Incidental Mutation 'R6730:Or10a49'
ID 530020
Institutional Source Beutler Lab
Gene Symbol Or10a49
Ensembl Gene ENSMUSG00000066240
Gene Name olfactory receptor family 10 subfamily A member 49
Synonyms MOR268-4, Olfr517, GA_x6K02T2PBJ9-11199311-11198367
MMRRC Submission 044848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6730 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 108467415-108468359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108467780 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 194 (F194I)
Ref Sequence ENSEMBL: ENSMUSP00000150980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]
AlphaFold Q7TRU4
Predicted Effect probably benign
Transcript: ENSMUST00000084753
AA Change: F194I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: F194I

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 probably benign
Transcript: ENSMUST00000216500
AA Change: F194I

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik T A 3: 116,777,124 (GRCm39) *59R probably null Het
Adam10 G T 9: 70,647,458 (GRCm39) probably null Het
Adam2 A T 14: 66,275,025 (GRCm39) N569K possibly damaging Het
Adam20 T C 8: 41,249,696 (GRCm39) V602A probably benign Het
Adgrb3 T C 1: 25,133,375 (GRCm39) Y1237C probably damaging Het
Ago3 T C 4: 126,265,338 (GRCm39) T318A probably null Het
Aknad1 G A 3: 108,659,655 (GRCm39) G223D possibly damaging Het
Camkv T C 9: 107,825,516 (GRCm39) S478P possibly damaging Het
Ccl27a T A 4: 41,773,342 (GRCm39) H39L probably damaging Het
Ccser2 C A 14: 36,601,043 (GRCm39) S447I probably damaging Het
Clvs2 A G 10: 33,404,517 (GRCm39) L233P probably damaging Het
Csn1s2b T A 5: 87,970,127 (GRCm39) H124Q probably benign Het
Dnhd1 T C 7: 105,353,082 (GRCm39) L2745P probably benign Het
Dync1i2 T A 2: 71,077,484 (GRCm39) F219L probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Ephb6 C T 6: 41,594,308 (GRCm39) Q613* probably null Het
Erc2 A C 14: 27,620,524 (GRCm39) D50A possibly damaging Het
Fam149a T A 8: 45,834,211 (GRCm39) D196V probably damaging Het
Ficd T C 5: 113,876,773 (GRCm39) V316A probably damaging Het
Gstm6 T A 3: 107,850,041 (GRCm39) K18* probably null Het
Ighv1-62-1 A T 12: 115,350,512 (GRCm39) W52R probably benign Het
Klhl18 C T 9: 110,257,979 (GRCm39) C417Y probably damaging Het
Ly9 T A 1: 171,432,737 (GRCm39) Y92F probably benign Het
Mettl18 C T 1: 163,824,750 (GRCm39) T357I probably damaging Het
Myoz2 C A 3: 122,810,276 (GRCm39) G100C probably damaging Het
Or4k47 A G 2: 111,452,080 (GRCm39) V113A probably damaging Het
Or7h8 T C 9: 20,123,798 (GRCm39) I51T probably benign Het
Pars2 C T 4: 106,510,628 (GRCm39) L128F probably damaging Het
Pcsk6 G T 7: 65,629,996 (GRCm39) R374L probably damaging Het
Ptpn3 T C 4: 57,270,088 (GRCm39) T25A probably benign Het
Rab11fip1 G A 8: 27,633,257 (GRCm39) P1150S probably damaging Het
Rabep1 A G 11: 70,831,212 (GRCm39) Q831R possibly damaging Het
Rad17 T C 13: 100,786,253 (GRCm39) probably benign Het
Rxfp1 T A 3: 79,557,898 (GRCm39) R527* probably null Het
Scnn1b C T 7: 121,502,100 (GRCm39) P253S probably damaging Het
Skic2 G A 17: 35,064,166 (GRCm39) R507* probably null Het
Slc2a7 T C 4: 150,242,605 (GRCm39) F231S probably damaging Het
Svil A G 18: 5,049,311 (GRCm39) N196S probably benign Het
Tent5c T A 3: 100,380,273 (GRCm39) N161I probably benign Het
Urb1 T C 16: 90,575,971 (GRCm39) S862G possibly damaging Het
Usp30 T C 5: 114,241,770 (GRCm39) S87P probably damaging Het
Vmn1r177 T A 7: 23,565,237 (GRCm39) H213L probably damaging Het
Vmn2r106 T A 17: 20,499,096 (GRCm39) I272L possibly damaging Het
Vmn2r120 T A 17: 57,832,012 (GRCm39) D259V probably benign Het
Other mutations in Or10a49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01284:Or10a49 APN 7 108,467,482 (GRCm39) missense possibly damaging 0.94
IGL01866:Or10a49 APN 7 108,468,006 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- GCAGATAGGTCATACTGGCC -3'
(R):5'- ATTTGCTGCAATCTGCCATC -3'

Sequencing Primer
(F):5'- CCGTGCCATAGAAGAGGGTGAC -3'
(R):5'- CCTACCCTGTGATTATGAACAAAAG -3'
Posted On 2018-08-01