Incidental Mutation 'R1717:Or5as1'
ID 191090
Institutional Source Beutler Lab
Gene Symbol Or5as1
Ensembl Gene ENSMUSG00000075158
Gene Name olfactory receptor family 5 subfamily AS member 1
Synonyms Olfr1111, MOR181-2, GA_x6K02T2Q125-48635468-48634530
MMRRC Submission 039750-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # R1717 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 86980064-86981003 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 86980150 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 285 (L285*)
Ref Sequence ENSEMBL: ENSMUSP00000150760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099860] [ENSMUST00000214492] [ENSMUST00000216378]
AlphaFold Q7TR55
Predicted Effect probably null
Transcript: ENSMUST00000099860
AA Change: L285*
SMART Domains Protein: ENSMUSP00000097446
Gene: ENSMUSG00000075158
AA Change: L285*

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-54 PFAM
Pfam:7tm_1 41 290 7e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214492
AA Change: L285*
Predicted Effect probably null
Transcript: ENSMUST00000216378
AA Change: L285*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 98% (81/83)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4732465J04Rik GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT 10: 95,629,641 (GRCm39) probably null Het
4930583I09Rik T C 17: 65,141,444 (GRCm39) N53S unknown Het
4933434E20Rik T A 3: 89,963,544 (GRCm39) S67T probably benign Het
Abcc8 T C 7: 45,765,239 (GRCm39) I1127V possibly damaging Het
Abcg3 G A 5: 105,111,421 (GRCm39) Q349* probably null Het
Adam2 A G 14: 66,306,007 (GRCm39) L158P probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Agrp G T 8: 106,293,467 (GRCm39) T106K probably damaging Het
Akap11 C A 14: 78,750,788 (GRCm39) S533I probably benign Het
Aldh1a2 A T 9: 71,200,953 (GRCm39) N517I probably damaging Het
Aldh4a1 A T 4: 139,365,840 (GRCm39) H277L possibly damaging Het
Aldh4a1 G A 4: 139,361,305 (GRCm39) probably null Het
Ankrd27 A G 7: 35,327,871 (GRCm39) D742G possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arhgef7 C A 8: 11,858,712 (GRCm39) probably benign Het
Arhgef7 C A 8: 11,858,713 (GRCm39) probably null Het
Armh4 T C 14: 49,989,121 (GRCm39) D616G probably damaging Het
Arvcf A G 16: 18,220,319 (GRCm39) K568E possibly damaging Het
Atp8b3 G A 10: 80,364,631 (GRCm39) R521W probably damaging Het
Casp16 A G 17: 23,771,024 (GRCm39) I127T possibly damaging Het
Cd163 A G 6: 124,306,547 (GRCm39) probably benign Het
Cdh8 A T 8: 99,757,337 (GRCm39) S754T probably damaging Het
Cel A G 2: 28,446,789 (GRCm39) Y461H probably damaging Het
Chmp4b A G 2: 154,499,240 (GRCm39) I47V possibly damaging Het
Col1a1 A G 11: 94,839,218 (GRCm39) M989V unknown Het
Cpsf1 A T 15: 76,486,766 (GRCm39) S257T possibly damaging Het
Csmd1 A T 8: 17,266,708 (GRCm39) S73T possibly damaging Het
Csnk2a2 T C 8: 96,182,436 (GRCm39) probably null Het
Dact2 A T 17: 14,418,175 (GRCm39) W177R probably benign Het
Ddx10 A G 9: 53,071,253 (GRCm39) V680A probably benign Het
Eif5 T A 12: 111,508,651 (GRCm39) D215E probably benign Het
Evpl C T 11: 116,116,318 (GRCm39) A817T probably benign Het
Fmo6 T A 1: 162,753,821 (GRCm39) R131* probably null Het
Fsd2 T C 7: 81,184,857 (GRCm39) T680A probably benign Het
Fsip2 T C 2: 82,805,289 (GRCm39) V536A possibly damaging Het
Fzd8 T C 18: 9,214,364 (GRCm39) F482S probably damaging Het
Gabrb1 A T 5: 72,265,694 (GRCm39) probably null Het
Galnt9 T G 5: 110,744,078 (GRCm39) I304S probably benign Het
Glra3 G T 8: 56,393,942 (GRCm39) A18S probably benign Het
Gm5334 A C 7: 68,268,725 (GRCm39) noncoding transcript Het
Grcc10 A T 6: 124,717,476 (GRCm39) probably benign Het
Hmcn1 T C 1: 150,734,937 (GRCm39) T192A probably damaging Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irgm2 T A 11: 58,111,461 (GRCm39) L396Q probably damaging Het
