Incidental Mutation 'IGL02754:Or1n1'
ID 306333
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or1n1
Ensembl Gene ENSMUSG00000075383
Gene Name olfactory receptor family 1 subfamily N member 1
Synonyms Olfr351, MOR127-2, GA_x6K02T2NLDC-33554926-33553994
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02754
Quality Score
Status
Chromosome 2
Chromosomal Location 36749426-36750358 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 36750232 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 43 (I43F)
Ref Sequence ENSEMBL: ENSMUSP00000150346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100150] [ENSMUST00000213676] [ENSMUST00000215137]
AlphaFold Q8VGK1
Predicted Effect probably damaging
Transcript: ENSMUST00000100150
AA Change: I43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097727
Gene: ENSMUSG00000075383
AA Change: I43F

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.7e-56 PFAM
Pfam:7tm_1 39 288 5.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213676
AA Change: I43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215137
AA Change: I43F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,507,922 (GRCm39) R405* probably null Het
AW551984 C T 9: 39,504,624 (GRCm39) probably null Het
Bdp1 T C 13: 100,197,481 (GRCm39) E968G possibly damaging Het
Ccdc68 T C 18: 70,076,935 (GRCm39) probably null Het
Ccdc87 T A 19: 4,889,889 (GRCm39) L127H probably damaging Het
Cdk5r1 G T 11: 80,368,569 (GRCm39) A79S probably benign Het
Cdyl A T 13: 35,867,725 (GRCm39) probably benign Het
Cfdp1 A G 8: 112,580,766 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,111,339 (GRCm39) I62F probably damaging Het
Cnot1 A T 8: 96,481,706 (GRCm39) I789K probably benign Het
Cobl T C 11: 12,204,371 (GRCm39) K695R probably damaging Het
Cobl C A 11: 12,204,370 (GRCm39) K752N probably damaging Het
Cstdc5 G A 16: 36,179,899 (GRCm39) P73S probably benign Het
Dcaf6 T C 1: 165,165,915 (GRCm39) probably null Het
Ece2 A T 16: 20,451,398 (GRCm39) I197F probably damaging Het
Eif2b5 T G 16: 20,321,536 (GRCm39) V363G possibly damaging Het
Gca T C 2: 62,502,702 (GRCm39) S37P probably benign Het
Ghsr A C 3: 27,426,645 (GRCm39) I234L probably damaging Het
Grin3b A T 10: 79,808,723 (GRCm39) I158F possibly damaging Het
Gtf2h2 A T 13: 100,617,747 (GRCm39) D178E probably damaging Het
Herc2 A G 7: 55,747,246 (GRCm39) E461G probably damaging Het
Hsph1 T A 5: 149,547,057 (GRCm39) N531I possibly damaging Het
Insl6 G T 19: 29,302,529 (GRCm39) Q63K probably benign Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lvrn C T 18: 47,023,971 (GRCm39) Q773* probably null Het
Mterf1b T C 5: 4,246,478 (GRCm39) F40L possibly damaging Het
Nrg1 G A 8: 32,316,391 (GRCm39) probably benign Het
Or10ak13 T A 4: 118,639,117 (GRCm39) I222F possibly damaging Het
Or5p79 T C 7: 108,221,880 (GRCm39) I287T possibly damaging Het
Pax5 C T 4: 44,570,059 (GRCm39) V319I probably damaging Het
Plcz1 T A 6: 139,956,307 (GRCm39) T321S probably benign Het
Plekha6 A G 1: 133,212,676 (GRCm39) E660G probably damaging Het
Prep T C 10: 44,943,428 (GRCm39) M1T probably null Het
Prickle1 C T 15: 93,399,034 (GRCm39) S598N possibly damaging Het
Prtn3 A G 10: 79,716,932 (GRCm39) Q99R probably benign Het
Rad50 A G 11: 53,592,883 (GRCm39) V89A probably damaging Het
Ret T C 6: 118,153,213 (GRCm39) Y485C probably benign Het
Setd2 T A 9: 110,379,124 (GRCm39) F980I possibly damaging Het
Slc44a4 A G 17: 35,140,279 (GRCm39) Y228C probably damaging Het
Tex10 C T 4: 48,435,028 (GRCm39) C779Y possibly damaging Het
Tfdp2 T G 9: 96,199,592 (GRCm39) S285A probably benign Het
Thsd4 T A 9: 59,896,380 (GRCm39) probably benign Het
Tmem106a A C 11: 101,481,219 (GRCm39) E242D probably benign Het
Ttc22 T C 4: 106,495,669 (GRCm39) V341A probably benign Het
Ubr4 T A 4: 139,138,095 (GRCm39) S1151T probably damaging Het
Ubr4 G A 4: 139,120,470 (GRCm39) probably null Het
Vmn1r206 A T 13: 22,805,060 (GRCm39) L49* probably null Het
Vmn1r233 A T 17: 21,214,887 (GRCm39) F21Y probably benign Het
Vmn1r233 A T 17: 21,214,886 (GRCm39) F21L probably benign Het
Vmn2r15 A T 5: 109,441,134 (GRCm39) C241* probably null Het
Zmym6 T A 4: 127,003,764 (GRCm39) probably benign Het
Other mutations in Or1n1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Or1n1 APN 2 36,749,787 (GRCm39) missense probably benign 0.04
IGL02481:Or1n1 APN 2 36,749,830 (GRCm39) missense probably damaging 0.96
IGL02673:Or1n1 APN 2 36,750,188 (GRCm39) missense probably benign 0.25
P0041:Or1n1 UTSW 2 36,749,473 (GRCm39) missense probably damaging 1.00
R1392:Or1n1 UTSW 2 36,750,187 (GRCm39) missense probably damaging 1.00
R1392:Or1n1 UTSW 2 36,750,187 (GRCm39) missense probably damaging 1.00
R2271:Or1n1 UTSW 2 36,749,637 (GRCm39) missense probably damaging 1.00
R2274:Or1n1 UTSW 2 36,750,113 (GRCm39) missense probably damaging 0.99
R3053:Or1n1 UTSW 2 36,749,959 (GRCm39) missense probably benign 0.06
R4712:Or1n1 UTSW 2 36,750,381 (GRCm39) splice site probably null
R5001:Or1n1 UTSW 2 36,750,082 (GRCm39) missense probably benign 0.00
R5364:Or1n1 UTSW 2 36,750,006 (GRCm39) missense probably damaging 1.00
R5502:Or1n1 UTSW 2 36,750,282 (GRCm39) missense probably damaging 0.98
R6048:Or1n1 UTSW 2 36,749,853 (GRCm39) missense probably benign 0.00
R6401:Or1n1 UTSW 2 36,750,177 (GRCm39) nonsense probably null
R7353:Or1n1 UTSW 2 36,749,680 (GRCm39) nonsense probably null
R7798:Or1n1 UTSW 2 36,750,348 (GRCm39) missense probably benign 0.01
R7934:Or1n1 UTSW 2 36,750,228 (GRCm39) missense possibly damaging 0.73
R8725:Or1n1 UTSW 2 36,749,610 (GRCm39) missense probably damaging 1.00
R8842:Or1n1 UTSW 2 36,749,539 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16