Incidental Mutation 'R3500:Or4c119'
ID 273741
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 040663-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R3500 (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 88987403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 39 (G39R)
Ref Sequence ENSEMBL: ENSMUSP00000148938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099792] [ENSMUST00000099793] [ENSMUST00000216833] [ENSMUST00000216976]
AlphaFold A3KGY4
Predicted Effect probably damaging
Transcript: ENSMUST00000099792
AA Change: G39R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097380
Gene: ENSMUSG00000075099
AA Change: G39R

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-48 PFAM
Pfam:7tm_1 39 287 9.9e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000099793
AA Change: G39R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097381
Gene: ENSMUSG00000075099
AA Change: G39R

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 damaging
Transcript: ENSMUST00000216833
AA Change: G39R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216913
Predicted Effect probably damaging
Transcript: ENSMUST00000216976
AA Change: G39R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.2%
Validation Efficiency 98% (53/54)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amhr2 A G 15: 102,355,501 (GRCm39) D188G probably benign Het
Arl15 G A 13: 114,104,228 (GRCm39) E102K probably damaging Het
Atp10d C T 5: 72,403,066 (GRCm39) R319C probably damaging Het
Cetn4 A T 3: 37,364,109 (GRCm39) F34I probably benign Het
Chd8 G T 14: 52,443,110 (GRCm39) H510N probably benign Het
Chil5 T C 3: 105,925,536 (GRCm39) D157G probably damaging Het
Clcn1 T C 6: 42,269,929 (GRCm39) S251P probably damaging Het
Clstn3 A T 6: 124,408,670 (GRCm39) C881S probably benign Het
Cnot4 G A 6: 35,057,076 (GRCm39) probably benign Het
Copg1 G A 6: 87,872,905 (GRCm39) probably benign Het
Czib C T 4: 107,748,710 (GRCm39) R83W probably damaging Het
Eftud2 A G 11: 102,735,006 (GRCm39) M631T probably damaging Het
Elavl3 A G 9: 21,930,040 (GRCm39) V288A probably damaging Het
Fancb A G X: 163,779,104 (GRCm39) T721A probably damaging Het
Fat2 A G 11: 55,151,342 (GRCm39) F3800S probably damaging Het
Fgd2 T C 17: 29,584,575 (GRCm39) V173A possibly damaging Het
Gabrr1 T C 4: 33,158,184 (GRCm39) probably benign Het
Gata4 C T 14: 63,437,982 (GRCm39) G390S possibly damaging Het
Gm9396 C A 3: 129,862,144 (GRCm39) noncoding transcript Het
Grid2 T C 6: 63,480,383 (GRCm39) S66P probably damaging Het
Hdac9 C A 12: 34,487,352 (GRCm39) M16I probably benign Het
Kmt2c A T 5: 25,504,477 (GRCm39) D3610E probably benign Het
Lactb2 A T 1: 13,730,673 (GRCm39) M1K probably null Het
Ldhb T C 6: 142,447,173 (GRCm39) D47G probably damaging Het
Map3k11 A T 19: 5,740,275 (GRCm39) M1L probably benign Het
Mecom C T 3: 30,035,061 (GRCm39) R205H probably damaging Het
Mob1b A G 5: 88,897,479 (GRCm39) D129G probably benign Het
Nbea A G 3: 55,588,431 (GRCm39) V2436A possibly damaging Het
Neb T C 2: 52,215,797 (GRCm39) N170S probably damaging Het
Nedd4l G A 18: 65,345,931 (GRCm39) A848T probably damaging Het
Nr5a1 G A 2: 38,597,952 (GRCm39) R282* probably null Het
Or4c102 A G 2: 88,422,285 (GRCm39) T46A probably damaging Het
Or4d10c A G 19: 12,065,421 (GRCm39) V245A possibly damaging Het
Or4f47 T C 2: 111,972,472 (GRCm39) F61L possibly damaging Het
Or52e2 T C 7: 102,804,297 (GRCm39) Y219C probably damaging Het
Pcdhb19 T A 18: 37,630,532 (GRCm39) L109* probably null Het
Plcg2 A G 8: 118,339,717 (GRCm39) M1043V probably benign Het
Podxl2 T C 6: 88,819,900 (GRCm39) D554G probably damaging Het
Ppp3ca A G 3: 136,587,273 (GRCm39) T252A probably benign Het
Pramel6 A G 2: 87,339,569 (GRCm39) H111R probably damaging Het
Prr19 A G 7: 25,002,692 (GRCm39) E130G probably damaging Het
Rab44 C T 17: 29,357,041 (GRCm39) A57V probably benign Het
Rhbdl3 T C 11: 80,210,531 (GRCm39) F95L probably damaging Het
Sdk1 G T 5: 141,992,371 (GRCm39) probably benign Het
Tas2r122 T A 6: 132,688,523 (GRCm39) K123N probably damaging Het
Tbpl2 C T 2: 23,977,151 (GRCm39) R289Q probably benign Het
Trpm2 A G 10: 77,768,136 (GRCm39) F788L probably benign Het
Ttn G A 2: 76,560,628 (GRCm39) L29258F probably damaging Het
Ttn G T 2: 76,591,509 (GRCm39) F19307L possibly damaging Het
Vmn2r23 T C 6: 123,690,129 (GRCm39) I335T possibly 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
R0086:Or4c119 UTSW 2 88,986,820 (GRCm39) missense probably benign 0.01
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
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'- TGGACAGCAAAGAGTTGTATCATAC -3'
(R):5'- ACAGTTCATGTCATGGCACAAATG -3'

Sequencing Primer
(F):5'- CAACATTCAAAGGAAATGGTCTTCC -3'
(R):5'- CAGAGCATTGTCACTGAGT -3'
Posted On 2015-04-02