Incidental Mutation 'R6898:Or4a70'
ID 538439
Institutional Source Beutler Lab
Gene Symbol Or4a70
Ensembl Gene ENSMUSG00000075085
Gene Name olfactory receptor family 4 subfamily A member 70
Synonyms GA_x6K02T2Q125-50937307-50936387, Olfr1242, MOR231-5
MMRRC Submission 044992-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6898 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89324594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 21 (G21R)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099777
AA Change: G21R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: G21R

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.8e-43 PFAM
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.6e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111540
AA Change: G21R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: G21R

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 3.4e-5 PFAM
Pfam:7tm_1 39 285 1.5e-26 PFAM
Pfam:7tm_4 137 278 5.3e-36 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000143935
AA Change: G21R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216001
AA Change: G21R

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.5%
Validation Efficiency 100% (46/46)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd7 G T 6: 18,868,100 (GRCm39) probably null Het
Aoc1l2 A T 6: 48,907,975 (GRCm39) Y325F probably damaging Het
Aplnr A T 2: 84,970,155 (GRCm39) probably benign Het
Capns2 T C 8: 93,628,605 (GRCm39) S165P probably damaging Het
Col25a1 T C 3: 130,378,377 (GRCm39) probably null Het
Crocc2 T C 1: 93,143,304 (GRCm39) V1302A probably benign Het
Cul9 C A 17: 46,821,952 (GRCm39) R1841M possibly damaging Het
Dnhd1 T C 7: 105,336,584 (GRCm39) L1213P probably damaging Het
Dscam A T 16: 96,631,100 (GRCm39) I305K probably benign Het
Dsp A G 13: 38,376,193 (GRCm39) E1326G possibly damaging Het
Eif4a3l1 T A 6: 136,305,617 (GRCm39) V26E probably benign Het
Emc9 A G 14: 55,822,367 (GRCm39) probably null Het
Eppk1 A C 15: 75,996,126 (GRCm39) S252A probably benign Het
Fn1 T A 1: 71,639,572 (GRCm39) T1830S probably damaging Het
Fryl A T 5: 73,179,485 (GRCm39) M2974K probably damaging Het
Gdpd3 C A 7: 126,370,201 (GRCm39) S250* probably null Het
Gnl3 A T 14: 30,735,136 (GRCm39) S485R probably benign Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Hsd17b3 T C 13: 64,207,339 (GRCm39) Y234C probably benign Het
Lima1 T C 15: 99,679,148 (GRCm39) H271R possibly damaging Het
Nfu1 G A 6: 86,994,034 (GRCm39) probably null Het
Noto A G 6: 85,404,942 (GRCm39) E97G probably damaging Het
Ntng1 T C 3: 109,779,534 (GRCm39) K348E probably damaging Het
Or2y13 G A 11: 49,414,536 (GRCm39) probably benign Het
Osmr C A 15: 6,845,364 (GRCm39) V801F probably damaging Het
Papln A G 12: 83,824,234 (GRCm39) E554G probably benign Het
Pitrm1 T C 13: 6,605,495 (GRCm39) L175P probably damaging Het
Pramel22 A T 4: 143,382,053 (GRCm39) N214K probably damaging Het
Pramel7 T C 2: 87,320,070 (GRCm39) T408A probably damaging Het
Serinc2 A T 4: 130,149,235 (GRCm39) D322E probably benign Het
Setx T C 2: 29,038,120 (GRCm39) V1535A probably benign Het
Sgce A T 6: 4,689,666 (GRCm39) V389E probably damaging Het
Snx11 G A 11: 96,659,888 (GRCm39) T267I probably benign Het
Spata6l T G 19: 28,921,688 (GRCm39) Q146P probably benign Het
Specc1 G A 11: 62,009,162 (GRCm39) S306N probably benign Het
Spocd1 A G 4: 129,850,305 (GRCm39) probably benign Het
St7 T A 6: 17,854,945 (GRCm39) V294D probably damaging Het
Stab1 C T 14: 30,880,920 (GRCm39) R624Q probably benign Het
Tcf21 T C 10: 22,695,403 (GRCm39) I134V probably benign Het
Tgfb2 T A 1: 186,364,697 (GRCm39) I266F probably damaging Het
Tgfbr3l A G 8: 4,300,365 (GRCm39) I209M possibly damaging Het
Tmcc3 A G 10: 94,387,034 (GRCm39) probably null Het
Toe1 A G 4: 116,664,671 (GRCm39) S16P probably damaging Het
Vps16 T C 2: 130,279,601 (GRCm39) V38A possibly damaging Het
Wnk2 G T 13: 49,224,557 (GRCm39) D1001E probably damaging Het
Other mutations in Or4a70
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01094:Or4a70 APN 2 89,324,182 (GRCm39) missense probably benign 0.03
IGL01573:Or4a70 APN 2 89,324,545 (GRCm39) missense probably damaging 0.99
IGL02707:Or4a70 APN 2 89,324,171 (GRCm39) missense probably damaging 1.00
IGL02731:Or4a70 APN 2 89,323,801 (GRCm39) missense probably damaging 1.00
IGL03253:Or4a70 APN 2 89,324,143 (GRCm39) missense possibly damaging 0.80
IGL03412:Or4a70 APN 2 89,324,555 (GRCm39) missense probably benign 0.02
R2012:Or4a70 UTSW 2 89,324,342 (GRCm39) missense probably benign 0.14
R5386:Or4a70 UTSW 2 89,324,481 (GRCm39) nonsense probably null
R5627:Or4a70 UTSW 2 89,324,388 (GRCm39) missense probably benign 0.03
R5735:Or4a70 UTSW 2 89,323,812 (GRCm39) missense probably damaging 1.00
R6216:Or4a70 UTSW 2 89,324,066 (GRCm39) missense probably damaging 1.00
R6787:Or4a70 UTSW 2 89,324,378 (GRCm39) nonsense probably null
R7375:Or4a70 UTSW 2 89,324,036 (GRCm39) missense possibly damaging 0.86
R7481:Or4a70 UTSW 2 89,324,636 (GRCm39) missense probably benign 0.23
R8026:Or4a70 UTSW 2 89,324,132 (GRCm39) missense probably damaging 1.00
R8037:Or4a70 UTSW 2 89,324,055 (GRCm39) missense possibly damaging 0.95
R8694:Or4a70 UTSW 2 89,324,171 (GRCm39) missense possibly damaging 0.60
R9676:Or4a70 UTSW 2 89,323,780 (GRCm39) missense probably damaging 0.99
Z1177:Or4a70 UTSW 2 89,324,328 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- AGCATGCAAGCTCTGAAGG -3'
(R):5'- GCAATTGAGGCAATGGTTTACATG -3'

Sequencing Primer
(F):5'- CATGCAAGCTCTGAAGGAGATATTC -3'
(R):5'- CATGCTTAAAAGGATTCATAGCCAC -3'
Posted On 2018-11-06