Incidental Mutation 'R2432:Cpt2'
ID 250436
Institutional Source Beutler Lab
Gene Symbol Cpt2
Ensembl Gene ENSMUSG00000028607
Gene Name carnitine palmitoyltransferase 2
Synonyms CPTII, CPT II
MMRRC Submission 040393-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.144) question?
Stock # R2432 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 107761179-107780786 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 107761723 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 126 (Y126*)
Ref Sequence ENSEMBL: ENSMUSP00000102331 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644]
AlphaFold P52825
Predicted Effect probably null
Transcript: ENSMUST00000030345
AA Change: Y561*
SMART Domains Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: Y561*

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 49 648 1.4e-190 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106719
SMART Domains Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 48 265 1.9e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106720
AA Change: Y126*
SMART Domains Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607
AA Change: Y126*

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 48 113 2.1e-21 PFAM
Pfam:Carn_acyltransf 101 214 1.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131644
SMART Domains Protein: ENSMUSP00000114362
Gene: ENSMUSG00000028607

DomainStartEndE-ValueType
PDB:4EYW|B 27 88 2e-28 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175651
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,401,333 (GRCm39) probably benign Het
Adamts6 A T 13: 104,563,485 (GRCm39) Y659F probably benign Het
Adamts9 C A 6: 92,834,881 (GRCm39) G750W probably damaging Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Aspscr1 A G 11: 120,593,392 (GRCm39) probably benign Het
Calr3 A G 8: 73,192,270 (GRCm39) probably benign Het
Cyp2d34 A G 15: 82,503,212 (GRCm39) L94P probably damaging Het
Def6 A T 17: 28,447,043 (GRCm39) D558V probably benign Het
Dnase1l2 G A 17: 24,661,699 (GRCm39) T20I possibly damaging Het
Eif5b A G 1: 38,058,423 (GRCm39) K242E unknown Het
Golim4 T C 3: 75,799,249 (GRCm39) N478S possibly damaging Het
Helb A T 10: 119,941,442 (GRCm39) D415E probably benign Het
Ifna12 T A 4: 88,521,590 (GRCm39) probably benign Het
Jhy T A 9: 40,872,182 (GRCm39) H109L probably benign Het
Krt87 A T 15: 101,386,037 (GRCm39) Y241* probably null Het
Macf1 G T 4: 123,577,789 (GRCm39) A65E probably damaging Het
Mug2 C A 6: 122,061,335 (GRCm39) N1418K possibly damaging Het
Myo1f A G 17: 33,794,823 (GRCm39) D21G probably damaging Het
Myo5a T A 9: 75,120,155 (GRCm39) I1651N possibly damaging Het
Notch3 A T 17: 32,372,778 (GRCm39) C598S probably damaging Het
Npat A T 9: 53,469,435 (GRCm39) H307L probably damaging Het
Nr1h2 T C 7: 44,200,791 (GRCm39) Q279R possibly damaging Het
Or4k52 T C 2: 111,611,016 (GRCm39) V117A probably benign Het
Or6c6c A G 10: 129,540,794 (GRCm39) T16A possibly damaging Het
Pcdhb16 A T 18: 37,612,983 (GRCm39) N648Y probably damaging Het
Pdzrn3 G T 6: 101,127,752 (GRCm39) S971R probably damaging Het
Plch2 A G 4: 155,070,621 (GRCm39) *494Q probably null Het
Plekhg4 T A 8: 106,108,468 (GRCm39) D1170E probably benign Het
