Incidental Mutation 'R2219:Or4a78'
ID 241307
Institutional Source Beutler Lab
Gene Symbol Or4a78
Ensembl Gene ENSMUSG00000111567
Gene Name olfactory receptor family 4 subfamily A member 78
Synonyms Olfr1251, GA_x6K02T2Q125-51109312-51108356, MOR231-15P, MOR231-24_p
MMRRC Submission 040221-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R2219 (G1)
Quality Score 201
Status Not validated
Chromosome 2
Chromosomal Location 89497272-89498228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89498211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 6 (N6K)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
AlphaFold Q7TQZ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000099767
AA Change: N6K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: N6K

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 285 2.3e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000188085
AA Change: N6K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: N6K

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.4e-29 PFAM
Pfam:7tm_4 137 278 2e-38 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214304
AA Change: N6K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214639
AA Change: N6K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214750
AA Change: N6K

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik A G 7: 42,095,769 (GRCm39) Y160H probably damaging Het
Adamts16 G A 13: 70,927,637 (GRCm39) probably benign Het
Adgre1 T A 17: 57,708,912 (GRCm39) N34K possibly damaging Het
Ago2 T A 15: 73,018,260 (GRCm39) E59D probably benign Het
Akap8l G T 17: 32,553,605 (GRCm39) Q372K probably benign Het
Aox1 A G 1: 58,388,289 (GRCm39) probably null Het
Apc2 T C 10: 80,144,943 (GRCm39) V618A probably benign Het
Cacna1d A T 14: 29,764,047 (GRCm39) C2140S probably damaging Het
Cadps2 A G 6: 23,410,831 (GRCm39) L671P probably damaging Het
Capn9 C T 8: 125,335,898 (GRCm39) R529* probably null Het
Ccdc180 T A 4: 45,944,949 (GRCm39) N1452K probably damaging Het
Cdh5 A T 8: 104,869,538 (GRCm39) I755F possibly damaging Het
Cdkal1 T A 13: 29,538,741 (GRCm39) M473L probably benign Het
Cfap65 T C 1: 74,943,184 (GRCm39) I1614V probably damaging Het
Champ1 A G 8: 13,930,017 (GRCm39) H725R probably damaging Het
Cntnap5a A T 1: 116,508,369 (GRCm39) T1294S possibly damaging Het
Cops8 A C 1: 90,534,341 (GRCm39) N94T probably benign Het
Cpne7 G T 8: 123,851,177 (GRCm39) V155L probably benign Het
Dhx29 T C 13: 113,089,338 (GRCm39) V703A probably damaging Het
Dhx30 A G 9: 109,916,703 (GRCm39) L575P probably damaging Het
Dmc1 T A 15: 79,469,327 (GRCm39) H156L possibly damaging Het
Dnmt3a A G 12: 3,899,654 (GRCm39) probably benign Het
Dst C G 1: 34,209,514 (GRCm39) L869V probably damaging Het
Eif3d A T 15: 77,849,142 (GRCm39) M180K probably benign Het
Erbb3 T C 10: 128,405,740 (GRCm39) T1173A probably damaging Het
Fat4 A T 3: 39,064,364 (GRCm39) K4773N probably damaging Het
Fbn2 G A 18: 58,186,035 (GRCm39) P1771L possibly damaging Het
Fer1l4 T G 2: 155,873,684 (GRCm39) Y1207S probably damaging Het
Fermt2 G A 14: 45,713,354 (GRCm39) T87I probably benign Het
Fpr3 T A 17: 18,191,644 (GRCm39) M305K possibly damaging Het
Fzd2 A G 11: 102,496,249 (GRCm39) E231G probably benign Het
Ggcx T C 6: 72,404,965 (GRCm39) Y458H probably benign Het
Ggt7 A G 2: 155,337,639 (GRCm39) S504P probably damaging Het
Gm4884 A G 7: 40,692,910 (GRCm39) H293R possibly damaging Het
Gm5475 A G 15: 100,322,094 (GRCm39) probably benign Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Itln1 T A 1: 171,359,115 (GRCm39) T122S probably damaging Het
Itpr3 T A 17: 27,334,027 (GRCm39) L2033Q probably benign Het
Lama2 T C 10: 26,919,565 (GRCm39) D2222G probably damaging Het
Lars2 T C 9: 123,247,845 (GRCm39) L334P probably damaging Het
Ly9 T C 1: 171,425,249 (GRCm39) probably null Het
Man1a T C 10: 53,853,145 (GRCm39) I324M probably damaging Het
Mast3 T C 8: 71,233,607 (GRCm39) E994G probably damaging Het
Mettl21a A T 1: 64,655,442 (GRCm39) V46E probably damaging Het
Mmp15 A G 8: 96,096,801 (GRCm39) D398G probably benign Het
Mybpc1 T A 10: 88,391,540 (GRCm39) D319V probably damaging Het
Or10ad1c T A 15: 98,084,848 (GRCm39) K277* probably null Het
Or4a47 A T 2: 89,665,769 (GRCm39) D173E probably damaging Het
Or4c35 G A 2: 89,808,256 (GRCm39) V45I possibly damaging Het
Or4f61 A T 2: 111,922,752 (GRCm39) I98N probably damaging Het
