Incidental Mutation 'IGL01133:Cartpt'
ID 52600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cartpt
Ensembl Gene ENSMUSG00000021647
Gene Name CART prepropeptide
Synonyms Cart
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # IGL01133
Quality Score
Status
Chromosome 13
Chromosomal Location 100034991-100037191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100036548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 67 (I67L)
Ref Sequence ENSEMBL: ENSMUSP00000022150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022150] [ENSMUST00000224142]
AlphaFold P56388
Predicted Effect probably benign
Transcript: ENSMUST00000022150
AA Change: I67L

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000022150
Gene: ENSMUSG00000021647
AA Change: I67L

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:CART 64 129 1.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224142
AA Change: I54L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes preproprotein isoforms that are processed into multiple biologically active peptides. Expression of this gene is regulated by cocaine and other drugs, and is associated with feeding/appetite and stress response. Mice lacking the encoded protein are predisposed to obesity. Deficiency of the encoded protein in mice results in pancreatic islet dysfunction, impaired insulin secretion and glucose intolerance. Alternative splicing results in multiple transcript variants encoding different isoforms, which are subsequently processed into mature peptides. [provided by RefSeq, Jul 2015]
PHENOTYPE: Homozygous null mice exhibit increases in food consumption, body weight, and fat mass when fed a high-fat diet, but not on a regular diet. Mice homozygous for another disruption in this gene have increased body weight at older ages, impaired insulin secretion and glucose intolerance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adam4 T C 12: 81,468,220 (GRCm39) T134A possibly damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ccer1 T C 10: 97,530,401 (GRCm39) F355L probably benign Het
Cert1 A G 13: 96,751,310 (GRCm39) E320G probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cfap299 T C 5: 98,646,240 (GRCm39) probably null Het
Cfap36 A C 11: 29,184,414 (GRCm39) V114G probably damaging Het
Cyp2b9 G A 7: 25,909,660 (GRCm39) G476D probably damaging Het
Eif3l T C 15: 78,961,120 (GRCm39) Y58H possibly damaging Het
Gapvd1 T C 2: 34,615,410 (GRCm39) Y411C probably damaging Het
Gm27029 G T 11: 101,302,786 (GRCm39) F236L possibly damaging Het
Golga1 T C 2: 38,913,484 (GRCm39) T501A probably benign Het
Heg1 C T 16: 33,547,657 (GRCm39) H815Y probably benign Het
Krt1 A T 15: 101,756,628 (GRCm39) D298E probably damaging Het
Mecr T A 4: 131,570,907 (GRCm39) S32T probably benign Het
Med1 A T 11: 98,048,812 (GRCm39) Y661* probably null Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Pla2g12b G T 10: 59,252,239 (GRCm39) A37S probably benign Het
Plekha7 G T 7: 115,744,476 (GRCm39) probably null Het
Ralgapa1 T C 12: 55,689,133 (GRCm39) I1989V probably damaging Het
Ralgapa1 T C 12: 55,689,144 (GRCm39) H1938R probably damaging Het
Sanbr A T 11: 23,545,434 (GRCm39) D486E probably damaging Het
Sec31b A G 19: 44,515,480 (GRCm39) F309S probably damaging Het
Serpina3a T C 12: 104,087,758 (GRCm39) I227T probably benign Het
Slc1a3 A G 15: 8,675,171 (GRCm39) I278T probably damaging Het
Slc1a3 T C 15: 8,680,477 (GRCm39) Y127C probably damaging Het
Spen T C 4: 141,217,212 (GRCm39) K449R unknown Het
Thoc2l A G 5: 104,665,528 (GRCm39) T17A probably benign Het
Tmem130 A G 5: 144,689,255 (GRCm39) S129P probably damaging Het
Trim68 A T 7: 102,328,348 (GRCm39) probably null Het
Vdac3-ps1 T C 13: 18,206,034 (GRCm39) noncoding transcript Het
Vmn2r75 A G 7: 85,797,240 (GRCm39) probably benign Het
Zbtb9 G T 17: 27,193,985 (GRCm39) probably benign Het
Zfp568 T A 7: 29,687,233 (GRCm39) probably null Het
Other mutations in Cartpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2203:Cartpt UTSW 13 100,037,133 (GRCm39) missense probably benign 0.18
R2204:Cartpt UTSW 13 100,037,133 (GRCm39) missense probably benign 0.18
R4670:Cartpt UTSW 13 100,036,588 (GRCm39) critical splice acceptor site probably null
R4671:Cartpt UTSW 13 100,036,588 (GRCm39) critical splice acceptor site probably null
R5989:Cartpt UTSW 13 100,035,492 (GRCm39) missense probably damaging 1.00
Z1176:Cartpt UTSW 13 100,036,491 (GRCm39) nonsense probably null
Posted On 2013-06-21