Incidental Mutation 'R7057:Or4c114'
ID 547964
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 045154-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7057 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 88904498-88905433 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88904808 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Serine at position 209 (I209S)
Ref Sequence ENSEMBL: ENSMUSP00000150043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099797] [ENSMUST00000213724] [ENSMUST00000214442] [ENSMUST00000215225] [ENSMUST00000217421]
AlphaFold Q7TR04
Predicted Effect possibly damaging
Transcript: ENSMUST00000099797
AA Change: I209S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097385
Gene: ENSMUSG00000075104
AA Change: I209S

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 3e-46 PFAM
Pfam:7tm_1 39 286 1.5e-16 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213724
AA Change: I209S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214442
AA Change: I209S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000215225
AA Change: I209S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217421
AA Change: I209S

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T A 6: 40,945,181 (GRCm39) V220D probably benign Het
Ankrd1 T C 19: 36,095,633 (GRCm39) E113G possibly damaging Het
Aqp12 T C 1: 92,939,718 (GRCm39) L249P probably damaging Het
Atg4a-ps A G 3: 103,553,296 (GRCm39) F15S possibly damaging Het
Bub1 T A 2: 127,671,447 (GRCm39) M46L probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C2cd4d A G 3: 94,270,800 (GRCm39) H22R probably benign Het
Ccdc157 A G 11: 4,094,586 (GRCm39) V480A probably benign Het
Cdc42ep3 G A 17: 79,642,952 (GRCm39) probably benign Het
Cela1 T A 15: 100,580,774 (GRCm39) T161S possibly damaging Het
Chtf18 G T 17: 25,940,100 (GRCm39) A697E possibly damaging Het
Cr2 T C 1: 194,833,918 (GRCm39) D957G possibly damaging Het
Cyp2c40 A G 19: 39,796,063 (GRCm39) V60A probably damaging Het
Dazl CCATGATGGCGGC CC 17: 50,600,434 (GRCm39) probably null Het
Dock2 A T 11: 34,177,684 (GRCm39) L1824Q probably benign Het
Dock2 T C 11: 34,586,044 (GRCm39) Y546C probably benign Het
Focad G A 4: 88,192,342 (GRCm39) C557Y unknown Het
Ftmt T A 18: 52,465,180 (GRCm39) N165K probably benign Het
Gen1 A C 12: 11,292,419 (GRCm39) S457A probably benign Het
Gja1 T G 10: 56,264,129 (GRCm39) S163A probably benign Het
Gm8267 T C 14: 44,959,481 (GRCm39) I194M probably damaging Het
Golga3 T A 5: 110,336,529 (GRCm39) S389R probably damaging Het
Gpc5 C A 14: 115,370,654 (GRCm39) Q87K possibly damaging Het
Hmcn2 G A 2: 31,312,661 (GRCm39) A3420T probably damaging Het
Htt A G 5: 34,979,067 (GRCm39) S817G probably null Het
Hus1b C T 13: 31,131,533 (GRCm39) C42Y possibly damaging Het
Iars2 A G 1: 185,021,564 (GRCm39) F913L probably benign Het
Kcna4 A G 2: 107,125,665 (GRCm39) E133G probably damaging Het
Klhl36 T C 8: 120,603,536 (GRCm39) L597P probably benign Het
Ltv1 T C 10: 13,056,646 (GRCm39) E299G possibly damaging Het
Mmp12 A G 9: 7,357,840 (GRCm39) Y348C probably damaging Het
Mmp12 G A 9: 7,369,173 (GRCm39) V270I probably benign Het
Mmp2 A G 8: 93,558,333 (GRCm39) D134G probably damaging Het
Mrpl15 A T 1: 4,846,865 (GRCm39) M237K probably benign Het
Ms4a6b G T 19: 11,504,253 (GRCm39) V177F possibly damaging Het
Muc16 A G 9: 18,557,375 (GRCm39) S2973P unknown Het
Or1e30 A C 11: 73,677,974 (GRCm39) D70A possibly damaging Het
Or5b120 G T 19: 13,480,243 (GRCm39) D179Y probably damaging Het
Or5b12b A T 19: 12,862,006 (GRCm39) I254F probably damaging Het
Or8b48 A T 9: 38,493,050 (GRCm39) H159L probably damaging Het
Pikfyve T A 1: 65,286,364 (GRCm39) I1201K probably benign Het
Plekhn1 T G 4: 156,318,374 (GRCm39) M83L probably damaging Het
Pnlip G T 19: 58,664,695 (GRCm39) D212Y probably damaging Het
Pomt2 T C 12: 87,174,152 (GRCm39) N417S probably damaging Het
Pxylp1 T A 9: 96,707,103 (GRCm39) M360L probably benign Het
Rbak G A 5: 143,159,682 (GRCm39) T457I possibly damaging Het
Runx2 A T 17: 45,125,424 (GRCm39) W31R probably null Het
Sec16a T A 2: 26,315,277 (GRCm39) I1795F probably damaging Het
Sik2 A T 9: 50,909,861 (GRCm39) I64N probably damaging Het
Slc26a8 T C 17: 28,857,371 (GRCm39) E924G possibly damaging Het
Slc30a2 G A 4: 134,074,726 (GRCm39) R161Q probably damaging Het
Slc45a4 C A 15: 73,459,487 (GRCm39) D174Y probably damaging Het
Slc6a6 A C 6: 91,718,248 (GRCm39) E354A probably damaging Het
Slc8a1 A T 17: 81,956,524 (GRCm39) S171R probably damaging Het
Srgap1 T C 10: 121,640,858 (GRCm39) I669M probably benign Het
Stk39 C A 2: 68,240,471 (GRCm39) A87S possibly damaging Het
Tasor A T 14: 27,183,608 (GRCm39) N689I probably damaging Het
Tbx18 C A 9: 87,587,317 (GRCm39) S600I possibly damaging Het
Tesc A C 5: 118,193,025 (GRCm39) K114Q probably damaging Het
Tll1 T C 8: 64,554,915 (GRCm39) D256G probably damaging Het
Tmem35b T A 4: 127,021,679 (GRCm39) I45K probably benign Het
Tnks T C 8: 35,307,168 (GRCm39) D1127G probably damaging Het
Trpm8 A T 1: 88,289,802 (GRCm39) D920V probably null Het
U2af1 A T 17: 31,867,831 (GRCm39) D79E probably benign Het
Zfp704 T C 3: 9,535,977 (GRCm39) D331G probably damaging Het
Znrf3 G T 11: 5,232,442 (GRCm39) P261Q probably benign Het
Zscan4b A T 7: 10,635,636 (GRCm39) C202* probably null 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
R2234:Or4c114 UTSW 2 88,904,592 (GRCm39) missense probably damaging 1.00
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
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'- TAGGATTTAGCAATGGTGTAAGGAC -3'
(R):5'- TTCCATCATGACTCGGAGGC -3'

Sequencing Primer
(F):5'- TTATATGGGACCCACAGG -3'
(R):5'- CATCATGACTCGGAGGCTCTGTG -3'
Posted On 2019-05-13