Incidental Mutation 'R8100:Or4a47'
ID 630435
Institutional Source Beutler Lab
Gene Symbol Or4a47
Ensembl Gene ENSMUSG00000075073
Gene Name olfactory receptor family 4 subfamily A member 47
Synonyms MOR231-1, Olfr1256, GA_x6K02T2Q125-51276848-51275928
MMRRC Submission 067532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R8100 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 89665367-89666287 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 89666029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 87 (Q87*)
Ref Sequence ENSEMBL: ENSMUSP00000150906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099763] [ENSMUST00000111520] [ENSMUST00000213833] [ENSMUST00000215613]
AlphaFold Q8VGP1
Predicted Effect probably null
Transcript: ENSMUST00000099763
AA Change: Q87*
SMART Domains Protein: ENSMUSP00000097351
Gene: ENSMUSG00000075073
AA Change: Q87*

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 5.3e-28 PFAM
Pfam:7tm_4 137 278 7.1e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000111520
AA Change: Q87*
SMART Domains Protein: ENSMUSP00000107145
Gene: ENSMUSG00000075073
AA Change: Q87*

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-47 PFAM
Pfam:7TM_GPCR_Srsx 33 300 1.1e-5 PFAM
Pfam:7tm_1 39 285 1.3e-16 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000213833
AA Change: Q87*
Predicted Effect probably null
Transcript: ENSMUST00000215613
AA Change: Q87*
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 G A 14: 56,009,722 (GRCm39) Q777* probably null Het
Art1 T C 7: 101,756,405 (GRCm39) S199P probably damaging Het
Cadps2 A T 6: 23,838,808 (GRCm39) M110K probably damaging Het
Cdk13 C T 13: 17,978,101 (GRCm39) R379Q unknown Het
Cdk7 T C 13: 100,842,925 (GRCm39) I272V probably benign Het
Cep350 T C 1: 155,829,148 (GRCm39) D192G probably damaging Het
Chrna6 C T 8: 27,903,844 (GRCm39) probably benign Het
Ciart G A 3: 95,788,656 (GRCm39) P61L probably damaging Het
Ckmt1 T A 2: 121,191,258 (GRCm39) D223E probably benign Het
Col6a5 C T 9: 105,755,839 (GRCm39) R2195H probably damaging Het
D430041D05Rik C T 2: 104,087,287 (GRCm39) R563H probably benign Het
Defa29 A T 8: 21,816,990 (GRCm39) M1K probably null Het
Dnah11 A G 12: 117,930,368 (GRCm39) S3326P probably damaging Het
Dsg3 A G 18: 20,662,028 (GRCm39) D431G probably benign Het
Ell3 TCTCCTC TCTC 2: 121,269,937 (GRCm39) probably benign Het
Fbln1 T A 15: 85,169,357 (GRCm39) F699I probably damaging Het
Fndc1 A G 17: 7,990,685 (GRCm39) S1004P unknown Het
Gpr15 T A 16: 58,538,076 (GRCm39) T338S probably benign Het
Grin2d T C 7: 45,483,171 (GRCm39) Y1002C unknown Het
Hk2 C T 6: 82,707,859 (GRCm39) M703I probably benign Het
Ifi213 A C 1: 173,422,748 (GRCm39) L39R probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lama2 C A 10: 26,917,113 (GRCm39) A2271S probably benign Het
Lmo7 A T 14: 102,137,899 (GRCm39) Q867L probably benign Het
Loxhd1 T A 18: 77,492,512 (GRCm39) S1427T possibly damaging Het
Lzts1 A G 8: 69,593,397 (GRCm39) V70A probably damaging Het
Mocs3 A G 2: 168,073,257 (GRCm39) T235A possibly damaging Het
Myo15a G A 11: 60,408,016 (GRCm39) R3168H probably damaging Het
Ndc1 A G 4: 107,240,802 (GRCm39) D260G possibly damaging Het
