Incidental Mutation 'IGL01457:Or51s1'
ID 84849
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51s1
Ensembl Gene ENSMUSG00000043310
Gene Name olfactory receptor family 51 subfamily S member 1
Synonyms Olfr571, MOR21-1, GA_x6K02T2PBJ9-5620890-5619922
Accession Numbers
Essential gene? Probably non essential (E-score: 0.227) question?
Stock # IGL01457
Quality Score
Status
Chromosome 7
Chromosomal Location 102558076-102559044 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102558926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 40 (I40T)
Ref Sequence ENSEMBL: ENSMUSP00000148964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061738] [ENSMUST00000214160] [ENSMUST00000215773]
AlphaFold E9Q407
Predicted Effect possibly damaging
Transcript: ENSMUST00000061738
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000062385
Gene: ENSMUSG00000043310
AA Change: I40T

DomainStartEndE-ValueType
Pfam:7tm_4 39 318 8.9e-91 PFAM
Pfam:7TM_GPCR_Srsx 43 177 3.1e-8 PFAM
Pfam:7tm_1 49 299 1.6e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214160
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215773
AA Change: I40T

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,382,908 (GRCm39) Y1019F probably benign Het
4930455H04Rik T G 3: 116,762,200 (GRCm39) probably benign Het
9830107B12Rik A T 17: 48,439,193 (GRCm39) probably benign Het
Abcc8 A G 7: 45,784,917 (GRCm39) V737A possibly damaging Het
Adamts20 T A 15: 94,229,329 (GRCm39) Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 (GRCm39) F365I probably damaging Het
App G A 16: 84,900,127 (GRCm39) H108Y probably damaging Het
Bfsp1 T C 2: 143,669,564 (GRCm39) probably benign Het
Bltp3b T C 10: 89,641,624 (GRCm39) S932P probably benign Het
Cabin1 T C 10: 75,578,263 (GRCm39) N478S probably damaging Het
Camsap3 G A 8: 3,654,795 (GRCm39) V796I probably damaging Het
Carns1 A T 19: 4,216,498 (GRCm39) probably null Het
Ccdc121 A T 5: 31,644,771 (GRCm39) I175L probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cltc C T 11: 86,593,074 (GRCm39) M1600I probably benign Het
Cnot1 T A 8: 96,467,637 (GRCm39) N1499Y probably damaging Het
Crebbp T A 16: 3,942,632 (GRCm39) I196L probably damaging Het
Drc3 C A 11: 60,249,475 (GRCm39) probably benign Het
Fam161a T A 11: 22,970,702 (GRCm39) Y234* probably null Het
Il1r1 C A 1: 40,352,330 (GRCm39) P500Q probably damaging Het
Katnal1 G T 5: 148,830,607 (GRCm39) probably benign Het
Klhdc2 A G 12: 69,343,827 (GRCm39) N20S probably benign Het
Kmt2e A T 5: 23,707,017 (GRCm39) T1527S possibly damaging Het
Magi1 C T 6: 93,724,205 (GRCm39) G270D probably damaging Het
Mdn1 T A 4: 32,715,922 (GRCm39) S2035T possibly damaging Het
Mki67 A T 7: 135,301,275 (GRCm39) M1253K probably benign Het
Myh7 T C 14: 55,226,336 (GRCm39) M435V possibly damaging Het
Myh8 A G 11: 67,183,505 (GRCm39) I739V probably benign Het
Npnt T C 3: 132,591,743 (GRCm39) K430R probably damaging Het
Nrdc A G 4: 108,904,857 (GRCm39) N696S probably benign Het
Oit3 T C 10: 59,261,306 (GRCm39) probably benign Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5bw2 A G 7: 6,573,211 (GRCm39) T74A probably benign Het
Or5p6 A T 7: 107,631,328 (GRCm39) I74K possibly damaging Het
Pkd1 G A 17: 24,813,795 (GRCm39) probably null Het
Plat A G 8: 23,266,844 (GRCm39) M279V probably benign Het
Prkd1 A T 12: 50,439,693 (GRCm39) L378* probably null Het
Rasgef1a C T 6: 118,061,506 (GRCm39) T157I probably benign Het
Rbm22 A G 18: 60,693,929 (GRCm39) N11S probably damaging Het
Ros1 T C 10: 51,922,426 (GRCm39) probably benign Het
Sema6d T A 2: 124,495,562 (GRCm39) F3Y unknown Het
Sis T C 3: 72,868,354 (GRCm39) D112G probably benign Het
Slit1 C A 19: 41,599,483 (GRCm39) G1023C probably damaging Het
Spata31h1 C A 10: 82,120,568 (GRCm39) K4147N probably damaging Het
Sptb T C 12: 76,659,329 (GRCm39) probably benign Het
Sspo T C 6: 48,475,277 (GRCm39) I4881T probably benign Het
Supt6 C A 11: 78,111,969 (GRCm39) D1038Y probably damaging Het
Tbc1d2b A T 9: 90,087,144 (GRCm39) L945Q probably damaging Het
Tgfbr3 G T 5: 107,297,764 (GRCm39) A212E probably damaging Het
Tipin A G 9: 64,211,690 (GRCm39) T259A probably benign Het
Traip T C 9: 107,847,671 (GRCm39) S365P probably benign Het
Tst T C 15: 78,283,967 (GRCm39) T287A probably benign Het
Tube1 C T 10: 39,021,718 (GRCm39) probably benign Het
Vmn1r37 T A 6: 66,708,393 (GRCm39) N6K probably damaging Het
Vmn2r111 C A 17: 22,790,966 (GRCm39) E111* probably null Het
Vmn2r17 C T 5: 109,600,898 (GRCm39) T732I probably benign Het
Vmn2r69 A T 7: 85,055,836 (GRCm39) D767E possibly damaging Het
Other mutations in Or51s1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00236:Or51s1 APN 7 102,558,479 (GRCm39) missense probably damaging 1.00
IGL01962:Or51s1 APN 7 102,559,054 (GRCm39) utr 5 prime probably benign
IGL02110:Or51s1 APN 7 102,558,402 (GRCm39) missense probably benign 0.13
R0306:Or51s1 UTSW 7 102,559,010 (GRCm39) missense probably benign
R0790:Or51s1 UTSW 7 102,558,843 (GRCm39) missense probably benign 0.02
R3791:Or51s1 UTSW 7 102,558,239 (GRCm39) missense probably benign 0.14
R6461:Or51s1 UTSW 7 102,558,235 (GRCm39) missense possibly damaging 0.62
R6793:Or51s1 UTSW 7 102,558,935 (GRCm39) missense probably benign 0.00
R8327:Or51s1 UTSW 7 102,558,926 (GRCm39) missense probably damaging 0.98
R8860:Or51s1 UTSW 7 102,558,336 (GRCm39) missense probably benign 0.19
R9532:Or51s1 UTSW 7 102,558,746 (GRCm39) missense probably benign 0.02
Posted On 2013-11-11