Incidental Mutation 'R1580:Or14c43'
ID 171355
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
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 86114621-86115613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86114658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 13 (E13G)
Ref Sequence ENSEMBL: ENSMUSP00000149038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057734] [ENSMUST00000217253]
AlphaFold Q7TS05
Predicted Effect probably benign
Transcript: ENSMUST00000057734
AA Change: E13G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062434
Gene: ENSMUSG00000020168
AA Change: E13G

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 4.7e-46 PFAM
Pfam:7tm_1 39 289 4.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217253
AA Change: E13G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Cyp3a16 T A 5: 145,378,884 (GRCm39) K379I possibly damaging Het
Cyp3a16 T C 5: 145,378,885 (GRCm39) K379E probably damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G 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
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
Predicted Primers PCR Primer
(F):5'- CTCGTGAATGCAAGATTGAATGTGCC -3'
(R):5'- TGCACACCCAGTCACAGAAATATTCC -3'

Sequencing Primer
(F):5'- gatagatagatagatggatggatggg -3'
(R):5'- CAAGCATTTGGGACAGTGAC -3'
Posted On 2014-04-13