Incidental Mutation 'R5140:Or4a74'
ID 396380
Institutional Source Beutler Lab
Gene Symbol Or4a74
Ensembl Gene ENSMUSG00000075081
Gene Name olfactory receptor family 4 subfamily A member 74
Synonyms GA_x6K02T2Q125-51051555-51050611, Olfr1247, MOR231-6
MMRRC Submission 042726-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R5140 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 89439433-89440497 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89439627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 273 (Y273C)
Ref Sequence ENSEMBL: ENSMUSP00000149408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099771] [ENSMUST00000111532] [ENSMUST00000216424]
AlphaFold A2AT78
Predicted Effect probably damaging
Transcript: ENSMUST00000099771
AA Change: Y273C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097359
Gene: ENSMUSG00000075081
AA Change: Y273C

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 4.9e-29 PFAM
Pfam:7tm_4 137 278 4.2e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111532
AA Change: Y273C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081
AA Change: Y273C

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.2e-48 PFAM
Pfam:7tm_1 39 285 1.6e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216424
AA Change: Y273C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.4280 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 98% (59/60)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T A 5: 8,752,154 (GRCm39) I405N probably damaging Het
Abhd17b T C 19: 21,661,545 (GRCm39) L244P probably damaging Het
Aebp2 T A 6: 140,579,532 (GRCm39) C34* probably null Het
Arhgap33 A G 7: 30,227,726 (GRCm39) V491A probably damaging Het
Cacul1 C T 19: 60,551,619 (GRCm39) R201Q probably benign Het
Cald1 T A 6: 34,730,515 (GRCm39) N77K probably damaging Het
Clcn6 A C 4: 148,122,774 (GRCm39) probably benign Het
Copb1 A T 7: 113,846,035 (GRCm39) H178Q probably benign Het
Dnah17 C T 11: 117,977,771 (GRCm39) V1854I probably damaging Het
Dnajc16 T G 4: 141,491,994 (GRCm39) T610P possibly damaging Het
Enpp1 T C 10: 24,528,750 (GRCm39) N624S possibly damaging Het
F2 CAGAAAG CAG 2: 91,465,302 (GRCm39) probably benign Het
Foxn1 T C 11: 78,252,459 (GRCm39) T310A probably benign Het
Galnt16 T A 12: 80,628,073 (GRCm39) D256E possibly damaging Het
Gbp11 T C 5: 105,478,919 (GRCm39) D173G probably damaging Het
Glmn A G 5: 107,718,066 (GRCm39) S284P probably damaging Het
Gm3985 A G 8: 33,380,693 (GRCm39) noncoding transcript Het
Hs3st6 A T 17: 24,977,521 (GRCm39) M334L probably benign Het
Idua T A 5: 108,828,180 (GRCm39) D155E probably damaging Het
Kdm6b T C 11: 69,290,881 (GRCm39) probably benign Het
Kiss1r T C 10: 79,757,461 (GRCm39) F272L probably damaging Het
Krt35 T C 11: 99,985,343 (GRCm39) K233E probably damaging Het
Krt36 C T 11: 99,994,328 (GRCm39) V250M probably damaging Het
Lhpp T C 7: 132,307,361 (GRCm39) Y253H probably damaging Het
Npas3 T A 12: 53,547,897 (GRCm39) L51* probably null Het
Or10ac1 T C 6: 42,515,449 (GRCm39) H169R probably benign Het
Or1j18 T A 2: 36,624,510 (GRCm39) M59K possibly damaging Het
Or4c119 T C 2: 88,987,451 (GRCm39) K23E probably benign Het
Or56b2 T C 7: 104,338,107 (GRCm39) M295T probably benign Het
Pcdhb9 T G 18: 37,534,186 (GRCm39) V60G probably benign Het
Prkce T C 17: 86,789,570 (GRCm39) V239A probably benign Het
Ralgapa1 C T 12: 55,822,937 (GRCm39) C293Y probably damaging Het
Ralgapa1 C T 12: 55,712,459 (GRCm39) R1804Q probably damaging Het
Rnf26 C A 9: 44,024,071 (GRCm39) probably null Het
