Incidental Mutation 'IGL02160:Olfr1259'
ID282431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1259
Ensembl Gene ENSMUSG00000068806
Gene Nameolfactory receptor 1259
SynonymsGA_x6K02T2Q125-51376062-51375133, MOR232-9
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.511) question?
Stock #IGL02160
Quality Score
Status
Chromosome2
Chromosomal Location89940532-89948664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 89943805 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 103 (H103Q)
Ref Sequence ENSEMBL: ENSMUSP00000149652 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090695] [ENSMUST00000214846]
Predicted Effect probably damaging
Transcript: ENSMUST00000090695
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000088194
Gene: ENSMUSG00000068806
AA Change: H103Q

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 8.9e-45 PFAM
Pfam:7tm_1 39 285 5.5e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214846
AA Change: H103Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A T 11: 29,823,593 Y621* probably null Het
Acat1 A G 9: 53,591,987 V184A probably benign Het
Adam19 G A 11: 46,139,695 C750Y probably damaging Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cabp2 T A 19: 4,084,868 probably benign Het
Carmil3 T C 14: 55,493,558 M94T possibly damaging Het
Ccdc107 A G 4: 43,495,736 D213G probably damaging Het
Cdh23 T C 10: 60,597,765 probably benign Het
Cfhr2 T A 1: 139,810,926 D299V probably benign Het
Clcn7 T C 17: 25,149,030 probably benign Het
Clspn G A 4: 126,581,510 E1019K probably benign Het
Ctnna3 A G 10: 64,250,698 T350A probably benign Het
Dmbt1 G A 7: 131,082,688 G638E probably damaging Het
Ext2 A T 2: 93,813,584 D117E probably benign Het
Ffar4 T A 19: 38,097,455 V110D possibly damaging Het
Foxred2 G T 15: 77,955,650 Q147K probably benign Het
Gm960 T C 19: 4,663,584 D276G probably damaging Het
Heatr9 T C 11: 83,518,825 D107G probably benign Het
Hmgxb3 G A 18: 61,171,236 A94V probably damaging Het
Htr5b A T 1: 121,528,045 S49T possibly damaging Het
Il1rl1 A T 1: 40,461,837 M458L probably benign Het
Il23r A T 6: 67,423,578 N589K probably benign Het
Kbtbd11 G A 8: 15,028,801 V467M probably damaging Het
Kidins220 T A 12: 25,004,111 Y537N probably damaging Het
Kif27 T A 13: 58,325,998 E728D probably damaging Het
Lum T C 10: 97,568,581 S113P probably damaging Het
Mkln1 A G 6: 31,492,791 probably benign Het
Mmp17 A G 5: 129,595,569 D195G possibly damaging Het
Naa38 T A 11: 69,396,368 probably benign Het
Naalad2 G A 9: 18,379,937 A191V probably damaging Het
Naip6 A T 13: 100,299,425 H863Q probably benign Het
Ncoa6 A G 2: 155,421,083 V477A possibly damaging Het
Nipal3 G T 4: 135,474,417 Y153* probably null Het
Olfr1279 G A 2: 111,306,798 V198I probably benign Het
Olfr1413 T A 1: 92,573,357 L62Q probably damaging Het
Olfr270 A G 4: 52,971,194 D191G probably damaging Het
Olfr982 A T 9: 40,075,186 N297I probably damaging Het
Pik3c2a G A 7: 116,388,064 P541S probably damaging Het
Ppargc1b A T 18: 61,310,435 D552E probably damaging Het
Ppfia3 C A 7: 45,360,051 probably benign Het
Prcp G A 7: 92,917,761 S227N probably benign Het
Ptprq T A 10: 107,653,565 T900S probably benign Het
Ralgapa2 G A 2: 146,348,440 probably benign Het
Rcsd1 A G 1: 165,657,579 S102P probably damaging Het
Rfwd3 T A 8: 111,273,075 N757I possibly damaging Het
Rnf217 A T 10: 31,505,771 probably null Het
Scn2a A G 2: 65,730,116 D1230G probably damaging Het
Sdc3 T C 4: 130,818,575 probably benign Het
Slc27a4 G T 2: 29,805,962 D170Y probably benign Het
Tcof1 A G 18: 60,848,743 probably benign Het
Ticam1 T A 17: 56,270,560 I512F possibly damaging Het
Ticrr T C 7: 79,694,019 C1211R probably benign Het
Tlr2 A T 3: 83,837,371 N468K possibly damaging Het
Tmod4 T C 3: 95,129,113 probably benign Het
Tnxb T C 17: 34,714,745 S2380P probably benign Het
Tox A G 4: 6,711,537 V309A probably damaging Het
Tpgs2 A G 18: 25,140,580 F175L possibly damaging Het
Trim43b A G 9: 89,091,630 S17P probably benign Het
Ttc21a G T 9: 119,956,923 L662F probably damaging Het
Ubqln1 A T 13: 58,192,137 N261K probably damaging Het
Umodl1 T C 17: 30,986,117 V562A probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vars T A 17: 35,001,502 I20N probably damaging Het
Vcan T C 13: 89,684,493 N3092D probably damaging Het
Wdr66 A T 5: 123,256,018 E323D unknown Het
Zc3h6 G T 2: 128,997,685 E139D probably benign Het
Other mutations in Olfr1259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Olfr1259 APN 2 89943260 missense probably damaging 0.96
IGL01446:Olfr1259 APN 2 89943938 missense probably damaging 0.99
IGL01830:Olfr1259 APN 2 89943431 missense probably benign 0.03
PIT4280001:Olfr1259 UTSW 2 89943743 missense probably damaging 1.00
R0366:Olfr1259 UTSW 2 89943818 missense possibly damaging 0.89
R0550:Olfr1259 UTSW 2 89943389 missense probably damaging 0.99
R0587:Olfr1259 UTSW 2 89943392 missense probably damaging 1.00
R1383:Olfr1259 UTSW 2 89943551 missense probably benign 0.12
R1400:Olfr1259 UTSW 2 89943542 missense possibly damaging 0.82
R1851:Olfr1259 UTSW 2 89943814 nonsense probably null
R1953:Olfr1259 UTSW 2 89943923 missense probably damaging 1.00
R2330:Olfr1259 UTSW 2 89943953 missense probably benign
R3897:Olfr1259 UTSW 2 89943809 missense probably benign 0.24
R3955:Olfr1259 UTSW 2 89943828 missense possibly damaging 0.90
R4687:Olfr1259 UTSW 2 89943869 missense probably damaging 0.98
R4976:Olfr1259 UTSW 2 89943803 missense possibly damaging 0.77
R5119:Olfr1259 UTSW 2 89943803 missense possibly damaging 0.77
R5291:Olfr1259 UTSW 2 89943436 nonsense probably null
R5415:Olfr1259 UTSW 2 89943387 missense probably benign 0.25
R5546:Olfr1259 UTSW 2 89943585 missense probably damaging 1.00
R5588:Olfr1259 UTSW 2 89943792 missense probably benign 0.00
R6633:Olfr1259 UTSW 2 89943366 missense probably benign
R6858:Olfr1259 UTSW 2 89943743 missense probably damaging 0.99
R7294:Olfr1259 UTSW 2 89943724 nonsense probably null
R8261:Olfr1259 UTSW 2 89943372 missense probably benign 0.00
R8319:Olfr1259 UTSW 2 89943680 missense possibly damaging 0.87
Z1088:Olfr1259 UTSW 2 89943770 missense probably benign 0.01
Posted On2015-04-16