Incidental Mutation 'R2907:Or5an1b'
ID 261718
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 040494-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R2907 (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 12300032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 53 (D53G)
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: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000056003
Gene: ENSMUSG00000096436
AA Change: D53G

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: D53G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.5615 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 97% (37/38)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,559 (GRCm39) E385G probably damaging Het
Adam32 A T 8: 25,353,520 (GRCm39) W690R probably damaging Het
Ap1b1 T A 11: 4,981,641 (GRCm39) N516K probably damaging Het
Arap3 G A 18: 38,123,580 (GRCm39) P452L possibly damaging Het
Armcx6 A T X: 133,650,199 (GRCm39) C211S probably damaging Het
Asns A G 6: 7,675,506 (GRCm39) S499P probably benign Het
Aspn G T 13: 49,705,374 (GRCm39) V79F probably damaging Het
Astn2 A G 4: 65,563,093 (GRCm39) I844T possibly damaging Het
Asxl3 A T 18: 22,650,330 (GRCm39) H773L possibly damaging Het
Atp7b G A 8: 22,501,570 (GRCm39) T781I probably damaging Het
Bcl6 G A 16: 23,786,869 (GRCm39) R641W probably damaging Het
Csmd3 T A 15: 47,874,449 (GRCm39) I612F probably damaging Het
Dnm1l A T 16: 16,132,175 (GRCm39) S666T probably damaging Het
Gucy2c A T 6: 136,685,385 (GRCm39) V852E probably damaging Het
H2-T3 G A 17: 36,498,347 (GRCm39) R233C possibly damaging Het
Igfbp4 A G 11: 98,932,377 (GRCm39) probably benign Het
Igkv16-104 T C 6: 68,402,911 (GRCm39) I68T probably damaging Het
Kansl1 T A 11: 104,315,286 (GRCm39) S251C possibly damaging Het
Kcnk1 G T 8: 126,722,538 (GRCm39) V114L probably benign Het
Klra3 G T 6: 130,310,302 (GRCm39) Q73K probably damaging Het
Mcpt1 T C 14: 56,257,580 (GRCm39) V242A probably damaging Het
Nek10 C A 14: 14,980,613 (GRCm38) Q990K possibly damaging Het
Nlrp4d A T 7: 10,112,354 (GRCm39) V605E probably benign Het
Or10w1 C T 19: 13,632,611 (GRCm39) P268S possibly damaging Het
Or5d46 T C 2: 88,170,827 (GRCm39) I306T probably benign Het
Osbpl1a A G 18: 13,004,129 (GRCm39) probably benign Het
Otud4 T A 8: 80,399,697 (GRCm39) S803T probably benign Het
Pax9 C T 12: 56,756,529 (GRCm39) T289I probably benign Het
Pcdha5 A C 18: 37,093,868 (GRCm39) I126L possibly damaging Het
Psmd4 G T 3: 94,941,273 (GRCm39) A55E probably damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rbm26 T A 14: 105,380,270 (GRCm39) T516S probably benign Het
Sdr42e1 G A 8: 118,389,511 (GRCm39) L377F probably damaging Het
Setdb1 T C 3: 95,234,512 (GRCm39) probably benign Het
Uba3 T C 6: 97,180,514 (GRCm39) E21G probably benign Het
Uggt2 C T 14: 119,256,919 (GRCm39) S1105N probably benign Het
Zfp113 T C 5: 138,143,219 (GRCm39) N344D probably benign Het
Zfp738 T C 13: 67,818,231 (GRCm39) I587V 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
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
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'- ACAAATGGCAGCATACCTGTC -3'
(R):5'- TCCCCAGTACTAACTAGGATTACC -3'

Sequencing Primer
(F):5'- GCTGTCATGAGGCAAGATTCACTC -3'
(R):5'- AGTACTAACTAGGATTACCAAGGC -3'
Posted On 2015-01-23