Incidental Mutation 'IGL02523:Olfr214'
ID296934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr214
Ensembl Gene ENSMUSG00000051046
Gene Nameolfactory receptor 214
SynonymsMOR119-1, GA_x54KRFPKN04-58190962-58191900
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.222) question?
Stock #IGL02523
Quality Score
Status
Chromosome6
Chromosomal Location116554235-116560611 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 116557093 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 223 (I223L)
Ref Sequence ENSEMBL: ENSMUSP00000150737 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060204] [ENSMUST00000122096] [ENSMUST00000203867] [ENSMUST00000214699] [ENSMUST00000215846] [ENSMUST00000217313]
Predicted Effect probably benign
Transcript: ENSMUST00000060204
AA Change: I223L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000052730
Gene: ENSMUSG00000051046
AA Change: I223L

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122096
SMART Domains Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906

DomainStartEndE-ValueType
DEXDc 57 254 2.4e-59 SMART
HELICc 291 372 6.6e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203867
AA Change: I223L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046
AA Change: I223L

DomainStartEndE-ValueType
Pfam:7tm_4 39 316 4.7e-47 PFAM
Pfam:7tm_1 49 298 5.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214699
AA Change: I223L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000215846
AA Change: I223L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000217313
AA Change: I223L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Csl G A 10: 99,758,813 T130I probably benign Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Igsf8 T A 1: 172,319,413 probably benign Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Ralbp1 T C 17: 65,859,091 E366G probably damaging Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Ufsp2 T A 8: 45,983,548 M112K probably damaging Het
Wipi2 T A 5: 142,661,032 V208E probably damaging Het
Xkr9 A G 1: 13,684,250 E156G probably benign Het
Other mutations in Olfr214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Olfr214 APN 6 116557066 missense probably benign
IGL01837:Olfr214 APN 6 116556846 nonsense probably null
R0027:Olfr214 UTSW 6 116556949 missense probably damaging 0.99
R0616:Olfr214 UTSW 6 116556928 missense probably benign 0.00
R1121:Olfr214 UTSW 6 116557229 missense probably damaging 0.99
R1555:Olfr214 UTSW 6 116556826 missense probably damaging 1.00
R1691:Olfr214 UTSW 6 116556577 missense probably benign 0.00
R2196:Olfr214 UTSW 6 116556617 missense probably damaging 0.99
R3080:Olfr214 UTSW 6 116557217 missense probably damaging 0.98
R5416:Olfr214 UTSW 6 116557205 missense probably damaging 1.00
R5706:Olfr214 UTSW 6 116557113 missense probably damaging 1.00
R6848:Olfr214 UTSW 6 116556775 missense probably damaging 0.98
R7425:Olfr214 UTSW 6 116556437 missense possibly damaging 0.95
R8059:Olfr214 UTSW 6 116556473 missense possibly damaging 0.47
Posted On2015-04-16