Incidental Mutation 'IGL02712:Or8b57'
ID 304591
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or8b57
Ensembl Gene ENSMUSG00000044205
Gene Name olfactory receptor family 8 subfamily B member 57
Synonyms MOR162-1, GA_x6K02T2PVTD-33790948-33790013, Olfr983
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # IGL02712
Quality Score
Status
Chromosome 9
Chromosomal Location 40003313-40004854 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 40004082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 60 (H60R)
Ref Sequence ENSEMBL: ENSMUSP00000083206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050996] [ENSMUST00000213087] [ENSMUST00000213858] [ENSMUST00000214856] [ENSMUST00000217536]
AlphaFold Q8VG90
Predicted Effect probably damaging
Transcript: ENSMUST00000050996
AA Change: H60R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000083206
Gene: ENSMUSG00000044205
AA Change: H60R

DomainStartEndE-ValueType
Pfam:7tm_4 35 311 2e-48 PFAM
Pfam:7TM_GPCR_Srsx 39 307 3.1e-5 PFAM
Pfam:7tm_1 45 293 1.4e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213087
AA Change: H56R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000213858
Predicted Effect probably benign
Transcript: ENSMUST00000214856
Predicted Effect probably benign
Transcript: ENSMUST00000217536
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
Angel1 A G 12: 86,769,613 (GRCm39) probably benign Het
Arhgef33 T A 17: 80,667,802 (GRCm39) V289D probably damaging Het
Cabp5 A G 7: 13,137,271 (GRCm39) M93V probably damaging Het
Ces1a A C 8: 93,762,668 (GRCm39) V201G probably damaging Het
Cisd1 A G 10: 71,172,181 (GRCm39) F34L probably benign Het
Cyp26a1 T C 19: 37,688,426 (GRCm39) L316P probably damaging Het
Ddx39a A G 8: 84,448,386 (GRCm39) I213V probably benign Het
Ddx59 A T 1: 136,367,519 (GRCm39) N542I probably benign Het
Dytn T C 1: 63,703,581 (GRCm39) T233A probably benign Het
Fbxo7 A G 10: 85,860,302 (GRCm39) T49A possibly damaging Het
Fmnl2 C A 2: 52,926,510 (GRCm39) probably benign Het
Golga2 G T 2: 32,194,225 (GRCm39) K610N probably damaging Het
Hipk4 T C 7: 27,228,060 (GRCm39) Y269H probably damaging Het
Ifi209 T C 1: 173,470,267 (GRCm39) V285A possibly damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Map3k13 T G 16: 21,724,005 (GRCm39) V329G probably damaging Het
Mrm3 T C 11: 76,134,683 (GRCm39) W29R possibly damaging Het
Nherf1 T C 11: 115,068,060 (GRCm39) V200A possibly damaging Het
Nos1ap T C 1: 170,156,820 (GRCm39) I213V possibly damaging Het
Nphp4 C T 4: 152,640,732 (GRCm39) T1033M probably damaging Het
Nr5a2 T C 1: 136,868,266 (GRCm39) probably null Het
Nrcam A G 12: 44,620,610 (GRCm39) Y885C probably damaging Het
Odr4 A G 1: 150,262,107 (GRCm39) probably null Het
Or1e17 T C 11: 73,831,756 (GRCm39) V228A probably benign Het
Ovgp1 T A 3: 105,893,829 (GRCm39) probably benign Het
Pdzd2 T C 15: 12,376,113 (GRCm39) S1341G probably benign Het
Pld2 T G 11: 70,447,905 (GRCm39) L856R probably benign Het
Plod1 A G 4: 148,003,344 (GRCm39) F494L possibly damaging Het
Pnkd T A 1: 74,389,027 (GRCm39) S233T possibly damaging Het
Rnf144b T C 13: 47,393,255 (GRCm39) I198T probably damaging Het
Rsc1a1 G T 4: 141,412,376 (GRCm39) Q179K probably benign Het
Slc5a10 C T 11: 61,598,632 (GRCm39) W249* probably null Het
Spata32 T G 11: 103,098,973 (GRCm39) probably benign Het
Stk4 T A 2: 163,938,817 (GRCm39) H228Q probably damaging Het
Szt2 T A 4: 118,242,030 (GRCm39) Q1592L probably benign Het
Tnc T A 4: 63,893,493 (GRCm39) I1598F probably damaging Het
Togaram2 A T 17: 72,011,749 (GRCm39) D476V probably benign Het
Ttll6 T G 11: 96,030,601 (GRCm39) probably benign Het
Vmn2r118 A G 17: 55,899,655 (GRCm39) S750P probably benign Het
Zswim5 C T 4: 116,842,892 (GRCm39) T879I probably damaging Het
Other mutations in Or8b57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Or8b57 APN 9 40,004,029 (GRCm39) missense probably damaging 1.00
IGL01329:Or8b57 APN 9 40,003,324 (GRCm39) missense possibly damaging 0.90
IGL01892:Or8b57 APN 9 40,004,114 (GRCm39) missense probably damaging 1.00
R0025:Or8b57 UTSW 9 40,003,549 (GRCm39) missense probably damaging 1.00
R0066:Or8b57 UTSW 9 40,003,983 (GRCm39) missense possibly damaging 0.74
R0136:Or8b57 UTSW 9 40,003,315 (GRCm39) makesense probably null
R0715:Or8b57 UTSW 9 40,003,807 (GRCm39) missense probably damaging 1.00
R2345:Or8b57 UTSW 9 40,003,849 (GRCm39) missense probably benign 0.09
R3432:Or8b57 UTSW 9 40,003,845 (GRCm39) missense probably damaging 1.00
R5027:Or8b57 UTSW 9 40,003,690 (GRCm39) missense probably damaging 1.00
R6874:Or8b57 UTSW 9 40,004,022 (GRCm39) missense probably benign 0.22
R7818:Or8b57 UTSW 9 40,004,008 (GRCm39) missense probably damaging 1.00
R7823:Or8b57 UTSW 9 40,003,644 (GRCm39) missense probably damaging 1.00
R8304:Or8b57 UTSW 9 40,003,650 (GRCm39) missense probably damaging 1.00
R8337:Or8b57 UTSW 9 40,003,695 (GRCm39) missense probably benign 0.00
R9276:Or8b57 UTSW 9 40,003,632 (GRCm39) missense possibly damaging 0.88
R9318:Or8b57 UTSW 9 40,004,112 (GRCm39) missense possibly damaging 0.81
R9631:Or8b57 UTSW 9 40,004,223 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16