Incidental Mutation 'R7437:Or5an1b'
ID 576702
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 045513-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7437 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 12299251-12302430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12299472 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 240 (N240D)
Ref Sequence ENSEMBL: ENSMUSP00000146333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052558] [ENSMUST00000207241]
AlphaFold Q7TQR7
Predicted Effect probably damaging
Transcript: ENSMUST00000052558
AA Change: N240D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000056003
Gene: ENSMUSG00000096436
AA Change: N240D

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 6.7e-55 PFAM
Pfam:7tm_1 42 291 5.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000207241
AA Change: N240D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (54/55)
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
Abca3 A T 17: 24,619,472 (GRCm39) I1192F probably damaging Het
Abca8a A G 11: 109,941,790 (GRCm39) S1160P probably benign Het
Adamtsl2 A G 2: 26,979,721 (GRCm39) I297V probably damaging Het
Aebp1 T A 11: 5,819,757 (GRCm39) F687L possibly damaging Het
Ahsa1 A G 12: 87,314,930 (GRCm39) T28A probably damaging Het
Akap3 A T 6: 126,842,618 (GRCm39) K412N probably damaging Het
Atl1 A G 12: 69,978,396 (GRCm39) I123V probably benign Het
Atp10a G A 7: 58,308,288 (GRCm39) R29H unknown Het
C4b T C 17: 34,953,707 (GRCm39) D967G probably benign Het
Ccdc186 T C 19: 56,795,429 (GRCm39) N416S probably damaging Het
Ccna2 T C 3: 36,625,239 (GRCm39) probably benign Het
Cep70 T C 9: 99,173,582 (GRCm39) L371P probably damaging Het
Cfap46 A T 7: 139,230,753 (GRCm39) C958* probably null Het
Crlf2 T C 5: 109,702,839 (GRCm39) D318G probably benign Het
Csf1 T C 3: 107,658,072 (GRCm39) N14D probably benign Het
Dars1 A G 1: 128,299,941 (GRCm39) Y348H possibly damaging Het
Dnah2 T C 11: 69,389,453 (GRCm39) E813G probably damaging Het
Ebi3 T A 17: 56,261,410 (GRCm39) M102K probably benign Het
Epg5 A G 18: 78,066,493 (GRCm39) D2131G probably benign Het
Fam186a A T 15: 99,840,775 (GRCm39) L1823H probably damaging Het
H2-M3 T C 17: 37,583,569 (GRCm39) M309T probably benign Het
Ift122 C T 6: 115,903,263 (GRCm39) R1176C probably benign Het
Ino80 A G 2: 119,273,067 (GRCm39) S470P possibly damaging Het
Kcnh5 C T 12: 75,184,417 (GRCm39) probably null Het
Kif24 T C 4: 41,404,687 (GRCm39) T438A possibly damaging Het
Kndc1 G A 7: 139,488,959 (GRCm39) G205R probably damaging Het
Lrp1b G T 2: 40,712,658 (GRCm39) D3225E Het
Lrp1b A T 2: 40,712,657 (GRCm39) Y3226N Het
Megf10 G C 18: 57,395,203 (GRCm39) G522R probably damaging Het
Nectin2 A T 7: 19,483,193 (GRCm39) L12* probably null Het
Ngef A T 1: 87,408,327 (GRCm39) M580K probably damaging Het
Oga A T 19: 45,767,046 (GRCm39) M110K possibly damaging Het
Or10ag56 A G 2: 87,139,687 (GRCm39) M205V probably benign Het
Or1e1c A G 11: 73,265,844 (GRCm39) S93G probably benign Het
Pcdhb13 T C 18: 37,577,728 (GRCm39) L702P probably damaging Het
Pcdhb17 A G 18: 37,619,145 (GRCm39) I312V probably benign Het
Pglyrp3 A G 3: 91,937,985 (GRCm39) N265D probably benign Het
Pkd1l2 A G 8: 117,757,421 (GRCm39) V1539A probably damaging Het
Prxl2b C A 4: 154,981,053 (GRCm39) C194F possibly damaging Het
Rcn2 T C 9: 55,965,353 (GRCm39) L274P probably damaging Het
Rpp30 A G 19: 36,081,838 (GRCm39) E267G possibly damaging Het
Rundc3a A G 11: 102,289,230 (GRCm39) M134V probably damaging Het
Samd3 A T 10: 26,146,004 (GRCm39) Q343L possibly damaging Het
Serpinb3c A T 1: 107,199,444 (GRCm39) F359Y probably damaging Het
Slc9a9 T C 9: 95,110,994 (GRCm39) L604P probably benign Het
Strn3 A T 12: 51,656,946 (GRCm39) H777Q probably damaging Het
Tap1 G A 17: 34,409,616 (GRCm39) W284* probably null Het
Tlcd5 C T 9: 43,023,080 (GRCm39) W91* probably null Het
Tmem181a A G 17: 6,353,540 (GRCm39) D384G possibly damaging Het
Txndc12 T C 4: 108,713,368 (GRCm39) S77P probably damaging Het
Wnt16 G A 6: 22,288,560 (GRCm39) V19M probably benign Het
Zfp932 T A 5: 110,157,880 (GRCm39) M526K probably benign Het
Zfp959 G T 17: 56,205,334 (GRCm39) C457F probably damaging Het
Zscan4-ps3 T C 7: 11,346,863 (GRCm39) S300P 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
R5250:Or5an1b UTSW 19 12,299,430 (GRCm39) missense probably benign 0.01
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
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'- TATTAGCAGCATCCCAGCTTC -3'
(R):5'- ACATGCCCCAGCTGTTAAATC -3'

Sequencing Primer
(F):5'- AGCAGCATCCCAGCTTCTTCTG -3'
(R):5'- AGCTGTTAAATCTATCCTGCACTGAC -3'
Posted On 2019-10-07