC |
CCCGAGCCCGAGCC |
11: 74,669,515 (GRCm38) |
|
probably benign |
Het |
Cyb5r4 |
ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA |
9: 87,040,413 (GRCm38) |
|
probably benign |
Het |
Dmkn |
GT |
GTTGTGAAAGTGGTGGAAGTGGTGGAATT |
7: 30,767,182 (GRCm38) |
|
probably benign |
Het |
Efhd2 |
CGCC |
CGCCGCAGCC |
4: 141,874,772 (GRCm38) |
|
probably benign |
Het |
Enah |
TGGCGGTGG |
TG |
1: 181,921,929 (GRCm38) |
|
probably null |
Het |
Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,511,778 (GRCm38) |
|
probably benign |
Het |
H2-T10 |
TTTCCCACTGTA |
T |
17: 36,120,294 (GRCm38) |
|
probably null |
Het |
Ifi207 |
GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC |
GCCTGAGCTGTGGAAGTCTC |
1: 173,735,157 (GRCm38) |
|
probably benign |
Het |
Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 68,226,179 (GRCm38) |
|
probably benign |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,042,258 (GRCm38) |
|
probably benign |
Het |
Lmx1b |
TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA |
TACATCTTGATGCCGTCCA |
2: 33,640,489 (GRCm38) |
|
probably null |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,275,981 (GRCm38) |
|
probably benign |
Het |
Med12l |
AGC |
AGCGGC |
3: 59,275,985 (GRCm38) |
|
probably benign |
Het |
Med12l |
GCA |
GCACCA |
3: 59,275,989 (GRCm38) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGAAG |
5: 111,419,711 (GRCm38) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,829,936 (GRCm38) |
|
probably null |
Het |
Nusap1 |
TTAGCAGTGAGGAGCAAGCTGAGA |
TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA |
2: 119,627,587 (GRCm38) |
|
probably benign |
Het |
Padi3 |
TCTCAC |
TC |
4: 140,792,972 (GRCm38) |
|
probably benign |
Het |
Pik3c2g |
G |
GGAGA |
6: 139,635,658 (GRCm38) |
|
probably null |
Het |
Pou3f1 |
GGCGGCCG |
GGCGGCCGCGGCCG |
4: 124,657,805 (GRCm38) |
|
probably benign |
Het |
Rassf6 |
ATTC |
ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC |
5: 90,608,939 (GRCm38) |
|
probably benign |
Het |
Reep1 |
CC |
CCCGAC |
6: 71,707,968 (GRCm38) |
|
probably null |
Het |
Slc12a1 |
ACAAACC |
ACAAACCTTTGGCCACCAAACC |
2: 125,154,210 (GRCm38) |
|
probably benign |
Het |
Smpx |
CCCCCCA |
C |
X: 157,720,923 (GRCm38) |
|
probably benign |
Het |
Spaca1 |
TCGC |
TCGCTCACGC |
4: 34,049,854 (GRCm38) |
|
probably benign |
Het |
Supt20 |
GCAGCA |
GCAGCACCAGCA |
3: 54,727,666 (GRCm38) |
|
probably benign |
Het |
Tgoln1 |
GCTTGCCAGAAT |
GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT |
6: 72,616,063 (GRCm38) |
|
probably benign |
Het |
Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,616,074 (GRCm38) |
|
probably benign |
Het |
Triobp |
CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG |
15: 78,967,036 (GRCm38) |
|
probably benign |
Het |
Vat1l |
C |
T |
8: 114,289,329 (GRCm38) |
L320F |
probably damaging |
Het |
Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
|
Other mutations in Olfr418 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01413:Olfr418
|
APN |
1 |
173,270,708 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01418:Olfr418
|
APN |
1 |
