Incidental Mutation 'R8104:Or14a257'
ID 630641
Institutional Source Beutler Lab
Gene Symbol Or14a257
Ensembl Gene ENSMUSG00000062878
Gene Name olfactory receptor family 14 subfamily A member 257
Synonyms GA_x6K02T2NHDJ-9619796-9620794, Olfr298, MOR219-4
MMRRC Submission 067535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R8104 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 86137759-86138757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86138231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 176 (F176S)
Ref Sequence ENSEMBL: ENSMUSP00000150228 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077800] [ENSMUST00000213223] [ENSMUST00000216968] [ENSMUST00000217110]
AlphaFold Q7TS06
Predicted Effect probably damaging
Transcript: ENSMUST00000077800
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076973
Gene: ENSMUSG00000062878
AA Change: F176S

DomainStartEndE-ValueType
Pfam:7tm_4 29 306 4.2e-37 PFAM
Pfam:7tm_1 39 288 8.4e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213223
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216968
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000217110
AA Change: F176S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4421 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.5%
  • 10x: 98.6%
  • 20x: 94.6%
Validation Efficiency 98% (54/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg2 C A 17: 57,152,443 (GRCm39) L666F probably benign Het
Adgrv1 A T 13: 81,588,344 (GRCm39) V4414E possibly damaging Het
Apoc3 T G 9: 46,144,585 (GRCm39) D79A probably damaging Het
Arfgap1 T A 2: 180,621,022 (GRCm39) probably null Het
Ascc1 T C 10: 59,843,551 (GRCm39) S38P probably benign Het
Asl C T 5: 130,040,791 (GRCm39) E389K probably benign Het
Atat1 A T 17: 36,215,008 (GRCm39) I215K probably benign Het
Bod1l A T 5: 41,991,075 (GRCm39) L160* probably null Het
Cbl C A 9: 44,069,836 (GRCm39) S637I possibly damaging Het
Ccdc112 A C 18: 46,420,720 (GRCm39) S343R probably benign Het
Cr1l A G 1: 194,799,925 (GRCm39) S250P possibly damaging Het
Cspg4b T A 13: 113,456,263 (GRCm39) F770I Het
Dlgap3 A G 4: 127,129,947 (GRCm39) E907G probably damaging Het
Dsp A T 13: 38,352,600 (GRCm39) E159D probably benign Het
Ech1 G A 7: 28,524,728 (GRCm39) probably benign Het
Erbin G T 13: 103,971,485 (GRCm39) N710K possibly damaging Het
Fbxw28 A T 9: 109,155,357 (GRCm39) probably null Het
Gm4871 G C 5: 144,969,012 (GRCm39) D100E probably damaging Het
Got1l1 A G 8: 27,687,619 (GRCm39) I388T probably damaging Het
Ing5 T A 1: 93,744,166 (GRCm39) N184K probably damaging Het
Izumo3 A T 4: 92,035,145 (GRCm39) L24* probably null Het
Lig1 T C 7: 13,020,491 (GRCm39) V99A possibly damaging Het
Mbtps1 A G 8: 120,255,794 (GRCm39) Y488H possibly damaging Het
Muc5ac A G 7: 141,358,520 (GRCm39) Y1240C possibly damaging Het
Nav3 T C 10: 109,594,828 (GRCm39) T1458A probably damaging Het
Nedd1 T C 10: 92,527,778 (GRCm39) E472G probably damaging Het
Nod2 A T 8: 89,391,685 (GRCm39) H664L possibly damaging Het
Ntrk3 A G 7: 78,227,450 (GRCm39) S28P probably damaging Het
Or1i2 C T 10: 78,448,242 (GRCm39) V78I probably benign Het
Or2ag17 T A 7: 106,390,338 (GRCm39) probably benign Het
