Incidental Mutation 'R6723:Or10a49'
ID 529694
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 044841-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R6723 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 108467415-108468359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108467795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 189 (C189S)
Ref Sequence ENSEMBL: ENSMUSP00000150980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084753] [ENSMUST00000216500]
AlphaFold Q7TRU4
Predicted Effect probably damaging
Transcript: ENSMUST00000084753
AA Change: C189S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: C189S

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 damaging
Transcript: ENSMUST00000216500
AA Change: C189S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 A G 12: 112,745,228 (GRCm39) S740P probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
Bcl11a C A 11: 24,113,646 (GRCm39) P330T probably damaging Het
Cyp2d12 A T 15: 82,441,085 (GRCm39) I124F probably benign Het
Dhdds T C 4: 133,721,576 (GRCm39) T74A probably damaging Het
Dio3 G A 12: 110,245,991 (GRCm39) C109Y possibly damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock7 A G 4: 98,892,153 (GRCm39) V811A possibly damaging Het
Efcab3 A T 11: 105,007,906 (GRCm39) T329S possibly damaging Het
Esp1 A T 17: 41,039,747 (GRCm39) I11L probably benign Het
Fam13b A T 18: 34,631,079 (GRCm39) H33Q possibly damaging Het
Fam13c G A 10: 70,390,355 (GRCm39) D539N probably damaging Het
Fgd5 A G 6: 91,965,011 (GRCm39) T257A probably benign Het
Gm5134 A G 10: 75,844,453 (GRCm39) D603G probably benign Het
Gtpbp2 T C 17: 46,479,202 (GRCm39) V588A probably benign Het
Ift140 A G 17: 25,252,090 (GRCm39) I312M probably benign Het
Inpp5j T C 11: 3,450,640 (GRCm39) N571S probably damaging Het
Iqgap1 T G 7: 80,373,570 (GRCm39) D1473A probably benign Het
Ivl T G 3: 92,478,694 (GRCm39) K457T unknown Het
Kdm3b T C 18: 34,926,058 (GRCm39) I66T probably damaging Het
Kif21a A T 15: 90,824,649 (GRCm39) M1430K probably damaging Het
Klhl25 T A 7: 75,515,739 (GRCm39) L215Q possibly damaging Het
Lim2 T A 7: 43,085,099 (GRCm39) M163K probably benign Het
Lrig1 T C 6: 94,603,386 (GRCm39) D254G probably damaging Het
Mff A G 1: 82,729,387 (GRCm39) I122V possibly damaging Het
Mrpl15 A C 1: 4,852,789 (GRCm39) probably null Het
Mylk A G 16: 34,750,258 (GRCm39) Y1199C possibly damaging Het
Nlrp3 G A 11: 59,456,018 (GRCm39) C938Y probably damaging Het
Notch1 T C 2: 26,368,118 (GRCm39) N623D probably damaging Het
Obscn T G 11: 58,945,824 (GRCm39) E4129A probably damaging Het
Or4c116 G T 2: 88,942,640 (GRCm39) T72N possibly damaging Het
Or4d11 A G 19: 12,013,639 (GRCm39) S156P probably damaging Het
Or5k1 T C 16: 58,617,795 (GRCm39) K138R probably benign Het
Or6c65 A T 10: 129,604,284 (GRCm39) L306F probably benign Het
Parm1 C T 5: 91,770,856 (GRCm39) P291S probably damaging Het
Pcsk1 T A 13: 75,241,188 (GRCm39) probably null Het
Pgap6 C A 17: 26,339,610 (GRCm39) T616N probably damaging Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Piezo1 T G 8: 123,234,366 (GRCm39) Q93H probably benign Het
Pkd2l2 A T 18: 34,571,210 (GRCm39) Y575F probably damaging Het
Plekhn1 A C 4: 156,309,026 (GRCm39) F258C probably damaging Het
Pole C T 5: 110,471,482 (GRCm39) H1409Y probably benign Het
Rae1 T C 2: 172,854,041 (GRCm39) I273T probably damaging Het
Rag1 A G 2: 101,473,990 (GRCm39) V384A probably damaging Het
Rnaseh1 T C 12: 28,699,761 (GRCm39) L25P probably damaging Het
Serpinb12 A G 1: 106,876,888 (GRCm39) H68R probably benign Het
Sh3tc2 A T 18: 62,111,025 (GRCm39) I294F probably damaging Het
Sirpb1b A C 3: 15,613,858 (GRCm39) L75V possibly damaging Het
Slc12a6 A T 2: 112,168,287 (GRCm39) T277S probably damaging Het
Slc7a12 A T 3: 14,564,257 (GRCm39) E43D probably benign Het
Spata31d1c T A 13: 65,183,758 (GRCm39) D433E probably benign Het
Spata31h1 T C 10: 82,125,657 (GRCm39) Y2451C possibly damaging Het
Tbl2 A T 5: 135,188,130 (GRCm39) Y308F probably damaging Het
Tfec T C 6: 16,835,301 (GRCm39) Y159C probably damaging Het
Top1mt G T 15: 75,539,282 (GRCm39) T371K probably benign Het
Trim24 T C 6: 37,928,403 (GRCm39) V541A probably benign Het
Ttc16 T C 2: 32,658,049 (GRCm39) Y456C possibly damaging Het
Ttn G A 2: 76,600,441 (GRCm39) R17204* probably null Het
Ugt1a6b T C 1: 88,035,439 (GRCm39) V259A probably benign Het
Unc5a T C 13: 55,143,702 (GRCm39) W129R probably benign Het
Vmn1r63 T A 7: 5,805,948 (GRCm39) H228L probably damaging Het
Whamm G T 7: 81,245,868 (GRCm39) V775F probably damaging Het
Zfc3h1 T A 10: 115,256,638 (GRCm39) I1536N probably benign Het
Zfp1 T C 8: 112,396,971 (GRCm39) S317P probably damaging Het
Zfp58 T C 13: 67,642,192 (GRCm39) T52A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TGCAGATAGGTCATACTGGCC -3'
(R):5'- GATTTGCTGCAATCTGCCATC -3'

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