Incidental Mutation 'R6045:Or5an9'
ID 483821
Institutional Source Beutler Lab
Gene Symbol Or5an9
Ensembl Gene ENSMUSG00000094133
Gene Name olfactory receptor family 5 subfamily AN member 9
Synonyms MOR214-5, Olfr1431, GA_x6K02T2RE5P-2573738-2574676
MMRRC Submission 044213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6045 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 12186932-12187870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 12187659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 243 (A243D)
Ref Sequence ENSEMBL: ENSMUSP00000150967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072316] [ENSMUST00000213759]
AlphaFold Q8VF59
Predicted Effect probably damaging
Transcript: ENSMUST00000072316
AA Change: A243D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: A243D

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.4e-56 PFAM
Pfam:7tm_1 42 309 2.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213759
AA Change: A243D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214138
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T C 8: 79,955,996 (GRCm39) Y87C probably benign Het
5530401A14Rik A G 11: 81,784,694 (GRCm39) probably benign Het
Adamts5 T C 16: 85,696,188 (GRCm39) D323G probably damaging Het
Albfm1 A T 5: 90,732,848 (GRCm39) Q553L possibly damaging Het
Bicc1 G A 10: 70,792,911 (GRCm39) R248* probably null Het
Bivm T G 1: 44,158,233 (GRCm39) probably benign Het
Btnl12 G T 16: 37,676,384 (GRCm39) Q128K probably benign Het
Ccdc8 A C 7: 16,729,956 (GRCm39) T482P unknown Het
Ccnb2 T C 9: 70,326,375 (GRCm39) I21V probably benign Het
Cfap73 A T 5: 120,769,777 (GRCm39) I82N probably damaging Het
Chd3 A C 11: 69,242,944 (GRCm39) F1426V possibly damaging Het
Clcn2 A T 16: 20,530,438 (GRCm39) probably null Het
Col6a5 T C 9: 105,803,117 (GRCm39) N1283D unknown Het
Cyp39a1 G T 17: 44,042,882 (GRCm39) G411W probably damaging Het
D130052B06Rik A T 11: 33,574,008 (GRCm39) I202L unknown Het
Defa38 A T 8: 21,585,248 (GRCm39) C65S possibly damaging Het
Dlgap1 T C 17: 71,125,093 (GRCm39) L948P probably damaging Het
Dnah3 C T 7: 119,566,745 (GRCm39) V2494M probably damaging Het
Dysf T A 6: 84,091,054 (GRCm39) V1076D probably damaging Het
Eif2ak4 C A 2: 118,219,296 (GRCm39) S36* probably null Het
Elmod3 C T 6: 72,545,851 (GRCm39) R297H probably benign Het
Epas1 C A 17: 87,116,827 (GRCm39) R166S probably damaging Het
Erv3 A G 2: 131,697,942 (GRCm39) L139P probably damaging Het
Fryl A G 5: 73,275,894 (GRCm39) V90A probably damaging Het
Fxr2 A G 11: 69,541,877 (GRCm39) R439G possibly damaging Het
Gabrd A T 4: 155,470,931 (GRCm39) V259D possibly damaging Het
Galnt10 A G 11: 57,674,619 (GRCm39) Y536C probably damaging Het
Gbp10 A T 5: 105,366,269 (GRCm39) L545Q probably damaging Het
Gfpt1 A T 6: 87,062,239 (GRCm39) I517F probably damaging Het
Glb1 T C 9: 114,267,010 (GRCm39) Y225H probably damaging Het
Gm1110 C T 9: 26,794,505 (GRCm39) probably null Het
Gmps C T 3: 63,887,558 (GRCm39) P10L probably benign Het
Greb1l T A 18: 10,547,068 (GRCm39) V1465D probably damaging Het
Helz2 A G 2: 180,882,106 (GRCm39) V229A probably benign Het
Hipk1 A T 3: 103,654,218 (GRCm39) L924Q probably benign Het
Ifngr1 T G 10: 19,484,909 (GRCm39) L303V possibly damaging Het
Kif22 T C 7: 126,630,250 (GRCm39) N429D probably benign Het
Ktn1 T C 14: 47,914,253 (GRCm39) Y401H probably damaging Het
Lars2 T G 9: 123,201,053 (GRCm39) I39S probably damaging Het
Lipf C T 19: 33,944,244 (GRCm39) A151V probably damaging Het
Lrp1 A T 10: 127,402,469 (GRCm39) M2234K probably damaging Het
Lrp1b A G 2: 40,591,825 (GRCm39) V56A unknown Het
Lyar T A 5: 38,391,352 (GRCm39) H350Q probably benign Het
