Incidental Mutation 'IGL01866:Olfr517'
ID 178500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr517
Ensembl Gene ENSMUSG00000066240
Gene Name olfactory receptor 517
Synonyms GA_x6K02T2PBJ9-11199311-11198367, MOR268-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01866
Quality Score
Status
Chromosome 7
Chromosomal Location 108867208-108872379 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108868799 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 118 (M118I)
Ref Sequence ENSEMBL: ENSMUSP00000150980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]
AlphaFold Q7TRU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000084753
AA Change: M118I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: M118I

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 7.4e-60 PFAM
Pfam:7tm_1 41 299 4.1e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207346
Predicted Effect possibly damaging
Transcript: ENSMUST00000216500
AA Change: M118I

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9430007A20Rik T C 4: 144,528,549 Y180H possibly damaging Het
Abi3bp A T 16: 56,671,973 I1361L probably benign Het
Amph A T 13: 19,142,002 D634V probably damaging Het
Ank1 G A 8: 23,093,855 V317I possibly damaging Het
Ap4e1 G A 2: 127,046,910 V460I possibly damaging Het
Arhgap19 A T 19: 41,786,577 H198Q probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cacna1g C T 11: 94,457,111 G717D probably damaging Het
Camkk2 A G 5: 122,763,950 S99P probably damaging Het
Catsperb T A 12: 101,509,311 Y371* probably null Het
Cbl A T 9: 44,153,825 C735* probably null Het
Ccdc146 C A 5: 21,333,054 A91S probably damaging Het
Col1a2 G T 6: 4,524,132 D531Y probably damaging Het
Dscam T A 16: 96,685,350 T1042S probably benign Het
Dtnb A G 12: 3,732,626 Y363C probably benign Het
Ear10 A G 14: 43,923,328 L14P probably damaging Het
Egf A G 3: 129,735,880 S294P probably benign Het
Erbb3 T C 10: 128,569,368 *1340W probably null Het
Fam217b A G 2: 178,420,431 T63A probably benign Het
Fig4 G A 10: 41,232,164 P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm6882 T A 7: 21,427,587 I119F probably damaging Het
Hdac10 C A 15: 89,124,533 G442W probably damaging Het
Mc2r C T 18: 68,407,423 M266I possibly damaging Het
Mep1b A G 18: 21,094,993 Q551R probably benign Het
Mtrf1 T A 14: 79,401,508 C27S probably benign Het
Myo5c T A 9: 75,269,582 M603K probably benign Het
Nuf2 A G 1: 169,498,838 L448P possibly damaging Het
Olfr1535 T C 13: 21,555,173 N283S probably benign Het
Olfr390 A T 11: 73,787,828 I297L probably benign Het
Olfr952 A T 9: 39,426,729 M114K probably damaging Het
Ppp2r5c T C 12: 110,567,827 Y375H probably benign Het
Pstpip2 A G 18: 77,877,625 I317M probably benign Het
Pxdn A G 12: 29,984,571 T208A probably benign Het
Rab3gap1 C T 1: 127,891,080 H116Y probably damaging Het
Rarb T A 14: 16,443,751 D179V probably benign Het
Rasal1 G A 5: 120,675,423 A621T probably damaging Het
Rnf6 G A 5: 146,210,907 R434C probably damaging Het
Scn10a C A 9: 119,635,502 E1011* probably null Het
Sec24d C T 3: 123,293,595 Q137* probably null Het
Slc35g1 C A 19: 38,403,194 A308E probably damaging Het
Smtnl1 C A 2: 84,818,745 C55F possibly damaging Het
Stt3a A T 9: 36,734,366 D676E probably benign Het
Sytl2 T C 7: 90,381,839 probably benign Het
Trabd2b A G 4: 114,408,920 T44A probably damaging Het
Trim12a T C 7: 104,304,153 probably benign Het
Tti1 A T 2: 158,007,698 D540E probably benign Het
Tubgcp6 A G 15: 89,103,488 V1094A probably benign Het
Vmn1r34 A G 6: 66,637,389 Y122H probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zfp579 T A 7: 4,994,258 Q218L possibly damaging Het
Other mutations in Olfr517
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Olfr517 APN 7 108868275 missense possibly damaging 0.94
IGL02131:Olfr517 APN 7 108868208 makesense probably null
IGL02456:Olfr517 APN 7 108869050 missense probably benign 0.19
IGL02604:Olfr517 APN 7 108868650 missense probably benign 0.00
IGL02975:Olfr517 APN 7 108868855 nonsense probably null
R0084:Olfr517 UTSW 7 108868800 missense probably damaging 0.98
R0504:Olfr517 UTSW 7 108868850 missense possibly damaging 0.91
R0748:Olfr517 UTSW 7 108869150 start codon destroyed probably null 1.00
R1428:Olfr517 UTSW 7 108868960 missense probably damaging 0.99
R1907:Olfr517 UTSW 7 108868498 missense possibly damaging 0.78
R2292:Olfr517 UTSW 7 108869016 missense probably benign 0.05
R3874:Olfr517 UTSW 7 108869128 missense probably damaging 0.98
R4091:Olfr517 UTSW 7 108868443 missense probably damaging 1.00
R4873:Olfr517 UTSW 7 108868786 missense probably damaging 0.99
R4875:Olfr517 UTSW 7 108868786 missense probably damaging 0.99
R5440:Olfr517 UTSW 7 108868626 missense probably damaging 1.00
R5920:Olfr517 UTSW 7 108868688 missense probably benign
R6723:Olfr517 UTSW 7 108868588 missense probably damaging 1.00
R6730:Olfr517 UTSW 7 108868573 missense probably benign 0.09
R6892:Olfr517 UTSW 7 108868515 missense probably damaging 1.00
R7473:Olfr517 UTSW 7 108868269 missense probably damaging 0.98
R8160:Olfr517 UTSW 7 108868788 missense possibly damaging 0.74
R8213:Olfr517 UTSW 7 108868519 missense probably benign
R8330:Olfr517 UTSW 7 108868839 missense probably damaging 1.00
R8913:Olfr517 UTSW 7 108868602 missense probably damaging 1.00
R9231:Olfr517 UTSW 7 108868633 missense possibly damaging 0.55
R9585:Olfr517 UTSW 7 108868345 missense probably benign 0.20
R9664:Olfr517 UTSW 7 108868356 missense probably damaging 1.00
R9778:Olfr517 UTSW 7 108868491 missense probably damaging 0.98
Z1186:Olfr517 UTSW 7 108868936 missense possibly damaging 0.85
Posted On 2014-05-07