Incidental Mutation 'IGL00569:Clps'
ID 29222
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 # IGL00569
Quality Score
Status
Chromosome 17
Chromosomal Location 28777184-28779740 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) T to A at 28779636 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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T G 11: 110,077,875 (GRCm39) N1311H possibly damaging Het
Adrm1b T C 3: 92,335,707 (GRCm39) T332A probably benign Het
Apol8 C T 15: 77,634,255 (GRCm39) R107H probably benign Het
Cacna1a T A 8: 85,189,343 (GRCm39) I98N probably damaging Het
Dcc T A 18: 71,517,296 (GRCm39) probably null Het
Dock10 A G 1: 80,562,729 (GRCm39) F544L probably damaging Het
Eif2ak2 A T 17: 79,176,912 (GRCm39) S218T probably benign Het
Faf1 T C 4: 109,819,077 (GRCm39) *650Q probably null Het
Fxn A T 19: 24,244,714 (GRCm39) I142N probably damaging Het
Gm10610 A T 7: 83,198,778 (GRCm39) noncoding transcript Het
Hspa1l C T 17: 35,196,441 (GRCm39) T160I probably damaging Het
Kcng4 A G 8: 120,353,070 (GRCm39) V280A probably benign Het
Khsrp T C 17: 57,330,092 (GRCm39) T646A possibly damaging Het
Lilra6 A G 7: 3,917,588 (GRCm39) S136P probably damaging Het
Lmo7 T G 14: 102,124,487 (GRCm39) N315K probably damaging Het
Map3k5 A G 10: 19,810,790 (GRCm39) T147A possibly damaging Het
Mical3 T C 6: 120,938,585 (GRCm39) E1134G possibly damaging Het
Nek3 A G 8: 22,648,722 (GRCm39) L103P probably damaging Het
Nudt17 G T 3: 96,614,343 (GRCm39) P222Q probably damaging Het
Pla2r1 G T 2: 60,250,769 (GRCm39) T1386K probably benign Het
Ptpn13 A G 5: 103,738,872 (GRCm39) probably benign Het
Rgl1 A C 1: 152,447,368 (GRCm39) S134A probably benign Het
Rnls T A 19: 33,145,888 (GRCm39) E195V probably benign Het
Sall4 T C 2: 168,597,232 (GRCm39) N536S probably benign Het
Serinc3 G T 2: 163,469,921 (GRCm39) P309Q probably damaging Het
Smc5 G A 19: 23,213,329 (GRCm39) R528C probably damaging Het
Stxbp3-ps A T 19: 9,535,186 (GRCm39) noncoding transcript Het
Tmem67 T A 4: 12,061,826 (GRCm39) I549L probably damaging Het
Trank1 C A 9: 111,174,579 (GRCm39) H269N possibly damaging Het
Wdr87-ps A T 7: 29,233,565 (GRCm39) noncoding transcript Het
Other mutations in Clps
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03257:Clps APN 17 28,779,634 (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 2013-04-17