Incidental Mutation 'IGL03034:Or5an1b'
ID 408575
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5an1b
Ensembl Gene ENSMUSG00000096436
Gene Name olfactory receptor family 5 subfamily AN member 1B
Synonyms MOR214-6, Olfr1437, GA_x6K02T2RE5P-2658227-2657289
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL03034
Quality Score
Status
Chromosome 19
Chromosomal Location 12299251-12302430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12300018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 58 (T58A)
Ref Sequence ENSEMBL: ENSMUSP00000146333 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052558] [ENSMUST00000207241]
AlphaFold Q7TQR7
Predicted Effect possibly damaging
Transcript: ENSMUST00000052558
AA Change: T58A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000056003
Gene: ENSMUSG00000096436
AA Change: T58A

DomainStartEndE-ValueType
Pfam:7tm_4 32 308 6.7e-55 PFAM
Pfam:7tm_1 42 291 5.6e-18 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000207241
AA Change: T58A

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5530401A14Rik C T 11: 81,780,908 (GRCm39) probably benign Het
Ablim2 A G 5: 35,985,509 (GRCm39) T269A probably benign Het
Asgr2 G T 11: 69,989,089 (GRCm39) G178W probably damaging Het
Chtf18 A G 17: 25,946,320 (GRCm39) probably benign Het
Cnmd C T 14: 79,879,368 (GRCm39) A257T probably benign Het
Cox7a1 A G 7: 29,884,693 (GRCm39) probably benign Het
Cpox C T 16: 58,495,718 (GRCm39) T345M probably damaging Het
Crisp1 T C 17: 40,618,619 (GRCm39) T81A probably benign Het
Dcc T A 18: 71,708,214 (GRCm39) R501* probably null Het
Dlx6 A C 6: 6,863,807 (GRCm39) Q143P probably benign Het
Dpp10 T A 1: 123,269,348 (GRCm39) Y687F probably damaging Het
Eif2b1 A G 5: 124,709,894 (GRCm39) V228A probably benign Het
Enpep T C 3: 129,092,599 (GRCm39) D528G probably damaging Het
Fbxo6 G A 4: 148,230,579 (GRCm39) Q228* probably null Het
Iars1 T A 13: 49,843,965 (GRCm39) N146K possibly damaging Het
Kctd9 T A 14: 67,971,728 (GRCm39) S268T probably benign Het
Kifap3 G A 1: 163,715,846 (GRCm39) V749M probably benign Het
Mdm4 T C 1: 132,938,809 (GRCm39) D94G probably damaging Het
Mllt10 T G 2: 18,069,847 (GRCm39) M1R probably null Het
Mtcl1 T C 17: 66,651,193 (GRCm39) Y1424C probably damaging Het
Mybpc2 A T 7: 44,161,321 (GRCm39) I549N possibly damaging Het
Myocd T C 11: 65,109,511 (GRCm39) T87A probably benign Het
Nr3c2 T G 8: 77,914,267 (GRCm39) Y824* probably null Het
Omg T A 11: 79,392,947 (GRCm39) T304S possibly damaging Het
Or4b1 A G 2: 89,980,177 (GRCm39) Y58H probably damaging Het
Or52p2 G A 7: 102,237,147 (GRCm39) H268Y probably benign Het
Or5b97 T C 19: 12,879,121 (GRCm39) T8A possibly damaging Het
Or6c2 A T 10: 129,362,527 (GRCm39) I144F probably benign Het
Pde3a G A 6: 141,438,126 (GRCm39) probably benign Het
Phf20l1 A G 15: 66,469,252 (GRCm39) K129E probably damaging Het
Phka2 G T X: 159,360,546 (GRCm39) E858* probably null Het
Pp2d1 T C 17: 53,815,081 (GRCm39) T548A possibly damaging Het
Prr14l G A 5: 32,984,782 (GRCm39) A1571V possibly damaging Het
Rbms3 A G 9: 117,080,879 (GRCm39) probably benign Het
Sparcl1 T C 5: 104,241,103 (GRCm39) E107G probably damaging Het
Stra6l A G 4: 45,885,392 (GRCm39) D620G probably benign Het
Traf3ip2 A T 10: 39,502,215 (GRCm39) K121I probably damaging Het
Ttc34 T C 4: 154,945,640 (GRCm39) S734P probably damaging Het
Zfp953 C T 13: 67,491,526 (GRCm39) C142Y probably damaging Het
Zfp955b T A 17: 33,521,142 (GRCm39) C204S probably benign Het
Other mutations in Or5an1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2016-08-02