Incidental Mutation 'R3522:Ctnnbl1'
ID 267515
Institutional Source Beutler Lab
Gene Symbol Ctnnbl1
Ensembl Gene ENSMUSG00000027649
Gene Name catenin, beta like 1
Synonyms P14L, FLJ21108, NYD-SP19, 5730471K09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.964) question?
Stock # R3522 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 157737401-157891614 bp(+) (GRCm38)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 157871193 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178] [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably null
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DUF1716 52 162 3.97e-61 SMART
Predicted Effect probably null
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DUF1716 52 162 3.97e-61 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd35 A G 3: 96,685,062 (GRCm38) E888G probably damaging Het
Arhgef10 T C 8: 14,954,918 (GRCm38) F150S probably damaging Het
Atp10d G T 5: 72,239,157 (GRCm38) R235L probably benign Het
Cacna1b A G 2: 24,763,043 (GRCm38) V2A possibly damaging Het
Cand1 A T 10: 119,239,197 (GRCm38) L15Q probably benign Het
Cavin3 C A 7: 105,481,143 (GRCm38) G154V probably benign Het
Ccdc73 A T 2: 104,991,485 (GRCm38) D593V probably damaging Het
Cdk5rap2 T C 4: 70,250,410 (GRCm38) K161E probably damaging Het
Chil4 A T 3: 106,203,740 (GRCm38) N279K probably benign Het
Chst13 T G 6: 90,318,263 (GRCm38) D56A probably damaging Het
Cnn1 C A 9: 22,099,368 (GRCm38) H5N probably benign Het
Cpsf4l T A 11: 113,702,493 (GRCm38) K88N probably damaging Het
Dnah7a A C 1: 53,618,116 (GRCm38) F834V probably damaging Het
Fbxo41 A G 6: 85,484,181 (GRCm38) S182P probably benign Het
Fkbp5 T C 17: 28,415,996 (GRCm38) T180A probably benign Het
Flg2 T A 3: 93,220,027 (GRCm38) I2082N unknown Het
Gm4968 A G 6: 127,233,762 (GRCm38) noncoding transcript Het
Gpc5 T A 14: 116,524,335 (GRCm38) H612Q probably benign Het
Gsg1 A T 6: 135,241,253 (GRCm38) V212D probably damaging Het
Hipk1 A G 3: 103,744,114 (GRCm38) V1111A probably damaging Het
Hormad1 A T 3: 95,576,285 (GRCm38) Q136L probably benign Het
Ifi35 T A 11: 101,457,685 (GRCm38) S147R probably benign Het
Iqca1l A G 5: 24,549,626 (GRCm38) probably null Het
Iqgap3 C T 3: 88,090,782 (GRCm38) A282V probably null Het
Jmy T C 13: 93,454,050 (GRCm38) D515G probably damaging Het
Kctd10 G A 5: 114,374,923 (GRCm38) R64C probably damaging Het
Kidins220 T C 12: 24,990,758 (GRCm38) V121A probably damaging Het
Lcn3 G A 2: 25,766,121 (GRCm38) V63M possibly damaging Het
Lmx1b T A 2: 33,639,531 (GRCm38) Y72F probably benign Het
Lrp1 T C 10: 127,553,555 (GRCm38) D3164G probably damaging Het
Mdh1b C T 1: 63,719,768 (GRCm38) V222M probably damaging Het
Mst1 T C 9: 108,081,503 (GRCm38) probably benign Het
Myo7b C A 18: 32,010,079 (GRCm38) V189F probably damaging Het
Ndc1 T C 4: 107,393,158 (GRCm38) S533P probably damaging Het
Ndrg3 T C 2: 156,944,027 (GRCm38) D164G probably damaging Het
Nol11 C T 11: 107,173,628 (GRCm38) C500Y possibly damaging Het
Nsd3 A G 8: 25,706,614 (GRCm38) N1208D probably benign Het
Nup155 C T 15: 8,156,678 (GRCm38) probably benign Het
Olfr911-ps1 A G 9: 38,523,785 (GRCm38) T18A probably damaging Het
Or5ak20 A T 2: 85,353,003 (GRCm38) C308S probably benign Het
Or6c38 A G 10: 129,093,842 (GRCm38) I44T possibly damaging Het
Or8b54 A T 9: 38,775,720 (GRCm38) D155V possibly damaging Het
Phf3 A G 1: 30,805,603 (GRCm38) L1425P probably damaging Het
Pla2r1 A G 2: 60,448,906 (GRCm38) Y777H probably damaging Het
Pld1 A G 3: 28,031,247 (GRCm38) E184G probably damaging Het
Plxna1 T C 6: 89,337,353 (GRCm38) probably null Het
Ptgfrn T C 3: 101,043,402 (GRCm38) E865G probably damaging Het
Ptpn13 G T 5: 103,589,854 (GRCm38) probably benign Het
