Incidental Mutation 'R5405:Or14c43'
ID 428671
Institutional Source Beutler Lab
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: 0.126) question?
Stock # R5405 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 86114621-86115613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86115383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 255 (Y255H)
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: Y255H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000062434
Gene: ENSMUSG00000020168
AA Change: Y255H

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: Y255H

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A T 6: 86,078,179 (GRCm39) T298S probably benign Het
Atad2b G A 12: 4,990,098 (GRCm39) R141Q possibly damaging Het
B3glct A G 5: 149,632,818 (GRCm39) Q56R probably damaging Het
Cdc42bpa A G 1: 179,894,894 (GRCm39) Y358C probably damaging Het
Cdc42bpa A G 1: 179,966,085 (GRCm39) E1136G possibly damaging Het
Ceacam1 A T 7: 25,163,290 (GRCm39) N314K probably benign Het
Ces1g A T 8: 94,032,496 (GRCm39) I488N probably benign Het
Chd6 C T 2: 160,807,310 (GRCm39) R1968K probably benign Het
Cyp27b1 C T 10: 126,886,255 (GRCm39) T312I possibly damaging Het
Cyp39a1 C T 17: 43,987,831 (GRCm39) A99V probably damaging Het
Dipk1a C T 5: 108,057,827 (GRCm39) V199I probably benign Het
Dnaaf9 A G 2: 130,554,380 (GRCm39) S890P probably damaging Het
Efcab3 A T 11: 104,612,018 (GRCm39) D620V probably benign Het
Elapor1 A T 3: 108,375,102 (GRCm39) C588* probably null Het
Erc1 A T 6: 119,801,905 (GRCm39) S37R probably damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Gm14443 T C 2: 175,013,644 (GRCm39) I43V possibly damaging Het
Ins2 C T 7: 142,233,134 (GRCm39) R46H probably damaging Het
Krt77 T C 15: 101,769,523 (GRCm39) I413V probably damaging Het
Lpin3 A G 2: 160,745,849 (GRCm39) D660G probably damaging Het
Mpp3 T C 11: 101,901,047 (GRCm39) Q318R probably benign Het
Mpzl2 T C 9: 44,958,503 (GRCm39) S80P probably damaging Het
Mrpl2 T C 17: 46,960,036 (GRCm39) probably null Het
Mrpl48 T C 7: 100,209,000 (GRCm39) Y108C probably damaging Het
Ndufaf7 C A 17: 79,246,044 (GRCm39) F92L probably damaging Het
Or6c8 T A 10: 128,915,265 (GRCm39) D189V probably damaging Het
Rec114 T C 9: 58,567,624 (GRCm39) S121G probably benign Het
Rnase10 A T 14: 51,247,317 (GRCm39) I195F probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rreb1 A G 13: 38,133,087 (GRCm39) E1754G probably damaging Het
Sec31a G T 5: 100,531,657 (GRCm39) C238* probably null Het
Slc12a6 T C 2: 112,169,724 (GRCm39) V337A probably damaging Het
Slc25a37 A G 14: 69,482,344 (GRCm39) V319A possibly damaging Het
Slc26a10 T C 10: 127,010,864 (GRCm39) Y456C probably benign Het
Slc27a3 G A 3: 90,294,382 (GRCm39) T463I probably benign Het
Slc66a3 A G 12: 17,043,315 (GRCm39) probably benign Het
Stard9 T A 2: 120,524,149 (GRCm39) D781E probably benign Het
Tle1 T C 4: 72,057,208 (GRCm39) probably benign Het
Tmem229b-ps T C 10: 53,351,325 (GRCm39) noncoding transcript Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r71 A G 7: 85,268,622 (GRCm39) D275G probably benign Het
Wdr1 T C 5: 38,692,543 (GRCm39) T121A probably benign Het
Zdhhc19 C T 16: 32,325,869 (GRCm39) R240C possibly damaging Het
Other mutations in Or14c43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01322:Or14c43 APN 7 86,115,480 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- ACTCTTAATGCTAATCTCTGCCA -3'
(R):5'- AGGGAAAATGCTTTGTAGGGTT -3'

Sequencing Primer
(F):5'- GCCATTATCATTGGTTGCAGC -3'
(R):5'- CCTGTGTGTCTGTGCATAAATATTTC -3'
Posted On 2016-09-06