Incidental Mutation 'R4030:Or4a75'
ID 313151
Institutional Source Beutler Lab
Gene Symbol Or4a75
Ensembl Gene ENSMUSG00000111239
Gene Name olfactory receptor family 4 subfamily A member 75
Synonyms Olfr1248, GA_x6K02T2Q125-51059648-51058725, MOR231-10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4030 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89447512-89448589 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 89448207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 110 (V110F)
Ref Sequence ENSEMBL: ENSMUSP00000140045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111532] [ENSMUST00000186710] [ENSMUST00000216129] [ENSMUST00000216424]
AlphaFold A0A1L1SSZ5
Predicted Effect probably damaging
Transcript: ENSMUST00000099770
AA Change: V110F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097358
Gene: ENSMUSG00000075080
AA Change: V110F

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-49 PFAM
Pfam:7tm_1 39 285 2.2e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111532
SMART Domains Protein: ENSMUSP00000107157
Gene: ENSMUSG00000075081

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: ENSMUST00000186710
AA Change: V110F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: V110F

DomainStartEndE-ValueType
Pfam:7tm_1 39 285 5.1e-28 PFAM
Pfam:7tm_4 137 278 1e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216129
AA Change: V110F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000216424
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019A02Rik A G 1: 53,221,668 (GRCm39) S54P probably benign Het
2700062C07Rik C T 18: 24,608,715 (GRCm39) P145L probably benign Het
Akap3 A T 6: 126,841,984 (GRCm39) D201V probably damaging Het
Ank A G 15: 27,544,343 (GRCm39) N35D probably damaging Het
Bpifb2 T C 2: 153,733,237 (GRCm39) S400P probably benign Het
Brd7 A T 8: 89,059,559 (GRCm39) I617N probably damaging Het
Cdhr2 C A 13: 54,865,674 (GRCm39) P224Q probably damaging Het
Cdon A G 9: 35,403,202 (GRCm39) N1104S probably damaging Het
Ceacam3 T C 7: 16,892,267 (GRCm39) Y337H probably benign Het
Chrna5 T C 9: 54,905,370 (GRCm39) W61R probably damaging Het
Cntnap2 C A 6: 46,833,062 (GRCm39) F758L probably benign Het
Cpsf1 G A 15: 76,485,979 (GRCm39) T397M possibly damaging Het
Crhr2 T C 6: 55,094,662 (GRCm39) D32G probably benign Het
Dip2b A G 15: 100,084,053 (GRCm39) Y892C probably damaging Het
Dpyd A G 3: 118,690,815 (GRCm39) D308G probably benign Het
Dsp A G 13: 38,375,404 (GRCm39) N1063S possibly damaging Het
E030030I06Rik C A 10: 22,024,899 (GRCm39) G5C unknown Het
Ehbp1 T C 11: 22,235,498 (GRCm39) T32A probably damaging Het
Fbxo9 C A 9: 78,005,623 (GRCm39) probably null Het
Gpatch3 G A 4: 133,305,458 (GRCm39) R231H possibly damaging Het
Gpr68 A G 12: 100,845,475 (GRCm39) L23P probably damaging Het
H2-Q6 C A 17: 35,644,792 (GRCm39) Q194K probably benign Het
Hmgb1 A G 5: 148,987,510 (GRCm39) M13T probably benign Het
Kdm5a T A 6: 120,382,074 (GRCm39) L706* probably null Het
Krt12 A T 11: 99,312,854 (GRCm39) F63L unknown Het
Lefty1 T C 1: 180,765,346 (GRCm39) S305P probably benign Het
Lgr4 T C 2: 109,820,096 (GRCm39) S102P probably benign Het
Loxl4 A T 19: 42,596,798 (GRCm39) V71E probably damaging Het
Lrrc36 A C 8: 106,153,439 (GRCm39) N83T probably damaging Het
