Incidental Mutation 'R7375:Or4a70'
ID 572314
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 045458-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R7375 (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 89324036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 207 (G207R)
Ref Sequence ENSEMBL: ENSMUSP00000107165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect possibly damaging
Transcript: ENSMUST00000099777
AA Change: G207R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: G207R

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: G207R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: G207R

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: G207R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216001
AA Change: G207R

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,968,671 (GRCm39) I337V probably benign Het
Abl2 A G 1: 156,450,184 (GRCm39) D117G probably damaging Het
Arhgap5 T A 12: 52,563,365 (GRCm39) L112* probably null Het
Brinp3 C G 1: 146,777,748 (GRCm39) L732V possibly damaging Het
Ccdc168 A T 1: 44,099,694 (GRCm39) I468N possibly damaging Het
Cfap91 T A 16: 38,155,980 (GRCm39) H81L probably damaging Het
Cmya5 T G 13: 93,228,169 (GRCm39) K2306N probably damaging Het
Col16a1 A C 4: 129,959,294 (GRCm39) K680T unknown Het
Col28a1 T A 6: 7,998,499 (GRCm39) T1137S possibly damaging Het
Crnn A T 3: 93,056,452 (GRCm39) T413S possibly damaging Het
Csf1 A G 3: 107,655,495 (GRCm39) L512P possibly damaging Het
Dlx3 C A 11: 95,011,461 (GRCm39) A105D possibly damaging Het
Dnah3 T G 7: 119,550,900 (GRCm39) T161P probably damaging Het
Dnah7b A G 1: 46,342,794 (GRCm39) D3435G probably damaging Het
Dpp10 A G 1: 123,295,524 (GRCm39) I541T probably benign Het
Efcc1 T C 6: 87,728,838 (GRCm39) V431A possibly damaging Het
Enpp5 T C 17: 44,391,868 (GRCm39) I99T probably benign Het
Gm11232 C T 4: 71,675,583 (GRCm39) W59* probably null Het
Gxylt2 A T 6: 100,727,383 (GRCm39) T166S probably benign Het
Herc6 A T 6: 57,628,791 (GRCm39) probably null Het
Itga2 T C 13: 115,005,753 (GRCm39) I476V probably benign Het
Kcnq5 T C 1: 21,539,710 (GRCm39) T403A possibly damaging Het
Klhl42 A G 6: 146,993,538 (GRCm39) K170R probably benign Het
Klk13 T C 7: 43,370,582 (GRCm39) probably null Het
Krt32 G T 11: 99,972,050 (GRCm39) R433S probably benign Het
Lrp1 G T 10: 127,375,217 (GRCm39) T4461N probably damaging Het
Mapk10 A T 5: 103,124,256 (GRCm39) M256K probably null Het
Mogat2 T C 7: 98,872,905 (GRCm39) K93R probably damaging Het
Myh1 G T 11: 67,101,254 (GRCm39) V677L probably damaging Het
Naip5 G T 13: 100,356,205 (GRCm39) Q1137K not run Het
Naip5 T C 13: 100,356,204 (GRCm39) Q1137R probably benign Het
Oog4 G A 4: 143,165,544 (GRCm39) T201M possibly damaging Het
Pik3c2a T C 7: 115,975,621 (GRCm39) T649A probably damaging Het
Plec T A 15: 76,061,555 (GRCm39) H2794L possibly damaging Het
Pros1 T A 16: 62,744,913 (GRCm39) N509K probably damaging Het
Psme3ip1 G A 8: 95,309,636 (GRCm39) L119F probably benign Het
Psme4 T A 11: 30,722,700 (GRCm39) probably null Het
Ptprf A G 4: 118,070,011 (GRCm39) V1457A probably benign Het
Rad50 A G 11: 53,543,055 (GRCm39) probably null Het
Rfx5 C T 3: 94,866,053 (GRCm39) P451S unknown Het
Scpppq1 G T 5: 104,219,123 (GRCm39) probably null Het
Sdk1 G T 5: 141,984,598 (GRCm39) V728L probably benign Het
Sfxn4 T C 19: 60,847,112 (GRCm39) D57G probably benign Het
Slc10a4 A G 5: 73,169,650 (GRCm39) D425G probably benign Het
Slc17a5 C T 9: 78,495,174 (GRCm39) A26T probably benign Het
Slc22a26 A T 19: 7,760,509 (GRCm39) probably null Het
Slc22a30 A G 19: 8,382,055 (GRCm39) L72P probably damaging Het
Slco6c1 T C 1: 97,009,146 (GRCm39) T447A possibly damaging Het
Slco6d1 A G 1: 98,349,172 (GRCm39) N81S probably damaging Het
Stard9 T C 2: 120,495,483 (GRCm39) probably null Het
Tecpr1 T C 5: 144,145,417 (GRCm39) E610G possibly damaging Het
Tmem81 G T 1: 132,435,301 (GRCm39) V36L possibly damaging Het
Trabd2b G T 4: 114,467,194 (GRCm39) K474N probably benign Het
Tspan33 T C 6: 29,713,519 (GRCm39) F149L probably benign Het
Ttn A G 2: 76,606,683 (GRCm39) Y18076H probably damaging Het
Utrn G A 10: 12,516,764 (GRCm39) R2277C probably damaging Het
Vmn2r101 T A 17: 19,831,652 (GRCm39) D549E probably damaging Het
Vmn2r107 T A 17: 20,576,138 (GRCm39) I156K probably benign Het
Wwc2 T G 8: 48,316,955 (GRCm39) S713R unknown Het
Xndc1 C A 7: 101,730,687 (GRCm39) probably null Het
Zfp810 A G 9: 22,201,833 (GRCm39) probably null 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
R6898:Or4a70 UTSW 2 89,324,594 (GRCm39) missense possibly damaging 0.87
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'- GATTCAGCATGGGACTAACAACTG -3'
(R):5'- TGGAGGCATCTTACACTCACTG -3'

Sequencing Primer
(F):5'- TTATCCACTGGAAAGTTGGAGAC -3'
(R):5'- GGCATCTTACACTCACTGATTCAAG -3'
Posted On 2019-09-13