Nfam1 T C 15: 82,900,730 (GRCm39) D44G probably damaging Het
Osbpl10 G A 9: 114,996,322 (GRCm39) R128H probably benign Het
Otx1 C A 11: 21,949,392 (GRCm39) V29L probably benign Het
Pogk A T 1: 166,229,511 (GRCm39) D113E possibly damaging Het
Ptgs2 T C 1: 149,978,472 (GRCm39) F195L probably damaging Het
Ptpn21 T A 12: 98,648,881 (GRCm39) E925V possibly damaging Het
Ranbp2 T C 10: 58,326,470 (GRCm39) F2714L possibly damaging Het
Rbm20 T G 19: 53,839,744 (GRCm39) I911S possibly damaging Het
Rwdd2b A G 16: 87,233,509 (GRCm39) V197A possibly damaging Het
Sel1l2 C G 2: 140,117,329 (GRCm39) A181P probably damaging Het
Sf1 A G 19: 6,422,368 (GRCm39) E234G possibly damaging Het
Skint2 A C 4: 112,483,197 (GRCm39) T201P probably damaging Het
Sra1 C T 18: 36,809,948 (GRCm39) R199H probably damaging Het
Svs5 A G 2: 164,079,712 (GRCm39) M65T probably benign Het
Tgif1 C A 17: 71,153,544 (GRCm39) probably benign Het
Tmem184c A G 8: 78,331,411 (GRCm39) W113R possibly damaging Het
Tmem30a T C 9: 79,681,432 (GRCm39) R282G probably benign Het
Top1 T A 2: 160,540,155 (GRCm39) Y244* probably null Het
Trank1 A G 9: 111,221,861 (GRCm39) Y2866C probably damaging Het
Trim7 A C 11: 48,740,346 (GRCm39) I148L probably damaging Het
Triml1 T A 8: 43,591,717 (GRCm39) M214L probably benign Het
Usp30 T G 5: 114,249,245 (GRCm39) V183G probably damaging Het
Vmn1r175 G A 7: 23,508,012 (GRCm39) S205F probably damaging Het
Zbtb32 CTTG CTTGTTG 7: 30,290,946 (GRCm39) probably benign Het
Zfp108 T A 7: 23,960,602 (GRCm39) C398S probably damaging Het
Zfp592 T G 7: 80,673,940 (GRCm39) D301E probably benign Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Or4a47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Or4a47 APN 2 89,665,802 (GRCm39) nonsense probably null
IGL01082:Or4a47 APN 2 89,674,407 (GRCm39) unclassified probably benign
IGL01613:Or4a47 APN 2 89,666,152 (GRCm39) missense probably damaging 0.98
IGL01969:Or4a47 APN 2 89,666,064 (GRCm39) missense probably benign 0.01
IGL02625:Or4a47 APN 2 89,665,740 (GRCm39) missense probably damaging 1.00
R0843:Or4a47 UTSW 2 89,665,960 (GRCm39) missense probably benign 0.01
R1270:Or4a47 UTSW 2 89,665,666 (GRCm39) missense possibly damaging 0.90
R1521:Or4a47 UTSW 2 89,665,516 (GRCm39) nonsense probably null
R2219:Or4a47 UTSW 2 89,665,769 (GRCm39) missense probably damaging 1.00
R2881:Or4a47 UTSW 2 89,675,328 (GRCm39) splice site probably null
R3121:Or4a47 UTSW 2 89,665,858 (GRCm39) missense probably benign
R3609:Or4a47 UTSW 2 89,665,420 (GRCm39) missense probably damaging 0.99
R4984:Or4a47 UTSW 2 89,666,157 (GRCm39) missense probably damaging 1.00
R5153:Or4a47 UTSW 2 89,665,578 (GRCm39) missense possibly damaging 0.77
R5640:Or4a47 UTSW 2 89,666,282 (GRCm39) missense probably benign 0.08
R7198:Or4a47 UTSW 2 89,666,076 (GRCm39) missense probably damaging 1.00
R7862:Or4a47 UTSW 2 89,665,468 (GRCm39) missense probably benign 0.16
R8487:Or4a47 UTSW 2 89,665,609 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- ACTGAGCTGAATTACTGAGTGC -3'
(R):5'- TTGGGCCTCTCAGAGAATCC -3'

Sequencing Primer
(F):5'- TTACTGAGTGCAAAAATCCTCCG -3'
(R):5'- TCCAAAGGTGCAGAAAGGACTTTTC -3'
Posted On 2020-06-30