Incidental Mutation 'R2234:Or4c114'
ID 239905
Institutional Source Beutler Lab
Gene Symbol Or4c114
Ensembl Gene ENSMUSG00000075104
Gene Name olfactory receptor family 4 subfamily C member 114
Synonyms GA_x6K02T2Q125-50555603-50554668, MOR233-6, Olfr1219
MMRRC Submission 040235-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R2234 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 88904498-88905433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88904592 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 281 (L281P)
Ref Sequence ENSEMBL: ENSMUSP00000150043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099797] [ENSMUST00000213724] [ENSMUST00000214442] [ENSMUST00000215225] [ENSMUST00000217421]
AlphaFold Q7TR04
Predicted Effect probably damaging
Transcript: ENSMUST00000099797
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097385
Gene: ENSMUSG00000075104
AA Change: L281P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3e-46 PFAM
Pfam:7tm_1 39 286 1.5e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213724
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000214442
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215225
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217421
AA Change: L281P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd6 A G 1: 155,434,454 (GRCm39) D24G probably damaging Het
Adarb1 A G 10: 77,153,183 (GRCm39) V322A probably damaging Het
Akap8l C T 17: 32,557,777 (GRCm39) G37R probably damaging Het
BC035947 A T 1: 78,474,599 (GRCm39) D644E probably damaging Het
Capzb T A 4: 138,989,334 (GRCm39) D85E possibly damaging Het
Cd81 T A 7: 142,620,056 (GRCm39) N71K probably benign Het
Cemip G T 7: 83,647,770 (GRCm39) D103E probably benign Het
Chfr A G 5: 110,318,729 (GRCm39) K580E probably damaging Het
Chrnb1 A T 11: 69,686,428 (GRCm39) I64N probably damaging Het
Clca3a1 G T 3: 144,714,829 (GRCm39) P596Q possibly damaging Het
Cpb1 A T 3: 20,329,629 (GRCm39) D32E probably benign Het
Crh A T 3: 19,748,096 (GRCm39) M182K probably damaging Het
Csta1 C T 16: 35,945,445 (GRCm39) V23I probably damaging Het
Dazap1 A G 10: 80,113,433 (GRCm39) K110E possibly damaging Het
Dhx16 T C 17: 36,198,778 (GRCm39) C737R probably damaging Het
Dync1i2 C T 2: 71,079,764 (GRCm39) Q419* probably null Het
Eml5 A C 12: 98,807,840 (GRCm39) D984E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm12695 C T 4: 96,612,266 (GRCm39) R499Q probably damaging Het
Hid1 A G 11: 115,241,945 (GRCm39) I555T probably damaging Het
Hspa2 A G 12: 76,451,419 (GRCm39) T38A possibly damaging Het
Igf1r T A 7: 67,861,828 (GRCm39) N1129K probably damaging Het
Iglon5 T C 7: 43,130,062 (GRCm39) E34G probably damaging Het
Itprid1 A T 6: 55,874,797 (GRCm39) H249L possibly damaging Het
Kalrn C A 16: 33,996,632 (GRCm39) probably null Het
Kmt2d T C 15: 98,763,129 (GRCm39) D240G probably damaging Het
Lrrc56 T A 7: 140,778,207 (GRCm39) D66E probably damaging Het
Myot A G 18: 44,487,339 (GRCm39) D392G probably damaging Het
Nphp3 G A 9: 103,914,575 (GRCm39) R1052H probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or2d4 C A 7: 106,543,827 (GRCm39) C127F probably damaging Het
Or6z5 T C 7: 6,477,441 (GRCm39) S111P possibly damaging Het
Or7g19 A T 9: 18,856,112 (GRCm39) H56L probably damaging Het
Or8k39 A G 2: 86,563,921 (GRCm39) F12L possibly damaging Het
Pax8 A G 2: 24,333,114 (GRCm39) I77T probably damaging Het
