Incidental Mutation 'IGL01284:Cck'
ID 72648
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cck
Ensembl Gene ENSMUSG00000032532
Gene Name cholecystokinin
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL01284
Quality Score
Status
Chromosome 9
Chromosomal Location 121318890-121324728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121319236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 82 (N82K)
Ref Sequence ENSEMBL: ENSMUSP00000149410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035120] [ENSMUST00000213106] [ENSMUST00000215228] [ENSMUST00000216138]
AlphaFold P09240
Predicted Effect probably benign
Transcript: ENSMUST00000035120
AA Change: N82K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035120
Gene: ENSMUSG00000032532
AA Change: N82K

DomainStartEndE-ValueType
low complexity region 4 26 N/A INTRINSIC
GASTRIN 99 112 4.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213106
AA Change: N82K

PolyPhen 2 Score 0.400 (Sensitivity: 0.89; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000215228
AA Change: N82K

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000216138
Predicted Effect probably benign
Transcript: ENSMUST00000216176
Predicted Effect probably benign
Transcript: ENSMUST00000217581
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Homozygous knockout mice for this gene exhibit impaired insulin secretion, enhanced insulin sensitivity, and resistance to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mice for one allele exhibit a significant decrease in prepulse inhibition while mice for another mutation appear normal but have increased enzyme levels of pancreatic amylase. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A T 6: 86,827,035 (GRCm39) M1L possibly damaging Het
Agr2 A G 12: 36,045,580 (GRCm39) D22G possibly damaging Het
C9orf72 A T 4: 35,218,808 (GRCm39) I17N probably damaging Het
Cdh23 A T 10: 60,301,876 (GRCm39) I402N possibly damaging Het
Cfap157 T C 2: 32,671,491 (GRCm39) D105G possibly damaging Het
Dhx9 C A 1: 153,340,644 (GRCm39) L665F probably damaging Het
Dlg5 T C 14: 24,196,265 (GRCm39) E1621G probably damaging Het
Dst A G 1: 34,203,009 (GRCm39) Y713C probably damaging Het
Fbp2 T C 13: 62,988,099 (GRCm39) S271G probably benign Het
Gp5 G T 16: 30,128,028 (GRCm39) S215R probably benign Het
Kpnb1 A G 11: 97,056,928 (GRCm39) M647T probably damaging Het
Masp2 A G 4: 148,698,464 (GRCm39) E515G probably damaging Het
Mfge8 A G 7: 78,786,530 (GRCm39) S290P probably damaging Het
Negr1 C T 3: 156,851,854 (GRCm39) P219S probably damaging Het
Nkx2-6 T C 14: 69,409,326 (GRCm39) S26P probably benign Het
Or10a49 C T 7: 108,467,482 (GRCm39) R293K possibly damaging Het
Pdzd9 A C 7: 120,259,494 (GRCm39) Y165D possibly damaging Het
Pik3ca C T 3: 32,516,733 (GRCm39) A987V probably damaging Het
Pomp T A 5: 147,797,491 (GRCm39) probably benign Het
Rbm33 A G 5: 28,615,707 (GRCm39) T17A probably damaging Het
Skic2 T C 17: 35,058,664 (GRCm39) probably benign Het
Slc4a4 G A 5: 89,277,532 (GRCm39) A334T probably benign Het
Tecta A G 9: 42,256,916 (GRCm39) F1587L probably damaging Het
Tex29 C A 8: 11,894,231 (GRCm39) Y46* probably null Het
Tgm5 A G 2: 120,883,028 (GRCm39) S410P possibly damaging Het
Tmtc2 A G 10: 105,107,372 (GRCm39) Y714H possibly damaging Het
Tubgcp6 C T 15: 88,994,258 (GRCm39) R468Q probably damaging Het
Other mutations in Cck
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7533:Cck UTSW 9 121,319,201 (GRCm39) missense probably damaging 1.00
R7857:Cck UTSW 9 121,322,514 (GRCm39) missense probably damaging 0.97
Posted On 2013-10-07