Incidental Mutation 'R5250:Or5an1b'
ID 399002
Institutional Source Beutler Lab
Gene Symbol Or5an1b
Ensembl Gene ENSMUSG00000096436
Gene Name olfactory receptor family 5 subfamily AN member 1B
Synonyms MOR214-6, Olfr1437, GA_x6K02T2RE5P-2658227-2657289
MMRRC Submission 042821-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5250 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 12299251-12302430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12299430 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 254 (T254A)
Ref Sequence ENSEMBL: ENSMUSP00000146333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052558] [ENSMUST00000207241]
AlphaFold Q7TQR7
Predicted Effect probably benign
Transcript: ENSMUST00000052558
AA Change: T254A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000056003
Gene: ENSMUSG00000096436
AA Change: T254A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 6.7e-55 PFAM
Pfam:7tm_1 42 291 5.6e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207241
AA Change: T254A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Meta Mutation Damage Score 0.3530 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 100% (60/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,135,182 (GRCm39) K236* probably null Het
Adgre5 A G 8: 84,460,069 (GRCm39) V109A probably benign Het
Adora2a T C 10: 75,161,882 (GRCm39) I7T probably damaging Het
Ankrd6 A G 4: 32,860,335 (GRCm39) V36A probably damaging Het
Arhgef2 T C 3: 88,540,955 (GRCm39) probably null Het
Atg14 G A 14: 47,805,656 (GRCm39) R70C probably damaging Het
Atg2b G A 12: 105,602,024 (GRCm39) R1651W probably damaging Het
Atp6v0a1 T A 11: 100,933,870 (GRCm39) V553D possibly damaging Het
Bard1 G A 1: 71,113,722 (GRCm39) L420F probably damaging Het
Bcat1 C G 6: 144,993,165 (GRCm39) probably null Het
Bpifb5 A T 2: 154,066,881 (GRCm39) N45Y probably benign Het
Btbd17 G T 11: 114,682,234 (GRCm39) probably benign Het
Ccdc24 T C 4: 117,726,826 (GRCm39) T296A possibly damaging Het
Col11a1 A G 3: 114,010,819 (GRCm39) probably benign Het
Cspg4b A G 13: 113,456,305 (GRCm39) N784D possibly damaging Het
Dhx38 A T 8: 110,283,152 (GRCm39) V555D probably damaging Het
Dixdc1 T G 9: 50,595,035 (GRCm39) E230A possibly damaging Het
Dnah7b T G 1: 46,412,514 (GRCm39) V4041G probably damaging Het
Dnhd1 A T 7: 105,334,968 (GRCm39) I1021L probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Flt4 T A 11: 49,521,227 (GRCm39) I412N possibly damaging Het
Gabrb1 A G 5: 72,026,922 (GRCm39) I141V possibly damaging Het
Gpc2 A G 5: 138,277,230 (GRCm39) Y66H probably damaging Het
Hoxd3 C T 2: 74,574,650 (GRCm39) Q99* probably null Het
Inpp5d T C 1: 87,637,397 (GRCm39) V781A probably damaging Het
Larp4b T C 13: 9,221,013 (GRCm39) probably benign Het
Lrrfip1 T A 1: 91,043,618 (GRCm39) S674R possibly damaging Het
Megf6 A G 4: 154,340,467 (GRCm39) T561A possibly damaging Het
Mpo A T 11: 87,694,259 (GRCm39) Q83L probably benign Het
Mucl2 T C 15: 103,927,733 (GRCm39) N75D possibly damaging Het
Myh13 C T 11: 67,218,085 (GRCm39) Q53* probably null Het
Myot T A 18: 44,479,137 (GRCm39) D291E probably damaging Het
Nae1 A G 8: 105,257,023 (GRCm39) probably null Het
Ncoa2 A T 1: 13,294,913 (GRCm39) S2R probably damaging Het
Nktr T A 9: 121,578,858 (GRCm39) probably benign Het
Nrxn1 A G 17: 90,842,869 (GRCm39) probably benign Het
Or10aa3 T G 1: 173,878,838 (GRCm39) F300V probably benign Het
Or14j4 A G 17: 37,920,851 (GRCm39) S264P probably damaging Het
P2rx2 T C 5: 110,489,454 (GRCm39) E160G probably damaging Het
Pcdhga11 A T 18: 37,890,990 (GRCm39) D666V probably damaging Het
Pcm1 A T 8: 41,765,242 (GRCm39) E1484D probably damaging Het
Pdia4 C T 6: 47,773,619 (GRCm39) A577T possibly damaging Het
Potefam1 T G 2: 111,058,422 (GRCm39) T124P possibly damaging Het
Ppm1e T C 11: 87,121,744 (GRCm39) I738V probably benign Het
Ppp1r13b G T 12: 111,811,394 (GRCm39) R165S probably benign Het
Rasgrp2 T C 19: 6,454,343 (GRCm39) W129R probably damaging Het
Smurf2 A G 11: 106,747,005 (GRCm39) probably null Het
Spmap1 C A 11: 97,663,553 (GRCm39) W99L possibly damaging Het
Ubr2 G T 17: 47,241,368 (GRCm39) Q1729K probably benign Het
Zfp260 T A 7: 29,804,392 (GRCm39) H97Q probably damaging Het
Zfp429 G T 13: 67,538,638 (GRCm39) R269S probably benign Het
Zfp568 T C 7: 29,716,655 (GRCm39) V185A probably benign Het
Other mutations in Or5an1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03034:Or5an1b APN 19 12,300,018 (GRCm39) missense possibly damaging 0.79
R0319:Or5an1b UTSW 19 12,299,680 (GRCm39) nonsense probably null
R1603:Or5an1b UTSW 19 12,299,348 (GRCm39) missense probably damaging 0.99
R2175:Or5an1b UTSW 19 12,299,885 (GRCm39) missense probably damaging 0.97
R2907:Or5an1b UTSW 19 12,300,032 (GRCm39) missense probably damaging 1.00
R5390:Or5an1b UTSW 19 12,299,505 (GRCm39) missense probably damaging 0.98
R6949:Or5an1b UTSW 19 12,299,792 (GRCm39) missense probably damaging 1.00
R7437:Or5an1b UTSW 19 12,299,472 (GRCm39) missense probably damaging 0.99
R7652:Or5an1b UTSW 19 12,299,651 (GRCm39) missense probably damaging 1.00
R7699:Or5an1b UTSW 19 12,299,841 (GRCm39) missense probably benign 0.09
R7986:Or5an1b UTSW 19 12,300,102 (GRCm39) missense probably benign 0.01
R9221:Or5an1b UTSW 19 12,299,336 (GRCm39) missense probably damaging 1.00
Z1176:Or5an1b UTSW 19 12,299,631 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- TTATTAGCAGCATCCCAGCTTC -3'
(R):5'- CATGCCCCAGCTGTTAAATC -3'

Sequencing Primer
(F):5'- AGCAGCATCCCAGCTTCTTCTG -3'
(R):5'- AGCTGTTAAATCTATCCTGCACTGAC -3'
Posted On 2016-07-06