Incidental Mutation 'IGL03119:Olfr1480'
ID |
409895 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Olfr1480
|
Ensembl Gene |
ENSMUSG00000095484 |
Gene Name |
olfactory receptor 1480 |
Synonyms |
MOR202-44, GA_x6K02T2RE5P-3862389-3863336 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
IGL03119
|
Quality Score |
|
Status
|
|
Chromosome |
19 |
Chromosomal Location |
13527913-13531275 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 13530435 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 298
(I298T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146931
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072219]
[ENSMUST00000207093]
[ENSMUST00000207904]
[ENSMUST00000207987]
|
AlphaFold |
A0A140LIR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072219
AA Change: I254T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000072076 Gene: ENSMUSG00000095484 AA Change: I254T
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
30 |
306 |
8.2e-54 |
PFAM |
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
1.6e-6 |
PFAM |
Pfam:7tm_1
|
40 |
289 |
4.5e-19 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207093
AA Change: I254T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207312
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207904
AA Change: I254T
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207987
AA Change: I298T
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216709
|
Coding Region Coverage |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
G |
5: 8,714,887 (GRCm38) |
T626A |
probably benign |
Het |
Adcy1 |
C |
T |
11: 7,109,051 (GRCm38) |
T319I |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,382,373 (GRCm38) |
S5861P |
probably damaging |
Het |
Adgrv1 |
A |
C |
13: 81,433,700 (GRCm38) |
C4742G |
probably benign |
Het |
Arid5b |
A |
T |
10: 68,243,227 (GRCm38) |
D93E |
probably damaging |
Het |
Atp6v1h |
A |
G |
1: 5,095,669 (GRCm38) |
T121A |
probably benign |
Het |
Atxn7 |
C |
T |
14: 14,100,734 (GRCm38) |
L807F |
probably damaging |
Het |
Cep104 |
A |
C |
4: 153,981,724 (GRCm38) |
K126N |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,339,976 (GRCm38) |
E708G |
probably damaging |
Het |
Dst |
A |
G |
1: 34,161,062 (GRCm38) |
Y107C |
probably damaging |
Het |
E2f3 |
A |
G |
13: 29,985,365 (GRCm38) |
S102P |
probably benign |
Het |
Eif3e |
A |
C |
15: 43,265,604 (GRCm38) |
S207A |
probably benign |
Het |
Etl4 |
A |
G |
2: 20,713,387 (GRCm38) |
Y313C |
probably damaging |
Het |
Fyttd1 |
T |
C |
16: 32,900,695 (GRCm38) |
V121A |
probably benign |
Het |
Gstk1 |
T |
C |
6: 42,249,899 (GRCm38) |
S200P |
probably damaging |
Het |
Ifrd1 |
A |
T |
12: 40,212,334 (GRCm38) |
F244L |
probably null |
Het |
Ints7 |
T |
C |
1: 191,610,365 (GRCm38) |
V491A |
probably damaging |
Het |
Kcnd2 |
G |
T |
6: 21,216,509 (GRCm38) |
E71* |
probably null |
Het |
Ltbp3 |
A |
T |
19: 5,757,443 (GRCm38) |
Q1123L |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,174,015 (GRCm38) |
T961A |
probably benign |
Het |
Naa25 |
T |
A |
5: 121,434,978 (GRCm38) |
V720E |
probably null |
Het |
Olfr599 |
A |
G |
7: 103,338,722 (GRCm38) |
I223V |
probably damaging |
Het |
Pcdhb15 |
C |
