Incidental Mutation 'R6048:Or5ac20'
ID 483416
Institutional Source Beutler Lab
Gene Symbol Or5ac20
Ensembl Gene ENSMUSG00000048810
Gene Name olfactory receptor family 5 subfamily AC member 20
Synonyms GA_x54KRFPKG5P-55498766-55497843, Olfr202, MOR182-1
MMRRC Submission 044216-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6048 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 59103935-59104858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59104342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 173 (V173I)
Ref Sequence ENSEMBL: ENSMUSP00000151058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049859] [ENSMUST00000201687] [ENSMUST00000217485]
AlphaFold Q8VGQ3
Predicted Effect probably benign
Transcript: ENSMUST00000049859
AA Change: V173I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000059496
Gene: ENSMUSG00000048810
AA Change: V173I

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 5.9e-47 PFAM
Pfam:7TM_GPCR_Srsx 35 296 1.9e-6 PFAM
Pfam:7tm_1 41 290 1.2e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201687
AA Change: V173I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000144622
Gene: ENSMUSG00000048810
AA Change: V173I

DomainStartEndE-ValueType
Pfam:7tm_4 30 306 3.4e-46 PFAM
Pfam:7tm_1 40 289 1.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217485
AA Change: V173I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 98% (60/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a2 T C 9: 71,169,049 (GRCm39) I177T probably damaging Het
Aopep T A 13: 63,388,139 (GRCm39) F39L probably damaging Het
Arl4c A G 1: 88,629,350 (GRCm39) S13P possibly damaging Het
Bst1 G T 5: 43,976,306 (GRCm39) probably benign Het
Carmil3 G A 14: 55,741,302 (GRCm39) R1029Q probably benign Het
Cflar A G 1: 58,780,202 (GRCm39) T269A probably benign Het
Clcnka T A 4: 141,121,798 (GRCm39) Y236F probably damaging Het
Clmp T A 9: 40,682,405 (GRCm39) I63N probably damaging Het
Cln6 T C 9: 62,751,908 (GRCm39) L44P probably damaging Het
Col5a3 C T 9: 20,718,915 (GRCm39) A280T unknown Het
Dact2 A G 17: 14,417,567 (GRCm39) L211P probably damaging Het
Dclk2 G T 3: 86,813,272 (GRCm39) Q225K probably damaging Het
Ddx60 T C 8: 62,453,616 (GRCm39) F1245S probably benign Het
Efcab3 A G 11: 104,835,259 (GRCm39) K3540E unknown Het
Eif3i T C 4: 129,487,145 (GRCm39) N240S probably benign Het
Enpp1 T C 10: 24,536,152 (GRCm39) Y416C probably damaging Het
Epb42 T A 2: 120,854,889 (GRCm39) R565S probably benign Het
Eral1 G A 11: 77,966,609 (GRCm39) P217L probably benign Het
Fbxl16 A G 17: 26,035,967 (GRCm39) Y188C probably benign Het
Fgd3 G A 13: 49,427,224 (GRCm39) P503S probably benign Het
Frem3 T C 8: 81,340,062 (GRCm39) L785P probably benign Het
Gadl1 A G 9: 115,835,769 (GRCm39) probably null Het
Gm10787 C T 10: 76,857,676 (GRCm39) noncoding transcript Het
Gm6563 A G 19: 23,653,246 (GRCm39) K12R probably benign Het
Grm5 T C 7: 87,675,758 (GRCm39) L424P probably damaging Het
H2ac11 A G 13: 22,227,006 (GRCm39) V31A probably benign Het
Il17re T C 6: 113,447,069 (GRCm39) S607P possibly damaging Het
Ints7 A G 1: 191,353,524 (GRCm39) probably benign Het
Itih1 A G 14: 30,651,780 (GRCm39) M854T possibly damaging Het
Kif1b A G 4: 149,348,086 (GRCm39) L315P probably damaging Het
Ms4a6b T C 19: 11,497,734 (GRCm39) V11A possibly damaging Het
Mxd1 C A 6: 86,627,966 (GRCm39) D191Y probably damaging Het
Nol8 T A 13: 49,807,160 (GRCm39) probably null Het
Ntn4 T A 10: 93,543,128 (GRCm39) probably null Het
Nxph1 A T 6: 9,247,103 (GRCm39) T25S probably benign Het
Or1n1 A G 2: 36,749,853 (GRCm39) V169A probably benign Het
Or2bd2 A C 7: 6,443,354 (GRCm39) T152P possibly damaging Het