Ksr2 T A 5: 117,809,514 (GRCm39) C426S probably damaging Het
Lair1 A G 7: 4,013,788 (GRCm39) F153S probably damaging Het
Lrp1 T C 10: 127,392,138 (GRCm39) H2835R possibly damaging Het
Lrp1 T C 10: 127,399,534 (GRCm39) T2325A probably damaging Het
Lrrd1 T C 5: 3,900,580 (GRCm39) F295S probably damaging Het
Meis1 T A 11: 18,960,608 (GRCm39) probably benign Het
Mkln1 T A 6: 31,484,579 (GRCm39) I156K probably benign Het
Mmd2 T C 5: 142,561,105 (GRCm39) probably benign Het
Morc1 A G 16: 48,272,840 (GRCm39) I156V probably benign Het
Muc4 A G 16: 32,753,405 (GRCm38) T1094A possibly damaging Het
Nckap1 A G 2: 80,343,014 (GRCm39) probably benign Het
Neb A G 2: 52,198,759 (GRCm39) I394T possibly damaging Het
Or12e1 A T 2: 87,022,247 (GRCm39) N72I probably benign Het
Or2t49 T A 11: 58,392,885 (GRCm39) M166L probably benign Het
Or4e2 T C 14: 52,688,296 (GRCm39) V142A probably benign Het
Or8d1b C T 9: 38,887,706 (GRCm39) L245F probably damaging Het
Pcdha1 T C 18: 37,065,237 (GRCm39) S634P probably benign Het
Pcdhb12 T A 18: 37,569,841 (GRCm39) V329E probably damaging Het
Pcf11 A T 7: 92,312,793 (GRCm39) D193E probably benign Het
Pcsk1 G C 13: 75,258,947 (GRCm39) M240I probably damaging Het
Pdc T A 1: 150,208,892 (GRCm39) I125N probably damaging Het
Plch2 C T 4: 155,082,729 (GRCm39) G564S probably benign Het
Rasgrf1 G T 9: 89,835,966 (GRCm39) Q231H probably damaging Het
Riok1 T A 13: 38,236,926 (GRCm39) I389N probably damaging Het
Ror1 T A 4: 100,160,135 (GRCm39) S50R probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Siglec1 G A 2: 130,915,876 (GRCm39) H1329Y possibly damaging Het
Siglec1 T C 2: 130,925,932 (GRCm39) N258S probably damaging Het
Slbp G A 5: 33,802,946 (GRCm39) A126V probably benign Het
Slc12a4 A T 8: 106,674,203 (GRCm39) probably null Het
Specc1 A G 11: 62,019,218 (GRCm39) I686V possibly damaging Het
Synpo2 C A 3: 122,906,203 (GRCm39) V1038F probably damaging Het
Tbk1 G A 10: 121,397,550 (GRCm39) T374I probably benign Het
Tktl2 G A 8: 66,964,999 (GRCm39) V186M probably damaging Het
Tmem190 T C 7: 4,787,132 (GRCm39) L112P probably damaging Het
Tsc2 C T 17: 24,816,042 (GRCm39) R1715Q probably damaging Het
Ulbp3 A T 10: 3,075,050 (GRCm39) noncoding transcript Het
Vmn1r46 T C 6: 89,953,811 (GRCm39) L220P probably damaging Het
Vwa3a A G 7: 120,392,609 (GRCm39) Q816R probably benign Het
Zfhx4 T C 3: 5,468,164 (GRCm39) I2799T probably benign Het
Zfp105 T C 9: 122,759,696 (GRCm39) S456P probably damaging Het
Other mutations in Or5as1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01023:Or5as1 APN 2 86,980,169 (GRCm39) missense possibly damaging 0.53
IGL02217:Or5as1 APN 2 86,980,231 (GRCm39) missense probably benign 0.00
R0789:Or5as1 UTSW 2 86,980,171 (GRCm39) missense probably damaging 1.00
R1437:Or5as1 UTSW 2 86,980,115 (GRCm39) missense possibly damaging 0.94
R1696:Or5as1 UTSW 2 86,980,724 (GRCm39) missense probably benign 0.00
R1700:Or5as1 UTSW 2 86,980,123 (GRCm39) missense probably damaging 1.00
R4965:Or5as1 UTSW 2 86,981,003 (GRCm39) start codon destroyed possibly damaging 0.89
R5221:Or5as1 UTSW 2 86,980,825 (GRCm39) missense probably damaging 1.00
R5297:Or5as1 UTSW 2 86,980,793 (GRCm39) missense probably benign 0.01
R5837:Or5as1 UTSW 2 86,980,699 (GRCm39) missense probably benign 0.02
R6544:Or5as1 UTSW 2 86,980,207 (GRCm39) missense probably damaging 1.00
R6911:Or5as1 UTSW 2 86,980,111 (GRCm39) missense probably damaging 1.00
R8537:Or5as1 UTSW 2 86,980,382 (GRCm39) missense probably benign 0.02
R8969:Or5as1 UTSW 2 86,980,928 (GRCm39) missense probably benign
R9747:Or5as1 UTSW 2 86,980,898 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GGAAAATTCTATGGTGAGTGTTGATGTAGGAG -3'
(R):5'- TCCACAGGAGGCAGGAGCAA -3'

Sequencing Primer
(F):5'- gaagactatgaaaaaagactgttgc -3'
(R):5'- GAGCAAAACATTTTCCACTTGTGC -3'
Posted On 2014-05-14