Incidental Mutation 'R7481:Or4a70'
ID 579785
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 045555-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R7481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89323638-89324690 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89324636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 7 (V7I)
Ref Sequence ENSEMBL: ENSMUSP00000107165 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099777] [ENSMUST00000111540] [ENSMUST00000143935] [ENSMUST00000216001]
AlphaFold Q8VGM6
Predicted Effect probably benign
Transcript: ENSMUST00000099777
AA Change: V7I

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000097365
Gene: ENSMUSG00000075085
AA Change: V7I

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: V7I

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000107165
Gene: ENSMUSG00000075085
AA Change: V7I

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: V7I

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect probably benign
Transcript: ENSMUST00000216001
AA Change: V7I

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik T C 2: 68,494,575 (GRCm39) F68S unknown Het
Abcb6 A G 1: 75,150,248 (GRCm39) F637L probably damaging Het
Aldh3b3 A G 19: 4,014,549 (GRCm39) M95V probably benign Het
Arhgap45 A T 10: 79,858,134 (GRCm39) H387L possibly damaging Het
Avil C T 10: 126,843,460 (GRCm39) T130I probably benign Het
Bmal2 G A 6: 146,720,369 (GRCm39) A178T not run Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
C3 C A 17: 57,527,136 (GRCm39) W771L probably damaging Het
C6 A G 15: 4,844,357 (GRCm39) I926M Het
Cacna1b G A 2: 24,506,874 (GRCm39) L1903F probably damaging Het
Car3 A T 3: 14,928,632 (GRCm39) M1L probably benign Het
Ccdc175 A G 12: 72,202,398 (GRCm39) I299T probably benign Het
Chd9 C T 8: 91,683,066 (GRCm39) T502I unknown Het
Clec4a1 G A 6: 122,904,998 (GRCm39) C99Y probably damaging Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dmbt1 A T 7: 130,681,241 (GRCm39) probably null Het
Dop1a A T 9: 86,417,985 (GRCm39) K1951N probably damaging Het
Dpf3 A C 12: 83,378,701 (GRCm39) L122R probably damaging Het
Edem3 A T 1: 151,683,973 (GRCm39) S687C probably damaging Het
Edem3 G A 1: 151,683,974 (GRCm39) S687N possibly damaging Het
Fig4 A G 10: 41,106,001 (GRCm39) probably null Het
Fmnl2 A G 2: 52,998,443 (GRCm39) T603A unknown Het
Frmd6 T A 12: 70,933,829 (GRCm39) L249Q probably damaging Het
Glrx3 T C 7: 137,046,751 (GRCm39) C48R probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,554 (GRCm39) probably benign Het
Gm6133 A T 18: 78,393,008 (GRCm39) M1L probably benign Het
Gm9195 G A 14: 72,720,116 (GRCm39) T105I probably benign Het
Hk2 G A 6: 82,737,150 (GRCm39) T54I probably benign Het
Jade1 G A 3: 41,559,125 (GRCm39) G402D probably benign Het
Kmt2a T C 9: 44,720,368 (GRCm39) D3873G unknown Het
Map6 A T 7: 98,918,345 (GRCm39) T373S possibly damaging Het
Megf9 T C 4: 70,351,679 (GRCm39) T481A probably damaging Het
Mtcl3 G T 10: 29,072,519 (GRCm39) V604L probably damaging Het
Mtus1 T A 8: 41,537,652 (GRCm39) K21N probably damaging Het
Muc5b C T 7: 141,414,908 (GRCm39) T2618I unknown Het
Nbas A G 12: 13,406,960 (GRCm39) I852M probably damaging Het
Or14j1 T A 17: 38,146,289 (GRCm39) M133K probably damaging Het
Or5b121 A T 19: 13,507,817 (GRCm39) Q304L probably damaging Het
Or5d39 A G 2: 87,980,105 (GRCm39) I86T probably benign Het
Pank4 A G 4: 155,054,495 (GRCm39) N156S probably damaging Het
Pcdhga8 A G 18: 37,860,990 (GRCm39) E682G probably benign Het
Pde10a C A 17: 9,168,262 (GRCm39) D312E possibly damaging Het
Pkhd1l1 A G 15: 44,376,307 (GRCm39) T990A probably benign Het
Rab11fip1 T C 8: 27,646,609 (GRCm39) T156A probably damaging Het
Rhbdd2 T A 5: 135,665,031 (GRCm39) S121T possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,124 (GRCm39) probably benign Het
Ryr3 C A 2: 112,508,438 (GRCm39) R3418S probably benign Het
Ryr3 C A 2: 112,508,439 (GRCm39) R3418M possibly damaging Het
Sbno2 G A 10: 79,893,333 (GRCm39) P1323S probably benign Het
Sec24d T C 3: 123,144,412 (GRCm39) C630R probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Skp2 A T 15: 9,113,905 (GRCm39) V371E probably damaging Het
Strbp A T 2: 37,490,766 (GRCm39) S496R probably benign Het
Stxbp4 G A 11: 90,485,639 (GRCm39) T236I possibly damaging Het
Terf2 C T 8: 107,799,353 (GRCm39) probably null Het
Thnsl1 A T 2: 21,216,599 (GRCm39) T118S probably benign Het
Tlnrd1 A T 7: 83,531,546 (GRCm39) V295E probably damaging Het
Ttll6 A G 11: 96,045,672 (GRCm39) T630A probably benign Het
Usp9y G T Y: 1,432,180 (GRCm39) A435E probably benign Het
Vil1 A C 1: 74,459,058 (GRCm39) R187S probably damaging Het
Vmn2r31 A T 7: 7,387,579 (GRCm39) V664E possibly damaging Het
Wdr17 T C 8: 55,114,371 (GRCm39) I693M probably benign Het
Wdr82 C T 9: 106,053,865 (GRCm39) T72I probably damaging Het
Zbtb5 A G 4: 44,994,905 (GRCm39) S160P probably benign Het
Zfat G A 15: 68,050,715 (GRCm39) Q769* probably null Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Zfp937 T A 2: 150,081,266 (GRCm39) I432K probably benign Het
Zglp1 C T 9: 20,973,903 (GRCm39) S261N probably benign 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
R7375:Or4a70 UTSW 2 89,324,036 (GRCm39) missense possibly damaging 0.86
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'- AGCATCCAGGACTGACAGAC -3'
(R):5'- CAACTAAAATTTGCATGGCGG -3'

Sequencing Primer
(F):5'- CAGGCAAGGAAGAAGTACATTG -3'
(R):5'- TTGCATGGCGGAATAGAATCATC -3'
Posted On 2019-10-07