Incidental Mutation 'R6357:Ripply2'
ID 512384
Institutional Source Beutler Lab
Gene Symbol Ripply2
Ensembl Gene ENSMUSG00000047897
Gene Name ripply transcriptional repressor 2
Synonyms C030002E08Rik, LOC382089
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6357 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 86897590-86901970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 86898331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 58 (S58R)
Ref Sequence ENSEMBL: ENSMUSP00000055369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058846]
AlphaFold Q2WG76
Predicted Effect possibly damaging
Transcript: ENSMUST00000058846
AA Change: S58R

PolyPhen 2 Score 0.494 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000055369
Gene: ENSMUSG00000047897
AA Change: S58R

DomainStartEndE-ValueType
low complexity region 13 28 N/A INTRINSIC
Pfam:Ripply 33 118 2.3e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188187
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, rib and vertebral abnormalities, impaired somite formation, decreased body length, and short tails. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 T C 17: 57,184,591 (GRCm39) probably null Het
Aoc1l2 A G 6: 48,907,908 (GRCm39) M303V probably benign Het
Armh4 A T 14: 50,010,769 (GRCm39) S313T probably benign Het
Calcr T C 6: 3,714,710 (GRCm39) D140G probably benign Het
Card10 T C 15: 78,683,579 (GRCm39) E188G probably damaging Het
Cenpq T C 17: 41,235,418 (GRCm39) E193G probably damaging Het
Cep164 G A 9: 45,682,182 (GRCm39) L1874F probably damaging Het
Dennd3 T C 15: 73,428,321 (GRCm39) M889T possibly damaging Het
Dnah9 T C 11: 65,765,022 (GRCm39) K3841E probably damaging Het
Dynlt2b T G 16: 32,247,873 (GRCm39) probably null Het
Eci2 A G 13: 35,177,082 (GRCm39) V26A possibly damaging Het
Eftud2 A T 11: 102,755,606 (GRCm39) N200K probably damaging Het
Eml5 T A 12: 98,837,143 (GRCm39) H357L probably damaging Het
Esam T C 9: 37,449,076 (GRCm39) *395R probably null Het
Galt C T 4: 41,757,565 (GRCm39) P246S probably benign Het
Gjb3 A T 4: 127,220,423 (GRCm39) Y36* probably null Het
Gli2 T C 1: 118,769,689 (GRCm39) E621G probably damaging Het
Gls T C 1: 52,258,665 (GRCm39) D201G probably damaging Het
Gm10801 C CGTCA 2: 98,494,152 (GRCm39) probably null Het
Gm1110 T C 9: 26,825,424 (GRCm39) probably null Het
Gm5565 T A 5: 146,097,283 (GRCm39) H13L possibly damaging Het
Hydin A C 8: 111,268,289 (GRCm39) T2923P possibly damaging Het
Kank1 A T 19: 25,388,717 (GRCm39) I797L probably benign Het
Klhdc8a A T 1: 132,230,891 (GRCm39) Q252L probably damaging Het
Kmt5c T C 7: 4,745,204 (GRCm39) F65S possibly damaging Het
Lix1 C T 17: 17,666,255 (GRCm39) P138L probably benign Het
Lnpep T C 17: 17,773,176 (GRCm39) N664S probably benign Het
Msh6 T A 17: 88,291,888 (GRCm39) Y214* probably null Het
Nefl A G 14: 68,321,767 (GRCm39) E119G probably damaging Het
Nptxr C A 15: 79,678,516 (GRCm39) R257L possibly damaging Het
Or4k15c C A 14: 50,321,446 (GRCm39) A231S probably damaging Het
Or7e173 T A 9: 19,938,925 (GRCm39) Q103L probably damaging Het
Oxct2b A G 4: 123,010,709 (GRCm39) I210V probably benign Het
Plppr3 T A 10: 79,701,240 (GRCm39) Q534L probably benign Het
Psma1 T C 7: 113,873,602 (GRCm39) probably null Het
Rbp3 G A 14: 33,678,991 (GRCm39) A980T probably damaging Het
Robo1 T C 16: 72,767,190 (GRCm39) V454A probably benign Het
Sacs A G 14: 61,446,273 (GRCm39) D2773G possibly damaging Het
Sirpb1b A T 3: 15,568,243 (GRCm39) V366E possibly damaging Het
Slc5a7 T C 17: 54,594,389 (GRCm39) I197M probably benign Het
Spata31f1a T A 4: 42,850,393 (GRCm39) I588F probably damaging Het
Spmap2 T C 10: 79,422,789 (GRCm39) S38G probably benign Het
Srgap2 T C 1: 131,283,280 (GRCm39) Y267C probably damaging Het
Ssc4d T C 5: 135,994,950 (GRCm39) T189A probably benign Het
Tas2r106 A G 6: 131,654,925 (GRCm39) *309Q probably null Het
Vmn2r44 T C 7: 8,373,657 (GRCm39) M511V probably benign Het
Wdfy4 G T 14: 32,823,006 (GRCm39) Y1364* probably null Het
Zbtb8a T C 4: 129,248,092 (GRCm39) H393R probably benign Het
Other mutations in Ripply2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Ripply2 APN 9 86,898,009 (GRCm39) splice site probably benign
R0369:Ripply2 UTSW 9 86,898,372 (GRCm39) missense probably damaging 1.00
R1438:Ripply2 UTSW 9 86,901,713 (GRCm39) missense probably damaging 1.00
R4785:Ripply2 UTSW 9 86,901,849 (GRCm39) missense probably damaging 1.00
R4980:Ripply2 UTSW 9 86,901,747 (GRCm39) missense probably damaging 1.00
R5330:Ripply2 UTSW 9 86,897,691 (GRCm39) splice site probably benign
R5331:Ripply2 UTSW 9 86,897,691 (GRCm39) splice site probably benign
R5345:Ripply2 UTSW 9 86,901,779 (GRCm39) splice site probably null
R5482:Ripply2 UTSW 9 86,897,620 (GRCm39) missense possibly damaging 0.72
R5834:Ripply2 UTSW 9 86,897,943 (GRCm39) missense probably damaging 1.00
R7427:Ripply2 UTSW 9 86,901,809 (GRCm39) missense possibly damaging 0.47
R9433:Ripply2 UTSW 9 86,901,715 (GRCm39) missense probably damaging 1.00
Z1177:Ripply2 UTSW 9 86,901,717 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGACATCCATTGCAGTGATG -3'
(R):5'- ACAGTTCTTTTATGGGATGAGTCC -3'

Sequencing Primer
(F):5'- GACATCCATTGCAGTGATGCAGTC -3'
(R):5'- CCCAATTTTGTGAGTAAGAGAATCC -3'
Posted On 2018-04-27