Incidental Mutation 'IGL01133:Cartpt'
ID52600
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cartpt
Ensembl Gene ENSMUSG00000021647
Gene NameCART prepropeptide
SynonymsCart
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.405) question?
Stock #IGL01133
Quality Score
Status
Chromosome13
Chromosomal Location99898489-99901091 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 99900040 bp
ZygosityHeterozygous
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]
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
0610010F05Rik A T 11: 23,595,434 D486E probably damaging Het
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
1700007G11Rik T C 5: 98,498,381 probably null Het
Adam4 T C 12: 81,421,446 T134A possibly damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
BC005561 A G 5: 104,517,662 T17A probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Ccer1 T C 10: 97,694,539 F355L probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cfap36 A C 11: 29,234,414 V114G probably damaging Het
Col4a3bp A G 13: 96,614,802 E320G probably damaging Het
Cyp2b9 G A 7: 26,210,235 G476D probably damaging Het
Eif3l T C 15: 79,076,920 Y58H possibly damaging Het
Gapvd1 T C 2: 34,725,398 Y411C probably damaging Het
Gm27029 G T 11: 101,411,960 F236L possibly damaging Het
Golga1 T C 2: 39,023,472 T501A probably benign Het
Heg1 C T 16: 33,727,287 H815Y probably benign Het
Krt1 A T 15: 101,848,193 D298E probably damaging Het
Mecr T A 4: 131,843,596 S32T probably benign Het
Med1 A T 11: 98,157,986 Y661* probably null Het
Olfr419 T C 1: 174,250,526 S134G probably benign Het
Pla2g12b G T 10: 59,416,417 A37S probably benign Het
Plekha7 G T 7: 116,145,241 probably null Het
Ralgapa1 T C 12: 55,642,348 I1989V probably damaging Het
Ralgapa1 T C 12: 55,642,359 H1938R probably damaging Het
Sec31b A G 19: 44,527,041 F309S probably damaging Het
Serpina3a T C 12: 104,121,499 I227T probably benign Het
Slc1a3 A G 15: 8,645,687 I278T probably damaging Het
Slc1a3 T C 15: 8,650,993 Y127C probably damaging Het
Spen T C 4: 141,489,901 K449R unknown Het
Tmem130 A G 5: 144,752,445 S129P probably damaging Het
Trim68 A T 7: 102,679,141 probably null Het
Vdac3-ps1 T C 13: 18,031,449 noncoding transcript Het
Vmn2r75 A G 7: 86,148,032 probably benign Het
Zbtb9 G T 17: 26,975,011 probably benign Het
Zfp568 T A 7: 29,987,808 probably null Het
Other mutations in Cartpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2203:Cartpt UTSW 13 99900625 missense probably benign 0.18
R2204:Cartpt UTSW 13 99900625 missense probably benign 0.18
R4670:Cartpt UTSW 13 99900080 critical splice acceptor site probably null
R4671:Cartpt UTSW 13 99900080 critical splice acceptor site probably null
R5989:Cartpt UTSW 13 99898984 missense probably damaging 1.00
Posted On2013-06-21