Incidental Mutation 'R5028:Or5an9'
ID 391538
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 042619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5028 (G1)
Quality Score 133
Status Not validated
Chromosome 19
Chromosomal Location 12186932-12187870 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 12187518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 196 (V196E)
Ref Sequence ENSEMBL: ENSMUSP00000150967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072316] [ENSMUST00000213759]
AlphaFold Q8VF59
Predicted Effect possibly damaging
Transcript: ENSMUST00000072316
AA Change: V196E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072158
Gene: ENSMUSG00000094133
AA Change: V196E

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 8.4e-56 PFAM
Pfam:7tm_1 42 309 2.4e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213759
AA Change: V196E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214138
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 97% (62/64)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,104,356 (GRCm39) S777C probably damaging Het
Ano5 T A 7: 51,187,458 (GRCm39) probably null Het
Arhgap17 T A 7: 122,893,896 (GRCm39) H508L probably benign Het
Arhgap29 T A 3: 121,803,709 (GRCm39) probably null Het
Atp12a T C 14: 56,624,435 (GRCm39) F961S probably damaging Het
B4galnt4 C A 7: 140,647,975 (GRCm39) P497Q probably benign Het
Camsap1 A G 2: 25,834,568 (GRCm39) S364P probably damaging Het
Ccdc150 C A 1: 54,302,636 (GRCm39) D85E probably benign Het
Cdc45 A G 16: 18,613,930 (GRCm39) Y291H probably benign Het
Comp A C 8: 70,829,290 (GRCm39) N289T probably damaging Het
Cops3 T A 11: 59,708,856 (GRCm39) probably benign Het
Crybg1 G A 10: 43,874,208 (GRCm39) H967Y possibly damaging Het
Csmd1 A T 8: 16,039,090 (GRCm39) F2423I probably damaging Het
Dact1 C A 12: 71,365,347 (GRCm39) C709* probably null Het
Dcxr T G 11: 120,617,273 (GRCm39) Q90P probably damaging Het
Ell A G 8: 71,043,349 (GRCm39) Y494C probably damaging Het
Emilin2 T C 17: 71,581,727 (GRCm39) E333G possibly damaging Het
Eml2 T C 7: 18,913,372 (GRCm39) probably null Het
Fam186b T A 15: 99,178,682 (GRCm39) M215L probably damaging Het
Gm17078 T A 14: 51,848,699 (GRCm39) R13W probably null Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Hspa14 A G 2: 3,499,206 (GRCm39) F196S possibly damaging Het
Ier5 A G 1: 154,974,849 (GRCm39) S110P possibly damaging Het
Kif1a T A 1: 92,982,049 (GRCm39) I793F possibly damaging Het
Lrrc43 T C 5: 123,646,176 (GRCm39) I643T probably damaging Het
Map3k19 A T 1: 127,750,969 (GRCm39) L794Q probably benign Het
Meox2 A T 12: 37,158,935 (GRCm39) M36L probably benign Het
Mgat5b T A 11: 116,875,855 (GRCm39) L693Q probably damaging Het
Mup4 T A 4: 59,958,124 (GRCm39) E148V possibly damaging Het
Napb T C 2: 148,545,057 (GRCm39) N162S possibly damaging Het
Nlgn2 T C 11: 69,718,563 (GRCm39) D339G probably benign Het
Nucks1 C T 1: 131,855,840 (GRCm39) R90C possibly damaging Het
Or11g7 T C 14: 50,691,196 (GRCm39) V229A probably damaging Het
Plekhd1 A T 12: 80,739,723 (GRCm39) D24V probably damaging Het
Prpf4b C T 13: 35,083,958 (GRCm39) P909L probably damaging Het
Rasgrp1 T A 2: 117,132,485 (GRCm39) K116* probably null Het
Ror1 A G 4: 100,269,133 (GRCm39) T324A possibly damaging Het
Slc24a4 G A 12: 102,230,629 (GRCm39) G505R probably damaging Het
Slc8a1 A G 17: 81,956,702 (GRCm39) I112T possibly damaging Het
Smarcc2 A G 10: 128,297,314 (GRCm39) S69G probably damaging Het
Smc2 A T 4: 52,458,447 (GRCm39) E429D probably damaging Het
Sry T C Y: 2,663,312 (GRCm39) D116G probably damaging Het
Tcea3 T A 4: 135,985,246 (GRCm39) V154E possibly damaging Het
Tigd2 G A 6: 59,188,205 (GRCm39) W357* probably null Het
Tmem177 T A 1: 119,838,419 (GRCm39) T87S probably benign Het
Treh A T 9: 44,594,186 (GRCm39) E144V probably null Het
Trpm6 T A 19: 18,764,124 (GRCm39) D243E probably damaging Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Vars2 A C 17: 35,970,365 (GRCm39) probably null Het
Vmn1r201 G A 13: 22,659,530 (GRCm39) W248* probably null Het
Yap1 T C 9: 8,001,690 (GRCm39) T99A probably benign Het
Zbtb8b C A 4: 129,326,793 (GRCm39) C91F probably damaging Het
Zfp882 A G 8: 72,668,498 (GRCm39) T442A possibly damaging Het
Zxdc G T 6: 90,359,320 (GRCm39) G651C probably benign 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
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
R6045:Or5an9 UTSW 19 12,187,659 (GRCm39) missense probably damaging 1.00
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'- ACACTATGTGCTCAGATGGTG -3'
(R):5'- TCTGTCAAAACTGGAGGAGC -3'

Sequencing Primer
(F):5'- CTCAGATGGTGATGGGAAGCTACAC -3'
(R):5'- CTGGATCGCAAATAGACAAAGATGCC -3'
Posted On 2016-06-06