Incidental Mutation 'R2183:Or14c43'
ID 237291
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 040185-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.126) question?
Stock # R2183 (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 A at 86115594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 325 (V325E)
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: V325E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062434
Gene: ENSMUSG00000020168
AA Change: V325E

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: V325E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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
Atf7 T C 15: 102,454,908 (GRCm39) T287A possibly damaging Het
Atg9b C T 5: 24,595,491 (GRCm39) A263T probably benign Het
Cc2d1a A T 8: 84,867,028 (GRCm39) H371Q probably damaging Het
Ccdc39 T C 3: 33,875,581 (GRCm39) N537S possibly damaging Het
Cdc6 A T 11: 98,799,524 (GRCm39) K17* probably null Het
Cemip2 G A 19: 21,801,157 (GRCm39) R758Q possibly damaging Het
Cenpk T C 13: 104,370,671 (GRCm39) M64T probably damaging Het
Dhx57 T A 17: 80,582,760 (GRCm39) T282S probably benign Het
Frem1 G A 4: 82,909,732 (GRCm39) T757I probably benign Het
Gcsh A T 8: 117,715,885 (GRCm39) V66E probably damaging Het
Gdpd1 T C 11: 86,926,102 (GRCm39) N281S probably damaging Het
Hs1bp3 T C 12: 8,371,610 (GRCm39) V97A possibly damaging Het
Ipo11 T C 13: 107,061,595 (GRCm39) T22A probably benign Het
Irag1 A T 7: 110,498,189 (GRCm39) L402Q probably damaging Het
Lama1 A G 17: 68,098,004 (GRCm39) N1795D probably damaging Het
Larp4 T C 15: 99,909,778 (GRCm39) V627A probably benign Het
Lrp8 T C 4: 107,660,462 (GRCm39) C41R probably damaging Het
Mroh2b T A 15: 4,947,707 (GRCm39) probably null Het
Nebl T C 2: 17,409,027 (GRCm39) D357G probably damaging Het
Nrg2 T C 18: 36,329,804 (GRCm39) K137R probably benign Het
Or1j14 C T 2: 36,417,723 (GRCm39) Q100* probably null Het
Or5t7 A T 2: 86,507,380 (GRCm39) M99K probably benign Het
Phc1 C A 6: 122,300,284 (GRCm39) V487L probably damaging Het
Piezo2 A G 18: 63,239,345 (GRCm39) V745A probably damaging Het
Proca1 A T 11: 78,094,975 (GRCm39) H83L possibly damaging Het
Prpf4 G A 4: 62,330,046 (GRCm39) V107I probably damaging Het
Ptprz1 G A 6: 23,002,284 (GRCm39) R1458Q probably benign Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rbsn C A 6: 92,166,618 (GRCm39) L675F probably benign Het
Recql5 T C 11: 115,787,613 (GRCm39) S514G probably benign Het
Scai G A 2: 38,970,138 (GRCm39) T542I probably benign Het
Sftpa1 G T 14: 40,854,823 (GRCm39) D73Y probably damaging Het
Sgms2 A C 3: 131,129,934 (GRCm39) probably null Het
Spart A G 3: 55,024,554 (GRCm39) I50V probably benign Het
Spata7 A T 12: 98,603,871 (GRCm39) K47N probably damaging Het
Tbx18 T A 9: 87,587,789 (GRCm39) T443S probably damaging Het
Tmem130 T C 5: 144,692,242 (GRCm39) D54G possibly damaging Het
Tnip2 TCTCCT TCT 5: 34,656,957 (GRCm39) probably benign Het
Trp53rkb G T 2: 166,635,877 (GRCm39) V73L possibly damaging Het
Wwc2 A T 8: 48,295,961 (GRCm39) L1103H unknown Het
Yes1 T A 5: 32,802,370 (GRCm39) V95E probably damaging Het
Zfp971 T A 2: 177,675,533 (GRCm39) H377Q probably damaging Het
Zzef1 C T 11: 72,777,544 (GRCm39) R1792* 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
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'- AGTTAAGGAGATGGCTCTTTCTG -3'
(R):5'- CTTGTGCCTTGTGCTATTTTCAG -3'

Sequencing Primer
(F):5'- AGATGGCTCTTTCTGTGTCTTATAC -3'
(R):5'- AGTGCTATCATGTTTTATCCTAGAGG -3'
Posted On 2014-10-02