Incidental Mutation 'IGL02445:Olfr126'
ID293535
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr126
Ensembl Gene ENSMUSG00000109212
Gene Nameolfactory receptor 126
SynonymsGA_x6K02T2PSCP-2307164-2308123, MOR218-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #IGL02445
Quality Score
Status
Chromosome17
Chromosomal Location37847483-37852057 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37851117 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 175 (H175L)
Ref Sequence ENSEMBL: ENSMUSP00000151205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000174139] [ENSMUST00000213844] [ENSMUST00000217487]
Predicted Effect probably damaging
Transcript: ENSMUST00000174139
AA Change: H175L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134080
Gene: ENSMUSG00000109212
AA Change: H175L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 3.7e-46 PFAM
Pfam:7TM_GPCR_Srx 32 307 3.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 35 305 4.2e-6 PFAM
Pfam:7tm_1 41 290 2.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201362
AA Change: H175L
Predicted Effect probably damaging
Transcript: ENSMUST00000213844
AA Change: H175L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000217487
AA Change: H175L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik T A 8: 84,159,508 M31K probably benign Het
Acacb C T 5: 114,245,137 T2127M probably damaging Het
Acp2 A G 2: 91,206,261 D175G possibly damaging Het
Adamts12 T C 15: 11,286,712 L801P probably damaging Het
Adcy10 T G 1: 165,570,744 V1470G possibly damaging Het
Ankar T G 1: 72,666,365 K829Q probably benign Het
Arhgef10l T C 4: 140,547,007 Y531C probably benign Het
Atm T C 9: 53,454,330 I2590V probably benign Het
Cblb T C 16: 52,166,305 L485P probably damaging Het
Col4a1 T C 8: 11,233,911 probably benign Het
Coprs T C 8: 13,885,797 K74R possibly damaging Het
Cul3 A T 1: 80,304,169 L31M possibly damaging Het
Cyp3a59 C A 5: 146,096,653 Q200K probably benign Het
Ddx19b C A 8: 111,008,824 V402L probably damaging Het
Disc1 T A 8: 125,148,403 probably benign Het
Dsg4 C T 18: 20,446,250 probably benign Het
Dspp A C 5: 104,177,097 Y442S probably damaging Het
Dtl C T 1: 191,558,060 probably null Het
Ezh1 A C 11: 101,210,687 V175G possibly damaging Het
Hepacam2 C T 6: 3,483,481 G100D probably damaging Het
Herc1 T A 9: 66,433,482 H1704Q possibly damaging Het
Kif26a T C 12: 112,173,743 S469P probably damaging Het
Lefty1 T C 1: 180,937,677 M270T probably benign Het
Nap1l3 A T X: 122,396,055 V322D probably damaging Het
Ndufv2 A G 17: 66,080,894 probably benign Het
Olfr1179 G A 2: 88,402,112 T274I possibly damaging Het
Olfr922 T C 9: 38,815,605 I34T possibly damaging Het
Otol1 A T 3: 70,028,034 D453V probably damaging Het
Papolb G A 5: 142,528,725 H388Y probably benign Het
Ppp1r10 A G 17: 35,926,202 E128G probably damaging Het
Prss12 T A 3: 123,487,020 D451E probably damaging Het
Psmc1 T C 12: 100,114,828 probably benign Het
Pygo1 T A 9: 72,925,940 I10N probably benign Het
Rab31 C T 17: 65,722,003 probably null Het
Ret G A 6: 118,181,899 T184I probably damaging Het
Rhd A T 4: 134,884,170 M214L possibly damaging Het
Ripor3 C A 2: 167,992,762 probably benign Het
Sec16a A G 2: 26,422,040 L2036P probably benign Het
Slc26a3 C A 12: 31,457,052 D335E possibly damaging Het
Ssfa2 G A 2: 79,657,498 E642K probably damaging Het
Taf6 A G 5: 138,184,494 probably benign Het
Tnk2 T C 16: 32,675,590 V442A probably benign Het
Virma A G 4: 11,527,029 M1143V probably damaging Het
Vmn2r77 A T 7: 86,803,640 R522* probably null Het
Vmn2r-ps129 A G 17: 23,008,419 noncoding transcript Het
Zfp473 A G 7: 44,733,683 C408R probably damaging Het
Other mutations in Olfr126
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01082:Olfr126 APN 17 37850623 missense probably benign 0.01
IGL01656:Olfr126 APN 17 37851138 missense possibly damaging 0.60
IGL01674:Olfr126 APN 17 37609962 missense probably damaging 0.99
IGL01903:Olfr126 APN 17 37609867 missense possibly damaging 0.64
IGL02262:Olfr126 APN 17 37851263 missense probably damaging 1.00
R0559:Olfr126 UTSW 17 37850855 nonsense probably null
R1164:Olfr126 UTSW 17 37850684 missense probably damaging 0.99
R1828:Olfr126 UTSW 17 37851075 missense probably benign 0.11
R1840:Olfr126 UTSW 17 37850748 missense probably damaging 1.00
R1882:Olfr126 UTSW 17 37850948 missense probably damaging 1.00
R2368:Olfr126 UTSW 17 37850618 missense probably benign 0.00
R2377:Olfr126 UTSW 17 37850607 missense probably damaging 1.00
R3832:Olfr126 UTSW 17 37851180 missense probably benign 0.00
R6589:Olfr126 UTSW 17 37850836 nonsense probably null
R7794:Olfr126 UTSW 17 37850787 missense probably benign 0.10
R7853:Olfr126 UTSW 17 37850823 missense probably damaging 1.00
R7936:Olfr126 UTSW 17 37850823 missense probably damaging 1.00
R8009:Olfr126 UTSW 17 37850802 missense probably damaging 1.00
Posted On2015-04-16