Incidental Mutation 'R5627:Or4a70'
ID 441867
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 043166-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R5627 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89324388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 89 (N89K)
Ref Sequence ENSEMBL: ENSMUSP00000149368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect probably benign
Transcript: ENSMUST00000099777
AA Change: N89K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: N89K

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 probably benign
Transcript: ENSMUST00000111540
AA Change: N89K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: N89K

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 probably benign
Transcript: ENSMUST00000143935
AA Change: N89K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000216001
AA Change: N89K

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.8%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb8 C T 5: 24,605,137 (GRCm39) R108C possibly damaging Het
Abl1 T C 2: 31,690,595 (GRCm39) W705R probably benign Het
Alpk1 A T 3: 127,474,296 (GRCm39) V569D probably damaging Het
Ano3 T C 2: 110,587,298 (GRCm39) N425S possibly damaging Het
Atad2b A G 12: 4,967,911 (GRCm39) D68G probably benign Het
Cacna1e A G 1: 154,511,604 (GRCm39) I173T probably damaging Het
Cenpe G T 3: 134,941,234 (GRCm39) L716F possibly damaging Het
Cep85 A T 4: 133,861,408 (GRCm39) L622Q probably damaging Het
Cep97 A G 16: 55,745,330 (GRCm39) probably null Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chil5 A G 3: 105,926,951 (GRCm39) L228P probably damaging Het
Col22a1 T C 15: 71,853,767 (GRCm39) E265G probably damaging Het
Col3a1 T C 1: 45,370,720 (GRCm39) probably benign Het
Cyp3a59 T A 5: 146,049,664 (GRCm39) D497E probably benign Het
Egfem1 G T 3: 29,722,548 (GRCm39) E175* probably null Het
Eif4g2 A G 7: 110,673,446 (GRCm39) Y778H probably benign Het
Fam98b T C 2: 117,098,414 (GRCm39) C295R probably damaging Het
Gm3149 A T 14: 15,702,790 (GRCm39) I246L probably benign Het
Gm5134 A G 10: 75,821,942 (GRCm39) T259A possibly damaging Het
Gm5150 A G 3: 16,017,564 (GRCm39) Y236H probably damaging Het
Golga2 C A 2: 32,196,059 (GRCm39) Y864* probably null Het
Inpp4a A G 1: 37,406,854 (GRCm39) D199G probably damaging Het
Inpp4b T C 8: 82,470,445 (GRCm39) probably benign Het
Kremen1 T C 11: 5,149,709 (GRCm39) T321A probably benign Het
Map3k3 A G 11: 106,039,428 (GRCm39) S250G probably benign Het
Mtmr10 A T 7: 63,986,500 (GRCm39) K526M probably damaging Het
Nbea C T 3: 55,899,766 (GRCm39) C1461Y probably damaging Het
Nckap5l A T 15: 99,325,587 (GRCm39) N305K possibly damaging Het
Nup210l A T 3: 90,051,557 (GRCm39) Y567F probably damaging Het
Or11g26 A G 14: 50,753,257 (GRCm39) M199V probably benign Het
Or14c39 G T 7: 86,344,347 (GRCm39) V228F possibly damaging Het
Or56b2 G A 7: 104,337,377 (GRCm39) V52M probably benign Het
Or5b96 T A 19: 12,867,663 (GRCm39) I93F probably damaging Het
Or5g25 T A 2: 85,477,991 (GRCm39) I225F probably damaging Het
Rcc1 T C 4: 132,065,454 (GRCm39) R57G probably damaging Het
Rfx7 C T 9: 72,440,066 (GRCm39) probably benign Het
Saraf T A 8: 34,621,799 (GRCm39) M1K probably null Het
Serpinb9d C T 13: 33,386,676 (GRCm39) T248I probably damaging Het
Slc38a6 A G 12: 73,390,457 (GRCm39) I254M possibly damaging Het
Slc6a5 A G 7: 49,561,522 (GRCm39) D18G possibly damaging Het
Supt20 A G 3: 54,620,611 (GRCm39) D389G possibly damaging Het
Tecpr2 T A 12: 110,907,916 (GRCm39) I1001K probably damaging Het
Vcan CAAAA CAA 13: 89,839,254 (GRCm39) probably null Het
Wdr36 T A 18: 32,994,691 (GRCm39) D717E possibly damaging Het
Zfp318 T C 17: 46,724,062 (GRCm39) S2022P 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
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
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'- GATGCCTCCAACTCCAGCTATC -3'
(R):5'- TAGTCAAGATCCTGCTGGGC -3'

Sequencing Primer
(F):5'- GCTATCAGCAATAGAAGAATGCAC -3'
(R):5'- CCTGCTGGGCAAAAAGTATTATTTG -3'
Posted On 2016-11-08