Incidental Mutation 'R3909:Or4a78'
ID 309292
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 040814-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.272) question?
Stock # R3909 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89497272-89498228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89497357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 291 (E291G)
Ref Sequence ENSEMBL: ENSMUSP00000150028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000214304] [ENSMUST00000214639] [ENSMUST00000214750]
AlphaFold Q7TQZ3
Predicted Effect probably damaging
Transcript: ENSMUST00000099767
AA Change: E291G

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097355
Gene: ENSMUSG00000075077
AA Change: E291G

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.1e-45 PFAM
Pfam:7tm_1 39 285 2.3e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000188085
AA Change: E291G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000140591
Gene: ENSMUSG00000100323
AA Change: E291G

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 1.4e-29 PFAM
Pfam:7tm_4 137 278 2e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214304
AA Change: E291G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214639
AA Change: E291G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000214750
AA Change: E291G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (35/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T A 6: 121,625,125 (GRCm39) F501Y probably damaging Het
Alk T C 17: 72,204,906 (GRCm39) T1089A probably benign Het
Ankrd12 G T 17: 66,291,000 (GRCm39) P1478T probably benign Het
Arhgap39 A G 15: 76,636,088 (GRCm39) V49A probably benign Het
Arid4b T C 13: 14,307,069 (GRCm39) L108P probably damaging Het
Atrn T A 2: 130,836,127 (GRCm39) C1136S probably damaging Het
Cacna1s T A 1: 136,012,007 (GRCm39) M483K probably damaging Het
Cacng1 C A 11: 107,607,118 (GRCm39) V34L probably benign Het
Casp8 T C 1: 58,883,970 (GRCm39) S446P probably damaging Het
Cngb3 G A 4: 19,461,679 (GRCm39) C520Y probably damaging Het
Crim1 C T 17: 78,588,668 (GRCm39) probably benign Het
F11 A G 8: 45,701,675 (GRCm39) S353P probably damaging Het
Fbxl17 G A 17: 63,806,802 (GRCm39) P71S possibly damaging Het
Fn1 C T 1: 71,647,072 (GRCm39) G1482R probably damaging Het
Gbp3 C T 3: 142,272,099 (GRCm39) probably benign Het
Golga4 A G 9: 118,387,804 (GRCm39) D1642G possibly damaging Het
Hspa1a C T 17: 35,190,703 (GRCm39) V67M probably damaging Het
Hyls1 T C 9: 35,472,705 (GRCm39) D237G probably damaging Het
Kmt2e A G 5: 23,706,624 (GRCm39) N1396D probably benign Het
Lasp1 G A 11: 97,690,653 (GRCm39) V12M probably damaging Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Muc5b C T 7: 141,403,235 (GRCm39) T732M unknown Het
Mxd1 G T 6: 86,627,942 (GRCm39) Q199K probably benign Het
Or14a258 T A 7: 86,035,182 (GRCm39) T229S probably benign Het
Or5w18 T A 2: 87,633,031 (GRCm39) F95L probably benign Het
Or5w20 T A 2: 87,727,293 (GRCm39) probably null Het
Prps1l1 A T 12: 35,035,797 (GRCm39) H304L possibly damaging Het
Psmd2 A G 16: 20,474,392 (GRCm39) D316G probably benign Het
Rlf G A 4: 121,006,229 (GRCm39) T917I probably benign Het
Ryr3 T C 2: 112,466,953 (GRCm39) D4704G probably damaging Het
Scn1a T A 2: 66,104,332 (GRCm39) I1643F probably damaging Het
Vmn2r38 T C 7: 9,078,553 (GRCm39) K610E probably damaging Het
Zfc3h1 T C 10: 115,255,806 (GRCm39) F1486L probably benign 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
R2219:Or4a78 UTSW 2 89,498,211 (GRCm39) missense possibly damaging 0.73
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
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'- ACCAGTAGTTTCACAGTATCAAGTG -3'
(R):5'- CCTACTCTCCTATGGAATAATCCTTAG -3'

Sequencing Primer
(F):5'- CAAGTGGTAGTGTGAATGTTCAAGC -3'
(R):5'- TAGATCTCTCAAGAATCACAGTCAGG -3'
Posted On 2015-04-17