Incidental Mutation 'R2203:Cartpt'
ID 238857
Institutional Source Beutler Lab
Gene Symbol Cartpt
Ensembl Gene ENSMUSG00000021647
Gene Name CART prepropeptide
Synonyms Cart
MMRRC Submission 040205-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R2203 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100034991-100037191 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100037133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 4 (S4T)
Ref Sequence ENSEMBL: ENSMUSP00000152981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022150] [ENSMUST00000224142]
AlphaFold P56388
Predicted Effect probably benign
Transcript: ENSMUST00000022150
AA Change: S4T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000022150
Gene: ENSMUSG00000021647
AA Change: S4T

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: S4T

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,090,291 (GRCm39) T386I probably damaging Het
Abcc5 C G 16: 20,224,632 (GRCm39) L44F possibly damaging Het
Abi3bp T G 16: 56,433,566 (GRCm39) L550R probably benign Het
Brca2 T A 5: 150,462,967 (GRCm39) D910E possibly damaging Het
Cacna1h C T 17: 25,599,234 (GRCm39) A1742T probably damaging Het
Ccdc66 T A 14: 27,208,790 (GRCm39) D488V probably benign Het
Cdan1 C A 2: 120,551,241 (GRCm39) C1093F probably damaging Het
Cfap45 T C 1: 172,359,728 (GRCm39) V76A probably benign Het
Clptm1 G T 7: 19,367,817 (GRCm39) F598L possibly damaging Het
Cntrl G A 2: 35,033,749 (GRCm39) V257I possibly damaging Het
Cpa1 A G 6: 30,641,818 (GRCm39) D214G probably damaging Het
Crebbp A C 16: 3,956,641 (GRCm39) M394R possibly damaging Het
Ctnnd1 A G 2: 84,447,024 (GRCm39) L407P probably damaging Het
Cttnbp2 T G 6: 18,408,693 (GRCm39) D976A probably benign Het
Dicer1 C T 12: 104,697,297 (GRCm39) V87M possibly damaging Het
Elapor1 C T 3: 108,382,359 (GRCm39) G270E probably damaging Het
Fam184a T A 10: 53,528,530 (GRCm39) Q29L probably damaging Het
Flnc C T 6: 29,459,507 (GRCm39) P2536S probably damaging Het
Gapdh A T 6: 125,139,569 (GRCm39) S165T probably benign Het
Gm6370 T A 5: 146,430,539 (GRCm39) D241E probably benign Het
Grik4 T A 9: 42,458,951 (GRCm39) S596C probably damaging Het
Gtf2e1 T A 16: 37,331,904 (GRCm39) E390D possibly damaging Het
Hmgcr A G 13: 96,793,141 (GRCm39) L497P probably damaging Het
Hmgcs2 T A 3: 98,198,499 (GRCm39) I134N probably damaging Het
Htr5b T C 1: 121,455,693 (GRCm39) T76A probably damaging Het
Iars1 A G 13: 49,876,151 (GRCm39) E812G probably benign Het
Ints8 A T 4: 11,225,712 (GRCm39) M615K possibly damaging Het
Jmjd1c A G 10: 67,075,242 (GRCm39) probably null Het
Kcnj5 T C 9: 32,234,196 (GRCm39) T40A probably benign Het
Knstrn T A 2: 118,661,456 (GRCm39) probably null Het
Map2k2 T C 10: 80,955,213 (GRCm39) S14P probably damaging Het
Med26 T C 8: 73,249,746 (GRCm39) E451G probably damaging Het
Nbeal1 T A 1: 60,323,165 (GRCm39) M2081K probably benign Het
Nectin4 G A 1: 171,213,797 (GRCm39) V433M possibly damaging Het
Nop56 T A 2: 130,119,488 (GRCm39) I51N probably damaging Het
Ntn4 C T 10: 93,543,215 (GRCm39) R314W probably damaging Het
Nudt5 A T 2: 5,860,794 (GRCm39) I22F possibly damaging Het
Or4p23 C G 2: 88,576,953 (GRCm39) G93A probably benign Het
Pbrm1 A G 14: 30,754,406 (GRCm39) D142G possibly damaging Het
Pdcl A T 2: 37,242,056 (GRCm39) N231K probably benign Het
Pkd1 G T 17: 24,799,863 (GRCm39) A591S probably benign Het
Plcb4 T C 2: 135,844,514 (GRCm39) I144T probably benign Het
Prrc2b C A 2: 32,113,476 (GRCm39) Q1970K probably damaging Het
Rabep1 A C 11: 70,825,400 (GRCm39) E689A probably damaging Het
Ralgapa1 T C 12: 55,659,585 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Saxo1 A C 4: 86,363,998 (GRCm39) Y162D probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sipa1l2 A T 8: 126,218,366 (GRCm39) W324R probably damaging Het
Slc19a1 T C 10: 76,877,758 (GRCm39) C98R possibly damaging Het
Slc26a8 G T 17: 28,866,981 (GRCm39) L583I probably benign Het
Spata31d1d A G 13: 59,879,435 (GRCm39) C34R possibly damaging Het
Stoml2 G T 4: 43,030,243 (GRCm39) Y119* probably null Het
Susd1 A G 4: 59,349,843 (GRCm39) L531P possibly damaging Het
Tnfsf14 T C 17: 57,497,638 (GRCm39) D198G possibly damaging Het
Ttc39a A G 4: 109,288,785 (GRCm39) N293S probably benign Het
Ttn T C 2: 76,601,985 (GRCm39) N18559S possibly damaging Het
Vmn2r104 A T 17: 20,250,083 (GRCm39) N729K probably benign Het
Zbtb47 A G 9: 121,591,703 (GRCm39) T8A possibly damaging Het
Zfp712 T A 13: 67,190,048 (GRCm39) T160S probably benign Het
Other mutations in Cartpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Cartpt APN 13 100,036,548 (GRCm39) missense probably benign 0.10
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
Predicted Primers PCR Primer
(F):5'- TTTAATCCAGCGTCAGGGGC -3'
(R):5'- GCTTGTTCATTGCCCCGAAG -3'

Sequencing Primer
(F):5'- ACCCTGTGGTAGTCCAGTG -3'
(R):5'- TCTAGCCCATCTGTGCGCAG -3'
Posted On 2014-10-02