Incidental Mutation 'IGL03182:Or5b116'
ID 412271
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5b116
Ensembl Gene ENSMUSG00000096320
Gene Name olfactory receptor family 5 subfamily B member 116
Synonyms GA_x6K02T2RE5P-3777626-3778570, Olfr1471, MOR202-47_p, MOR202-38
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # IGL03182
Quality Score
Status
Chromosome 19
Chromosomal Location 13422378-13423322 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 13422807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 144 (T144P)
Ref Sequence ENSEMBL: ENSMUSP00000149948 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096203] [ENSMUST00000217249] [ENSMUST00000217482]
AlphaFold F6QVZ8
Predicted Effect possibly damaging
Transcript: ENSMUST00000096203
AA Change: T144P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093917
Gene: ENSMUSG00000096320
AA Change: T144P

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 1.1e-53 PFAM
Pfam:7TM_GPCR_Srsx 33 303 1.1e-8 PFAM
Pfam:7tm_1 39 288 4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213561
Predicted Effect possibly damaging
Transcript: ENSMUST00000217249
AA Change: T144P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217482
AA Change: T144P

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,780,435 (GRCm39) K469N probably damaging Het
Aldh2 A G 5: 121,718,787 (GRCm39) probably benign Het
Ankfy1 T C 11: 72,619,580 (GRCm39) probably benign Het
Ankhd1 C T 18: 36,711,827 (GRCm39) T209I probably benign Het
Aox3 G A 1: 58,205,046 (GRCm39) V754I probably benign Het
Arfgef3 C T 10: 18,476,292 (GRCm39) R1509H probably damaging Het
Ccdc157 A G 11: 4,101,832 (GRCm39) S30P probably damaging Het
Cept1 T A 3: 106,411,866 (GRCm39) E369D probably damaging Het
Clcnka T C 4: 141,121,798 (GRCm39) Y236C probably damaging Het
Ddx42 A T 11: 106,138,353 (GRCm39) L717F probably benign Het
Dnah11 A T 12: 117,994,026 (GRCm39) I2340N probably damaging Het
Dsel T C 1: 111,787,868 (GRCm39) E889G probably damaging Het
Fasn T C 11: 120,703,552 (GRCm39) Y1560C probably damaging Het
Fermt2 A T 14: 45,699,225 (GRCm39) M623K possibly damaging Het
Gm21970 T A 16: 91,190,726 (GRCm39) S110T possibly damaging Het
Gm826 T A 2: 160,169,035 (GRCm39) R91S unknown Het
Lrrn3 A G 12: 41,504,020 (GRCm39) L99S probably damaging Het
Megf8 T A 7: 25,046,773 (GRCm39) M1552K possibly damaging Het
Mgll G T 6: 88,800,173 (GRCm39) V191F probably damaging Het
Nkapd1 T C 9: 50,523,698 (GRCm39) N50S possibly damaging Het
Nol8 C A 13: 49,817,557 (GRCm39) H778N probably damaging Het
Or1e26 T A 11: 73,480,268 (GRCm39) T99S probably benign Het
Or8g30 A T 9: 39,230,277 (GRCm39) M211K probably benign Het
Or8k40 A T 2: 86,584,366 (GRCm39) S239T probably damaging Het
Pfkfb3 A T 2: 11,506,474 (GRCm39) I13N probably damaging Het
Pim1 T A 17: 29,710,740 (GRCm39) D114E possibly damaging Het
Pkd1 T C 17: 24,792,792 (GRCm39) L1493P probably damaging Het
Plb1 A T 5: 32,502,259 (GRCm39) probably benign Het
Plch1 A T 3: 63,610,015 (GRCm39) Y872* probably null Het
Rictor A G 15: 6,819,079 (GRCm39) D1434G probably benign Het
Rptor G A 11: 119,615,971 (GRCm39) G162R probably damaging Het
Serping1 T C 2: 84,596,162 (GRCm39) D424G probably damaging Het
Slit2 A G 5: 48,377,395 (GRCm39) I475V possibly damaging Het
Snx31 G T 15: 36,525,833 (GRCm39) Q289K probably benign Het
Tbc1d13 G A 2: 30,037,379 (GRCm39) A254T probably damaging Het
Tek T C 4: 94,740,002 (GRCm39) I750T probably damaging Het
Tet2 A T 3: 133,177,159 (GRCm39) L1296* probably null Het
Tmem145 T A 7: 25,014,304 (GRCm39) F459I probably damaging Het
Uba5 A T 9: 103,931,328 (GRCm39) V247D possibly damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vwde T C 6: 13,187,138 (GRCm39) D783G probably damaging Het
Zfp609 A G 9: 65,608,287 (GRCm39) S1198P probably benign Het
Other mutations in Or5b116
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Or5b116 APN 19 13,422,988 (GRCm39) missense probably benign 0.00
IGL01790:Or5b116 APN 19 13,422,526 (GRCm39) missense probably damaging 1.00
IGL02515:Or5b116 APN 19 13,422,472 (GRCm39) missense probably damaging 1.00
IGL02838:Or5b116 APN 19 13,423,299 (GRCm39) missense probably benign
R0267:Or5b116 UTSW 19 13,422,792 (GRCm39) missense probably damaging 0.99
R0524:Or5b116 UTSW 19 13,423,228 (GRCm39) missense probably damaging 1.00
R1584:Or5b116 UTSW 19 13,423,023 (GRCm39) missense probably damaging 1.00
R2253:Or5b116 UTSW 19 13,422,549 (GRCm39) missense probably damaging 1.00
R5267:Or5b116 UTSW 19 13,422,475 (GRCm39) missense probably damaging 1.00
R6419:Or5b116 UTSW 19 13,423,131 (GRCm39) missense probably benign 0.00
R6495:Or5b116 UTSW 19 13,422,989 (GRCm39) missense probably benign 0.43
R7714:Or5b116 UTSW 19 13,423,252 (GRCm39) missense probably damaging 1.00
R7830:Or5b116 UTSW 19 13,422,985 (GRCm39) missense probably benign 0.33
R7882:Or5b116 UTSW 19 13,422,951 (GRCm39) missense probably benign 0.02
R7892:Or5b116 UTSW 19 13,422,662 (GRCm39) nonsense probably null
Z1088:Or5b116 UTSW 19 13,423,213 (GRCm39) missense possibly damaging 0.94
Posted On 2016-08-02