Incidental Mutation 'IGL03026:Olfr1392'
ID408151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1392
Ensembl Gene ENSMUSG00000101750
Gene Nameolfactory receptor 1392
SynonymsMOR256-25, GA_x6K02T2QP88-6141322-6140387
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.083) question?
Stock #IGL03026
Quality Score
Status
Chromosome11
Chromosomal Location49285282-49295891 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 49293458 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 46 (I46F)
Ref Sequence ENSEMBL: ENSMUSP00000149746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000189851] [ENSMUST00000214170] [ENSMUST00000214598] [ENSMUST00000215861] [ENSMUST00000217275]
Predicted Effect probably damaging
Transcript: ENSMUST00000189851
AA Change: I46F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140904
Gene: ENSMUSG00000101750
AA Change: I46F

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 probably damaging
Transcript: ENSMUST00000214170
AA Change: I46F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214516
Predicted Effect probably damaging
Transcript: ENSMUST00000214598
AA Change: I46F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000215861
AA Change: I46F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Predicted Effect probably damaging
Transcript: ENSMUST00000217275
AA Change: I46F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,519,690 V154A possibly damaging Het
Adcy4 T C 14: 55,778,010 Y481C probably damaging Het
Adcy5 T C 16: 35,157,042 V315A probably benign Het
Atf7ip G A 6: 136,605,382 S1130N possibly damaging Het
Ctss A G 3: 95,538,830 D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 K254N probably benign Het
Dnajc10 A G 2: 80,349,303 D727G probably damaging Het
Dsg3 G A 18: 20,536,972 probably null Het
Ehmt1 T C 2: 24,852,734 M478V probably benign Het
Enam A T 5: 88,503,299 N889I probably benign Het
Exo1 G T 1: 175,908,437 *148L probably null Het
Fam133b G T 5: 3,559,646 probably benign Het
Foxj2 G A 6: 122,838,180 A392T probably benign Het
Gbp4 G T 5: 105,120,000 A460E possibly damaging Het
Has3 A T 8: 106,878,610 I483F probably benign Het
Hist1h1b G A 13: 21,779,947 probably benign Het
Irak2 T A 6: 113,676,651 V260E probably damaging Het
Kcnj8 T C 6: 142,566,473 probably null Het
Lama5 A G 2: 180,195,967 V936A probably benign Het
Lmo7 C T 14: 101,929,333 probably benign Het
Morc3 T A 16: 93,862,724 probably benign Het
Muc6 T C 7: 141,640,147 probably benign Het
Nkx2-2 T C 2: 147,185,822 Y66C probably damaging Het
Oaz1 G A 10: 80,828,800 probably benign Het
Olfr768 G A 10: 129,093,188 A262V possibly damaging Het
Olfr808 A T 10: 129,768,041 M182L probably benign Het
Pkd2 A T 5: 104,494,887 probably benign Het
Plcb4 A G 2: 135,950,429 probably benign Het
Ralgapa2 C A 2: 146,460,775 probably benign Het
Rfx7 T C 9: 72,619,685 S1386P probably damaging Het
Ric1 T G 19: 29,599,833 W1046G probably benign Het
Rrp12 C A 19: 41,872,997 R957L probably damaging Het
Scn7a T C 2: 66,676,098 I1482M probably damaging Het
Sema3b T C 9: 107,602,063 N236S probably damaging Het
Skint6 T A 4: 112,991,244 probably null Het
Slfn5 T C 11: 82,956,561 Y91H probably benign Het
Sptbn2 T A 19: 4,724,233 probably null Het
Szt2 A G 4: 118,391,849 L546P probably benign Het
Tas1r3 A G 4: 155,861,843 probably benign Het
Trim75 A G 8: 64,983,786 V4A probably benign Het
Usp19 T C 9: 108,493,145 L56P probably damaging Het
Vmn1r181 T G 7: 23,984,575 I155S possibly damaging Het
Vmn2r43 G T 7: 8,255,097 D372E probably benign Het
Vstm2b C A 7: 40,902,521 S99* probably null Het
Wdr11 A G 7: 129,624,336 D735G probably damaging Het
Wee2 T A 6: 40,461,981 M346K probably benign Het
Zap70 A G 1: 36,779,717 K371R possibly damaging Het
Zfp990 A T 4: 145,537,110 H226L possibly damaging Het
Other mutations in Olfr1392
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01066:Olfr1392 APN 11 49293630 missense possibly damaging 0.55
IGL02530:Olfr1392 APN 11 49293728 missense possibly damaging 0.78
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
X0012:Olfr1392 UTSW 11 49293933 missense probably benign 0.36
X0025:Olfr1392 UTSW 11 49293953 missense probably benign 0.00
Posted On2016-08-02