Incidental Mutation 'R4568:Ripply3'
ID 341960
Institutional Source Beutler Lab
Gene Symbol Ripply3
Ensembl Gene ENSMUSG00000022941
Gene Name ripply transcriptional repressor 3
Synonyms Dscr6
MMRRC Submission 041792-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.210) question?
Stock # R4568 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 94129281-94137794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94136688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 116 (D116E)
Ref Sequence ENSEMBL: ENSMUSP00000023660 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023660]
AlphaFold Q924S9
Predicted Effect probably damaging
Transcript: ENSMUST00000023660
AA Change: D116E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023660
Gene: ENSMUSG00000022941
AA Change: D116E

DomainStartEndE-ValueType
Pfam:Ripply 39 127 6.2e-35 PFAM
Meta Mutation Damage Score 0.1495 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (36/36)
MGI Phenotype PHENOTYPE: Homozygotes for a reporter allele show complete neonatal lethality, abnormal development of the pharyngeal apparatus and its derivatives including ectopic formation of the thymus and the parathyroid gland, and cardiovascular defects such as deletion of the aortic arch and misshapen great vessels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 T A 7: 119,162,740 (GRCm39) W5R probably benign Het
Bik T C 15: 83,425,645 (GRCm39) probably null Het
Col6a1 A T 10: 76,555,031 (GRCm39) probably benign Het
Crem A G 18: 3,299,175 (GRCm39) I83T probably damaging Het
Csn1s1 G A 5: 87,828,763 (GRCm39) V276I possibly damaging Het
Ctnna3 C T 10: 63,688,588 (GRCm39) T344M possibly damaging Het
Dgcr8 G A 16: 18,098,258 (GRCm39) P378S probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Gpr139 C T 7: 118,744,028 (GRCm39) V186M probably damaging Het
Krba1 A G 6: 48,386,657 (GRCm39) T422A probably damaging Het
Lgals8 T G 13: 12,468,254 (GRCm39) Y125S probably damaging Het
Map4k1 G A 7: 28,686,079 (GRCm39) G107D probably damaging Het
Mfsd6 A T 1: 52,702,448 (GRCm39) Y599* probably null Het
Omt2b T A 9: 78,235,529 (GRCm39) probably benign Het
Or1d2 A G 11: 74,256,035 (GRCm39) E180G probably damaging Het
Or9s15 A T 1: 92,525,113 (GRCm39) M291L probably benign Het
Pga5 A G 19: 10,649,216 (GRCm39) Y235H probably damaging Het
Phldb2 T A 16: 45,598,081 (GRCm39) K869* probably null Het
Pik3cb T C 9: 98,972,355 (GRCm39) M268V probably benign Het
Pla2g4a T C 1: 149,717,977 (GRCm39) D624G probably benign Het
Plxna4 T A 6: 32,129,873 (GRCm39) I1817F probably damaging Het
Psmg3 A G 5: 139,812,004 (GRCm39) I32T probably damaging Het
Ptpn4 T C 1: 119,607,789 (GRCm39) E757G probably damaging Het
Rasl2-9 AGG A 7: 5,128,374 (GRCm39) probably null Het
Robo4 T C 9: 37,316,118 (GRCm39) V263A possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Spef2 T C 15: 9,647,303 (GRCm39) H1008R probably damaging Het
Stag1 T C 9: 100,730,722 (GRCm39) V379A probably damaging Het
Tasor A T 14: 27,198,658 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,997,806 (GRCm39) E1121G probably benign Het
Tpr T C 1: 150,268,710 (GRCm39) probably benign Het
Trpv6 G T 6: 41,603,503 (GRCm39) P206H probably damaging Het
Vmn2r63 T C 7: 42,583,250 (GRCm39) probably null Het
Vmn2r65 C T 7: 84,596,677 (GRCm39) C126Y probably damaging Het
Other mutations in Ripply3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01431:Ripply3 APN 16 94,129,402 (GRCm39) missense possibly damaging 0.89
R0271:Ripply3 UTSW 16 94,136,616 (GRCm39) missense possibly damaging 0.82
R7400:Ripply3 UTSW 16 94,136,759 (GRCm39) missense probably benign 0.32
R8021:Ripply3 UTSW 16 94,129,369 (GRCm39) missense probably benign 0.05
R8815:Ripply3 UTSW 16 94,136,723 (GRCm39) missense possibly damaging 0.79
R9632:Ripply3 UTSW 16 94,134,139 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- ACAAGGAACAGGGGCTTTTG -3'
(R):5'- GGCTCCCTTCATTTGCTAGAG -3'

Sequencing Primer
(F):5'- TTGGTGGAAGCTTGCCCC -3'
(R):5'- TCATTTGCTAGAGCTCTCGC -3'
Posted On 2015-09-24