Incidental Mutation 'IGL01066:Olfr1392'
ID 52204
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1392
Ensembl Gene ENSMUSG00000101750
Gene Name olfactory receptor 1392
Synonyms MOR256-25, GA_x6K02T2QP88-6141322-6140387
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.142) question?
Stock # IGL01066
Quality Score
Status
Chromosome 11
Chromosomal Location 49285282-49295891 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 49293630 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 103 (I103T)
Ref Sequence ENSEMBL: ENSMUSP00000149746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189851] [ENSMUST00000214170] [ENSMUST00000214598] [ENSMUST00000215861] [ENSMUST00000217275]
AlphaFold Q8VFA6
Predicted Effect unknown
Transcript: ENSMUST00000054866
AA Change: I103T

PolyPhen 2 Score 0.000 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000060333
Gene: ENSMUSG00000050959
AA Change: I103T

DomainStartEndE-ValueType
Pfam:7tm_4 28 307 4.9e-45 PFAM
Pfam:7TM_GPCR_Srsx 35 222 7.1e-8 PFAM
Pfam:7tm_1 41 289 2.5e-24 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000189851
AA Change: I103T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: I103T

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 222 7.1e-8 PFAM
Pfam:7tm_1 41 289 2.4e-32 PFAM
Pfam:7tm_4 139 282 1.8e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213684
Predicted Effect possibly damaging
Transcript: ENSMUST00000214170
AA Change: I103T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214516
Predicted Effect possibly damaging
Transcript: ENSMUST00000214598
AA Change: I103T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215861
AA Change: I103T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217275
AA Change: I103T

PolyPhen 2 Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2300003K06Rik T A 11: 99,837,628 R130* probably null Het
9030624J02Rik T A 7: 118,773,011 probably null Het
Abca12 T A 1: 71,353,730 R117W possibly damaging Het
Agrn A G 4: 156,177,343 S497P probably benign Het
Alpk1 A T 3: 127,680,225 S710T probably benign Het
Anapc4 T A 5: 52,857,209 N471K probably benign Het
Ano3 A T 2: 110,661,445 M879K probably null Het
Apoe A G 7: 19,696,600 L239P probably damaging Het
Ash1l T C 3: 88,984,635 Y1274H probably damaging Het
B3glct C T 5: 149,709,425 T80I possibly damaging Het
Casc1 C T 6: 145,176,222 G624S probably damaging Het
Ccdc146 T C 5: 21,319,542 T271A probably benign Het
Chd8 T A 14: 52,217,766 N1088I probably damaging Het
Csnk1g2 T C 10: 80,634,647 probably benign Het
Daxx T A 17: 33,913,893 V627D probably benign Het
Dpy19l3 A G 7: 35,692,767 probably benign Het
Enc1 A G 13: 97,245,314 I111V probably benign Het
Ep400 A G 5: 110,668,199 probably benign Het
Fig4 T C 10: 41,285,417 probably benign Het
Fkbp7 A T 2: 76,672,908 L36* probably null Het
Fxn A T 19: 24,267,298 probably benign Het
Gm10152 C T 7: 144,763,256 P16L unknown Het
Hivep2 T C 10: 14,149,024 V2194A possibly damaging Het
Hook3 T G 8: 26,048,298 E525A probably damaging Het
Icam1 A G 9: 21,016,105 probably null Het
Ifngr1 C T 10: 19,609,198 T315I probably damaging Het
Igsf10 A G 3: 59,327,782 probably null Het
Krt87 A G 15: 101,438,385 probably null Het
Lama1 T A 17: 67,743,326 C311S probably damaging Het
Lig3 T A 11: 82,797,315 M714K possibly damaging Het
Lrmp T C 6: 145,160,955 S222P probably damaging Het
Lypd5 C T 7: 24,353,485 T189I probably benign Het
Mapk8ip3 C T 17: 24,901,718 G807D probably benign Het
Met T C 6: 17,535,105 probably null Het
Nlrp4g C A 9: 124,349,526 noncoding transcript Het
Nlrp6 T A 7: 140,921,796 V62D possibly damaging Het
Nme7 A G 1: 164,345,430 probably null Het
Olfr1034 A G 2: 86,047,258 R259G probably damaging Het
Olfr507 T C 7: 108,621,857 F15S probably damaging Het
Pcnx G A 12: 81,992,021 R2020Q possibly damaging Het
Pdzd2 T A 15: 12,402,632 probably benign Het
Pi4ka A G 16: 17,348,773 probably benign Het
Pkdrej T G 15: 85,816,159 I1859L probably benign Het
Plcg1 A T 2: 160,754,398 H638L probably damaging Het
Polr1b C T 2: 129,119,152 S677L probably damaging Het
Ppef2 A G 5: 92,234,237 L533P probably damaging Het
Sh3rf1 T A 8: 61,329,336 W171R probably damaging Het
Son T C 16: 91,660,136 probably benign Het
Sycp1 A G 3: 102,920,634 S266P probably damaging Het
Tedc1 A G 12: 113,163,150 E344G probably damaging Het
Tkfc T C 19: 10,594,528 I381M probably benign Het
Tmprss6 T C 15: 78,442,434 D1G probably null Het
Ttn T C 2: 76,752,426 T22708A probably damaging Het
Ubtf T C 11: 102,308,884 probably benign Het
Vwc2l T C 1: 70,728,911 F45L probably damaging Het
Xpo7 T C 14: 70,701,755 T154A probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Olfr1392
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02530:Olfr1392 APN 11 49293728 missense possibly damaging 0.78
IGL03026:Olfr1392 APN 11 49293458 missense probably damaging 0.99
IGL03106:Olfr1392 APN 11 49294161 missense probably damaging 0.99
R0357:Olfr1392 UTSW 11 49293786 missense probably damaging 0.96
R0396:Olfr1392 UTSW 11 49293338 missense probably benign 0.00
R2281:Olfr1392 UTSW 11 49293632 missense probably benign 0.04
R4319:Olfr1392 UTSW 11 49293676 missense probably damaging 1.00
R4320:Olfr1392 UTSW 11 49293676 missense probably damaging 1.00
R4322:Olfr1392 UTSW 11 49293676 missense probably damaging 1.00
R4323:Olfr1392 UTSW 11 49293676 missense probably damaging 1.00
R5327:Olfr1392 UTSW 11 49293666 missense probably damaging 1.00
R6749:Olfr1392 UTSW 11 49294050 missense probably damaging 1.00
R7779:Olfr1392 UTSW 11 49294221 missense probably damaging 1.00
R8122:Olfr1392 UTSW 11 49293574 missense probably damaging 0.99
R8356:Olfr1392 UTSW 11 49293558 missense probably damaging 1.00
R8456:Olfr1392 UTSW 11 49293558 missense probably damaging 1.00
R8737:Olfr1392 UTSW 11 49294138 missense probably damaging 1.00
R8746:Olfr1392 UTSW 11 49293166 intron probably benign
R9375:Olfr1392 UTSW 11 49294075 nonsense probably null
X0012:Olfr1392 UTSW 11 49293933 missense probably benign 0.36
X0025:Olfr1392 UTSW 11 49293953 missense probably benign 0.00
Posted On 2013-06-21