Safb2 T C 17: 56,884,901 (GRCm39) D178G probably benign Het
Scn9a C T 2: 66,395,511 (GRCm39) V178M possibly damaging Het
Sergef A G 7: 46,285,026 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,190,544 (GRCm39) G7R probably benign Het
Setd2 C A 9: 110,380,197 (GRCm39) D1337E probably benign Het
Shprh T A 10: 11,030,449 (GRCm39) M222K probably benign Het
Slc25a40 T C 5: 8,480,486 (GRCm39) Y79H probably damaging Het
Slc41a2 A G 10: 83,133,155 (GRCm39) M297T probably damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Spcs1 A G 14: 30,722,570 (GRCm39) L83S probably benign Het
Sult1c2 T C 17: 54,276,743 (GRCm39) N106S probably benign Het
Szt2 C T 4: 118,244,178 (GRCm39) R1309Q possibly damaging Het
Ube3c T A 5: 29,840,709 (GRCm39) F695I probably damaging Het
Uimc1 A G 13: 55,223,330 (GRCm39) L314P probably damaging Het
Usp17le C T 7: 104,418,645 (GRCm39) E166K probably damaging Het
Vmn2r92 G A 17: 18,372,312 (GRCm39) D41N probably benign Het
Other mutations in Or4a74
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Or4a74 APN 2 89,440,191 (GRCm39) missense probably benign 0.00
IGL01337:Or4a74 APN 2 89,439,720 (GRCm39) missense probably damaging 0.97
IGL02537:Or4a74 APN 2 89,439,739 (GRCm39) missense possibly damaging 0.88
IGL02651:Or4a74 APN 2 89,439,842 (GRCm39) missense possibly damaging 0.67
IGL02734:Or4a74 APN 2 89,440,303 (GRCm39) missense probably benign 0.04
IGL03177:Or4a74 APN 2 89,439,826 (GRCm39) missense probably benign 0.03
IGL03184:Or4a74 APN 2 89,439,912 (GRCm39) missense probably damaging 1.00
R0207:Or4a74 UTSW 2 89,440,207 (GRCm39) missense probably damaging 0.97
R0278:Or4a74 UTSW 2 89,440,108 (GRCm39) missense probably damaging 1.00
R0278:Or4a74 UTSW 2 89,440,107 (GRCm39) missense probably damaging 1.00
R0601:Or4a74 UTSW 2 89,439,564 (GRCm39) missense probably benign 0.00
R0633:Or4a74 UTSW 2 89,439,718 (GRCm39) missense probably benign 0.10
R1824:Or4a74 UTSW 2 89,439,693 (GRCm39) missense probably damaging 1.00
R1863:Or4a74 UTSW 2 89,440,053 (GRCm39) nonsense probably null
R2073:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R2074:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R2075:Or4a74 UTSW 2 89,439,822 (GRCm39) missense probably benign 0.01
R3921:Or4a74 UTSW 2 89,439,853 (GRCm39) missense probably benign 0.00
R4559:Or4a74 UTSW 2 89,440,043 (GRCm39) missense probably damaging 0.99
R5128:Or4a74 UTSW 2 89,439,647 (GRCm39) missense probably damaging 1.00
R5426:Or4a74 UTSW 2 89,440,083 (GRCm39) missense probably damaging 1.00
R5896:Or4a74 UTSW 2 89,439,667 (GRCm39) missense probably damaging 0.98
R5902:Or4a74 UTSW 2 89,439,595 (GRCm39) missense probably damaging 1.00
R6478:Or4a74 UTSW 2 89,439,790 (GRCm39) missense probably damaging 1.00
R7143:Or4a74 UTSW 2 89,440,363 (GRCm39) missense probably benign 0.00
R7221:Or4a74 UTSW 2 89,440,272 (GRCm39) missense probably damaging 1.00
R7599:Or4a74 UTSW 2 89,439,571 (GRCm39) missense possibly damaging 0.89
R8709:Or4a74 UTSW 2 89,440,366 (GRCm39) missense probably benign 0.00
R8711:Or4a74 UTSW 2 89,440,291 (GRCm39) missense probably benign 0.05
R8721:Or4a74 UTSW 2 89,440,186 (GRCm39) missense probably benign 0.05
R9278:Or4a74 UTSW 2 89,439,948 (GRCm39) missense probably damaging 1.00
R9630:Or4a74 UTSW 2 89,440,349 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGTCAAGTGGGATGTCC -3'
(R):5'- CCTCACGGTAGTTGCCAATAATG -3'

Sequencing Primer
(F):5'- GAAAATGTGCTCACCTTCAATAGTC -3'
(R):5'- CATGTGTATGGTAGTCTTTGTCCTTC -3'
Posted On 2016-06-21