Incidental Mutation 'R0826:Ctnnbl1'
ID 78212
Institutional Source Beutler Lab
Gene Symbol Ctnnbl1
Ensembl Gene ENSMUSG00000027649
Gene Name catenin, beta like 1
Synonyms NYD-SP19, 5730471K09Rik, P14L, FLJ21108
MMRRC Submission 039006-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R0826 (G1)
Quality Score 182
Status Validated
Chromosome 2
Chromosomal Location 157579321-157733534 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 157641337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably benign
Transcript: ENSMUST00000029178
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649

DUF1716 52 162 3.97e-61 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155479
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156300
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.6%
  • 10x: 95.7%
  • 20x: 86.3%
Validation Efficiency 100% (69/69)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,642,480 (GRCm39) T141S probably benign Het
4931406C07Rik T C 9: 15,203,292 (GRCm39) probably null Het
Adamts16 T A 13: 70,916,811 (GRCm39) D727V possibly damaging Het
Anxa10 A C 8: 62,529,318 (GRCm39) L133* probably null Het
Arfgef3 G A 10: 18,465,414 (GRCm39) T2143I probably damaging Het
Arhgef17 T C 7: 100,579,950 (GRCm39) T333A probably benign Het
Arhgef40 A G 14: 52,238,450 (GRCm39) T1310A probably benign Het
Atg10 C T 13: 91,084,705 (GRCm39) probably null Het
Atp1a1 A G 3: 101,492,169 (GRCm39) F569S probably damaging Het
Baiap3 A G 17: 25,464,203 (GRCm39) W849R possibly damaging Het
Baz1a A T 12: 54,977,097 (GRCm39) Y9* probably null Het
Catsperg2 C T 7: 29,405,049 (GRCm39) D702N possibly damaging Het
Clasrp G T 7: 19,318,226 (GRCm39) probably benign Het
Col11a1 G A 3: 113,932,414 (GRCm39) R113H unknown Het
Col19a1 T C 1: 24,565,467 (GRCm39) K288R unknown Het
Cttnbp2 A G 6: 18,405,177 (GRCm39) probably benign Het
Dnah1 T A 14: 31,025,864 (GRCm39) I828F probably benign Het
Dpf2 G T 19: 5,957,155 (GRCm39) Q23K probably damaging Het
Dsc3 T A 18: 20,114,229 (GRCm39) I342F probably damaging Het
Enpp3 A G 10: 24,671,614 (GRCm39) L460P probably damaging Het
Epb41l2 A G 10: 25,380,090 (GRCm39) E871G probably damaging Het
Exoc2 T C 13: 31,040,780 (GRCm39) probably null Het
Fam243 G A 16: 92,118,075 (GRCm39) S71L probably benign Het
Fpr-rs7 A T 17: 20,333,888 (GRCm39) S201T probably benign Het
Gtf2ird2 T C 5: 134,245,797 (GRCm39) F685S probably damaging Het
Helz2 C T 2: 180,882,646 (GRCm39) R49H possibly damaging Het
Ica1 A G 6: 8,667,375 (GRCm39) probably benign Het
Ift56 A G 6: 38,402,049 (GRCm39) probably null Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Kif21a A G 15: 90,881,744 (GRCm39) probably null Het
Lamb3 T A 1: 193,013,216 (GRCm39) C480* probably null Het
Lamc2 A G 1: 153,027,828 (GRCm39) S199P probably damaging Het
Lrfn3 T C 7: 30,059,676 (GRCm39) N183S probably benign Het
Lsm14a C A 7: 34,070,470 (GRCm39) probably benign Het
Mest C A 6: 30,742,813 (GRCm39) H146Q probably damaging Het
Mmp27 T C 9: 7,579,010 (GRCm39) V339A probably damaging Het
Myo16 T C 8: 10,426,285 (GRCm39) probably benign Het
Myoz1 C T 14: 20,703,679 (GRCm39) probably benign Het
Nlrp5 A G 7: 23,117,133 (GRCm39) M286V probably benign Het
Optc T C 1: 133,832,893 (GRCm39) K69R probably benign Het
Or13c3 C T 4: 52,855,566 (GRCm39) V316I probably benign Het
Or2y1c A T 11: 49,361,158 (GRCm39) Y60F probably damaging Het
Or4a77 A C 2: 89,487,181 (GRCm39) N201K possibly damaging Het
Or8g18 C T 9: 39,149,725 (GRCm39) M1I probably null Het
Osbpl3 A T 6: 50,323,357 (GRCm39) M242K probably damaging Het
