Incidental Mutation 'IGL02550:Ctnnbl1'
ID 298020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctnnbl1
Ensembl Gene ENSMUSG00000027649
Gene Name catenin, beta like 1
Synonyms NYD-SP19, 5730471K09Rik, P14L, FLJ21108
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # IGL02550
Quality Score
Chromosome 2
Chromosomal Location 157579321-157733534 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 157726055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 465 (D465E)
Ref Sequence ENSEMBL: ENSMUSP00000029178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029178]
AlphaFold Q9CWL8
Predicted Effect probably benign
Transcript: ENSMUST00000029178
AA Change: D465E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029178
Gene: ENSMUSG00000027649
AA Change: D465E

DUF1716 52 162 3.97e-61 SMART
Coding Region Coverage
Validation Efficiency
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
Acadl A G 1: 66,884,325 (GRCm39) probably null Het
Acer3 G A 7: 97,873,185 (GRCm39) T171I probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Anxa2 A G 9: 69,374,588 (GRCm39) S22G probably benign Het
Arrb2 T C 11: 70,327,696 (GRCm39) I120T probably damaging Het
Atp11a G T 8: 12,866,997 (GRCm39) K141N possibly damaging Het
Casd1 T C 6: 4,642,009 (GRCm39) V762A probably benign Het
Ccdc61 A T 7: 18,627,227 (GRCm39) S48T probably benign Het
Cntn2 T C 1: 132,456,801 (GRCm39) M82V probably null Het
Cobll1 A G 2: 64,938,207 (GRCm39) S359P probably damaging Het
Def6 A T 17: 28,447,235 (GRCm39) E622V probably benign Het
Dmgdh T C 13: 93,854,083 (GRCm39) Y678H probably damaging Het
Dock9 A T 14: 121,935,724 (GRCm39) M1K probably null Het
Esyt1 T C 10: 128,357,962 (GRCm39) K216E probably damaging Het
Fhod3 A G 18: 25,156,017 (GRCm39) D545G probably benign Het
Galnt12 A T 4: 47,104,126 (GRCm39) D128V possibly damaging Het
Gm1110 C T 9: 26,793,130 (GRCm39) V549I probably benign Het
Gm7361 A G 5: 26,466,120 (GRCm39) I161V possibly damaging Het
Gsn T C 2: 35,172,619 (GRCm39) probably benign Het
Gvin3 A T 7: 106,200,846 (GRCm39) noncoding transcript Het
Il16 T A 7: 83,323,704 (GRCm39) Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 (GRCm38) D67G probably benign Het
Insrr T C 3: 87,711,805 (GRCm39) L515P probably damaging Het
Jhy A G 9: 40,828,466 (GRCm39) F480S probably benign Het
Klc4 C A 17: 46,947,836 (GRCm39) probably null Het
Klhl12 G T 1: 134,395,443 (GRCm39) C135F possibly damaging Het
Ly6m T G 15: 74,752,604 (GRCm39) H24P probably damaging Het
Mboat7 G T 7: 3,686,905 (GRCm39) probably null Het
Myo1f G A 17: 33,807,116 (GRCm39) D522N probably damaging Het
Myo1f A G 17: 33,799,124 (GRCm39) probably benign Het
Nbea C A 3: 55,926,835 (GRCm39) M789I probably damaging Het
Ncapd2 T C 6: 125,154,410 (GRCm39) D602G probably benign Het
Ncaph2 A T 15: 89,254,064 (GRCm39) K344* probably null Het
Nek2 A G 1: 191,554,371 (GRCm39) Y70C probably damaging Het
Or2t1 T C 14: 14,328,423 (GRCm38) L104P possibly damaging Het
Or4k35 T A 2: 111,100,349 (GRCm39) D121V probably damaging Het
Or4k37 T C 2: 111,158,845 (GRCm39) L27P probably damaging Het
Or5ak22 G A 2: 85,230,166 (GRCm39) A237V probably damaging Het
Or7e166 C A 9: 19,624,343 (GRCm39) F73L possibly damaging Het
Or8g35 T A 9: 39,381,842 (GRCm39) Y60F probably benign Het
Plcb3 T A 19: 6,937,544 (GRCm39) K625* probably null Het
Plrg1 T C 3: 82,968,430 (GRCm39) probably null Het
Ptpn12 A G 5: 21,203,137 (GRCm39) V547A probably benign Het
Ralgapb A G 2: 158,290,331 (GRCm39) D748G probably damaging Het
Rcbtb2 A G 14: 73,399,459 (GRCm39) E41G probably damaging Het
Rela G T 19: 5,691,534 (GRCm39) R236L possibly damaging Het
Rps6kc1 A G 1: 190,604,059 (GRCm39) S188P probably damaging Het
Sipa1l1 A T 12: 82,487,723 (GRCm39) K1666* probably null Het
Slco1a1 C T 6: 141,889,191 (GRCm39) M40I probably benign Het
Smarca4 C A 9: 21,597,418 (GRCm39) P1391Q probably benign Het
Stra6 A G 9: 58,057,366 (GRCm39) N392S possibly damaging Het
Syt4 A G 18: 31,577,246 (GRCm39) I36T probably damaging Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmem87a T A 2: 120,204,966 (GRCm39) probably null Het
Tmf1 T C 6: 97,135,522 (GRCm39) D918G probably benign Het
Tnfaip2 A G 12: 111,412,535 (GRCm39) Y312C probably damaging Het
Usp47 C T 7: 111,703,561 (GRCm39) R1178C probably damaging Het
Vmn2r95 T A 17: 18,671,994 (GRCm39) I577N probably damaging Het
Vps13b T C 15: 35,572,242 (GRCm39) V953A probably benign Het
Wasl A G 6: 24,633,883 (GRCm39) F127S probably damaging Het
Wdr1 C T 5: 38,698,206 (GRCm39) V192I probably damaging Het
Wnt9a C T 11: 59,221,744 (GRCm39) T214I probably damaging Het
Xpo5 A G 17: 46,540,255 (GRCm39) D693G probably benign Het
Zan A G 5: 137,385,301 (GRCm39) L5044P unknown Het
Zhx3 T C 2: 160,623,216 (GRCm39) N317S probably 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
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
R0826:Ctnnbl1 UTSW 2 157,641,337 (GRCm39) splice site probably benign
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
Posted On 2015-04-16