Incidental Mutation 'IGL02750:Or14a260'
ID 306255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14a260
Ensembl Gene ENSMUSG00000055610
Gene Name olfactory receptor family 14 subfamily A member 260
Synonyms Olfr307, GA_x6K02T2NHDJ-9772012-9772953, MOR219-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.116) question?
Stock # IGL02750
Quality Score
Status
Chromosome 7
Chromosomal Location 85984661-85985602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 85984752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 284 (N284I)
Ref Sequence ENSEMBL: ENSMUSP00000149779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069279] [ENSMUST00000213705] [ENSMUST00000217494]
AlphaFold Q8VFN8
Predicted Effect probably damaging
Transcript: ENSMUST00000069279
AA Change: N284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063538
Gene: ENSMUSG00000055610
AA Change: N284I

DomainStartEndE-ValueType
low complexity region 5 16 N/A INTRINSIC
Pfam:7tm_4 29 306 1.6e-42 PFAM
Pfam:7tm_1 39 288 9.8e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213705
AA Change: N284I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217494
AA Change: N284I

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl1 T C 9: 14,460,087 (GRCm39) K884R probably benign Het
Ano3 T A 2: 110,496,329 (GRCm39) probably benign Het
Baz2b C A 2: 59,799,002 (GRCm39) S374I possibly damaging Het
Brd4 G A 17: 32,417,353 (GRCm39) probably benign Het
Cd3g C A 9: 44,882,608 (GRCm39) probably benign Het
Ckmt1 C T 2: 121,194,096 (GRCm39) probably benign Het
Clcnkb T C 4: 141,132,673 (GRCm39) probably null Het
Dkkl1 C T 7: 44,859,536 (GRCm39) probably null Het
Ehmt1 G A 2: 24,753,881 (GRCm39) T161I probably damaging Het
Ern2 A G 7: 121,780,629 (GRCm39) probably benign Het
Fmnl2 T C 2: 52,993,709 (GRCm39) I368T possibly damaging Het
Gabra5 G T 7: 57,157,739 (GRCm39) S25Y probably benign Het
Gemin7 C T 7: 19,299,344 (GRCm39) V84M probably null Het
Gm17654 A G 14: 43,815,656 (GRCm39) probably benign Het
Grk6 T C 13: 55,599,356 (GRCm39) F186S probably damaging Het
Gtf2ird2 A G 5: 134,245,731 (GRCm39) H663R probably damaging Het
Gtf3c1 T A 7: 125,275,684 (GRCm39) I581F probably damaging Het
Herc2 T A 7: 55,854,127 (GRCm39) probably benign Het
Hook3 A T 8: 26,585,782 (GRCm39) probably benign Het
Ints4 T A 7: 97,166,964 (GRCm39) probably null Het
Kpna6 T C 4: 129,555,170 (GRCm39) N20D probably damaging Het
Krtap29-1 T C 11: 99,869,510 (GRCm39) S124G probably benign Het
Krtap4-16 C A 11: 99,742,106 (GRCm39) R98L possibly damaging Het
Lrrc28 T C 7: 67,181,431 (GRCm39) D268G probably damaging Het
Mcm6 T A 1: 128,271,209 (GRCm39) Q470L probably damaging Het
Neb T C 2: 52,181,067 (GRCm39) H1180R probably benign Het
Nxpe3 C A 16: 55,680,738 (GRCm39) V285L probably benign Het
Or10al2 T A 17: 37,983,500 (GRCm39) C195* probably null Het
Or4k37 A G 2: 111,159,633 (GRCm39) R290G probably damaging Het
Pdcd1 A G 1: 93,967,269 (GRCm39) probably benign Het
Pnkp A G 7: 44,509,611 (GRCm39) probably benign Het
Pou4f2 A T 8: 79,161,692 (GRCm39) F304I probably damaging Het
Rita1 G A 5: 120,747,716 (GRCm39) T194M possibly damaging Het
Rnpc3 T C 3: 113,415,588 (GRCm39) T150A possibly damaging Het
Sema3b T C 9: 107,480,363 (GRCm39) T168A probably benign Het
Skint5 T A 4: 113,396,559 (GRCm39) M1205L unknown Het
Sox13 A C 1: 133,311,534 (GRCm39) I566S probably benign Het
Tbc1d32 T C 10: 56,074,587 (GRCm39) T209A possibly damaging Het
Tonsl G T 15: 76,517,589 (GRCm39) P710Q probably damaging Het
Trpm5 T C 7: 142,628,221 (GRCm39) H1018R possibly damaging Het
Ubr2 A T 17: 47,280,208 (GRCm39) M647K probably benign Het
Ubr7 A T 12: 102,737,537 (GRCm39) T395S possibly damaging Het
Uri1 G A 7: 37,666,906 (GRCm39) R176* probably null Het
Vmn1r188 A T 13: 22,272,900 (GRCm39) I285F probably damaging Het
Vmn2r116 T A 17: 23,616,608 (GRCm39) probably benign Het
Vmn2r2 C A 3: 64,024,823 (GRCm39) C586F probably damaging Het
Vmn2r96 T A 17: 18,802,851 (GRCm39) W62R probably benign Het
Zfp24 A T 18: 24,150,410 (GRCm39) S167T possibly damaging Het
Zfp462 A G 4: 55,060,236 (GRCm39) K1254R probably null Het
Other mutations in Or14a260
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Or14a260 APN 7 85,985,269 (GRCm39) missense probably benign 0.00
IGL02419:Or14a260 APN 7 85,984,870 (GRCm39) missense probably damaging 0.98
IGL02519:Or14a260 APN 7 85,984,789 (GRCm39) missense probably benign 0.01
R0123:Or14a260 UTSW 7 85,984,803 (GRCm39) missense probably benign 0.02
R0134:Or14a260 UTSW 7 85,984,803 (GRCm39) missense probably benign 0.02
R0225:Or14a260 UTSW 7 85,984,803 (GRCm39) missense probably benign 0.02
R1025:Or14a260 UTSW 7 85,985,113 (GRCm39) missense probably benign 0.09
R1511:Or14a260 UTSW 7 85,985,553 (GRCm39) missense possibly damaging 0.49
R1674:Or14a260 UTSW 7 85,984,765 (GRCm39) missense probably damaging 1.00
R2011:Or14a260 UTSW 7 85,984,955 (GRCm39) nonsense probably null
R4588:Or14a260 UTSW 7 85,984,852 (GRCm39) missense probably benign 0.00
R5637:Or14a260 UTSW 7 85,984,812 (GRCm39) missense probably benign 0.00
R6163:Or14a260 UTSW 7 85,985,592 (GRCm39) missense possibly damaging 0.84
R6407:Or14a260 UTSW 7 85,985,277 (GRCm39) missense possibly damaging 0.90
R7342:Or14a260 UTSW 7 85,985,295 (GRCm39) missense probably benign 0.00
R8066:Or14a260 UTSW 7 85,985,014 (GRCm39) missense probably benign 0.00
R8155:Or14a260 UTSW 7 85,985,386 (GRCm39) missense probably damaging 1.00
R8158:Or14a260 UTSW 7 85,984,885 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16