Pdzd9 T A 7: 120,267,624 (GRCm39) S64C probably damaging Het
Pik3cg A G 12: 32,245,672 (GRCm39) S859P possibly damaging Het
Ppp1r12a G T 10: 108,066,414 (GRCm39) A202S possibly damaging Het
Rab32 A T 10: 10,426,611 (GRCm39) F112I possibly damaging Het
Ror2 T C 13: 53,267,253 (GRCm39) Y394C probably damaging Het
Rtn3 A G 19: 7,445,245 (GRCm39) probably benign Het
Sbk1 C T 7: 125,891,007 (GRCm39) P147L probably damaging Het
Shpk T A 11: 73,094,857 (GRCm39) M91K probably damaging Het
Slco6c1 C T 1: 97,055,826 (GRCm39) S25N probably benign Het
Snx2 A T 18: 53,327,594 (GRCm39) T107S probably benign Het
Tle2 G A 10: 81,422,148 (GRCm39) V397I possibly damaging Het
Tmem131l T C 3: 83,805,724 (GRCm39) D1573G probably damaging Het
Tnfrsf8 A G 4: 145,011,708 (GRCm39) probably benign Het
Tpmt T C 13: 47,194,965 (GRCm39) E36G probably benign Het
Trim30c T A 7: 104,032,688 (GRCm39) T257S probably benign Het
Tsc2 A G 17: 24,815,932 (GRCm39) L150P probably benign Het
Upf3a G C 8: 13,848,338 (GRCm39) G378A possibly damaging Het
Yeats2 A T 16: 20,011,966 (GRCm39) K514* probably null Het
Zfp11 A G 5: 129,734,589 (GRCm39) Y291H probably benign Het
Zfp457 T C 13: 67,441,378 (GRCm39) D399G possibly damaging Het
Other mutations in Ctnnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ctnnbl1 APN 2 157,661,461 (GRCm39) missense possibly damaging 0.80
IGL01374:Ctnnbl1 APN 2 157,678,613 (GRCm39) critical splice donor site probably null
IGL01504:Ctnnbl1 APN 2 157,660,036 (GRCm39) splice site probably benign
IGL01622:Ctnnbl1 APN 2 157,661,468 (GRCm39) missense probably damaging 1.00
IGL01623:Ctnnbl1 APN 2 157,661,468 (GRCm39) missense probably damaging 1.00
IGL02146:Ctnnbl1 APN 2 157,661,414 (GRCm39) missense probably damaging 1.00
IGL02550:Ctnnbl1 APN 2 157,726,055 (GRCm39) missense probably benign 0.00
IGL03104:Ctnnbl1 APN 2 157,732,885 (GRCm39) missense probably damaging 0.99
IGL03164:Ctnnbl1 APN 2 157,659,681 (GRCm39) missense probably benign
R0482:Ctnnbl1 UTSW 2 157,713,110 (GRCm39) critical splice donor site probably null
R0827:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0862:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0863:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R0864:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R1466:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
R1533:Ctnnbl1 UTSW 2 157,678,563 (GRCm39) missense probably benign
R2971:Ctnnbl1 UTSW 2 157,713,106 (GRCm39) missense probably benign 0.06
R3522:Ctnnbl1 UTSW 2 157,713,113 (GRCm39) splice site probably null
R4296:Ctnnbl1 UTSW 2 157,661,490 (GRCm39) splice site probably null
R4982:Ctnnbl1 UTSW 2 157,678,473 (GRCm39) missense probably benign 0.01
R5396:Ctnnbl1 UTSW 2 157,659,752 (GRCm39) splice site probably null
R5857:Ctnnbl1 UTSW 2 157,631,018 (GRCm39) missense probably damaging 1.00
R7710:Ctnnbl1 UTSW 2 157,616,491 (GRCm39) missense probably benign 0.00
R7769:Ctnnbl1 UTSW 2 157,579,390 (GRCm39) start gained probably benign
R8134:Ctnnbl1 UTSW 2 157,651,391 (GRCm39) missense probably benign 0.19
R8324:Ctnnbl1 UTSW 2 157,621,735 (GRCm39) missense probably damaging 0.97
R8384:Ctnnbl1 UTSW 2 157,659,980 (GRCm39) missense probably benign 0.01
R8430:Ctnnbl1 UTSW 2 157,678,603 (GRCm39) missense probably damaging 0.99
R9116:Ctnnbl1 UTSW 2 157,648,623 (GRCm39) missense probably damaging 1.00
R9244:Ctnnbl1 UTSW 2 157,678,583 (GRCm39) missense possibly damaging 0.63
R9350:Ctnnbl1 UTSW 2 157,651,445 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-10-16