Incidental Mutation 'R8520:Or14a259'
ID 658590
Institutional Source Beutler Lab
Gene Symbol Or14a259
Ensembl Gene ENSMUSG00000055571
Gene Name olfactory receptor family 14 subfamily A member 259
Synonyms GA_x6K02T2NHDJ-9744055-9745014, Olfr305, MOR219-2
MMRRC Submission 067947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R8520 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 86012584-86013543 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86013471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 25 (C25S)
Ref Sequence ENSEMBL: ENSMUSP00000149883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069236] [ENSMUST00000213255] [ENSMUST00000213869] [ENSMUST00000216700]
AlphaFold Q7TS02
Predicted Effect probably benign
Transcript: ENSMUST00000069236
AA Change: C25S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000068650
Gene: ENSMUSG00000055571
AA Change: C25S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 2.3e-40 PFAM
Pfam:7tm_1 39 288 3.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000213255
AA Change: C25S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000213869
AA Change: C25S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000216700
AA Change: C25S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik A T 13: 59,838,423 (GRCm39) F136L possibly damaging Het
A430033K04Rik T A 5: 138,644,968 (GRCm39) N284K possibly damaging Het
Abcb1a T C 5: 8,735,346 (GRCm39) I151T possibly damaging Het
Adam28 C T 14: 68,879,532 (GRCm39) G172D probably damaging Het
Adcy6 A G 15: 98,502,041 (GRCm39) V191A probably benign Het
Ankrd52 T C 10: 128,225,359 (GRCm39) L911P probably damaging Het
C5ar1 A G 7: 15,982,076 (GRCm39) S315P probably damaging Het
Cubn A G 2: 13,313,331 (GRCm39) probably null Het
Dlec1 T C 9: 118,941,277 (GRCm39) S276P probably benign Het
Dnah14 T A 1: 181,481,203 (GRCm39) I1564N probably damaging Het
Dsg2 G A 18: 20,712,508 (GRCm39) G171R probably damaging Het
Dusp13b C A 14: 21,793,538 (GRCm39) G208* probably null Het
Ebf3 A C 7: 136,802,853 (GRCm39) probably null Het
Fbn2 A T 18: 58,171,270 (GRCm39) probably null Het
Fbxo27 A G 7: 28,392,767 (GRCm39) D16G probably benign Het
G6pc3 A G 11: 102,083,934 (GRCm39) S187G probably benign Het
Gucy2d G A 7: 98,121,513 (GRCm39) V995I probably null Het
Hmcn2 C A 2: 31,244,726 (GRCm39) P728T probably damaging Het
Il1r2 T C 1: 40,144,499 (GRCm39) L62P probably damaging Het
Ints7 T C 1: 191,314,603 (GRCm39) S63P probably damaging Het
Lyset T A 12: 102,710,431 (GRCm39) probably null Het
Mcf2l C A 8: 12,930,089 (GRCm39) D36E probably benign Het
Mfsd13b T G 7: 120,590,586 (GRCm39) I109S probably benign Het
Mier2 G A 10: 79,378,263 (GRCm39) H385Y possibly damaging Het
Mydgf C A 17: 56,490,734 (GRCm39) probably null Het
Nanog A T 6: 122,690,475 (GRCm39) L268F possibly damaging Het
Or12j5 T A 7: 140,084,315 (GRCm39) D19V probably benign Het
Otud4 T A 8: 80,385,896 (GRCm39) N256K probably damaging Het
P2rx1 A T 11: 72,899,779 (GRCm39) D128V probably benign Het
Pappa G A 4: 65,254,001 (GRCm39) V1552I probably benign Het
Pax8 A T 2: 24,333,034 (GRCm39) F103I probably damaging Het
