Incidental Mutation 'R5440:Or10a49'
ID 428583
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 043005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.139) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 108467415-108468359 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108467833 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 176 (H176R)
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: H176R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081805
Gene: ENSMUSG00000066240
AA Change: H176R

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: H176R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Ropn1 C A 16: 34,491,542 (GRCm39) D102E probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G 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
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
Predicted Primers PCR Primer
(F):5'- TCCCTGTAGTGGATGGCATC -3'
(R):5'- AGCGACCATTTCCTTTGGG -3'

Sequencing Primer
(F):5'- CCCTGTAGTGGATGGCATCTTCAG -3'
(R):5'- CTCTTGGGGGCAATGGC -3'
Posted On 2016-09-01