Incidental Mutation 'R7476:Or4a2'
ID 579468
Institutional Source Beutler Lab
Gene Symbol Or4a2
Ensembl Gene ENSMUSG00000075088
Gene Name olfactory receptor family 4 subfamily A member 2
Synonyms GA_x6K02T2Q125-50861284-50860367, Olfr1239, MOR231-3
MMRRC Submission 045550-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R7476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89247838-89248755 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89247843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 305 (K305E)
Ref Sequence ENSEMBL: ENSMUSP00000149898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099780] [ENSMUST00000216762] [ENSMUST00000217181]
AlphaFold Q8VGM8
Predicted Effect possibly damaging
Transcript: ENSMUST00000099780
AA Change: K305E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097368
Gene: ENSMUSG00000075088
AA Change: K305E

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 3.7e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000216762
AA Change: K305E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217181
AA Change: K305E

PolyPhen 2 Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730596B20Rik C T 6: 52,156,014 (GRCm39) P27S unknown Het
Abi3bp A T 16: 56,435,109 (GRCm39) K602* probably null Het
Adam29 G T 8: 56,326,230 (GRCm39) H75N probably damaging Het
Ajap1 C T 4: 153,469,312 (GRCm39) E373K probably damaging Het
Alg6 C A 4: 99,632,113 (GRCm39) H206N probably damaging Het
Alox5 A T 6: 116,392,394 (GRCm39) S376T probably benign Het
Arhgap19 A T 19: 41,770,802 (GRCm39) Y321N probably benign Het
Brip1 A G 11: 86,048,634 (GRCm39) V236A probably benign Het
C1ra C T 6: 124,499,658 (GRCm39) P615S probably damaging Het
Ccdc69 C T 11: 54,942,024 (GRCm39) V161I possibly damaging Het
Chil5 G A 3: 105,927,323 (GRCm39) R163C possibly damaging Het
Cldnd1 A G 16: 58,549,907 (GRCm39) D30G probably damaging Het
Csmd1 A G 8: 15,945,731 (GRCm39) C3561R probably damaging Het
Daxx T G 17: 34,130,255 (GRCm39) V90G probably damaging Het
Dgkg T A 16: 22,441,054 (GRCm39) probably benign Het
Dmrta2 A G 4: 109,839,222 (GRCm39) H323R probably damaging Het
Dysf A T 6: 84,041,878 (GRCm39) T161S probably benign Het
Fat1 G T 8: 45,484,311 (GRCm39) R3183L probably benign Het
Fcho1 C A 8: 72,166,190 (GRCm39) D347Y probably damaging Het
Gm21798 T C 15: 64,689,555 (GRCm39) C5R unknown Het
Hmcn1 T C 1: 150,456,018 (GRCm39) R5301G probably damaging Het
Hoxd11 T C 2: 74,514,459 (GRCm39) F330L probably damaging Het
Lactbl1 A G 4: 136,364,950 (GRCm39) D434G probably benign Het
Lgals8 A T 13: 12,463,362 (GRCm39) N191K probably damaging Het
Lmod2 T A 6: 24,597,920 (GRCm39) Y13* probably null Het
Malrd1 T C 2: 16,147,115 (GRCm39) S1986P unknown Het
Map3k9 C T 12: 81,790,582 (GRCm39) D324N probably damaging Het
Mcmbp C A 7: 128,305,306 (GRCm39) K487N probably damaging Het
Mrpl4 G T 9: 20,914,067 (GRCm39) probably benign Het
Nectin2 T C 7: 19,451,546 (GRCm39) D496G possibly damaging Het
Nom1 T C 5: 29,647,534 (GRCm39) S590P probably benign Het
Noto T C 6: 85,402,481 (GRCm39) F156L probably damaging Het
Nrf1 T A 6: 30,116,271 (GRCm39) D314E probably damaging Het
Nup93 T C 8: 95,030,260 (GRCm39) L373P probably damaging Het
Or2w1b A C 13: 21,300,191 (GRCm39) I110L probably benign Het
Or4c11c A G 2: 88,661,932 (GRCm39) Q157R probably benign Het
Or5d40 A T 2: 88,015,310 (GRCm39) M30L probably benign Het
