Incidental Mutation 'R0369:Ripply2'
ID 30380
Institutional Source Beutler Lab
Gene Symbol Ripply2
Ensembl Gene ENSMUSG00000047897
Gene Name ripply transcriptional repressor 2
Synonyms C030002E08Rik, LOC382089
MMRRC Submission 038575-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0369 (G1)
Quality Score 223
Status Not validated
Chromosome 9
Chromosomal Location 86897590-86901970 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 86898372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 72 (Y72C)
Ref Sequence ENSEMBL: ENSMUSP00000055369 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058846]
AlphaFold Q2WG76
Predicted Effect probably damaging
Transcript: ENSMUST00000058846
AA Change: Y72C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055369
Gene: ENSMUSG00000047897
AA Change: Y72C

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: 99.0%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 87.0%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik G A 9: 114,129,077 (GRCm39) noncoding transcript Het
Aadacl2 T A 3: 59,932,143 (GRCm39) Y219* probably null Het
Adamts13 C A 2: 26,895,198 (GRCm39) D1096E probably benign Het
Adamts16 T G 13: 70,927,671 (GRCm39) K523Q possibly damaging Het
Adcy2 A G 13: 68,820,019 (GRCm39) F740S probably benign Het
Carmil1 T A 13: 24,266,003 (GRCm39) N253I probably damaging Het
Ccdc97 T C 7: 25,413,833 (GRCm39) T283A probably damaging Het
Cmpk2 G T 12: 26,527,150 (GRCm39) E380* probably null Het
Csmd3 A G 15: 47,833,543 (GRCm39) I911T probably damaging Het
Cyp2c39 T C 19: 39,502,079 (GRCm39) L156P probably damaging Het
D7Ertd443e T C 7: 133,899,866 (GRCm39) I499V possibly damaging Het
Dhx58 A C 11: 100,592,374 (GRCm39) probably null Het
Dip2a C T 10: 76,134,621 (GRCm39) G390S probably damaging Het
Dusp10 A G 1: 183,801,253 (GRCm39) D340G probably damaging Het
Epha1 A T 6: 42,342,407 (GRCm39) C314S probably damaging Het
Exph5 A T 9: 53,284,602 (GRCm39) H561L probably benign Het
Fbxw26 A G 9: 109,552,780 (GRCm39) probably null Het
Foxc1 A C 13: 31,991,495 (GRCm39) N102T probably damaging Het
Fsip2 T C 2: 82,814,908 (GRCm39) I3547T probably benign Het
Gm5464 G T 14: 67,106,774 (GRCm39) probably benign Het
Gnptab C T 10: 88,269,456 (GRCm39) R720C possibly damaging Het
Greb1l T C 18: 10,469,375 (GRCm39) V130A possibly damaging Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Hnrnpul2 C A 19: 8,801,777 (GRCm39) D328E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ift172 T C 5: 31,410,985 (GRCm39) Y1691C probably damaging Het
Kremen2 T C 17: 23,961,784 (GRCm39) D241G probably benign Het
Meis2 T C 2: 115,893,897 (GRCm39) D5G possibly damaging Het
Mrps5 G A 2: 127,433,749 (GRCm39) R46K probably benign Het
Myh14 C T 7: 44,310,374 (GRCm39) V170M probably damaging Het
Nexn T C 3: 151,953,894 (GRCm39) N123D probably benign Het
Or11g26 T A 14: 50,753,282 (GRCm39) M207K probably benign Het
Or4d11 A T 19: 12,013,765 (GRCm39) S114T probably benign Het
Or51l14 T A 7: 103,101,423 (GRCm39) I293N probably damaging Het
Pacs1 C T 19: 5,191,726 (GRCm39) V704M probably damaging Het
Papolg A G 11: 23,822,425 (GRCm39) probably null Het
Pdlim3 T C 8: 46,370,543 (GRCm39) V281A probably benign Het
Plpp4 T G 7: 128,925,190 (GRCm39) F142V probably damaging Het
Prb1a G A 6: 132,184,620 (GRCm39) Q338* probably null Het
Psg26 G T 7: 18,216,481 (GRCm39) Y119* probably null Het
Ptger4 A G 15: 5,272,491 (GRCm39) C68R probably benign Het
Ptpre T A 7: 135,272,444 (GRCm39) I399N probably damaging Het
Rp1l1 T A 14: 64,266,837 (GRCm39) S808T possibly damaging Het
Scn5a G A 9: 119,362,838 (GRCm39) T594I probably damaging Het
Sf3b1 T C 1: 55,037,267 (GRCm39) D883G probably benign Het
Skint5 A T 4: 113,369,220 (GRCm39) probably null Het
Terf1 A G 1: 15,889,207 (GRCm39) H212R probably damaging Het
Tmco5 T G 2: 116,711,269 (GRCm39) probably null Het
Tnfaip3 A T 10: 18,882,660 (GRCm39) Y252* probably null Het
Tnrc6a T A 7: 122,770,083 (GRCm39) N624K probably damaging Het
Top3a C A 11: 60,633,615 (GRCm39) R827L probably damaging Het
Unc79 G A 12: 103,055,031 (GRCm39) probably null Het
Usp20 T C 2: 30,901,116 (GRCm39) S422P probably benign Het
Utrn T C 10: 12,509,766 (GRCm39) E2402G probably benign Het
Wdr3 G A 3: 100,063,734 (GRCm39) Q181* probably null Het
Zfp536 T C 7: 37,267,373 (GRCm39) E681G probably damaging Het
Zfp91 C T 19: 12,747,438 (GRCm39) V562I possibly damaging Het
Zfp942 A T 17: 22,148,017 (GRCm39) I204N probably benign Het
Other mutations in Ripply2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02686:Ripply2 APN 9 86,898,009 (GRCm39) splice site probably benign
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
R6357:Ripply2 UTSW 9 86,898,331 (GRCm39) missense possibly damaging 0.49
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'- TGCAGTCACTTGCAGCCAAGAG -3'
(R):5'- TGCAAACCTGCCACTGTCCATC -3'

Sequencing Primer
(F):5'- TTGCAGCCAAGAGCTGGG -3'
(R):5'- AACGGCGCCAGCTATTAA -3'
Posted On 2013-04-24