Incidental Mutation 'R0086:Or4c119'
ID 208398
Institutional Source Beutler Lab
Gene Symbol Or4c119
Ensembl Gene ENSMUSG00000075099
Gene Name olfactory receptor family 4 subfamily C member 119
Synonyms Olfr1224, GA_x6K02T2Q125-50635980-50635046, MOR233-15
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0086 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 88986585-88987517 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88986820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 233 (R233H)
Ref Sequence ENSEMBL: ENSMUSP00000148938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099792] [ENSMUST00000099793] [ENSMUST00000216833] [ENSMUST00000216976] [ENSMUST00000217342]
AlphaFold A3KGY4
Predicted Effect probably benign
Transcript: ENSMUST00000099792
AA Change: R233H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097380
Gene: ENSMUSG00000075099
AA Change: R233H

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-48 PFAM
Pfam:7tm_1 39 287 9.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099793
AA Change: R233H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: R233H

DomainStartEndE-ValueType
Pfam:7tm_1 39 286 2e-26 PFAM
Pfam:7tm_4 138 283 5.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214069
Predicted Effect probably benign
Transcript: ENSMUST00000216833
AA Change: R233H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216913
Predicted Effect probably benign
Transcript: ENSMUST00000216976
AA Change: R233H

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000217342
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Sp2 C A 11: 96,848,253 (GRCm39) G457C probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging Het
Other mutations in Or4c119
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Or4c119 APN 2 88,987,261 (GRCm39) missense probably benign 0.01
IGL02561:Or4c119 APN 2 88,987,485 (GRCm39) missense possibly damaging 0.94
R0096:Or4c119 UTSW 2 88,986,640 (GRCm39) missense probably benign 0.03
R0096:Or4c119 UTSW 2 88,986,640 (GRCm39) missense probably benign 0.03
R0783:Or4c119 UTSW 2 88,987,235 (GRCm39) missense probably benign 0.30
R1920:Or4c119 UTSW 2 88,986,925 (GRCm39) missense probably benign 0.44
R1921:Or4c119 UTSW 2 88,986,925 (GRCm39) missense probably benign 0.44
R2033:Or4c119 UTSW 2 88,987,498 (GRCm39) missense probably damaging 0.96
R3500:Or4c119 UTSW 2 88,987,403 (GRCm39) missense probably damaging 1.00
R5044:Or4c119 UTSW 2 88,987,283 (GRCm39) nonsense probably null
R5140:Or4c119 UTSW 2 88,987,451 (GRCm39) missense probably benign 0.12
R5253:Or4c119 UTSW 2 88,986,801 (GRCm39) nonsense probably null
R6338:Or4c119 UTSW 2 88,986,715 (GRCm39) missense probably damaging 1.00
R6431:Or4c119 UTSW 2 88,987,505 (GRCm39) missense probably damaging 1.00
R6904:Or4c119 UTSW 2 88,987,157 (GRCm39) missense possibly damaging 0.57
R7259:Or4c119 UTSW 2 88,986,854 (GRCm39) missense probably benign 0.03
R7820:Or4c119 UTSW 2 88,986,592 (GRCm39) missense probably benign 0.08
R9026:Or4c119 UTSW 2 88,986,988 (GRCm39) missense probably benign 0.22
R9076:Or4c119 UTSW 2 88,986,719 (GRCm39) missense possibly damaging 0.95
R9266:Or4c119 UTSW 2 88,986,854 (GRCm39) missense possibly damaging 0.70
R9378:Or4c119 UTSW 2 88,987,399 (GRCm39) missense probably damaging 1.00
R9580:Or4c119 UTSW 2 88,987,465 (GRCm39) missense probably benign 0.20
R9751:Or4c119 UTSW 2 88,986,782 (GRCm39) missense possibly damaging 0.91
Z1176:Or4c119 UTSW 2 88,986,811 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGTTGATGGTATGGGAAAGGGT -3'
(R):5'- CCCATTACTAAAGCTTGCCTGCACC -3'

Sequencing Primer
(F):5'- tctattacaaattgagccatttccc -3'
(R):5'- GCACCAATACACACATTTTTGTC -3'
Posted On 2014-06-25