Incidental Mutation 'IGL01866:Or10a49'
ID 178500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or10a49
Ensembl Gene ENSMUSG00000066240
Gene Name olfactory receptor family 10 subfamily A member 49
Synonyms MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # IGL01866
Quality Score
Status
Chromosome 7
Chromosomal Location 108467415-108468359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108468006 bp (GRCm39)
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
Aadacl4fm1 T C 4: 144,255,119 (GRCm39) Y180H possibly damaging Het
Abi3bp A T 16: 56,492,336 (GRCm39) I1361L probably benign Het
Amph A T 13: 19,326,172 (GRCm39) D634V probably damaging Het
Ank1 G A 8: 23,583,871 (GRCm39) V317I possibly damaging Het
Ap4e1 G A 2: 126,888,830 (GRCm39) V460I possibly damaging Het
Arhgap19 A T 19: 41,775,016 (GRCm39) H198Q probably benign Het
Cacna1g C T 11: 94,347,937 (GRCm39) G717D probably damaging Het
Camkk2 A G 5: 122,902,013 (GRCm39) S99P probably damaging Het
Catsperb T A 12: 101,475,570 (GRCm39) Y371* probably null Het
Cbl A T 9: 44,065,122 (GRCm39) C735* probably null Het
Ccdc146 C A 5: 21,538,052 (GRCm39) A91S probably damaging Het
Col1a2 G T 6: 4,524,132 (GRCm39) D531Y probably damaging Het
Dscam T A 16: 96,486,550 (GRCm39) T1042S probably benign Het
Dtnb A G 12: 3,782,626 (GRCm39) Y363C probably benign Het
Ear10 A G 14: 44,160,785 (GRCm39) L14P probably damaging Het
Egf A G 3: 129,529,529 (GRCm39) S294P probably benign Het
Erbb3 T C 10: 128,405,237 (GRCm39) *1340W probably null Het
Fam217b A G 2: 178,062,224 (GRCm39) T63A probably benign Het
Fig4 G A 10: 41,108,160 (GRCm39) P680L possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Hdac10 C A 15: 89,008,736 (GRCm39) G442W probably damaging Het
Mc2r C T 18: 68,540,494 (GRCm39) M266I possibly damaging Het
Mep1b A G 18: 21,228,050 (GRCm39) Q551R probably benign Het
Mtrf1 T A 14: 79,638,948 (GRCm39) C27S probably benign Het
Myo5c T A 9: 75,176,864 (GRCm39) M603K probably benign Het
Nuf2 A G 1: 169,326,407 (GRCm39) L448P possibly damaging Het
Or1e30 A T 11: 73,678,654 (GRCm39) I297L probably benign Het
Or2b7 T C 13: 21,739,343 (GRCm39) N283S probably benign Het
Or8g33 A T 9: 39,338,025 (GRCm39) M114K probably damaging Het
Ppp2r5c T C 12: 110,534,261 (GRCm39) Y375H probably benign Het
Pstpip2 A G 18: 77,965,325 (GRCm39) I317M probably benign Het
Pxdn A G 12: 30,034,570 (GRCm39) T208A probably benign Het
Rab3gap1 C T 1: 127,818,817 (GRCm39) H116Y probably damaging Het
Rarb T A 14: 16,443,751 (GRCm38) D179V probably benign Het
Rasal1 G A 5: 120,813,488 (GRCm39) A621T probably damaging Het
Rnf6 G A 5: 146,147,717 (GRCm39) R434C probably damaging Het
Scn10a C A 9: 119,464,568 (GRCm39) E1011* probably null Het
Sec24d C T 3: 123,087,244 (GRCm39) Q137* probably null Het
Slc35g1 C A 19: 38,391,642 (GRCm39) A308E probably damaging Het
Smtnl1 C A 2: 84,649,089 (GRCm39) C55F possibly damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Stt3a A T 9: 36,645,662 (GRCm39) D676E probably benign Het
Sytl2 T C 7: 90,031,047 (GRCm39) probably benign Het
Trabd2b A G 4: 114,266,117 (GRCm39) T44A probably damaging Het
Trim12a T C 7: 103,953,360 (GRCm39) probably benign Het
Tti1 A T 2: 157,849,618 (GRCm39) D540E probably benign Het
Tubgcp6 A G 15: 88,987,691 (GRCm39) V1094A probably benign Het
Vmn1r34 A G 6: 66,614,373 (GRCm39) Y122H probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp579 T A 7: 4,997,257 (GRCm39) Q218L possibly damaging Het
Other mutations in Or10a49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Or10a49 APN 7 108,467,482 (GRCm39) missense possibly damaging 0.94
IGL02131:Or10a49 APN 7 108,467,415 (GRCm39) makesense probably null
IGL02456:Or10a49 APN 7 108,468,257 (GRCm39) missense probably benign 0.19
IGL02604:Or10a49 APN 7 108,467,857 (GRCm39) missense probably benign 0.00
IGL02975:Or10a49 APN 7 108,468,062 (GRCm39) nonsense probably null
R0084:Or10a49 UTSW 7 108,468,007 (GRCm39) missense probably damaging 0.98
R0504:Or10a49 UTSW 7 108,468,057 (GRCm39) missense possibly damaging 0.91
R0748:Or10a49 UTSW 7 108,468,357 (GRCm39) start codon destroyed probably null 1.00
R1428:Or10a49 UTSW 7 108,468,167 (GRCm39) missense probably damaging 0.99
R1907:Or10a49 UTSW 7 108,467,705 (GRCm39) missense possibly damaging 0.78
R2292:Or10a49 UTSW 7 108,468,223 (GRCm39) missense probably benign 0.05
R3874:Or10a49 UTSW 7 108,468,335 (GRCm39) missense probably damaging 0.98
R4091:Or10a49 UTSW 7 108,467,650 (GRCm39) missense probably damaging 1.00
R4873:Or10a49 UTSW 7 108,467,993 (GRCm39) missense probably damaging 0.99
R4875:Or10a49 UTSW 7 108,467,993 (GRCm39) missense probably damaging 0.99
R5440:Or10a49 UTSW 7 108,467,833 (GRCm39) missense probably damaging 1.00
R5920:Or10a49 UTSW 7 108,467,895 (GRCm39) missense probably benign
R6723:Or10a49 UTSW 7 108,467,795 (GRCm39) missense probably damaging 1.00
R6730:Or10a49 UTSW 7 108,467,780 (GRCm39) missense probably benign 0.09
R6892:Or10a49 UTSW 7 108,467,722 (GRCm39) missense probably damaging 1.00
R7473:Or10a49 UTSW 7 108,467,476 (GRCm39) missense probably damaging 0.98
R8160:Or10a49 UTSW 7 108,467,995 (GRCm39) missense possibly damaging 0.74
R8213:Or10a49 UTSW 7 108,467,726 (GRCm39) missense probably benign
R8330:Or10a49 UTSW 7 108,468,046 (GRCm39) missense probably damaging 1.00
R8913:Or10a49 UTSW 7 108,467,809 (GRCm39) missense probably damaging 1.00
R9231:Or10a49 UTSW 7 108,467,840 (GRCm39) missense possibly damaging 0.55
R9585:Or10a49 UTSW 7 108,467,552 (GRCm39) missense probably benign 0.20
R9664:Or10a49 UTSW 7 108,467,563 (GRCm39) missense probably damaging 1.00
R9778:Or10a49 UTSW 7 108,467,698 (GRCm39) missense probably damaging 0.98
Z1186:Or10a49 UTSW 7 108,468,143 (GRCm39) missense possibly damaging 0.85
Posted On 2014-05-07