Incidental Mutation 'R6911:Or5as1'
ID 539004
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 045003-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.371) question?
Stock # R6911 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86980064-86981003 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86980111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 298 (K298I)
Ref Sequence ENSEMBL: ENSMUSP00000150760 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099860] [ENSMUST00000214492] [ENSMUST00000216378]
AlphaFold Q7TR55
Predicted Effect probably damaging
Transcript: ENSMUST00000099860
AA Change: K298I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097446
Gene: ENSMUSG00000075158
AA Change: K298I

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 2.2e-54 PFAM
Pfam:7tm_1 41 290 7e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214492
AA Change: K298I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216378
AA Change: K298I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7185 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,948,068 (GRCm39) M655K probably benign Het
Adam34l A T 8: 44,078,146 (GRCm39) F693I probably benign Het
Amt G T 9: 108,178,428 (GRCm39) probably null Het
Anapc7 A T 5: 122,578,343 (GRCm39) K443* probably null Het
Apcs A G 1: 172,721,752 (GRCm39) V198A probably benign Het
Atp2a1 A G 7: 126,056,008 (GRCm39) V271A probably damaging Het
Bltp2 T A 11: 78,159,179 (GRCm39) I459N probably damaging Het
Cdh20 T C 1: 104,912,411 (GRCm39) I555T possibly damaging Het
Cgnl1 T C 9: 71,563,497 (GRCm39) E810G possibly damaging Het
Cntnap5c A G 17: 58,199,009 (GRCm39) D101G probably damaging Het
Coq7 T A 7: 118,109,385 (GRCm39) H221L unknown Het
Depdc5 A T 5: 33,081,536 (GRCm39) Q566L probably damaging Het
Dync1i2 G A 2: 71,077,446 (GRCm39) V233I probably benign Het
Erp44 G T 4: 48,204,268 (GRCm39) H298N probably benign Het
Fam162a A G 16: 35,866,747 (GRCm39) probably null Het
Fancd2 A G 6: 113,525,346 (GRCm39) E274G probably damaging Het
Fkbp15 G T 4: 62,258,527 (GRCm39) Q147K probably damaging Het
Ganab T A 19: 8,885,152 (GRCm39) probably null Het
Gfm1 T C 3: 67,358,636 (GRCm39) V409A possibly damaging Het
Gnptab G A 10: 88,267,258 (GRCm39) G450S probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grid1 A T 14: 34,542,185 (GRCm39) M1L probably benign Het
Helz C T 11: 107,510,051 (GRCm39) T558I probably benign Het
Htra4 A G 8: 25,515,721 (GRCm39) V439A probably damaging Het
Kctd17 A G 15: 78,318,206 (GRCm39) E95G probably damaging Het
Kif18b T C 11: 102,807,206 (GRCm39) D43G probably damaging Het
Lrpprc G A 17: 85,063,711 (GRCm39) S550L possibly damaging Het
Lrrfip1 T A 1: 91,042,529 (GRCm39) C311* probably null Het
Mcoln2 C T 3: 145,898,011 (GRCm39) T44I probably damaging Het
Med13l A G 5: 118,893,723 (GRCm39) T2010A possibly damaging Het
Med23 C T 10: 24,778,079 (GRCm39) T803M probably damaging Het
Mfsd13a T C 19: 46,357,716 (GRCm39) F290S probably damaging Het
Myh13 C T 11: 67,245,753 (GRCm39) Q1095* probably null Het
Nktr C A 9: 121,583,392 (GRCm39) Y93* probably null Het
Nox3 A G 17: 3,736,198 (GRCm39) S143P probably damaging Het
Ntrk2 A T 13: 59,007,029 (GRCm39) E210D probably damaging Het
Nup210 G T 6: 91,007,112 (GRCm39) A568E probably damaging Het
Or10ak9 T A 4: 118,726,335 (GRCm39) M119K probably damaging Het
Or2y1g A G 11: 49,171,634 (GRCm39) I220V probably benign Het
Or4g16 A G 2: 111,136,618 (GRCm39) T23A probably benign Het
Pdlim5 T C 3: 142,010,076 (GRCm39) I289V probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Per1 C T 11: 68,994,083 (GRCm39) T443M probably damaging Het
Plxna1 A G 6: 89,297,956 (GRCm39) V1774A probably damaging Het
Poteg A G 8: 27,940,326 (GRCm39) Y165C probably damaging Het
Prlr A G 15: 10,329,270 (GRCm39) T582A probably benign Het
Psma5 A G 3: 108,172,464 (GRCm39) E60G probably damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 T C 13: 11,842,445 (GRCm39) N484S possibly damaging Het
Sec31a A G 5: 100,541,123 (GRCm39) I328T possibly damaging Het
Slc12a2 G T 18: 58,052,541 (GRCm39) V787L probably benign Het
St14 C T 9: 31,018,081 (GRCm39) R177Q probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tom1l1 G T 11: 90,534,987 (GRCm39) probably null Het
Ttf1 A G 2: 28,954,863 (GRCm39) R76G probably benign Het
Ube4a C T 9: 44,854,056 (GRCm39) E581K probably damaging Het
Vmn2r114 A G 17: 23,510,104 (GRCm39) V792A probably damaging Het
Wdr11 T C 7: 129,208,819 (GRCm39) I430T probably benign Het
Xkr4 T C 1: 3,741,544 (GRCm39) K10E possibly damaging Het
Zfp451 T C 1: 33,842,537 (GRCm39) probably benign 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
R1717:Or5as1 UTSW 2 86,980,150 (GRCm39) nonsense probably null
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
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'- CACTTATCATTGTCTGTGTATCTGG -3'
(R):5'- TGTTTTGAGCATCAAGTCCACAGG -3'

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