Incidental Mutation 'R8497:Or2a14'
ID 658317
Institutional Source Beutler Lab
Gene Symbol Or2a14
Ensembl Gene ENSMUSG00000094200
Gene Name olfactory receptor family 2 subfamily A member 14
Synonyms Olfr237-ps1, MOR261-4, Olfr237, GA_x6K02T08UK8-1-481, GA_x6K02T2P3E9-4404793-4403861, Olfr438
MMRRC Submission 067939-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R8497 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 43130241-43131173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43130818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 193 (L193P)
Ref Sequence ENSEMBL: ENSMUSP00000149245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095953] [ENSMUST00000215911] [ENSMUST00000216411]
AlphaFold K9J725
Predicted Effect probably damaging
Transcript: ENSMUST00000095953
AA Change: L193P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000093647
Gene: ENSMUSG00000094200
AA Change: L193P

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8e-61 PFAM
Pfam:7tm_1 40 289 2.6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215911
AA Change: L193P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000216411
AA Change: L193P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.7510 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf C T 19: 31,923,250 (GRCm39) H509Y probably benign Het
Afm A T 5: 90,699,202 (GRCm39) probably null Het
Apc G A 18: 34,446,083 (GRCm39) C975Y possibly damaging Het
Ash1l G T 3: 88,914,951 (GRCm39) M1860I probably benign Het
Bdkrb1 C T 12: 105,570,463 (GRCm39) Q10* probably null Het
Bphl A G 13: 34,221,706 (GRCm39) K21E possibly damaging Het
Cadps2 T C 6: 23,355,918 (GRCm39) N837D probably benign Het
Cat C G 2: 103,287,221 (GRCm39) A470P probably damaging Het
Cdc34 G T 10: 79,520,845 (GRCm39) D11Y probably damaging Het
Cep290 A G 10: 100,387,320 (GRCm39) E1936G probably damaging Het
Cnot6 A T 11: 49,566,191 (GRCm39) N501K possibly damaging Het
Cyth3 A C 5: 143,678,328 (GRCm39) D44A probably benign Het
Dchs1 C T 7: 105,408,168 (GRCm39) G1888D probably damaging Het
Ffar1 T G 7: 30,560,334 (GRCm39) I188L probably benign Het
Fhip1b G T 7: 105,030,396 (GRCm39) D820E probably damaging Het
Gpr17 A G 18: 32,080,173 (GRCm39) Y297H probably damaging Het
H2-M10.5 A C 17: 37,084,729 (GRCm39) E151A probably damaging Het
Hmcn1 C T 1: 150,455,990 (GRCm39) R5310K probably benign Het
Hmcn2 T C 2: 31,313,357 (GRCm39) L3522P possibly damaging Het
Hs2st1 T G 3: 144,140,452 (GRCm39) T290P probably damaging Het
Il5ra G A 6: 106,715,066 (GRCm39) L231F probably benign Het
Itgav T A 2: 83,615,805 (GRCm39) C529S probably damaging Het
Itprid1 A T 6: 55,875,179 (GRCm39) R376S probably benign Het
Lrrcc1 A G 3: 14,605,044 (GRCm39) D138G possibly damaging Het
Mat1a C T 14: 40,843,851 (GRCm39) R357W probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtss2 T C 8: 111,465,222 (GRCm39) V492A possibly damaging Het
Nalcn A G 14: 123,752,771 (GRCm39) V330A probably damaging Het
Neu3 A T 7: 99,472,342 (GRCm39) probably null Het
Nfx1 A G 4: 40,976,968 (GRCm39) D214G possibly damaging Het
Or2y17 G A 11: 49,231,721 (GRCm39) D121N probably damaging Het
Or4f14 T A 2: 111,742,964 (GRCm39) I104F possibly damaging Het
Or5b104 T C 19: 13,072,707 (GRCm39) T102A probably benign Het
Pcdhb14 A T 18: 37,582,349 (GRCm39) H485L probably benign Het
Pdss2 A C 10: 43,289,521 (GRCm39) K342T possibly damaging Het
Ppargc1a A G 5: 51,647,570 (GRCm39) S254P probably damaging Het
Prelid1 A G 13: 55,470,833 (GRCm39) D87G probably damaging Het
Prkg1 C A 19: 31,279,709 (GRCm39) C190F probably damaging Het
Psmb5 A G 14: 54,851,837 (GRCm39) S116P possibly damaging Het
Rassf6 A G 5: 90,779,391 (GRCm39) V14A possibly damaging Het
Ripk1 T C 13: 34,211,934 (GRCm39) S415P probably damaging Het
Rnft1 A T 11: 86,386,132 (GRCm39) K344* probably null Het
Sacs G A 14: 61,429,702 (GRCm39) R587Q probably benign Het
Skp2 A T 15: 9,127,971 (GRCm39) probably null Het
Spata31d1a T C 13: 59,848,988 (GRCm39) K1047E possibly damaging Het
Spopfm2 T A 3: 94,083,119 (GRCm39) I231F possibly damaging Het
Szt2 G A 4: 118,245,518 (GRCm39) T1098I possibly damaging Het
Tcf20 A G 15: 82,740,152 (GRCm39) M433T probably benign Het
Tsen54 T C 11: 115,713,410 (GRCm39) F438L probably damaging Het
Utp23 C T 15: 51,745,614 (GRCm39) T144I probably damaging Het
Vmn2r105 T C 17: 20,455,134 (GRCm39) M1V probably null Het
Wdfy4 C T 14: 32,688,356 (GRCm39) V2926M probably damaging Het
Zfp407 T C 18: 84,578,021 (GRCm39) K1031E probably damaging Het
Other mutations in Or2a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Or2a14 APN 6 43,130,569 (GRCm39) missense probably damaging 1.00
IGL01658:Or2a14 APN 6 43,130,784 (GRCm39) missense probably damaging 0.99
IGL02826:Or2a14 APN 6 43,130,511 (GRCm39) missense possibly damaging 0.80
R0504:Or2a14 UTSW 6 43,130,395 (GRCm39) missense probably benign
R0839:Or2a14 UTSW 6 43,130,558 (GRCm39) missense probably benign 0.13
R1954:Or2a14 UTSW 6 43,130,911 (GRCm39) missense possibly damaging 0.82
R5238:Or2a14 UTSW 6 43,130,961 (GRCm39) missense probably damaging 1.00
R5534:Or2a14 UTSW 6 43,130,567 (GRCm39) missense probably benign 0.00
R6213:Or2a14 UTSW 6 43,130,821 (GRCm39) missense possibly damaging 0.95
R6382:Or2a14 UTSW 6 43,130,899 (GRCm39) missense probably damaging 1.00
R8261:Or2a14 UTSW 6 43,130,242 (GRCm39) start codon destroyed probably null 1.00
R9080:Or2a14 UTSW 6 43,130,830 (GRCm39) missense possibly damaging 0.94
R9691:Or2a14 UTSW 6 43,130,629 (GRCm39) missense probably benign 0.00
R9709:Or2a14 UTSW 6 43,130,469 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- AGAGTGTGTACCATTCTGGC -3'
(R):5'- AGGATCTTTTGCTGCAGTTCAG -3'

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