Or5g25 T A 2: 85,478,512 (GRCm39) Q51L not run Het
Or9s27 A C 1: 92,516,986 (GRCm39) R311S probably benign Het
Pclo A T 5: 14,571,345 (GRCm39) K243N probably damaging Het
Pdgfra T A 5: 75,331,264 (GRCm39) C290S probably damaging Het
Pnlip G A 19: 58,668,066 (GRCm39) probably null Het
Pou2af3 G A 9: 51,188,900 (GRCm39) A19V possibly damaging Het
Ptprm A T 17: 67,032,786 (GRCm39) H1022Q probably benign Het
Rfx2 T C 17: 57,110,527 (GRCm39) D153G probably benign Het
Rps6ka2 T C 17: 7,539,032 (GRCm39) F317L probably damaging Het
Rtl1 T A 12: 109,557,539 (GRCm39) E1433D unknown Het
Sarnp A G 10: 128,669,223 (GRCm39) T27A probably benign Het
Shc3 A T 13: 51,602,042 (GRCm39) M295K probably benign Het
Slc1a3 T A 15: 8,672,568 (GRCm39) M304L probably damaging Het
Slco1a6 G T 6: 142,048,727 (GRCm39) T351K possibly damaging Het
Snrk A G 9: 121,986,288 (GRCm39) N219S probably damaging Het
Spats2 T A 15: 99,110,022 (GRCm39) V473E probably benign Het
Stk35 T C 2: 129,652,645 (GRCm39) L382P probably damaging Het
Tbx10 T C 19: 4,049,034 (GRCm39) V315A probably benign Het
Tdpoz1 A G 3: 93,578,082 (GRCm39) L234P probably damaging Het
Ttn T G 2: 76,544,489 (GRCm39) E32832D probably benign Het
Ttn T C 2: 76,601,530 (GRCm39) Y18678C probably damaging Het
Ugt2a2 A T 5: 87,622,353 (GRCm39) M205K probably damaging Het
Utrn C A 10: 12,516,695 (GRCm39) V2300L probably benign Het
Vmn1r175 T C 7: 23,507,847 (GRCm39) N260S probably benign Het
Vmn1r63 T A 7: 5,806,000 (GRCm39) I211L probably benign Het
Vmn1r83 A G 7: 12,055,542 (GRCm39) W172R possibly damaging Het
Xirp2 T C 2: 67,340,978 (GRCm39) L1073P probably benign Het
Zfp82 A G 7: 29,755,597 (GRCm39) V495A possibly damaging Het
Other mutations in Or4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03186:Or4a2 APN 2 89,248,188 (GRCm39) missense probably damaging 0.99
PIT4810001:Or4a2 UTSW 2 89,248,297 (GRCm39) missense probably damaging 1.00
R0271:Or4a2 UTSW 2 89,248,502 (GRCm39) missense probably benign 0.00
R0521:Or4a2 UTSW 2 89,248,544 (GRCm39) missense probably damaging 1.00
R0667:Or4a2 UTSW 2 89,248,032 (GRCm39) missense probably benign 0.05
R1738:Or4a2 UTSW 2 89,248,362 (GRCm39) missense probably benign 0.02
R1955:Or4a2 UTSW 2 89,248,755 (GRCm39) start codon destroyed probably damaging 1.00
R3114:Or4a2 UTSW 2 89,248,757 (GRCm39) splice site probably null
R4110:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4111:Or4a2 UTSW 2 89,248,444 (GRCm39) missense probably benign 0.01
R4796:Or4a2 UTSW 2 89,248,235 (GRCm39) missense probably damaging 0.99
R4951:Or4a2 UTSW 2 89,248,116 (GRCm39) missense probably benign 0.01
R5751:Or4a2 UTSW 2 89,248,031 (GRCm39) missense probably damaging 1.00
R6331:Or4a2 UTSW 2 89,248,695 (GRCm39) missense probably benign 0.04
R7249:Or4a2 UTSW 2 89,248,217 (GRCm39) missense probably damaging 1.00
R7352:Or4a2 UTSW 2 89,248,311 (GRCm39) missense probably damaging 1.00
R7493:Or4a2 UTSW 2 89,248,145 (GRCm39) missense probably benign 0.08
R7589:Or4a2 UTSW 2 89,248,724 (GRCm39) missense possibly damaging 0.82
R9091:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9270:Or4a2 UTSW 2 89,248,712 (GRCm39) missense probably damaging 1.00
R9749:Or4a2 UTSW 2 89,248,662 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TGGTCATAAGTTTTCCCAGCTC -3'
(R):5'- GCTCCCATATCACTGTGGTAGTC -3'

Sequencing Primer
(F):5'- AGTTTTCCCAGCTCTCAAAAATC -3'
(R):5'- CATATCACTGTGGTAGTCCTCTTC -3'
Posted On 2019-10-07