Ptk2b T A 14: 66,412,204 (GRCm39) S396C probably damaging Het
Rnf148 A G 6: 23,654,169 (GRCm39) Y276H probably damaging Het
Sec11c A T 18: 65,947,911 (GRCm39) I93L probably damaging Het
Serpinb2 T A 1: 107,450,910 (GRCm39) N217K probably benign Het
Slc2a13 T A 15: 91,457,105 (GRCm39) T66S probably damaging Het
Slc4a3 T C 1: 75,526,506 (GRCm39) M9T probably benign Het
Sord G A 2: 122,087,423 (GRCm39) V176I possibly damaging Het
Thbs4 G A 13: 92,890,792 (GRCm39) Q892* probably null Het
Thsd7b T A 1: 129,849,157 (GRCm39) D956E probably benign Het
Topbp1 T A 9: 103,186,176 (GRCm39) probably null Het
Tst T C 15: 78,289,453 (GRCm39) E194G probably damaging Het
Ttk T A 9: 83,739,380 (GRCm39) S484T possibly damaging Het
U2surp A G 9: 95,384,607 (GRCm39) S26P possibly damaging Het
Ugt2b37 C T 5: 87,388,714 (GRCm39) A500T probably benign Het
Utrn A T 10: 12,545,930 (GRCm39) Y1669* probably null Het
Vmn2r23 A T 6: 123,718,615 (GRCm39) Q656L probably damaging Het
Wdr7 A G 18: 64,120,231 (GRCm39) N1424S probably benign Het
Xkr9 A G 1: 13,771,603 (GRCm39) D373G probably benign Het
Zfp984 T A 4: 147,840,668 (GRCm39) Y61F probably benign Het
Other mutations in Or14a259
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01071:Or14a259 APN 7 86,012,768 (GRCm39) missense possibly damaging 0.46
IGL02102:Or14a259 APN 7 86,013,074 (GRCm39) missense probably benign 0.25
IGL02424:Or14a259 APN 7 86,012,688 (GRCm39) missense probably benign 0.02
IGL02664:Or14a259 APN 7 86,012,811 (GRCm39) missense possibly damaging 0.94
IGL03167:Or14a259 APN 7 86,013,128 (GRCm39) missense probably damaging 1.00
R0035:Or14a259 UTSW 7 86,013,395 (GRCm39) missense possibly damaging 0.95
R0373:Or14a259 UTSW 7 86,013,013 (GRCm39) nonsense probably null
R0510:Or14a259 UTSW 7 86,013,035 (GRCm39) missense probably benign 0.21
R2214:Or14a259 UTSW 7 86,013,414 (GRCm39) missense probably benign 0.01
R3147:Or14a259 UTSW 7 86,013,092 (GRCm39) missense probably benign 0.01
R3623:Or14a259 UTSW 7 86,013,308 (GRCm39) missense probably benign 0.02
R4155:Or14a259 UTSW 7 86,013,270 (GRCm39) missense probably benign 0.00
R4332:Or14a259 UTSW 7 86,013,080 (GRCm39) missense probably benign 0.01
R4785:Or14a259 UTSW 7 86,012,943 (GRCm39) missense probably damaging 1.00
R4834:Or14a259 UTSW 7 86,012,952 (GRCm39) missense probably benign 0.21
R4871:Or14a259 UTSW 7 86,012,692 (GRCm39) missense probably damaging 1.00
R5161:Or14a259 UTSW 7 86,013,546 (GRCm39) splice site probably null
R5254:Or14a259 UTSW 7 86,013,398 (GRCm39) missense possibly damaging 0.82
R6430:Or14a259 UTSW 7 86,013,181 (GRCm39) nonsense probably null
R7734:Or14a259 UTSW 7 86,013,476 (GRCm39) missense not run
R8682:Or14a259 UTSW 7 86,013,373 (GRCm39) missense probably damaging 0.99
R9407:Or14a259 UTSW 7 86,013,194 (GRCm39) nonsense probably null
R9728:Or14a259 UTSW 7 86,012,771 (GRCm39) missense probably damaging 1.00
RF010:Or14a259 UTSW 7 86,012,594 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACCTGAAATGCACATCCAAGTATG -3'
(R):5'- CGTAATTTAGGTAGTTTCCTGACTC -3'

Sequencing Primer
(F):5'- TGTGCATAAGGCTATTGACAAAG -3'
(R):5'- AGGTAGTTTCCTGACTCTTTTCCAC -3'
Posted On 2021-01-18