Incidental Mutation 'R8217:Or14c43'
ID 636419
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 067658-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8217 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 86114621-86115613 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86115390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 257 (Y257C)
Ref Sequence ENSEMBL: ENSMUSP00000062434 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057734]
AlphaFold Q7TS05
Predicted Effect probably damaging
Transcript: ENSMUST00000057734
AA Change: Y257C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062434
Gene: ENSMUSG00000020168
AA Change: Y257C

DomainStartEndE-ValueType
Pfam:7tm_4 29 307 4.7e-46 PFAM
Pfam:7tm_1 39 289 4.7e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency 98% (48/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acrbp T C 6: 125,037,921 (GRCm39) L406P probably damaging Het
Aph1b T C 9: 66,686,554 (GRCm39) K239E possibly damaging Het
Atp13a4 C A 16: 29,222,619 (GRCm39) V1102F Het
B3gat1 G A 9: 26,668,165 (GRCm39) A265T probably damaging Het
Bod1l T C 5: 41,988,850 (GRCm39) E419G probably damaging Het
Ccdc142 T C 6: 83,080,197 (GRCm39) L380P probably damaging Het
Cd55b CTTTT CTTTTT 1: 130,347,337 (GRCm39) probably null Het
Cfi A C 3: 129,648,650 (GRCm39) N178T possibly damaging Het
Col5a1 T A 2: 27,812,135 (GRCm39) D72E unknown Het
Cspg4 T A 9: 56,797,637 (GRCm39) V1367D possibly damaging Het
D5Ertd579e A C 5: 36,771,402 (GRCm39) S998A probably benign Het
Ehf T C 2: 103,109,976 (GRCm39) E77G possibly damaging Het
Erap1 T C 13: 74,820,937 (GRCm39) I662T probably benign Het
F11r GGTGTG GGTGTGTG 1: 171,290,656 (GRCm39) probably null Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Klhl8 A G 5: 104,015,466 (GRCm39) V486A possibly damaging Het
Lrrc72 A T 12: 36,258,676 (GRCm39) D60E probably damaging Het
Marchf5 C T 19: 37,185,210 (GRCm39) probably benign Het
Mtmr12 T C 15: 12,259,726 (GRCm39) I365T possibly damaging Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nod2 A C 8: 89,390,785 (GRCm39) D364A probably benign Het
Numa1 T A 7: 101,641,876 (GRCm39) M108K possibly damaging Het
Nutm2 G T 13: 50,623,759 (GRCm39) R152L probably benign Het
Or2t46 A T 11: 58,471,792 (GRCm39) M41L probably benign Het
Or8k17 C T 2: 86,066,862 (GRCm39) V106M probably benign Het
Pak1ip1 T A 13: 41,166,126 (GRCm39) S350R probably benign Het
Pcdha3 T C 18: 37,079,974 (GRCm39) F239L probably damaging Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pkm C T 9: 59,586,092 (GRCm39) T524I possibly damaging Het
Plekhg2 T A 7: 28,067,717 (GRCm39) Q245L probably null Het
Pola2 T A 19: 6,013,855 (GRCm39) K26N possibly damaging Het
Prune2 G T 19: 17,097,480 (GRCm39) A995S probably benign Het
Rap2b C A 3: 61,272,551 (GRCm39) T25K possibly damaging Het
Scrib A G 15: 75,939,004 (GRCm39) S165P probably damaging Het
Sdk1 A T 5: 142,197,713 (GRCm39) H2122L possibly damaging Het
Sec24b A T 3: 129,834,599 (GRCm39) F200I possibly damaging Het
Sh3rf1 T C 8: 61,782,964 (GRCm39) V226A possibly damaging Het
Sik1 T A 17: 32,070,286 (GRCm39) H141L probably damaging Het
Slc9a5 A T 8: 106,089,956 (GRCm39) E638V probably damaging Het
Slco1a5 A G 6: 142,221,202 (GRCm39) C15R probably benign Het
Slit1 C T 19: 41,612,959 (GRCm39) D854N possibly damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tec A T 5: 72,921,602 (GRCm39) M372K probably benign Het
Tlr2 A G 3: 83,745,373 (GRCm39) F237L probably benign Het
Trio A T 15: 27,819,055 (GRCm39) L1597Q probably damaging Het
Trpa1 A T 1: 14,957,247 (GRCm39) M723K probably damaging Het
Ttc21a T C 9: 119,783,694 (GRCm39) I592T probably benign Het
Vmn2r94 T C 17: 18,463,986 (GRCm39) E768G probably damaging Het
Zfhx3 A G 8: 109,677,349 (GRCm39) T2800A probably benign Het
Zpld1 A G 16: 55,047,295 (GRCm39) probably null 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
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
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'- CTGCCATTATCATTGGTTGCAG -3'
(R):5'- AGGGAAAATGCTTTGTAGGGT -3'

Sequencing Primer
(F):5'- ATCATTGGTTGCAGCTGCTTTAC -3'
(R):5'- CCTGTGTGTCTGTGCATAAATATTTC -3'
Posted On 2020-07-13