Plekhm3 A G 1: 64,977,015 (GRCm39) S152P probably damaging Het
Ppargc1b G A 18: 61,440,870 (GRCm39) P683S possibly damaging Het
Prdm12 T G 2: 31,541,864 (GRCm39) M191R probably benign Het
Prdm14 T C 1: 13,195,857 (GRCm39) D68G probably benign Het
Prp2 C T 6: 132,576,874 (GRCm39) P54S unknown Het
Prpf4b A G 13: 35,067,324 (GRCm39) probably benign Het
Ptprk T A 10: 28,468,840 (GRCm39) V1408E probably damaging Het
Rap1gds1 A G 3: 138,662,011 (GRCm39) M415T probably damaging Het
Rps6ka5 A G 12: 100,520,664 (GRCm39) F621S probably damaging Het
Rrm1 T A 7: 102,092,279 (GRCm39) D35E probably benign Het
Rxfp3 T C 15: 11,036,226 (GRCm39) H382R probably damaging Het
Slc11a1 A G 1: 74,422,910 (GRCm39) probably benign Het
Slc25a13 A T 6: 6,114,017 (GRCm39) M285K probably benign Het
Slc30a3 T C 5: 31,246,038 (GRCm39) S231G probably damaging Het
Slc44a2 A T 9: 21,256,130 (GRCm39) I274F probably damaging Het
Tas2r119 A G 15: 32,178,165 (GRCm39) I244V possibly damaging Het
Tenm2 C A 11: 35,918,018 (GRCm39) R1914L probably damaging Het
Tfdp2 T C 9: 96,192,643 (GRCm39) M242T probably damaging Het
Tmprss6 A G 15: 78,349,304 (GRCm39) probably benign Het
Ttc6 C T 12: 57,668,821 (GRCm39) P421L possibly damaging Het
Usp16 T A 16: 87,263,246 (GRCm39) probably null Het
Usp40 T C 1: 87,909,804 (GRCm39) E550G probably benign Het
Vmn2r28 T C 7: 5,491,701 (GRCm39) Y182C probably damaging Het
Zfp382 A G 7: 29,833,174 (GRCm39) D275G probably benign Het
Other mutations in Cpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02655:Cpt2 APN 4 107,764,624 (GRCm39) missense probably damaging 1.00
IGL02755:Cpt2 APN 4 107,764,972 (GRCm39) missense probably damaging 1.00
IGL02803:Cpt2 APN 4 107,764,583 (GRCm39) missense probably benign
IGL03066:Cpt2 APN 4 107,765,183 (GRCm39) missense probably benign 0.01
IGL03180:Cpt2 APN 4 107,764,157 (GRCm39) missense probably damaging 1.00
R0037:Cpt2 UTSW 4 107,765,171 (GRCm39) missense probably damaging 0.99
R0046:Cpt2 UTSW 4 107,761,559 (GRCm39) splice site probably null
R0046:Cpt2 UTSW 4 107,761,559 (GRCm39) splice site probably null
R0598:Cpt2 UTSW 4 107,764,135 (GRCm39) missense probably damaging 1.00
R1844:Cpt2 UTSW 4 107,761,452 (GRCm39) missense possibly damaging 0.68
R6326:Cpt2 UTSW 4 107,771,513 (GRCm39) missense probably benign 0.00
R6682:Cpt2 UTSW 4 107,761,627 (GRCm39) missense probably damaging 1.00
R6803:Cpt2 UTSW 4 107,769,861 (GRCm39) missense probably damaging 1.00
R7463:Cpt2 UTSW 4 107,765,354 (GRCm39) missense probably damaging 1.00
R7491:Cpt2 UTSW 4 107,764,339 (GRCm39) missense probably damaging 1.00
R7572:Cpt2 UTSW 4 107,764,745 (GRCm39) missense probably damaging 1.00
R7645:Cpt2 UTSW 4 107,764,171 (GRCm39) missense possibly damaging 0.92
R8480:Cpt2 UTSW 4 107,764,957 (GRCm39) missense probably damaging 1.00
R8513:Cpt2 UTSW 4 107,764,123 (GRCm39) missense probably damaging 1.00
R9323:Cpt2 UTSW 4 107,761,556 (GRCm39) missense probably benign 0.00
R9523:Cpt2 UTSW 4 107,764,354 (GRCm39) missense probably damaging 1.00
R9608:Cpt2 UTSW 4 107,765,341 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAGGAGACATTGCAGCCTATCC -3'
(R):5'- CATGTTTAGCCCATCTGTTGGC -3'

Sequencing Primer
(F):5'- GCCTATCCAGTCATCGTGAACAG -3'
(R):5'- CCATCTGTTGGCAGCTGAGAATATAG -3'
Posted On 2014-11-12