Incidental Mutation 'IGL01322:Or14c43'
ID 74090
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or14c43
Ensembl Gene ENSMUSG00000020168
Gene Name olfactory receptor family 14 subfamily C member 43
Synonyms GA_x6K02T2NHDJ-9643949-9642957, Olfr299, MOR221-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL01322
Quality Score
Status
Chromosome 7
Chromosomal Location 86114621-86115613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86115480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 287 (I287N)
Ref Sequence ENSEMBL: ENSMUSP00000149038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057734] [ENSMUST00000217253]
AlphaFold Q7TS05
Predicted Effect probably damaging
Transcript: ENSMUST00000057734
AA Change: I287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062434
Gene: ENSMUSG00000020168
AA Change: I287N

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 4.7e-46 PFAM
Pfam:7tm_1 39 289 4.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217253
AA Change: I287N

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,038,422 (GRCm39) L368Q probably damaging Het
Abca2 T A 2: 25,336,794 (GRCm39) probably null Het
Ano7 T A 1: 93,323,230 (GRCm39) V497D probably benign Het
B4gat1 T C 19: 5,090,037 (GRCm39) Y345H probably damaging Het
Bckdha T A 7: 25,358,132 (GRCm39) R12W possibly damaging Het
Bcl7c T A 7: 127,306,608 (GRCm39) N93Y probably damaging Het
Cc2d2a C A 5: 43,846,345 (GRCm39) T368K probably benign Het
Chek1 G A 9: 36,629,717 (GRCm39) Q210* probably null Het
Chrdl2 A G 7: 99,666,248 (GRCm39) Y56C probably damaging Het
Cspg4 T A 9: 56,805,872 (GRCm39) F2228I probably damaging Het
Dnah7a T C 1: 53,473,205 (GRCm39) M3474V probably benign Het
Dph7 T C 2: 24,855,629 (GRCm39) S143P possibly damaging Het
Ehbp1 T A 11: 22,039,636 (GRCm39) K821N probably damaging Het
Eomes T C 9: 118,313,898 (GRCm39) S648P probably benign Het
Fam20a A G 11: 109,573,738 (GRCm39) V215A probably damaging Het
Fer1l4 T A 2: 155,862,259 (GRCm39) probably null Het
Frem2 A G 3: 53,448,459 (GRCm39) V2319A probably benign Het
Gtf3c4 T C 2: 28,723,584 (GRCm39) D575G probably benign Het
Ifit1bl2 A G 19: 34,596,404 (GRCm39) V404A probably benign Het
Kcnf1 T C 12: 17,225,349 (GRCm39) M291V probably benign Het
Klra1 T A 6: 130,341,224 (GRCm39) I250F probably benign Het
Klra4 T A 6: 130,038,985 (GRCm39) T136S probably benign Het
Mcrs1 A T 15: 99,141,266 (GRCm39) I399N probably damaging Het
Neo1 T C 9: 58,814,368 (GRCm39) E866G possibly damaging Het
Notch3 T C 17: 32,363,445 (GRCm39) D1206G probably damaging Het
Or10ab4 A G 7: 107,654,188 (GRCm39) probably benign Het
Or4z4 A C 19: 12,076,769 (GRCm39) V78G probably benign Het
Or5ae1 T A 7: 84,565,590 (GRCm39) V201E probably damaging Het
Or5b95 A C 19: 12,658,113 (GRCm39) I214L probably benign Het
Or6c210 A G 10: 129,495,995 (GRCm39) T107A probably benign Het
Pnkd A G 1: 74,390,716 (GRCm39) N336D probably damaging Het
Prag1 T C 8: 36,571,088 (GRCm39) V557A probably benign Het
Ptgfr A C 3: 151,541,323 (GRCm39) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm39) Y220C probably damaging Het
Sufu G A 19: 46,439,382 (GRCm39) E246K probably damaging Het
Sult2a1 T A 7: 13,566,604 (GRCm39) R124* probably null Het
Sult4a1 T A 15: 83,970,817 (GRCm39) Y196F possibly damaging Het
Trim15 G A 17: 37,175,975 (GRCm39) R191W probably damaging Het
Ttn A G 2: 76,773,319 (GRCm39) V2361A possibly damaging Het
Usp16 T C 16: 87,263,164 (GRCm39) V122A possibly damaging Het
Vmn1r122 T A 7: 20,868,036 (GRCm39) K6N probably benign Het
Vmn1r34 G A 6: 66,613,899 (GRCm39) Q280* probably null Het
Vmn2r45 T A 7: 8,484,332 (GRCm39) H491L possibly damaging Het
Wdpcp T C 11: 21,661,949 (GRCm39) L407P probably damaging Het
Zfp157 T C 5: 138,445,840 (GRCm39) I65T probably benign Het
Other mutations in Or14c43
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1300:Or14c43 UTSW 7 86,114,951 (GRCm39) missense probably benign
R1580:Or14c43 UTSW 7 86,114,658 (GRCm39) missense probably benign 0.00
R1653:Or14c43 UTSW 7 86,115,420 (GRCm39) missense probably benign 0.01
R2183:Or14c43 UTSW 7 86,115,594 (GRCm39) missense probably benign
R2190:Or14c43 UTSW 7 86,115,573 (GRCm39) missense possibly damaging 0.78
R4839:Or14c43 UTSW 7 86,115,117 (GRCm39) missense probably damaging 1.00
R5405:Or14c43 UTSW 7 86,115,383 (GRCm39) missense probably damaging 1.00
R6458:Or14c43 UTSW 7 86,114,888 (GRCm39) missense probably damaging 0.99
R6783:Or14c43 UTSW 7 86,114,835 (GRCm39) missense probably damaging 0.99
R6902:Or14c43 UTSW 7 86,114,995 (GRCm39) nonsense probably null
R7449:Or14c43 UTSW 7 86,115,063 (GRCm39) missense probably benign 0.32
R8217:Or14c43 UTSW 7 86,115,390 (GRCm39) missense probably damaging 1.00
R9165:Or14c43 UTSW 7 86,114,825 (GRCm39) missense probably benign 0.25
X0050:Or14c43 UTSW 7 86,114,811 (GRCm39) missense possibly damaging 0.91
Z1088:Or14c43 UTSW 7 86,114,954 (GRCm39) missense possibly damaging 0.52
Posted On 2013-10-07