Or2ag17 C A 7: 106,390,337 (GRCm39) probably benign Het
Or6c66b T A 10: 129,376,826 (GRCm39) M140K probably benign Het
Pcdha4 G T 18: 37,087,106 (GRCm39) G430W probably damaging Het
Pcnx1 T A 12: 82,030,385 (GRCm39) Y1114* probably null Het
Pde6a T A 18: 61,364,566 (GRCm39) D207E probably damaging Het
Plekhg1 T A 10: 3,902,326 (GRCm39) I540N Het
Pnp2 A T 14: 51,197,099 (GRCm39) I62F probably benign Het
Rarg C A 15: 102,148,334 (GRCm39) D258Y probably damaging Het
Rnps1 T A 17: 24,643,484 (GRCm39) M262K unknown Het
Scaf11 T C 15: 96,316,483 (GRCm39) D1027G probably benign Het
Serpina3a A T 12: 104,079,110 (GRCm39) probably benign Het
Slc25a1 A G 16: 17,744,297 (GRCm39) probably null Het
Slc44a3 A C 3: 121,291,521 (GRCm39) V365G probably benign Het
Slc45a3 T C 1: 131,904,754 (GRCm39) F26L probably benign Het
Slc9a2 T A 1: 40,757,809 (GRCm39) I116K probably damaging Het
Stk36 T A 1: 74,665,756 (GRCm39) S700T probably benign Het
Tekt3 A G 11: 62,968,945 (GRCm39) D224G probably benign Het
Tgtp1 A T 11: 48,877,841 (GRCm39) I288N probably damaging Het
Ttn C T 2: 76,710,567 (GRCm39) V8485M unknown Het
Tubg1 G T 11: 101,014,854 (GRCm39) A199S probably benign Het
Uso1 T A 5: 92,306,280 (GRCm39) I79K probably damaging Het
Utp20 C T 10: 88,593,766 (GRCm39) D2215N probably damaging Het
Wdr43 C T 17: 71,923,350 (GRCm39) A32V probably benign Het
Zfp704 T C 3: 9,630,301 (GRCm39) D170G probably benign Het
Other mutations in Or14a257
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01517:Or14a257 APN 7 86,138,765 (GRCm39) utr 5 prime probably benign
IGL01603:Or14a257 APN 7 86,138,139 (GRCm39) missense possibly damaging 0.92
IGL02389:Or14a257 APN 7 86,138,336 (GRCm39) missense probably damaging 0.98
IGL03146:Or14a257 APN 7 86,138,402 (GRCm39) missense probably damaging 1.00
R0680:Or14a257 UTSW 7 86,138,545 (GRCm39) missense probably benign
R0834:Or14a257 UTSW 7 86,138,698 (GRCm39) missense probably benign 0.11
R1132:Or14a257 UTSW 7 86,138,425 (GRCm39) missense probably benign 0.03
R1519:Or14a257 UTSW 7 86,138,333 (GRCm39) missense probably damaging 0.99
R1881:Or14a257 UTSW 7 86,138,646 (GRCm39) missense probably benign 0.01
R2170:Or14a257 UTSW 7 86,137,778 (GRCm39) missense probably benign 0.03
R4500:Or14a257 UTSW 7 86,138,127 (GRCm39) missense probably benign 0.00
R4524:Or14a257 UTSW 7 86,138,034 (GRCm39) missense probably damaging 1.00
R5184:Or14a257 UTSW 7 86,138,499 (GRCm39) frame shift probably null
R5521:Or14a257 UTSW 7 86,137,839 (GRCm39) missense probably benign 0.08
R7448:Or14a257 UTSW 7 86,138,417 (GRCm39) missense probably damaging 1.00
R7643:Or14a257 UTSW 7 86,138,776 (GRCm39) critical splice acceptor site probably null
R7688:Or14a257 UTSW 7 86,138,183 (GRCm39) missense probably benign 0.01
R8732:Or14a257 UTSW 7 86,138,061 (GRCm39) missense probably damaging 0.96
R8973:Or14a257 UTSW 7 86,138,487 (GRCm39) missense probably damaging 1.00
R9235:Or14a257 UTSW 7 86,138,306 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCAAGCTGTAACAATGAAAACACTG -3'
(R):5'- GACCACTATGTTGCCATCTGC -3'

Sequencing Primer
(F):5'- GCAAATGCTTTGGACTGACC -3'
(R):5'- GCTGTCCCCTACACTATGAGAC -3'
Posted On 2020-06-30