Incidental Mutation 'R4670:Cartpt'
ID 348380
Institutional Source Beutler Lab
Gene Symbol Cartpt
Ensembl Gene ENSMUSG00000021647
Gene Name CART prepropeptide
Synonyms Cart
MMRRC Submission 041926-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.405) question?
Stock # R4670 (G1)
Quality Score 204
Status 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: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (69/71)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm5 T A 7: 119,130,983 (GRCm39) probably null Het
Alb T A 5: 90,610,665 (GRCm39) S82T probably benign Het
Arf4 A G 14: 26,374,248 (GRCm39) probably benign Het
Arhgap22 T C 14: 33,084,500 (GRCm39) C260R probably damaging Het
Arhgap32 A G 9: 32,081,441 (GRCm39) E153G probably benign Het
Arhgef18 T A 8: 3,484,897 (GRCm39) M200K probably damaging Het
Atp1a4 T A 1: 172,062,567 (GRCm39) N647Y probably benign Het
Atp5f1c A T 2: 10,064,428 (GRCm39) L226Q probably damaging Het
Bcas1 T C 2: 170,226,245 (GRCm39) K310R probably damaging Het
Cadm3 T A 1: 173,174,013 (GRCm39) T67S probably damaging Het
Cenpj A T 14: 56,790,840 (GRCm39) V403E possibly damaging Het
Chst7 C A X: 19,927,110 (GRCm39) R386S probably damaging Het
Cyp4f37 A T 17: 32,844,126 (GRCm39) M77L probably benign Het
Dnah7b A T 1: 46,117,684 (GRCm39) D50V probably damaging Het
Galnt4 A G 10: 98,945,160 (GRCm39) D295G possibly damaging Het
Gin1 C T 1: 97,712,565 (GRCm39) P154S probably damaging Het
Gm6471 G A 7: 142,385,360 (GRCm39) noncoding transcript Het
Gm6818 T A 7: 38,101,981 (GRCm39) noncoding transcript Het
Gm9271 T A 7: 39,013,734 (GRCm39) noncoding transcript Het
Gpam A G 19: 55,084,551 (GRCm39) probably null Het
Gpr183 T C 14: 122,192,149 (GRCm39) D124G probably damaging Het
Ift140 C A 17: 25,317,935 (GRCm39) probably benign Het
Itih5 A C 2: 10,195,180 (GRCm39) I191L probably benign Het
Jcad A G 18: 4,674,175 (GRCm39) T646A probably benign Het
Kank1 T C 19: 25,387,944 (GRCm39) M511T probably benign Het
Krt74 A T 15: 101,667,304 (GRCm39) noncoding transcript Het
Lrrc37a A G 11: 103,395,363 (GRCm39) S21P probably benign Het
Lrrc8c G A 5: 105,756,240 (GRCm39) V672I probably benign Het
Lypd4 T C 7: 24,566,151 (GRCm39) R58G probably benign Het
Magi1 A T 6: 93,663,624 (GRCm39) probably null Het
Mefv T A 16: 3,526,071 (GRCm39) L745F possibly damaging Het
Myh13 A T 11: 67,255,564 (GRCm39) K1645* probably null Het
Naip6 A G 13: 100,431,239 (GRCm39) probably null Het
Nlrp1c-ps T C 11: 71,171,382 (GRCm39) noncoding transcript Het
Nsmce3 A T 7: 64,522,530 (GRCm39) L46Q probably benign Het
Or51aa2 A G 7: 103,188,393 (GRCm39) V16A possibly damaging Het
Or6k6 T A 1: 173,945,427 (GRCm39) M52L probably benign Het
Or8k37 T C 2: 86,469,512 (GRCm39) D180G possibly damaging Het
P2ry12 T C 3: 59,125,325 (GRCm39) probably null Het
Pcx T A 19: 4,669,916 (GRCm39) V861E probably damaging Het
Pkp3 C T 7: 140,662,612 (GRCm39) P75S probably benign Het
Plscr4 T C 9: 92,364,920 (GRCm39) probably null Het
Pole A G 5: 110,454,253 (GRCm39) T923A probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rhot2 A C 17: 26,060,305 (GRCm39) probably benign Het
Rsrp1 A G 4: 134,651,488 (GRCm39) Y84C unknown Het
Sbf2 T C 7: 109,934,606 (GRCm39) K1348E probably damaging Het
Sgip1 A T 4: 102,726,951 (GRCm39) N53Y probably damaging Het
Snapc2 A G 8: 4,304,998 (GRCm39) T127A possibly damaging Het
Snx8 A G 5: 140,341,713 (GRCm39) probably null Het
Spag8 A G 4: 43,653,378 (GRCm39) probably benign Het
Srebf2 T C 15: 82,076,503 (GRCm39) F718L probably damaging Het
Szt2 C G 4: 118,233,026 (GRCm39) probably benign Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Tubgcp4 T A 2: 121,004,146 (GRCm39) Y62* probably null Het
Usp29 T A 7: 6,965,914 (GRCm39) S586T possibly damaging Het
Vasp T C 7: 18,998,350 (GRCm39) N108S probably benign Het
Vmn1r214 A G 13: 23,219,141 (GRCm39) M212V probably benign Het
Wipi2 G C 5: 142,645,345 (GRCm39) A194P probably benign Het
Zbtb4 T A 11: 69,667,355 (GRCm39) I220N probably damaging Het
Zcchc2 A T 1: 105,917,996 (GRCm39) probably benign Het
Zfp729a T A 13: 67,769,534 (GRCm39) K232* probably null Het
Zfp995 A T 17: 22,106,320 (GRCm39) M1K probably null 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
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'- AAGACCGTGTGTAAGATTCTAGGC -3'
(R):5'- CGAGCGAATCCCTAGTTGTG -3'

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