Paxbp1 T C 16: 90,831,822 (GRCm39) I355M probably benign Het
Pds5a A T 5: 65,811,441 (GRCm39) F331I probably damaging Het
Plec A T 15: 76,061,147 (GRCm39) I2952N probably damaging Het
Ppp1r12a A G 10: 108,034,780 (GRCm39) I108M possibly damaging Het
Rabepk A T 2: 34,685,246 (GRCm39) I58N possibly damaging Het
Rnf216 G A 5: 143,076,681 (GRCm39) H68Y probably benign Het
Scap T C 9: 110,210,661 (GRCm39) C998R probably damaging Het
Scgb1b27 T C 7: 33,721,249 (GRCm39) Y46H probably damaging Het
Sf3a2 G T 10: 80,638,663 (GRCm39) A95S probably benign Het
Smg7 A T 1: 152,744,064 (GRCm39) Y40N probably damaging Het
Ssc5d A G 7: 4,946,849 (GRCm39) T1068A probably benign Het
Stambp A G 6: 83,528,960 (GRCm39) S362P probably damaging Het
Tbx18 G T 9: 87,606,403 (GRCm39) S247R probably damaging Het
Tenm3 T C 8: 48,729,204 (GRCm39) I1601V probably benign Het
Thap4 G T 1: 93,652,934 (GRCm39) Q441K probably benign Het
Tmprss11c G T 5: 86,429,945 (GRCm39) T40K probably benign Het
Tnk1 C T 11: 69,746,017 (GRCm39) probably null Het
Trim65 G T 11: 116,021,503 (GRCm39) T110K possibly damaging Het
Uck1 T C 2: 32,148,315 (GRCm39) D167G probably damaging Het
Vmn2r124 A T 17: 18,269,927 (GRCm39) H61L possibly damaging Het
Xpnpep1 T G 19: 53,001,892 (GRCm39) D118A probably damaging Het
Xylt2 C T 11: 94,560,822 (GRCm39) V239M possibly damaging Het
Other mutations in Or4c114
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Or4c114 APN 2 88,904,545 (GRCm39) missense probably benign 0.04
R0437:Or4c114 UTSW 2 88,904,956 (GRCm39) missense probably benign 0.00
R0653:Or4c114 UTSW 2 88,904,808 (GRCm39) missense possibly damaging 0.90
R1637:Or4c114 UTSW 2 88,905,396 (GRCm39) missense probably damaging 1.00
R1837:Or4c114 UTSW 2 88,905,176 (GRCm39) nonsense probably null
R1906:Or4c114 UTSW 2 88,905,414 (GRCm39) missense possibly damaging 0.93
R2351:Or4c114 UTSW 2 88,904,743 (GRCm39) missense possibly damaging 0.74
R2420:Or4c114 UTSW 2 88,905,336 (GRCm39) missense possibly damaging 0.78
R2421:Or4c114 UTSW 2 88,905,336 (GRCm39) missense possibly damaging 0.78
R3438:Or4c114 UTSW 2 88,904,707 (GRCm39) missense probably benign 0.08
R4470:Or4c114 UTSW 2 88,905,382 (GRCm39) missense probably benign 0.01
R4607:Or4c114 UTSW 2 88,904,656 (GRCm39) missense probably benign 0.08
R4608:Or4c114 UTSW 2 88,904,656 (GRCm39) missense probably benign 0.08
R4693:Or4c114 UTSW 2 88,905,412 (GRCm39) missense possibly damaging 0.69
R5382:Or4c114 UTSW 2 88,905,079 (GRCm39) missense probably damaging 1.00
R5460:Or4c114 UTSW 2 88,905,208 (GRCm39) missense probably benign 0.00
R5504:Or4c114 UTSW 2 88,905,024 (GRCm39) missense probably benign 0.00
R6053:Or4c114 UTSW 2 88,904,898 (GRCm39) missense probably damaging 1.00
R7057:Or4c114 UTSW 2 88,904,808 (GRCm39) missense possibly damaging 0.56
R7323:Or4c114 UTSW 2 88,904,811 (GRCm39) missense probably damaging 0.99
R7606:Or4c114 UTSW 2 88,905,641 (GRCm39) start gained probably benign
R8229:Or4c114 UTSW 2 88,905,382 (GRCm39) missense possibly damaging 0.88
T0722:Or4c114 UTSW 2 88,905,303 (GRCm39) missense probably benign 0.07
Z1176:Or4c114 UTSW 2 88,904,782 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GAACCTGTGTACTAGCATTGGATTAAG -3'
(R):5'- TCTCTGAGAGCCCACAGTTC -3'

Sequencing Primer
(F):5'- CTGTGCTCAGTTGCAACACTTAAAG -3'
(R):5'- TCTGAGAGCCCACAGTTCTGAAG -3'
Posted On 2014-10-15