Pygb G T 2: 150,828,553 (GRCm38) V763F probably benign Het
Ros1 A C 10: 52,090,995 (GRCm38) Y1705* probably null Het
Sec61a2 A G 2: 5,893,216 (GRCm38) F5L probably benign Het
Skint5 A G 4: 113,756,905 (GRCm38) probably null Het
Sntg2 A G 12: 30,312,567 (GRCm38) V60A probably damaging Het
Sppl2a A G 2: 126,920,322 (GRCm38) C280R possibly damaging Het
Srrm4 A C 5: 116,446,544 (GRCm38) M1R probably null Het
Sult1c1 T C 17: 53,972,015 (GRCm38) E91G probably damaging Het
Themis2 C G 4: 132,785,595 (GRCm38) R440P probably damaging Het
Tmem229a A G 6: 24,955,059 (GRCm38) L232P probably benign Het
Trappc1 T C 11: 69,324,422 (GRCm38) F43L probably damaging Het
Trappc11 A T 8: 47,498,673 (GRCm38) Y982N possibly damaging Het
Trpv6 A T 6: 41,627,405 (GRCm38) M139K probably damaging Het
Txnrd3 A G 6: 89,663,075 (GRCm38) probably null Het
Vmn1r184 T A 7: 26,267,583 (GRCm38) Y251* probably null Het
Vmn1r216 A G 13: 23,099,374 (GRCm38) N76D possibly damaging Het
Vmn1r71 C A 7: 10,747,865 (GRCm38) V233F probably benign Het
Vps13a A C 19: 16,766,493 (GRCm38) probably benign Het
Vwa5b2 A G 16: 20,601,608 (GRCm38) S756G probably damaging Het
Wdr36 T A 18: 32,861,485 (GRCm38) probably null Het
Wdr86 A G 5: 24,718,307 (GRCm38) V129A probably benign Het
Zfyve9 A G 4: 108,719,743 (GRCm38) L47S probably benign Het
Other mutations in Ctnnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ctnnbl1 APN 2 157,819,541 (GRCm38) missense possibly damaging 0.80
IGL01374:Ctnnbl1 APN 2 157,836,693 (GRCm38) critical splice donor site probably null
IGL01504:Ctnnbl1 APN 2 157,818,116 (GRCm38) splice site probably benign
IGL01622:Ctnnbl1 APN 2 157,819,548 (GRCm38) missense probably damaging 1.00
IGL01623:Ctnnbl1 APN 2 157,819,548 (GRCm38) missense probably damaging 1.00
IGL02146:Ctnnbl1 APN 2 157,819,494 (GRCm38) missense probably damaging 1.00
IGL02550:Ctnnbl1 APN 2 157,884,135 (GRCm38) missense probably benign 0.00
IGL03104:Ctnnbl1 APN 2 157,890,965 (GRCm38) missense probably damaging 0.99
IGL03164:Ctnnbl1 APN 2 157,817,761 (GRCm38) missense probably benign
R0482:Ctnnbl1 UTSW 2 157,871,190 (GRCm38) critical splice donor site probably null
R0826:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R0827:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R0862:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R0863:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R0864:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R1466:Ctnnbl1 UTSW 2 157,799,417 (GRCm38) splice site probably benign
R1533:Ctnnbl1 UTSW 2 157,836,643 (GRCm38) missense probably benign
R2971:Ctnnbl1 UTSW 2 157,871,186 (GRCm38) missense probably benign 0.06
R4296:Ctnnbl1 UTSW 2 157,819,570 (GRCm38) splice site probably null
R4982:Ctnnbl1 UTSW 2 157,836,553 (GRCm38) missense probably benign 0.01
R5396:Ctnnbl1 UTSW 2 157,817,832 (GRCm38) splice site probably null
R5857:Ctnnbl1 UTSW 2 157,789,098 (GRCm38) missense probably damaging 1.00
R7710:Ctnnbl1 UTSW 2 157,774,571 (GRCm38) missense probably benign 0.00
R7769:Ctnnbl1 UTSW 2 157,737,470 (GRCm38) start gained probably benign
R8134:Ctnnbl1 UTSW 2 157,809,471 (GRCm38) missense probably benign 0.19
R8324:Ctnnbl1 UTSW 2 157,779,815 (GRCm38) missense probably damaging 0.97
R8384:Ctnnbl1 UTSW 2 157,818,060 (GRCm38) missense probably benign 0.01
R8430:Ctnnbl1 UTSW 2 157,836,683 (GRCm38) missense probably damaging 0.99
R9116:Ctnnbl1 UTSW 2 157,806,703 (GRCm38) missense probably damaging 1.00
R9244:Ctnnbl1 UTSW 2 157,836,663 (GRCm38) missense possibly damaging 0.63
R9350:Ctnnbl1 UTSW 2 157,809,525 (GRCm38) missense possibly damaging 0.91
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-02-18