Incidental Mutation 'IGL03324:Olfr1216'
ID416570
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1216
Ensembl Gene ENSMUSG00000075107
Gene Nameolfactory receptor 1216
SynonymsGA_x6K02T2Q125-50494588-50493653, MOR233-9
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL03324
Quality Score
Status
Chromosome2
Chromosomal Location89007563-89018340 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 89013559 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 168 (C168*)
Ref Sequence ENSEMBL: ENSMUSP00000149441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099800] [ENSMUST00000216000] [ENSMUST00000217000]
Predicted Effect probably null
Transcript: ENSMUST00000099800
AA Change: C168*
SMART Domains Protein: ENSMUSP00000097388
Gene: ENSMUSG00000075107
AA Change: C168*

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-46 PFAM
Pfam:7tm_1 39 286 4.2e-17 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000216000
AA Change: C168*
Predicted Effect probably null
Transcript: ENSMUST00000217000
AA Change: C168*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218738
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik A G 5: 145,045,451 E282G probably benign Het
Abca12 T A 1: 71,314,008 K758N probably benign Het
Acacb A T 5: 114,225,854 R1459* probably null Het
Aco1 A G 4: 40,186,363 T592A probably benign Het
Aldh2 C T 5: 121,575,125 G256D probably benign Het
Apbb2 A T 5: 66,312,157 probably null Het
Apoe A T 7: 19,696,537 I260K probably benign Het
Cep89 G A 7: 35,424,653 probably benign Het
Coq3 A G 4: 21,900,361 D196G probably benign Het
Crispld2 C T 8: 120,015,371 R153W probably damaging Het
Enox1 A G 14: 77,615,485 E397G probably damaging Het
Gpatch1 A G 7: 35,299,280 Y342H probably damaging Het
Gpatch1 T A 7: 35,293,695 E575V possibly damaging Het
Grid2 T C 6: 64,429,822 V722A possibly damaging Het
Hsh2d T C 8: 72,193,512 F18L probably damaging Het
Htra2 C T 6: 83,053,756 D190N probably damaging Het
Lrfn2 A G 17: 49,070,887 N332S probably damaging Het
Naa10 C T X: 73,919,962 probably null Het
Nlrp4f T C 13: 65,195,228 E179G possibly damaging Het
Olfr125 G A 17: 37,835,274 G92S probably benign Het
Olfr62 T A 4: 118,665,872 F118L probably benign Het
Prss46 T A 9: 110,849,679 N46K probably benign Het
Rep15 A C 6: 147,032,665 M1L possibly damaging Het
Slc10a4 G T 5: 73,011,943 A105S probably damaging Het
Slc26a9 A T 1: 131,764,010 T664S probably damaging Het
Stxbp3-ps A T 19: 9,558,350 noncoding transcript Het
Tmf1 C A 6: 97,163,653 R754L probably damaging Het
Xcr1 T A 9: 123,856,484 Y71F probably benign Het
Yars C T 4: 129,210,535 T324I probably benign Het
Zfp106 A G 2: 120,535,387 S180P probably benign Het
Other mutations in Olfr1216
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Olfr1216 APN 2 89013924 missense probably benign 0.22
IGL00895:Olfr1216 APN 2 89013609 missense probably benign 0.13
IGL01634:Olfr1216 APN 2 89013444 missense probably damaging 0.99
IGL01844:Olfr1216 APN 2 89013470 missense possibly damaging 0.95
IGL02036:Olfr1216 APN 2 89013479 missense probably benign 0.00
IGL02102:Olfr1216 APN 2 89013126 utr 3 prime probably benign
IGL02194:Olfr1216 APN 2 89013887 missense probably damaging 1.00
IGL02483:Olfr1216 APN 2 89013203 missense probably damaging 1.00
IGL02745:Olfr1216 APN 2 89013888 missense probably damaging 1.00
IGL02829:Olfr1216 APN 2 89013677 missense probably damaging 1.00
IGL03113:Olfr1216 APN 2 89014035 missense probably damaging 1.00
R0102:Olfr1216 UTSW 2 89013671 missense probably damaging 1.00
R0304:Olfr1216 UTSW 2 89013288 missense probably damaging 1.00
R1184:Olfr1216 UTSW 2 89013713 missense probably damaging 0.99
R1484:Olfr1216 UTSW 2 89013369 nonsense probably null
R1560:Olfr1216 UTSW 2 89013206 missense probably damaging 1.00
R1823:Olfr1216 UTSW 2 89013378 missense probably benign 0.02
R1911:Olfr1216 UTSW 2 89013221 missense probably damaging 1.00
R2245:Olfr1216 UTSW 2 89013149 missense probably benign
R2331:Olfr1216 UTSW 2 89013921 missense probably benign
R3859:Olfr1216 UTSW 2 89014061 start codon destroyed probably null 1.00
R4579:Olfr1216 UTSW 2 89013144 missense probably benign
R5022:Olfr1216 UTSW 2 89014043 missense probably damaging 0.96
R5353:Olfr1216 UTSW 2 89013755 missense probably benign 0.00
R5894:Olfr1216 UTSW 2 89014055 missense probably damaging 1.00
R6240:Olfr1216 UTSW 2 89013626 missense probably benign 0.03
R7101:Olfr1216 UTSW 2 89013980 missense possibly damaging 0.90
R7652:Olfr1216 UTSW 2 89013549 missense probably benign 0.01
R8243:Olfr1216 UTSW 2 89013707 missense probably benign 0.39
R8752:Olfr1216 UTSW 2 89013887 missense probably damaging 1.00
Posted On2016-08-02