Or3a1 A T 11: 74,225,961 (GRCm39) I32K probably benign Het
Or51f1d A G 7: 102,700,526 (GRCm39) N7S probably benign Het
Or6c219 A G 10: 129,781,695 (GRCm39) F79L possibly damaging Het
Oxsm T A 14: 16,242,308 (GRCm38) M154L possibly damaging Het
Papolg A C 11: 23,841,815 (GRCm39) I36S probably benign Het
Pde3b T A 7: 114,107,502 (GRCm39) H544Q probably benign Het
Pdzd2 A T 15: 12,592,656 (GRCm39) probably null Het
Prkce C A 17: 86,800,775 (GRCm39) P397Q probably benign Het
Ralgapa2 T C 2: 146,276,765 (GRCm39) S492G possibly damaging Het
Rnf216 A G 5: 143,054,659 (GRCm39) Y630H probably damaging Het
Ruvbl1 C T 6: 88,459,973 (GRCm39) T211I possibly damaging Het
Scyl2 A T 10: 89,481,348 (GRCm39) D666E probably benign Het
Sertad2 A G 11: 20,598,436 (GRCm39) T211A probably benign Het
Sipa1l1 A T 12: 82,487,643 (GRCm39) Q1639L probably benign Het
Snx5 T C 2: 144,101,073 (GRCm39) D98G probably damaging Het
Sorcs2 G T 5: 36,185,332 (GRCm39) probably null Het
Spmip2 T C 3: 79,313,192 (GRCm39) S89P probably damaging Het
Tanc2 G A 11: 105,758,543 (GRCm39) R768Q probably damaging Het
Tmem132d A G 5: 128,346,181 (GRCm39) S114P probably benign Het
Tns2 G A 15: 102,019,846 (GRCm39) G579R probably damaging Het
Usp37 A T 1: 74,517,295 (GRCm39) probably null Het
Vmn1r79 T C 7: 11,910,448 (GRCm39) I110T probably damaging Het
Vps37a C T 8: 40,981,363 (GRCm39) L69F probably damaging Het
Xirp2 T A 2: 67,338,587 (GRCm39) I276N possibly damaging Het
Zfp946 G A 17: 22,673,821 (GRCm39) E192K probably benign Het
Other mutations in Or5ac20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02271:Or5ac20 APN 16 59,104,584 (GRCm39) missense probably damaging 0.99
IGL02439:Or5ac20 APN 16 59,104,818 (GRCm39) missense probably damaging 1.00
IGL02798:Or5ac20 APN 16 59,104,478 (GRCm39) nonsense probably null
IGL03075:Or5ac20 APN 16 59,104,291 (GRCm39) missense possibly damaging 0.87
IGL03186:Or5ac20 APN 16 59,104,266 (GRCm39) missense probably damaging 0.98
R0270:Or5ac20 UTSW 16 59,104,116 (GRCm39) missense probably damaging 1.00
R0631:Or5ac20 UTSW 16 59,104,570 (GRCm39) missense possibly damaging 0.60
R1441:Or5ac20 UTSW 16 59,104,228 (GRCm39) missense probably benign 0.00
R1546:Or5ac20 UTSW 16 59,104,366 (GRCm39) missense probably damaging 1.00
R3403:Or5ac20 UTSW 16 59,104,475 (GRCm39) missense probably benign 0.09
R4790:Or5ac20 UTSW 16 59,104,821 (GRCm39) missense probably damaging 0.99
R4960:Or5ac20 UTSW 16 59,104,348 (GRCm39) missense probably benign 0.23
R5369:Or5ac20 UTSW 16 59,104,743 (GRCm39) missense probably damaging 0.97
R5419:Or5ac20 UTSW 16 59,104,704 (GRCm39) missense probably damaging 0.99
R5646:Or5ac20 UTSW 16 59,104,342 (GRCm39) missense probably benign 0.00
R6732:Or5ac20 UTSW 16 59,104,314 (GRCm39) missense probably benign 0.16
R6994:Or5ac20 UTSW 16 59,104,453 (GRCm39) missense possibly damaging 0.87
R7265:Or5ac20 UTSW 16 59,104,287 (GRCm39) missense probably damaging 1.00
R7956:Or5ac20 UTSW 16 59,104,856 (GRCm39) start codon destroyed probably null 0.20
R8074:Or5ac20 UTSW 16 59,104,549 (GRCm39) missense probably benign 0.22
R8082:Or5ac20 UTSW 16 59,104,750 (GRCm39) missense possibly damaging 0.64
R8769:Or5ac20 UTSW 16 59,104,194 (GRCm39) missense probably damaging 1.00
R8896:Or5ac20 UTSW 16 59,104,452 (GRCm39) missense probably damaging 1.00
R8923:Or5ac20 UTSW 16 59,104,399 (GRCm39) missense probably benign 0.19
Z1177:Or5ac20 UTSW 16 59,104,293 (GRCm39) missense probably damaging 1.00
Z1177:Or5ac20 UTSW 16 59,104,071 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- AGGTGGAGAAGGCTTTGCTC -3'
(R):5'- AGTGCAACCACAGAATGTTTCCTC -3'

Sequencing Primer
(F):5'- AGAAGGCTTTGCTCCTGCC -3'
(R):5'- CCTGCTAGTGATGGCCTATGAC -3'
Posted On 2017-07-14