Or5b113 T A 19: 13,342,901 (GRCm39) I303N possibly damaging Het
Or5p5 G A 7: 107,414,429 (GRCm39) V213I probably benign Het
Or9m1 A C 2: 87,733,269 (GRCm39) Y250* probably null Het
Otogl C T 10: 107,692,838 (GRCm39) C882Y probably damaging Het
Parp10 A G 15: 76,117,783 (GRCm39) Y868H probably damaging Het
Pick1 T A 15: 79,123,899 (GRCm39) I90N probably damaging Het
Piezo1 C T 8: 123,218,227 (GRCm39) V1170I probably benign Het
Pim3 G A 15: 88,747,115 (GRCm39) V54I possibly damaging Het
Pinlyp T C 7: 24,245,433 (GRCm39) probably benign Het
Pira12 A T 7: 3,900,488 (GRCm39) N87K probably benign Het
Ppfia3 G A 7: 45,004,314 (GRCm39) Q473* probably null Het
Rab3gap2 G A 1: 185,008,113 (GRCm39) G1056E probably damaging Het
Ralgapa2 G A 2: 146,263,599 (GRCm39) T706I probably benign Het
Reln T C 5: 22,177,045 (GRCm39) T1874A possibly damaging Het
Rftn1 C A 17: 50,476,173 (GRCm39) M1I probably null Het
Ros1 T A 10: 52,042,175 (GRCm39) Q250L probably damaging Het
Slc11a1 T A 1: 74,419,824 (GRCm39) F166I probably damaging Het
Slc17a9 A G 2: 180,373,755 (GRCm39) T59A probably benign Het
Slc26a5 T C 5: 22,028,476 (GRCm39) K364R probably damaging Het
Slitrk2 T C X: 65,698,754 (GRCm39) I415T probably damaging Het
Stom A G 2: 35,211,613 (GRCm39) I136T possibly damaging Het
Strc G T 2: 121,195,004 (GRCm39) P1728T probably damaging Het
Telo2 C A 17: 25,322,673 (GRCm39) V640F probably benign Het
Tg T C 15: 66,553,782 (GRCm39) V399A probably benign Het
Tmem214 A G 5: 31,030,975 (GRCm39) K383E possibly damaging Het
Tomm40l A T 1: 171,049,550 (GRCm39) L13* probably null Het
Tonsl A T 15: 76,518,840 (GRCm39) N526K probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tymp T A 15: 89,258,965 (GRCm39) M240L probably benign Het
Ubr2 A T 17: 47,296,968 (GRCm39) S271T possibly damaging Het
Uggt2 A T 14: 119,312,749 (GRCm39) N353K probably damaging Het
Ugt2b35 T A 5: 87,151,191 (GRCm39) F266I possibly damaging Het
Vmn2r103 C T 17: 20,013,909 (GRCm39) R234W probably damaging Het
Zfp109 C A 7: 23,927,886 (GRCm39) D508Y probably damaging Het
Zfp623 T C 15: 75,819,379 (GRCm39) S112P possibly damaging Het
Zfp735 A G 11: 73,601,851 (GRCm39) N265S possibly damaging Het
Zfp879 A G 11: 50,724,094 (GRCm39) C321R probably damaging Het
Other mutations in Or4a78
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01817:Or4a78 APN 2 89,497,348 (GRCm39) missense probably benign 0.00
IGL01941:Or4a78 APN 2 89,497,812 (GRCm39) nonsense probably null 0.00
IGL01988:Or4a78 APN 2 89,497,424 (GRCm39) missense probably benign 0.07
IGL02388:Or4a78 APN 2 89,497,316 (GRCm39) missense probably benign 0.00
IGL03169:Or4a78 APN 2 89,497,831 (GRCm39) missense possibly damaging 0.86
R0008:Or4a78 UTSW 2 89,497,428 (GRCm39) missense probably damaging 1.00
R0042:Or4a78 UTSW 2 89,497,798 (GRCm39) missense probably benign 0.01
R0834:Or4a78 UTSW 2 89,497,423 (GRCm39) missense probably benign 0.24
R1102:Or4a78 UTSW 2 89,497,814 (GRCm39) missense probably damaging 0.98
R2213:Or4a78 UTSW 2 89,497,891 (GRCm39) missense probably damaging 1.00
R3023:Or4a78 UTSW 2 89,497,990 (GRCm39) missense possibly damaging 0.86
R3105:Or4a78 UTSW 2 89,497,302 (GRCm39) missense probably benign 0.01
R3433:Or4a78 UTSW 2 89,497,577 (GRCm39) missense probably benign 0.01
R3508:Or4a78 UTSW 2 89,497,816 (GRCm39) missense probably benign 0.14
R3758:Or4a78 UTSW 2 89,497,916 (GRCm39) missense probably benign 0.14
R3909:Or4a78 UTSW 2 89,497,357 (GRCm39) missense probably damaging 0.98
R4049:Or4a78 UTSW 2 89,498,006 (GRCm39) missense probably benign 0.03
R4457:Or4a78 UTSW 2 89,497,427 (GRCm39) missense probably benign 0.24
R5613:Or4a78 UTSW 2 89,497,388 (GRCm39) missense probably damaging 1.00
R5748:Or4a78 UTSW 2 89,498,146 (GRCm39) missense possibly damaging 0.67
R6226:Or4a78 UTSW 2 89,497,333 (GRCm39) missense probably damaging 1.00
R6950:Or4a78 UTSW 2 89,497,895 (GRCm39) missense probably benign 0.07
R9129:Or4a78 UTSW 2 89,497,930 (GRCm39) missense probably damaging 1.00
R9792:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
R9793:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
R9795:Or4a78 UTSW 2 89,497,811 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ATGGCAGTGGAATAAACAGCATCC -3'
(R):5'- TGAAGCTTGTTACAAGATGAAGCTC -3'

Sequencing Primer
(F):5'- ACAGCATCCATGAGTGACAG -3'
(R):5'- CTGTTAACAGGTCATGGG -3'
Posted On 2014-10-15