Incidental Mutation 'IGL02151:Or11a4'
ID 282018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or11a4
Ensembl Gene ENSMUSG00000064121
Gene Name olfactory receptor family 11 subfamily A member 4
Synonyms MOR121-1, Olfr96, GA_x6K02T2PSCP-1665046-1665987
Accession Numbers
Essential gene? Probably non essential (E-score: 0.205) question?
Stock # IGL02151
Quality Score
Status
Chromosome 17
Chromosomal Location 37535982-37537032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37536057 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 14 (F14I)
Ref Sequence ENSEMBL: ENSMUSP00000151151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078209] [ENSMUST00000213475] [ENSMUST00000214482]
AlphaFold Q8VFE3
Predicted Effect probably damaging
Transcript: ENSMUST00000078209
AA Change: F14I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000077338
Gene: ENSMUSG00000064121
AA Change: F14I

DomainStartEndE-ValueType
Pfam:7tm_4 33 309 6.6e-53 PFAM
Pfam:7tm_1 43 291 6.2e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213475
AA Change: F14I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000214482
AA Change: F14I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G T 5: 50,136,484 (GRCm39) T667N probably benign Het
Aff4 T C 11: 53,290,633 (GRCm39) I531T probably benign Het
Akap9 C T 5: 4,082,728 (GRCm39) Q1951* probably null Het
Arhgef10 C T 8: 14,978,889 (GRCm39) T52M possibly damaging Het
Atg2a A G 19: 6,305,787 (GRCm39) E1132G possibly damaging Het
AW551984 A C 9: 39,504,241 (GRCm39) I575S probably benign Het
Cfap299 C T 5: 98,477,301 (GRCm39) T24M probably damaging Het
Cog7 T C 7: 121,543,031 (GRCm39) E460G probably damaging Het
Ctse A G 1: 131,600,273 (GRCm39) I341V probably benign Het
Dcpp1 A T 17: 24,101,568 (GRCm39) I106L possibly damaging Het
Dcxr T A 11: 120,616,809 (GRCm39) M158L probably benign Het
Dnah11 A T 12: 118,023,623 (GRCm39) probably benign Het
Dnah7a T A 1: 53,512,023 (GRCm39) I3013F probably benign Het
Dnah8 A G 17: 30,867,391 (GRCm39) D281G possibly damaging Het
Dpysl3 G A 18: 43,491,365 (GRCm39) H136Y probably damaging Het
Eaf1 C T 14: 31,219,744 (GRCm39) T61M probably damaging Het
Fmnl1 A G 11: 103,083,598 (GRCm39) T441A probably benign Het
Hmgcll1 C T 9: 75,988,720 (GRCm39) P197L probably benign Het
Kdm4b T C 17: 56,703,234 (GRCm39) V643A probably benign Het
Lrch2 A G X: 146,336,716 (GRCm39) F111L possibly damaging Het
Macf1 A T 4: 123,265,559 (GRCm39) probably benign Het
Mfsd4b2 T C 10: 39,797,687 (GRCm39) N223D probably damaging Het
Mug1 G A 6: 121,861,649 (GRCm39) probably null Het
Nek7 A T 1: 138,414,838 (GRCm39) L270Q probably damaging Het
Nexn T A 3: 151,953,881 (GRCm39) D127V probably damaging Het
Nxf3 A G X: 134,980,322 (GRCm39) F130S probably damaging Het
Or52ac1 A G 7: 104,245,741 (GRCm39) S216P probably damaging Het
Pcdhb16 G A 18: 37,611,411 (GRCm39) V124I possibly damaging Het
Podxl T C 6: 31,501,394 (GRCm39) D387G possibly damaging Het
Prp2rt T A 13: 97,235,682 (GRCm39) T22S probably null Het
Rab3d C A 9: 21,827,020 (GRCm39) R70M probably damaging Het
Ripk2 A T 4: 16,139,240 (GRCm39) M219K possibly damaging Het
Rnf146 A G 10: 29,223,349 (GRCm39) V179A probably damaging Het
Robo1 G T 16: 72,786,504 (GRCm39) V839L probably benign Het
Rttn T A 18: 89,038,329 (GRCm39) N808K probably damaging Het
Slc12a3 T G 8: 95,075,220 (GRCm39) V738G probably benign Het
Slc26a3 T C 12: 31,497,830 (GRCm39) V78A probably damaging Het
Slc26a9 G A 1: 131,691,781 (GRCm39) V675M probably damaging Het
Sncb T A 13: 54,910,509 (GRCm39) I76F probably benign Het
Stat4 G A 1: 52,053,029 (GRCm39) R70H probably damaging Het
Tle6 T C 10: 81,434,474 (GRCm39) M42V probably benign Het
Tmem67 T C 4: 12,068,882 (GRCm39) T439A probably benign Het
Ugt2b35 C A 5: 87,151,141 (GRCm39) T249K possibly damaging Het
Vmn1r231 C T 17: 21,109,997 (GRCm39) R306K probably benign Het
Vmn1r42 A T 6: 89,822,023 (GRCm39) I182N possibly damaging Het
Zfhx3 T C 8: 109,520,515 (GRCm39) S546P probably damaging Het
Zic3 G T X: 57,076,899 (GRCm39) probably null Het
Other mutations in Or11a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01868:Or11a4 APN 17 37,536,043 (GRCm39) missense probably benign 0.05
IGL02335:Or11a4 APN 17 37,536,217 (GRCm39) missense probably damaging 0.97
R0360:Or11a4 UTSW 17 37,536,934 (GRCm39) missense possibly damaging 0.49
R0364:Or11a4 UTSW 17 37,536,934 (GRCm39) missense possibly damaging 0.49
R1763:Or11a4 UTSW 17 37,536,321 (GRCm39) missense probably benign 0.02
R3977:Or11a4 UTSW 17 37,536,049 (GRCm39) missense probably benign 0.24
R6116:Or11a4 UTSW 17 37,536,459 (GRCm39) missense probably benign 0.00
R6248:Or11a4 UTSW 17 37,536,451 (GRCm39) nonsense probably null
R6378:Or11a4 UTSW 17 37,536,688 (GRCm39) missense probably benign 0.21
R6518:Or11a4 UTSW 17 37,536,159 (GRCm39) missense probably benign 0.05
R6614:Or11a4 UTSW 17 37,536,790 (GRCm39) missense probably benign 0.01
R6798:Or11a4 UTSW 17 37,536,697 (GRCm39) missense probably damaging 1.00
R6874:Or11a4 UTSW 17 37,536,238 (GRCm39) missense probably benign 0.00
R7468:Or11a4 UTSW 17 37,536,276 (GRCm39) missense probably benign 0.01
R7820:Or11a4 UTSW 17 37,536,786 (GRCm39) missense probably benign 0.00
R7852:Or11a4 UTSW 17 37,536,163 (GRCm39) missense probably benign 0.01
R8322:Or11a4 UTSW 17 37,536,241 (GRCm39) missense probably damaging 0.99
R8481:Or11a4 UTSW 17 37,536,295 (GRCm39) missense probably damaging 1.00
R8933:Or11a4 UTSW 17 37,536,346 (GRCm39) missense possibly damaging 0.96
X0027:Or11a4 UTSW 17 37,536,634 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16