Mill2 A T 7: 18,590,489 (GRCm39) M190L probably benign Het
Morc3 A G 16: 93,671,733 (GRCm39) D921G probably damaging Het
Mpp2 G T 11: 101,950,180 (GRCm39) T558K probably benign Het
Myh4 A G 11: 67,135,550 (GRCm39) D379G probably benign Het
Neb A C 2: 52,084,437 (GRCm39) probably null Het
Nedd1 G A 10: 92,530,962 (GRCm39) R376* probably null Het
Nlrc4 T G 17: 74,753,954 (GRCm39) D143A probably damaging Het
Nol10 G T 12: 17,398,479 (GRCm39) probably benign Het
Opn1sw A G 6: 29,379,869 (GRCm39) S122P probably damaging Het
Or10j3b C T 1: 173,044,067 (GRCm39) T283I possibly damaging Het
Or4f14d T G 2: 111,960,881 (GRCm39) I92L possibly damaging Het
Or52h7 C T 7: 104,213,974 (GRCm39) T182I probably benign Het
Or5h27 T A 16: 59,006,454 (GRCm39) T131S probably benign Het
Orm1 T A 4: 63,262,929 (GRCm39) I32N possibly damaging Het
Pcdhb5 T A 18: 37,454,628 (GRCm39) V336E probably damaging Het
Poli C T 18: 70,650,540 (GRCm39) R363K possibly damaging Het
Rabgap1l T C 1: 160,472,893 (GRCm39) E515G probably benign Het
Rem2 C A 14: 54,715,225 (GRCm39) T134N probably damaging Het
Rfc1 A G 5: 65,436,892 (GRCm39) I596T probably damaging Het
Ruvbl2 A T 7: 45,074,433 (GRCm39) I202N probably damaging Het
S100a6 T A 3: 90,521,186 (GRCm39) I38N probably damaging Het
Scel T C 14: 103,829,649 (GRCm39) C435R probably benign Het
Slc6a13 T A 6: 121,298,587 (GRCm39) W146R probably damaging Het
Sorcs1 T A 19: 50,178,555 (GRCm39) K856* probably null Het
Speer4e1 T G 5: 14,987,195 (GRCm39) K70T possibly damaging Het
Sucla2 T A 14: 73,806,404 (GRCm39) C158* probably null Het
Tie1 G A 4: 118,341,888 (GRCm39) S187L probably benign Het
Tmem200a T C 10: 25,868,905 (GRCm39) T455A probably damaging Het
Tra2a A G 6: 49,229,398 (GRCm39) probably benign Het
Tsnaxip1 A C 8: 106,570,819 (GRCm39) E615A probably benign Het
Tuba3b T A 6: 145,566,900 (GRCm39) N380K probably damaging Het
Umod C T 7: 119,076,046 (GRCm39) S240N probably benign Het
Vmn2r92 G A 17: 18,388,305 (GRCm39) probably null Het
Vps13b A G 15: 35,671,462 (GRCm39) E1655G probably damaging Het
Vwde A T 6: 13,219,935 (GRCm39) I72N probably damaging Het
Wbp11 G A 6: 136,798,533 (GRCm39) A172V probably damaging Het
Zbtb41 T A 1: 139,351,770 (GRCm39) N294K probably benign Het
Zfhx4 T A 3: 5,462,019 (GRCm39) H1206Q probably damaging Het
Other mutations in Or5an9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Or5an9 APN 19 12,187,404 (GRCm39) missense possibly damaging 0.65
IGL02206:Or5an9 APN 19 12,187,824 (GRCm39) missense probably damaging 1.00
IGL02938:Or5an9 APN 19 12,187,046 (GRCm39) missense probably benign 0.00
PIT4812001:Or5an9 UTSW 19 12,187,617 (GRCm39) missense probably damaging 1.00
R0402:Or5an9 UTSW 19 12,186,953 (GRCm39) missense probably damaging 1.00
R0661:Or5an9 UTSW 19 12,187,068 (GRCm39) missense probably damaging 1.00
R1193:Or5an9 UTSW 19 12,187,803 (GRCm39) missense probably damaging 1.00
R1483:Or5an9 UTSW 19 12,187,114 (GRCm39) nonsense probably null
R4091:Or5an9 UTSW 19 12,187,143 (GRCm39) missense probably damaging 1.00
R4280:Or5an9 UTSW 19 12,187,302 (GRCm39) missense probably damaging 1.00
R5028:Or5an9 UTSW 19 12,187,518 (GRCm39) missense possibly damaging 0.94
R5540:Or5an9 UTSW 19 12,187,824 (GRCm39) missense probably damaging 1.00
R6042:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
R7104:Or5an9 UTSW 19 12,187,242 (GRCm39) missense possibly damaging 0.82
R9068:Or5an9 UTSW 19 12,187,703 (GRCm39) missense probably damaging 1.00
R9165:Or5an9 UTSW 19 12,187,286 (GRCm39) missense probably damaging 0.99
Z1088:Or5an9 UTSW 19 12,187,854 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TCTGTGGCCCTAATGTCATTAG -3'
(R):5'- AACCGCTTCATGGCATCTTTG -3'

Posted On 2017-07-14