A |
18: 37,475,014 (GRCm38) |
T433N |
probably damaging |
Het |
Peli1 |
T |
C |
11: 21,140,560 (GRCm38) |
|
probably benign |
Het |
Ptbp1 |
T |
C |
10: 79,859,624 (GRCm38) |
V209A |
probably damaging |
Het |
Ranbp2 |
A |
G |
10: 58,452,003 (GRCm38) |
Y31C |
probably damaging |
Het |
Smg1 |
G |
A |
7: 118,195,113 (GRCm38) |
|
probably benign |
Het |
Stat2 |
A |
G |
10: 128,283,517 (GRCm38) |
M457V |
probably benign |
Het |
Trpm6 |
G |
T |
19: 18,838,017 (GRCm38) |
E1156* |
probably null |
Het |
Usp53 |
T |
A |
3: 122,961,415 (GRCm38) |
R130S |
possibly damaging |
Het |
Vwa5b1 |
A |
G |
4: 138,606,541 (GRCm38) |
S193P |
probably benign |
Het |
Xrn2 |
A |
G |
2: 147,042,872 (GRCm38) |
I626V |
probably damaging |
Het |
Zfp574 |
G |
A |
7: 25,080,473 (GRCm38) |
A307T |
probably benign |
Het |
|
Other mutations in Olfr1480 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00264:Olfr1480
|
APN |
19 |
13,529,850 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01446:Olfr1480
|
APN |
19 |
13,530,252 (GRCm38) |
missense |
probably benign |
0.00 |
IGL02300:Olfr1480
|
APN |
19 |
13,529,880 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02689:Olfr1480
|
APN |
19 |
13,529,807 (GRCm38) |
missense |
probably benign |
0.34 |
R0636:Olfr1480
|
UTSW |
19 |
13,530,249 (GRCm38) |
missense |
possibly damaging |
0.89 |
R1665:Olfr1480
|
UTSW |
19 |
13,529,838 (GRCm38) |
missense |
probably damaging |
1.00 |
R1708:Olfr1480
|
UTSW |
19 |
13,529,913 (GRCm38) |
missense |
probably damaging |
1.00 |
R2100:Olfr1480
|
UTSW |
19 |
13,530,434 (GRCm38) |
missense |
probably benign |
0.02 |
R2137:Olfr1480
|
UTSW |
19 |
13,530,438 (GRCm38) |
missense |
probably damaging |
0.98 |
R3879:Olfr1480
|
UTSW |
19 |
13,530,249 (GRCm38) |
missense |
probably damaging |
1.00 |
R3949:Olfr1480
|
UTSW |
19 |
13,530,020 (GRCm38) |
missense |
probably damaging |
0.99 |
R4780:Olfr1480
|
UTSW |
19 |
13,529,955 (GRCm38) |
missense |
probably benign |
0.30 |
R4953:Olfr1480
|
UTSW |
19 |
13,529,814 (GRCm38) |
missense |
probably null |
1.00 |
R5075:Olfr1480
|
UTSW |
19 |
13,530,273 (GRCm38) |
missense |
probably benign |
0.17 |
R5133:Olfr1480
|
UTSW |
19 |
13,530,078 (GRCm38) |
missense |
probably damaging |
1.00 |
R5656:Olfr1480
|
UTSW |
19 |
13,530,380 (GRCm38) |
missense |
probably benign |
|
R6853:Olfr1480
|
UTSW |
19 |
13,529,931 (GRCm38) |
missense |
possibly damaging |
0.48 |
R6890:Olfr1480
|
UTSW |
19 |
13,530,081 (GRCm38) |
missense |
probably damaging |
1.00 |
R7481:Olfr1480
|
UTSW |
19 |
13,530,453 (GRCm38) |
missense |
probably damaging |
1.00 |
R7663:Olfr1480
|
UTSW |
19 |
13,530,445 (GRCm38) |
missense |
probably damaging |
0.96 |
R8869:Olfr1480
|
UTSW |
19 |
13,530,528 (GRCm38) |
missense |
probably damaging |
1.00 |
R9425:Olfr1480
|
UTSW |
19 |
13,529,858 (GRCm38) |
missense |
probably damaging |
1.00 |
R9531:Olfr1480
|
UTSW |
19 |
13,530,572 (GRCm38) |
missense |
probably benign |
0.01 |
R9571:Olfr1480
|
UTSW |
19 |
13,530,333 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1088:Olfr1480
|
UTSW |
19 |
13,529,852 (GRCm38) |
missense |
possibly damaging |
0.64 |
Z1177:Olfr1480
|
UTSW |
19 |
13,530,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |