Incidental Mutation 'R6941:Or5b99'
ID 540576
Institutional Source Beutler Lab
Gene Symbol Or5b99
Ensembl Gene ENSMUSG00000046913
Gene Name olfactory receptor family 5 subfamily B member 99
Synonyms GA_x6K02T2RE5P-3328502-3329434, Olfr1451, MOR202-1
MMRRC Submission 045055-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.151) question?
Stock # R6941 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12976352-12977284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12976861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 170 (N170K)
Ref Sequence ENSEMBL: ENSMUSP00000146874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063144] [ENSMUST00000207997]
AlphaFold Q8VFX5
Predicted Effect possibly damaging
Transcript: ENSMUST00000063144
AA Change: N170K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049885
Gene: ENSMUSG00000046913
AA Change: N170K

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2e-51 PFAM
Pfam:7TM_GPCR_Srsx 33 303 2.2e-5 PFAM
Pfam:7tm_1 39 289 6.9e-23 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207997
AA Change: N170K

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,140,370 (GRCm39) I1557F probably damaging Het
Acad10 A T 5: 121,787,420 (GRCm39) D176E probably damaging Het
Acta2 A T 19: 34,229,922 (GRCm39) V11E probably damaging Het
Ampd2 T C 3: 107,986,609 (GRCm39) H225R probably damaging Het
Arfgef3 A G 10: 18,501,203 (GRCm39) Y1016H possibly damaging Het
Atg7 C T 6: 114,650,639 (GRCm39) T83M possibly damaging Het
AU018091 A G 7: 3,209,267 (GRCm39) probably null Het
Birc2 A G 9: 7,819,469 (GRCm39) V481A probably benign Het
Cabp1 A T 5: 115,310,960 (GRCm39) D295E probably damaging Het
Cd180 A T 13: 102,842,699 (GRCm39) T582S probably benign Het
Cnksr3 A G 10: 7,076,758 (GRCm39) S145P probably damaging Het
Ddx27 A G 2: 166,857,297 (GRCm39) D15G possibly damaging Het
Dsc1 T C 18: 20,230,246 (GRCm39) Y353C probably benign Het
Dsg1c C T 18: 20,400,980 (GRCm39) T161I probably damaging Het
Epm2a A G 10: 11,266,829 (GRCm39) probably null Het
Fat2 T C 11: 55,152,914 (GRCm39) H3766R probably benign Het
Fjx1 A G 2: 102,280,903 (GRCm39) V344A probably benign Het
Frmd3 A G 4: 74,016,363 (GRCm39) I93V probably benign Het
Gbe1 TAGTAAGAGT TAGT 16: 70,230,444 (GRCm39) probably benign Het
Gdf15 A G 8: 71,082,794 (GRCm39) L104P possibly damaging Het
Glra3 G A 8: 56,393,961 (GRCm39) R24Q probably benign Het
Gvin2 G A 7: 105,551,187 (GRCm39) Q622* probably null Het
Ighv1-9 A T 12: 114,547,448 (GRCm39) M31K probably benign Het
Ipmk G A 10: 71,183,920 (GRCm39) G47S probably null Het
Itsn2 T C 12: 4,679,641 (GRCm39) I150T probably benign Het
Kcnq5 T C 1: 21,476,068 (GRCm39) Y545C probably damaging Het
Klk1b8 C A 7: 43,602,213 (GRCm39) H48Q possibly damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Lrrc34 T C 3: 30,678,969 (GRCm39) Y376C probably benign Het
Mast4 A T 13: 102,941,222 (GRCm39) D278E probably damaging Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Ndst4 T G 3: 125,403,160 (GRCm39) H422Q possibly damaging Het
Nek7 T C 1: 138,430,376 (GRCm39) E206G probably damaging Het
Nufip2 CCAGCAGCAGCAGCAGCAGCAG CCAGCAGCAGCAGCAGCAG 11: 77,577,122 (GRCm39) probably benign Het
Pglyrp2 T C 17: 32,635,048 (GRCm39) Y438C probably damaging Het
Pigr G T 1: 130,775,064 (GRCm39) W497L probably damaging Het
Pkd2l2 G T 18: 34,549,936 (GRCm39) V194L probably benign Het
Ppp1r16b A T 2: 158,538,068 (GRCm39) K5M probably damaging Het
Psat1 A T 19: 15,898,307 (GRCm39) S35R probably damaging Het
Qrfprl G A 6: 65,424,385 (GRCm39) M126I probably damaging Het
Rab11fip1 G A 8: 27,646,303 (GRCm39) Q258* probably null Het
Rad51d A G 11: 82,780,623 (GRCm39) L53P probably damaging Het
Rell2 G A 18: 38,091,341 (GRCm39) A169T probably benign Het
Rnf19b T C 4: 128,976,572 (GRCm39) I545T probably benign Het
Slc12a1 G T 2: 125,055,999 (GRCm39) E843D possibly damaging Het
Slc1a4 A G 11: 20,254,346 (GRCm39) S507P probably damaging Het
Slc6a1 G A 6: 114,290,473 (GRCm39) W316* probably null Het
Spesp1 A G 9: 62,180,152 (GRCm39) L252P probably damaging Het
Sphkap G A 1: 83,385,811 (GRCm39) probably benign Het
Srcap A G 7: 127,141,769 (GRCm39) T1850A probably damaging Het
Supv3l1 T C 10: 62,266,365 (GRCm39) T604A possibly damaging Het
Tacr1 A G 6: 82,380,846 (GRCm39) T86A possibly damaging Het
Tenm3 T C 8: 49,127,451 (GRCm39) R76G probably damaging Het
Tmprss6 C A 15: 78,330,977 (GRCm39) A419S probably damaging Het
Usp54 T G 14: 20,612,177 (GRCm39) I880L probably benign Het
Wwp2 T A 8: 108,275,134 (GRCm39) V377D probably damaging Het
Zfp735 A T 11: 73,581,159 (GRCm39) E65D probably benign Het
Zfy2 T C Y: 2,121,491 (GRCm39) E134G probably benign Het
Other mutations in Or5b99
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Or5b99 APN 19 12,976,683 (GRCm39) missense probably damaging 1.00
IGL01301:Or5b99 APN 19 12,976,781 (GRCm39) missense probably damaging 0.99
IGL01369:Or5b99 APN 19 12,977,125 (GRCm39) missense possibly damaging 0.78
IGL02098:Or5b99 APN 19 12,976,937 (GRCm39) missense probably benign 0.00
IGL02106:Or5b99 APN 19 12,976,929 (GRCm39) missense possibly damaging 0.80
IGL02369:Or5b99 APN 19 12,977,072 (GRCm39) missense probably damaging 1.00
ANU18:Or5b99 UTSW 19 12,976,781 (GRCm39) missense probably damaging 0.99
R0316:Or5b99 UTSW 19 12,976,766 (GRCm39) missense probably damaging 1.00
R0926:Or5b99 UTSW 19 12,976,554 (GRCm39) missense probably damaging 1.00
R0988:Or5b99 UTSW 19 12,977,151 (GRCm39) missense probably benign 0.39
R1268:Or5b99 UTSW 19 12,976,625 (GRCm39) missense possibly damaging 0.80
R1509:Or5b99 UTSW 19 12,976,815 (GRCm39) missense possibly damaging 0.54
R1991:Or5b99 UTSW 19 12,976,866 (GRCm39) missense possibly damaging 0.60
R2103:Or5b99 UTSW 19 12,976,866 (GRCm39) missense possibly damaging 0.60
R2132:Or5b99 UTSW 19 12,976,402 (GRCm39) missense probably benign 0.21
R2206:Or5b99 UTSW 19 12,976,404 (GRCm39) missense probably benign 0.06
R3687:Or5b99 UTSW 19 12,976,466 (GRCm39) missense probably damaging 1.00
R4077:Or5b99 UTSW 19 12,977,235 (GRCm39) missense probably damaging 1.00
R4803:Or5b99 UTSW 19 12,976,533 (GRCm39) missense probably damaging 1.00
R4948:Or5b99 UTSW 19 12,977,195 (GRCm39) missense probably benign 0.06
R4999:Or5b99 UTSW 19 12,976,583 (GRCm39) missense probably benign 0.03
R6274:Or5b99 UTSW 19 12,977,234 (GRCm39) missense probably damaging 0.97
R6843:Or5b99 UTSW 19 12,976,362 (GRCm39) missense probably benign 0.09
R6928:Or5b99 UTSW 19 12,977,202 (GRCm39) missense probably damaging 0.99
R7485:Or5b99 UTSW 19 12,976,922 (GRCm39) missense probably benign 0.03
R7611:Or5b99 UTSW 19 12,976,431 (GRCm39) missense possibly damaging 0.93
R7823:Or5b99 UTSW 19 12,976,781 (GRCm39) missense probably damaging 0.99
R8948:Or5b99 UTSW 19 12,976,445 (GRCm39) missense probably damaging 1.00
R8950:Or5b99 UTSW 19 12,976,445 (GRCm39) missense probably damaging 1.00
R8970:Or5b99 UTSW 19 12,976,353 (GRCm39) start codon destroyed probably null 1.00
R9155:Or5b99 UTSW 19 12,976,428 (GRCm39) missense probably benign 0.00
R9236:Or5b99 UTSW 19 12,976,763 (GRCm39) missense probably damaging 0.99
R9556:Or5b99 UTSW 19 12,976,938 (GRCm39) missense probably benign 0.12
R9563:Or5b99 UTSW 19 12,976,983 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GCGCTGCACAGATGTTCTTC -3'
(R):5'- GGTCTGACTTCATCTTCAAGACAG -3'

Sequencing Primer
(F):5'- GCCACTGGGGAAAATTACCTCTTAG -3'
(R):5'- GAATCACTTCACTGAGGTG -3'
Posted On 2018-11-06