Incidental Mutation 'R4671:Cartpt'
ID 348454
Institutional Source Beutler Lab
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 # R4671 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100034991-100037191 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) C to T at 100036588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022150 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022150] [ENSMUST00000224142]
AlphaFold P56388
Predicted Effect probably null
Transcript: ENSMUST00000022150
SMART Domains Protein: ENSMUSP00000022150
Gene: ENSMUSG00000021647

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:CART 64 129 1.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224142
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,789,157 (GRCm39) S271P probably benign Het
Acod1 T G 14: 103,284,508 (GRCm39) M2R probably benign Het
Adamts20 T C 15: 94,301,206 (GRCm39) E106G possibly damaging Het
Adgra3 G A 5: 50,136,710 (GRCm39) T661M probably damaging Het
Akap13 T A 7: 75,229,312 (GRCm39) C161* probably null Het
Akr1c12 A C 13: 4,323,816 (GRCm39) S162A possibly damaging Het
Anks1 C A 17: 28,270,552 (GRCm39) H805N probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Banf1 T C 19: 5,415,872 (GRCm39) R33G probably benign Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cacna1c G T 6: 118,629,019 (GRCm39) H1240N probably damaging Het
Ccdc127 T A 13: 74,505,164 (GRCm39) Y237* probably null Het
Ccnb1ip1 A T 14: 51,029,734 (GRCm39) Y109* probably null Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Cps1 A G 1: 67,235,719 (GRCm39) Y951C probably damaging Het
Dcakd T C 11: 102,890,634 (GRCm39) E51G possibly damaging Het
Dennd4a A T 9: 64,801,689 (GRCm39) N944I probably benign Het
Dus3l C T 17: 57,075,566 (GRCm39) R430C probably benign Het
Dync2h1 A G 9: 7,169,640 (GRCm39) L279P possibly damaging Het
Dzip3 G A 16: 48,799,953 (GRCm39) Q112* probably null Het
Eif1ad T A 19: 5,418,219 (GRCm39) M1K probably null Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fancg T C 4: 43,005,272 (GRCm39) E366G probably benign Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm11938 A T 11: 99,493,832 (GRCm39) C88S possibly damaging Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Gucy2g T A 19: 55,226,500 (GRCm39) I139F probably damaging Het
Iqub A T 6: 24,479,183 (GRCm39) M453K probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kif23 A T 9: 61,852,641 (GRCm39) D24E probably benign Het
Kmt2c T C 5: 25,571,175 (GRCm39) N845S probably damaging Het
Lhx5 G A 5: 120,578,032 (GRCm39) S284N probably benign Het
Lipf T G 19: 33,954,076 (GRCm39) V389G possibly damaging Het
Lrrc7 C T 3: 157,908,132 (GRCm39) probably null Het
Magi1 A G 6: 93,657,768 (GRCm39) probably null Het
Mast2 A G 4: 116,165,847 (GRCm39) S1287P probably damaging Het
Mepce C T 5: 137,784,905 (GRCm39) probably benign Het
Mkrn1 A G 6: 39,382,691 (GRCm39) V173A probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or1n2 G A 2: 36,797,405 (GRCm39) C149Y probably benign Het
Or2j6 T G 7: 139,980,218 (GRCm39) Y247S probably damaging Het
Or4k44 A T 2: 111,368,280 (GRCm39) M118K probably damaging Het
Or51e2 A G 7: 102,391,808 (GRCm39) V134A probably damaging Het
Or56a3b T C 7: 104,771,513 (GRCm39) L283P probably damaging Het
Parp14 A G 16: 35,678,691 (GRCm39) F426L probably benign Het
Pcf11 A T 7: 92,306,737 (GRCm39) S1144T possibly damaging Het
Prpf3 T A 3: 95,758,976 (GRCm39) T59S possibly damaging Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Ptk7 A G 17: 46,885,392 (GRCm39) V678A probably benign Het
Rb1 A G 14: 73,511,116 (GRCm39) L331S probably damaging Het
Relch A G 1: 105,646,584 (GRCm39) I637V probably benign Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpina1e G A 12: 103,914,341 (GRCm39) R328W probably damaging Het
Sertad3 T G 7: 27,176,091 (GRCm39) L175R possibly damaging Het
Stard9 G T 2: 120,529,121 (GRCm39) G1793W probably damaging Het
Stra6 T C 9: 58,056,517 (GRCm39) I383T probably benign Het
Tcf7l1 A G 6: 72,626,161 (GRCm39) L154P probably damaging Het
Tent5c C A 3: 100,380,515 (GRCm39) L80F probably benign Het
Tonsl A T 15: 76,507,610 (GRCm39) D55E probably benign Het
Ttc21b A G 2: 66,057,257 (GRCm39) S572P possibly damaging Het
Ttc7 T A 17: 87,654,048 (GRCm39) L575Q probably damaging Het
Ubl4b C T 3: 107,462,194 (GRCm39) S22N probably damaging Het
Ubr4 T C 4: 139,163,502 (GRCm39) V2634A possibly damaging Het
Zbed6 A G 1: 133,584,778 (GRCm39) V853A probably benign Het
Zfp46 A C 4: 136,017,484 (GRCm39) D106A probably damaging Het
Zfp951 A C 5: 104,962,567 (GRCm39) I333S probably benign Het
Other mutations in Cartpt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Cartpt APN 13 100,036,548 (GRCm39) missense probably benign 0.10
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
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'- AGACCGTGTGTAAGATTCTAGG -3'
(R):5'- TCGAGCGAATCCCTAGTTGTG -3'

Sequencing Primer
(F):5'- GACCGTGTGTAAGATTCTAGGCAATC -3'
(R):5'- AATCCCTAGTTGTGGCCGGTC -3'
Posted On 2015-10-08