173,270,708 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01930:Olfr418
|
APN |
1 |
173,270,610 (GRCm38) |
missense |
probably benign |
|
IGL01963:Olfr418
|
APN |
1 |
173,270,352 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02104:Olfr418
|
APN |
1 |
173,271,036 (GRCm38) |
missense |
probably damaging |
0.96 |
IGL02192:Olfr418
|
APN |
1 |
173,270,850 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02256:Olfr418
|
APN |
1 |
173,270,627 (GRCm38) |
missense |
probably benign |
0.04 |
IGL02340:Olfr418
|
APN |
1 |
173,270,405 (GRCm38) |
missense |
probably benign |
0.10 |
IGL02454:Olfr418
|
APN |
1 |
173,270,940 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02638:Olfr418
|
APN |
1 |
173,270,331 (GRCm38) |
missense |
probably benign |
0.07 |
FR4737:Olfr418
|
UTSW |
1 |
173,270,630 (GRCm38) |
frame shift |
probably null |
|
FR4976:Olfr418
|
UTSW |
1 |
173,270,630 (GRCm38) |
frame shift |
probably null |
|
R0552:Olfr418
|
UTSW |
1 |
173,270,805 (GRCm38) |
missense |
probably benign |
0.05 |
R0621:Olfr418
|
UTSW |
1 |
173,270,675 (GRCm38) |
missense |
possibly damaging |
0.48 |
R0735:Olfr418
|
UTSW |
1 |
173,271,002 (GRCm38) |
missense |
probably benign |
0.05 |
R1506:Olfr418
|
UTSW |
1 |
173,270,769 (GRCm38) |
missense |
probably benign |
0.04 |
R1670:Olfr418
|
UTSW |
1 |
173,270,900 (GRCm38) |
missense |
probably damaging |
1.00 |
R2111:Olfr418
|
UTSW |
1 |
173,270,312 (GRCm38) |
missense |
probably benign |
|
R2204:Olfr418
|
UTSW |
1 |
173,270,136 (GRCm38) |
splice site |
probably null |
|
R4475:Olfr418
|
UTSW |
1 |
173,270,913 (GRCm38) |
missense |
probably damaging |
0.99 |
R4909:Olfr418
|
UTSW |
1 |
173,270,979 (GRCm38) |
missense |
probably damaging |
0.97 |
R5457:Olfr418
|
UTSW |
1 |
173,270,574 (GRCm38) |
missense |
probably benign |
0.00 |
R6124:Olfr418
|
UTSW |
1 |
173,270,279 (GRCm38) |
missense |
probably damaging |
1.00 |
R6456:Olfr418
|
UTSW |
1 |
173,270,538 (GRCm38) |
missense |
probably damaging |
1.00 |
R7220:Olfr418
|
UTSW |
1 |
173,270,244 (GRCm38) |
missense |
possibly damaging |
0.56 |
R7240:Olfr418
|
UTSW |
1 |
173,270,994 (GRCm38) |
missense |
probably benign |
0.27 |
R7672:Olfr418
|
UTSW |
1 |
173,270,873 (GRCm38) |
missense |
probably benign |
0.18 |
R8073:Olfr418
|
UTSW |
1 |
173,270,985 (GRCm38) |
missense |
probably benign |
0.42 |
R8116:Olfr418
|
UTSW |
1 |
173,270,480 (GRCm38) |
missense |
possibly damaging |
0.88 |
R8982:Olfr418
|
UTSW |
1 |
173,270,739 (GRCm38) |
missense |
probably damaging |
1.00 |
R9038:Olfr418
|
UTSW |
1 |
173,270,580 (GRCm38) |
missense |
possibly damaging |
0.63 |
R9668:Olfr418
|
UTSW |
1 |
173,270,616 (GRCm38) |
missense |
possibly damaging |
0.94 |
RF036:Olfr418
|
UTSW |
1 |
173,270,709 (GRCm38) |
frame shift |
probably null |
|
RF040:Olfr418
|
UTSW |
1 |
173,270,709 (GRCm38) |
frame shift |
probably null |
|
X0019:Olfr418
|
UTSW |
1 |
173,270,557 (GRCm38) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CGATGGGATATGATCGCTATGTAG -3'
(R):5'- TGGATGATGACCACCGTGAG -3'
Sequencing Primer
(F):5'- GATCGCTATGTAGCTATCTGCAAC -3'
(R):5'- GCACAGGTGGCAAAGGC -3'
|
Posted On |
2019-12-04 |