Incidental Mutation 'IGL03257:Clps'
ID 414714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Clps
Ensembl Gene ENSMUSG00000024225
Gene Name colipase, pancreatic
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL03257
Quality Score
Status
Chromosome 17
Chromosomal Location 28777184-28779740 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to C at 28779634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110433 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025062] [ENSMUST00000114785]
AlphaFold Q9CQC2
Predicted Effect probably benign
Transcript: ENSMUST00000025062
SMART Domains Protein: ENSMUSP00000025062
Gene: ENSMUSG00000024225

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
COLIPASE 19 113 1.56e-62 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114785
SMART Domains Protein: ENSMUSP00000110433
Gene: ENSMUSG00000024225

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Colipase_C 22 66 6.2e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183777
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the colipase family of coenzymes that is required for the optimal activity of pancreatic lipase. The encoded protein undergoes proteolytic processing to generate a mature polypeptide that binds to the lipase and prevents inhibition by bile acids. Over half of the mice lacking the encoded protein die within two weeks of birth while the remaining ones exhibit fat malabsorption and altered body weight regulation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in increased mortality before weaning. Surviving mutants are growth retarded and remain smaller than wild-type into adulthood with decreased body fat, impaired fat absorption, elevated cholesterol, and reduced triglycerides. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 C A 14: 118,852,623 (GRCm39) V489L probably benign Het
Alpk2 C A 18: 65,482,945 (GRCm39) E354D probably damaging Het
Ank1 A T 8: 23,612,914 (GRCm39) K1060M probably damaging Het
Cand2 A G 6: 115,776,944 (GRCm39) N1111D possibly damaging Het
Ccny A T 18: 9,386,747 (GRCm39) S73T possibly damaging Het
Cnga1 C A 5: 72,768,205 (GRCm39) W160C probably damaging Het
Col6a5 T C 9: 105,759,072 (GRCm39) S2045G possibly damaging Het
Dennd4a T G 9: 64,779,156 (GRCm39) N546K possibly damaging Het
Efcab5 A T 11: 77,079,596 (GRCm39) M50K probably damaging Het
Fntb A G 12: 76,934,805 (GRCm39) H228R probably damaging Het
Gm4787 C T 12: 81,424,826 (GRCm39) C444Y probably damaging Het
Gpm6a A G 8: 55,490,507 (GRCm39) Y61C probably damaging Het
Grm5 T A 7: 87,252,106 (GRCm39) S119T possibly damaging Het
Igf1r T A 7: 67,864,688 (GRCm39) I1162N probably damaging Het
Irx5 A G 8: 93,087,258 (GRCm39) T397A probably benign Het
Kdm1b C T 13: 47,202,742 (GRCm39) T59M probably damaging Het
Lrrc9 T A 12: 72,496,542 (GRCm39) S57T probably benign Het
Nup210l A T 3: 90,087,455 (GRCm39) probably null Het
Or5p52 T C 7: 107,501,963 (GRCm39) I13T probably benign Het
Or8k27 A T 2: 86,276,234 (GRCm39) F31I probably damaging Het
Prl8a1 A G 13: 27,759,656 (GRCm39) I127T probably damaging Het
Psme1 T C 14: 55,818,086 (GRCm39) I142T probably damaging Het
Ptbp3 A T 4: 59,493,370 (GRCm39) probably benign Het
Rnf20 T A 4: 49,645,687 (GRCm39) N321K probably benign Het
Ttc23 T C 7: 67,361,126 (GRCm39) S340P probably damaging Het
Txnrd1 A T 10: 82,721,105 (GRCm39) K393I probably benign Het
Zfp365 A T 10: 67,724,868 (GRCm39) F340Y possibly damaging Het
Zfp451 C A 1: 33,816,129 (GRCm39) R607L possibly damaging Het
Zfp618 A G 4: 63,050,908 (GRCm39) Y563C probably damaging Het
Other mutations in Clps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00569:Clps APN 17 28,779,636 (GRCm39) utr 5 prime probably benign
R8964:Clps UTSW 17 28,777,730 (GRCm39) intron probably benign
X0018:Clps UTSW 17 28,779,631 (GRCm39) start codon destroyed probably null 0.01
Posted On 2016-08-02