Incidental Mutation 'R6213:Or2a14'
ID 503554
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 044346-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R6213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 43130241-43131173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43130821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 194 (N194S)
Ref Sequence ENSEMBL: ENSMUSP00000149245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095953] [ENSMUST00000215911] [ENSMUST00000216411]
AlphaFold K9J725
Predicted Effect possibly damaging
Transcript: ENSMUST00000095953
AA Change: N194S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093647
Gene: ENSMUSG00000094200
AA Change: N194S

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8e-61 PFAM
Pfam:7tm_1 40 289 2.6e-26 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000215911
AA Change: N194S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216411
AA Change: N194S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,218,762 (GRCm39) Y207H probably damaging Het
Adcy7 G A 8: 89,040,765 (GRCm39) V335M probably damaging Het
Apol11b A C 15: 77,522,200 (GRCm39) D32E possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdkn1b T A 6: 134,898,206 (GRCm39) D108E probably benign Het
Cep290 A G 10: 100,359,222 (GRCm39) D984G probably benign Het
Csde1 T C 3: 102,947,830 (GRCm39) V128A probably damaging Het
Csmd3 A G 15: 47,492,656 (GRCm39) S3162P probably damaging Het
D5Ertd579e G A 5: 36,759,978 (GRCm39) T1394I probably damaging Het
Ddx6 T A 9: 44,539,990 (GRCm39) L306Q probably damaging Het
Dmxl1 T A 18: 49,996,082 (GRCm39) S403T possibly damaging Het
F11 G T 8: 45,694,537 (GRCm39) T608K probably damaging Het
Flrt3 C T 2: 140,503,085 (GRCm39) R181H probably damaging Het
Hs3st1 A T 5: 39,771,864 (GRCm39) C260S probably damaging Het
Ighv7-1 A T 12: 113,860,141 (GRCm39) S84T probably damaging Het
Inpp4b A G 8: 82,724,019 (GRCm39) D332G probably damaging Het
Irf2bpl T C 12: 86,930,367 (GRCm39) Q102R probably benign Het
Itpr3 T A 17: 27,330,174 (GRCm39) D1597E probably benign Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lypd8 A G 11: 58,281,160 (GRCm39) T241A probably benign Het
Map1lc3a T C 2: 155,118,935 (GRCm39) probably null Het
Mast1 G A 8: 85,642,198 (GRCm39) T1052I probably damaging Het
Muc2 T C 7: 141,305,151 (GRCm39) C152R probably damaging Het
Muc5b A T 7: 141,415,903 (GRCm39) M2950L probably benign Het
Muc5b A G 7: 141,421,356 (GRCm39) D4282G possibly damaging Het
Myo16 G T 8: 10,420,963 (GRCm39) probably null Het
Myo9a T A 9: 59,734,541 (GRCm39) F708I probably damaging Het
Nadsyn1 A T 7: 143,353,549 (GRCm39) F558Y probably benign Het
Nat9 A T 11: 115,075,932 (GRCm39) W30R probably damaging Het
Nipbl A G 15: 8,364,390 (GRCm39) L1338S probably damaging Het
Nipsnap3b A G 4: 53,017,066 (GRCm39) T97A probably benign Het
Npepps A T 11: 97,132,823 (GRCm39) Y301* probably null Het
Nrcam C T 12: 44,609,215 (GRCm39) P447S possibly damaging Het
Or14c41 A G 7: 86,234,485 (GRCm39) M1V probably null Het
Or1o4 T C 17: 37,591,264 (GRCm39) S16G probably benign Het
Or52b4 T C 7: 102,184,139 (GRCm39) Y62H probably damaging Het
Pacsin3 G T 2: 91,090,779 (GRCm39) V29F probably damaging Het
Pdzrn3 A C 6: 101,354,805 (GRCm39) D15E probably damaging Het
Phf20l1 T C 15: 66,504,752 (GRCm39) probably null Het
Pign A C 1: 105,516,991 (GRCm39) V545G possibly damaging Het
Pkhd1 T C 1: 20,593,994 (GRCm39) N1373S possibly damaging Het
Ptchd4 T A 17: 42,688,251 (GRCm39) H264Q probably benign Het
Ptpn3 G T 4: 57,265,012 (GRCm39) Q73K probably damaging Het
Ptrh1 G A 2: 32,666,757 (GRCm39) V109I probably benign Het
Reg1 A T 6: 78,404,386 (GRCm39) I87F possibly damaging Het
Rrp12 C A 19: 41,857,217 (GRCm39) V1186L probably benign Het
Sall1 AGTGGTGGTGGTGGTGGTGGTGG AGTGGTGGTGGTGGTGGTGG 8: 89,759,686 (GRCm39) probably benign Het
Slc23a3 A C 1: 75,108,392 (GRCm39) F279V probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Suds3 A G 5: 117,244,727 (GRCm39) L115P probably damaging Het
Tekt2 G A 4: 126,216,989 (GRCm39) A260V probably damaging Het
Tgfb3 T A 12: 86,104,621 (GRCm39) Y391F probably damaging Het
Topbp1 T C 9: 103,209,950 (GRCm39) S866P probably benign Het
Tspan14 A G 14: 40,635,372 (GRCm39) Y175H probably benign Het
Vars2 T C 17: 35,971,332 (GRCm39) T568A probably benign Het
Vmn1r216 T G 13: 23,283,339 (GRCm39) D7E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp281 T C 1: 136,553,250 (GRCm39) V76A probably benign Het
Zfp36l2 T C 17: 84,493,980 (GRCm39) N219S probably damaging Het
Zfp626 T C 7: 27,507,717 (GRCm39) M42T probably benign Het
Zscan21 C T 5: 138,123,359 (GRCm39) P13S probably benign 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
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
R8497:Or2a14 UTSW 6 43,130,818 (GRCm39) missense probably damaging 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 2018-02-27