Med26 G A 8: 73,250,413 (GRCm39) R229C probably damaging Het
Mgam G A 6: 40,731,836 (GRCm39) R1351Q probably damaging Het
Mroh8 T A 2: 157,055,640 (GRCm39) D986V probably damaging Het
Mrpl49 T C 19: 6,105,230 (GRCm39) D77G probably benign Het
Mrps30 T C 13: 118,517,077 (GRCm39) N381D probably damaging Het
Mrtfa G A 15: 80,899,985 (GRCm39) T729I probably benign Het
Omd T A 13: 49,743,125 (GRCm39) N58K probably benign Het
Oog4 A T 4: 143,166,770 (GRCm39) N11K probably benign Het
Plpp5 T A 8: 26,210,631 (GRCm39) L74Q probably damaging Het
Pramel28 T A 4: 143,692,354 (GRCm39) T216S probably benign Het
Prex2 T A 1: 11,278,792 (GRCm39) Y1374N probably benign Het
Rbak A T 5: 143,159,724 (GRCm39) I443K probably damaging Het
Rhpn1 A T 15: 75,582,406 (GRCm39) S195C probably damaging Het
Rnf115 T A 3: 96,693,299 (GRCm39) I210N probably damaging Het
Rock2 G A 12: 17,025,480 (GRCm39) V1234I probably damaging Het
Scube2 A G 7: 109,430,978 (GRCm39) V407A probably benign Het
Serpina3n G T 12: 104,377,660 (GRCm39) probably null Het
Shisal2a G T 4: 108,240,412 (GRCm39) C43* probably null Het
Slco2b1 A G 7: 99,332,032 (GRCm39) L283P probably damaging Het
Spag1 G A 15: 36,234,447 (GRCm39) V736M probably damaging Het
Srebf2 T A 15: 82,062,984 (GRCm39) C434S probably damaging Het
Ston2 T C 12: 91,615,037 (GRCm39) Q457R possibly damaging Het
Trhr2 T C 8: 123,087,438 (GRCm39) M1V probably null Het
Tshz1 T C 18: 84,032,954 (GRCm39) K485E possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vmn2r105 T C 17: 20,429,016 (GRCm39) R687G probably damaging Het
Vmn2r73 T C 7: 85,521,044 (GRCm39) Y308C possibly damaging Het
Wdr49 C A 3: 75,230,972 (GRCm39) L563F probably benign Het
Zfyve9 A G 4: 108,576,898 (GRCm39) V61A possibly damaging Het
Other mutations in Or4a75
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02871:Or4a75 APN 2 89,448,504 (GRCm39) missense probably benign 0.00
PIT4431001:Or4a75 UTSW 2 89,448,201 (GRCm39) missense probably benign 0.00
R0504:Or4a75 UTSW 2 89,448,438 (GRCm39) missense probably damaging 1.00
R0761:Or4a75 UTSW 2 89,448,179 (GRCm39) missense probably damaging 1.00
R2176:Or4a75 UTSW 2 89,447,924 (GRCm39) missense possibly damaging 0.54
R3722:Or4a75 UTSW 2 89,448,503 (GRCm39) missense possibly damaging 0.88
R4440:Or4a75 UTSW 2 89,448,512 (GRCm39) missense probably damaging 1.00
R4756:Or4a75 UTSW 2 89,447,814 (GRCm39) missense possibly damaging 0.86
R4981:Or4a75 UTSW 2 89,447,769 (GRCm39) missense probably damaging 1.00
R5678:Or4a75 UTSW 2 89,447,625 (GRCm39) missense probably benign
R6503:Or4a75 UTSW 2 89,447,922 (GRCm39) missense possibly damaging 0.76
R6569:Or4a75 UTSW 2 89,448,359 (GRCm39) missense possibly damaging 0.83
R6770:Or4a75 UTSW 2 89,448,206 (GRCm39) missense probably benign 0.39
R7823:Or4a75 UTSW 2 89,447,613 (GRCm39) makesense probably null
R8423:Or4a75 UTSW 2 89,448,331 (GRCm39) missense probably damaging 1.00
R8438:Or4a75 UTSW 2 89,448,054 (GRCm39) missense possibly damaging 0.60
R9046:Or4a75 UTSW 2 89,448,496 (GRCm39) unclassified probably benign
RF008:Or4a75 UTSW 2 89,447,711 (GRCm39) missense possibly damaging 0.76
Predicted Primers PCR Primer
(F):5'- GGTCAATGACATTGGGTCCAC -3'
(R):5'- AACCTGCTCATTGTGGGGAC -3'

Sequencing Primer
(F):5'- TCAATGACATTGGGTCCACAAAAAG -3'
(R):5'- ACAGTGATTGCCAGCCC -3'
Posted On 2015-04-30