Incidental Mutation 'IGL02389:Or5b94'
ID 291666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b94
Ensembl Gene ENSMUSG00000044441
Gene Name olfactory receptor family 5 subfamily B member 94
Synonyms Olfr1442, GA_x6K02T2RE5P-3000589-3001527, MOR202-9
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02389
Quality Score
Status
Chromosome 19
Chromosomal Location 12651543-12652607 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12651899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 110 (D110V)
Ref Sequence ENSEMBL: ENSMUSP00000146650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049724] [ENSMUST00000057924] [ENSMUST00000207341] [ENSMUST00000208494] [ENSMUST00000208657] [ENSMUST00000213486] [ENSMUST00000215134]
AlphaFold Q0VEV7
Predicted Effect probably benign
Transcript: ENSMUST00000049724
SMART Domains Protein: ENSMUSP00000059886
Gene: ENSMUSG00000045030

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.4e-50 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.5e-6 PFAM
Pfam:7tm_1 39 288 8.6e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000057924
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000050632
Gene: ENSMUSG00000044441
AA Change: D110V

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 7.9e-49 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.6e-6 PFAM
Pfam:7tm_1 39 288 1.6e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207341
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000208494
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000208657
AA Change: D110V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000213486
Predicted Effect probably benign
Transcript: ENSMUST00000215134
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G A 5: 64,053,826 (GRCm39) S11N probably null Het
Aqp9 T C 9: 71,030,188 (GRCm39) I200V possibly damaging Het
Cntn2 T C 1: 132,453,059 (GRCm39) E411G probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cstdc5 C A 16: 36,187,848 (GRCm39) V6F possibly damaging Het
Dennd3 A G 15: 73,438,905 (GRCm39) D1091G probably damaging Het
Dock2 T C 11: 34,589,567 (GRCm39) probably benign Het
Dscam T A 16: 96,442,097 (GRCm39) I1577F probably benign Het
Egflam A T 15: 7,279,559 (GRCm39) N482K probably benign Het
Fam216a T C 5: 122,505,574 (GRCm39) T129A probably damaging Het
Fbxo40 T C 16: 36,790,136 (GRCm39) M325V probably benign Het
Fbxw8 C T 5: 118,267,020 (GRCm39) V148M possibly damaging Het
Fcgbp C T 7: 27,774,596 (GRCm39) R57C probably damaging Het
Gnpnat1 A G 14: 45,618,388 (GRCm39) probably null Het
Gria2 T C 3: 80,616,729 (GRCm39) T408A probably benign Het
H2-T3 A G 17: 36,497,500 (GRCm39) M59T probably benign Het
Jakmip1 C T 5: 37,258,187 (GRCm39) Q278* probably null Het
Krtap21-1 C T 16: 89,200,312 (GRCm39) G110D unknown Het
Myo7a C T 7: 97,756,198 (GRCm39) probably null Het
Nlrp9c T A 7: 26,093,632 (GRCm39) Q11L probably benign Het
Or14a257 A G 7: 86,138,336 (GRCm39) L141P probably damaging Het
Or6c75 T A 10: 129,336,939 (GRCm39) M62K probably benign Het
Or6c8 A C 10: 128,915,099 (GRCm39) I244M probably damaging Het
Pdzd8 A G 19: 59,289,825 (GRCm39) I525T probably benign Het
Pign A T 1: 105,574,506 (GRCm39) L280* probably null Het
Pik3r4 T G 9: 105,527,530 (GRCm39) I294M possibly damaging Het
Pkhd1 T A 1: 20,187,944 (GRCm39) I3455F probably damaging Het
Prmt3 C T 7: 49,498,506 (GRCm39) Q471* probably null Het
Prrc2c A G 1: 162,520,439 (GRCm39) F2006L probably damaging Het
Ptger3 C T 3: 157,272,808 (GRCm39) R52C probably damaging Het
Rfx2 T C 17: 57,115,325 (GRCm39) probably benign Het
Sh3bp4 T C 1: 89,072,870 (GRCm39) F573L probably damaging Het
Slc18a2 G T 19: 59,251,733 (GRCm39) probably benign Het
Slc26a8 T A 17: 28,857,624 (GRCm39) I840F probably benign Het
Slc5a4b A T 10: 75,908,299 (GRCm39) Y364* probably null Het
Slitrk1 A G 14: 109,149,754 (GRCm39) I319T probably benign Het
Stxbp5l C T 16: 37,028,567 (GRCm39) A499T probably benign Het
Tnks2 T A 19: 36,861,503 (GRCm39) S951R probably benign Het
Trim30c A G 7: 104,031,381 (GRCm39) F478S probably benign Het
Tyro3 C T 2: 119,635,345 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,042 (GRCm39) L232Q probably damaging Het
Zfp148 T A 16: 33,315,816 (GRCm39) C215S probably damaging Het
Zzef1 C T 11: 72,782,043 (GRCm39) P1995S probably benign Het
Zzef1 T A 11: 72,790,364 (GRCm39) V2106D possibly damaging Het
Other mutations in Or5b94
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Or5b94 APN 19 12,651,924 (GRCm39) nonsense probably null
IGL00969:Or5b94 APN 19 12,651,605 (GRCm39) missense probably damaging 1.00
IGL01788:Or5b94 APN 19 12,652,442 (GRCm39) missense probably damaging 0.97
IGL02081:Or5b94 APN 19 12,652,180 (GRCm39) missense probably benign
IGL02335:Or5b94 APN 19 12,651,602 (GRCm39) missense probably damaging 0.97
IGL02383:Or5b94 APN 19 12,651,899 (GRCm39) missense probably benign 0.01
IGL02484:Or5b94 APN 19 12,652,223 (GRCm39) missense possibly damaging 0.56
IGL02682:Or5b94 APN 19 12,652,033 (GRCm39) missense probably damaging 0.98
IGL03136:Or5b94 APN 19 12,652,331 (GRCm39) missense probably damaging 0.99
R0109:Or5b94 UTSW 19 12,652,224 (GRCm39) missense probably benign 0.02
R0109:Or5b94 UTSW 19 12,652,224 (GRCm39) missense probably benign 0.02
R0112:Or5b94 UTSW 19 12,652,121 (GRCm39) missense probably benign
R4005:Or5b94 UTSW 19 12,652,210 (GRCm39) missense probably benign 0.05
R4346:Or5b94 UTSW 19 12,651,592 (GRCm39) missense probably benign 0.03
R4611:Or5b94 UTSW 19 12,652,318 (GRCm39) missense probably damaging 1.00
R5858:Or5b94 UTSW 19 12,651,743 (GRCm39) missense probably damaging 1.00
R5944:Or5b94 UTSW 19 12,652,283 (GRCm39) missense probably damaging 1.00
R6406:Or5b94 UTSW 19 12,652,184 (GRCm39) missense probably benign 0.21
R6923:Or5b94 UTSW 19 12,652,409 (GRCm39) missense possibly damaging 0.94
R7710:Or5b94 UTSW 19 12,652,340 (GRCm39) missense probably damaging 1.00
R8699:Or5b94 UTSW 19 12,652,246 (GRCm39) missense probably benign 0.21
Z1176:Or5b94 UTSW 19 12,651,674 (GRCm39) missense probably benign
Posted On 2015-04-16