Incidental Mutation 'IGL02803:Cpt2'
ID 360323
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpt2
Ensembl Gene ENSMUSG00000028607
Gene Name carnitine palmitoyltransferase 2
Synonyms CPTII, CPT II
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02803
Quality Score
Status
Chromosome 4
Chromosomal Location 107761179-107780786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107764583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 394 (T394A)
Ref Sequence ENSEMBL: ENSMUSP00000030345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644]
AlphaFold P52825
Predicted Effect probably benign
Transcript: ENSMUST00000030345
AA Change: T394A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: T394A

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 benign
Transcript: ENSMUST00000106720
SMART Domains Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607

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
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agmo C T 12: 37,302,480 (GRCm39) L106F probably benign Het
Appl1 A G 14: 26,673,473 (GRCm39) I208T possibly damaging Het
Arap2 G T 5: 62,906,452 (GRCm39) A189D probably benign Het
Arhgef12 T C 9: 42,883,324 (GRCm39) K1402E possibly damaging Het
C7 A C 15: 5,079,042 (GRCm39) F89V probably damaging Het
Camsap2 G A 1: 136,208,861 (GRCm39) T877I probably damaging Het
Csnk2a1 G T 2: 152,116,005 (GRCm39) probably benign Het
Dnah10 C A 5: 124,875,078 (GRCm39) T2528N probably damaging Het
Entpd8 G T 2: 24,975,151 (GRCm39) W494L probably damaging Het
Fam114a1 T A 5: 65,163,135 (GRCm39) probably benign Het
Fat4 T C 3: 38,943,444 (GRCm39) V779A probably damaging Het
Gckr T C 5: 31,455,548 (GRCm39) S34P probably damaging Het
Golga4 T C 9: 118,364,528 (GRCm39) V297A probably benign Het
Gpr65 T C 12: 98,241,469 (GRCm39) S41P probably damaging Het
Gps1 G T 11: 120,677,649 (GRCm39) A221S probably damaging Het
Heatr1 T A 13: 12,448,867 (GRCm39) S1861T probably damaging Het
Hmces A G 6: 87,902,711 (GRCm39) E184G probably damaging Het
Itfg1 T C 8: 86,452,140 (GRCm39) probably null Het
Mrtfb C T 16: 13,221,020 (GRCm39) T743I possibly damaging Het
Nfe2l3 A G 6: 51,434,291 (GRCm39) S284G possibly damaging Het
Nlrp2 C A 7: 5,331,317 (GRCm39) A360S probably damaging Het
Nop9 A G 14: 55,987,533 (GRCm39) H298R probably benign Het
Or5an1 A T 19: 12,261,347 (GRCm39) S312C possibly damaging Het
Or5h17 T A 16: 58,820,321 (GRCm39) V91E probably benign Het
Or6ae1 T C 7: 139,742,287 (GRCm39) D192G possibly damaging Het
Osgin1 A G 8: 120,170,006 (GRCm39) M158V probably benign Het
Patj C A 4: 98,314,301 (GRCm39) Q374K probably damaging Het
Pck1 G T 2: 172,997,797 (GRCm39) G289W probably damaging Het
Phkg1 T G 5: 129,894,895 (GRCm39) I219L possibly damaging Het
Ppp1r15b G A 1: 133,061,081 (GRCm39) A533T probably damaging Het
Ppwd1 T C 13: 104,350,192 (GRCm39) I398V probably benign Het
Prkdc A G 16: 15,651,530 (GRCm39) probably benign Het
Psg25 G A 7: 18,260,212 (GRCm39) L229F possibly damaging Het
Rps6ka1 T A 4: 133,608,265 (GRCm39) Q24L probably benign Het
Sgk3 T C 1: 9,949,273 (GRCm39) I147T possibly damaging Het
Slc25a24 T A 3: 109,062,387 (GRCm39) I159N probably damaging Het
Slc26a4 T C 12: 31,572,526 (GRCm39) probably null Het
Slc35f4 T C 14: 49,541,714 (GRCm39) I347V probably benign Het
Spag17 A T 3: 100,016,713 (GRCm39) M2163L probably benign Het
Stab2 C T 10: 86,786,133 (GRCm39) probably benign Het
Sult2a8 G A 7: 14,145,630 (GRCm39) probably benign Het
Syne2 T C 12: 76,078,320 (GRCm39) L4718P probably damaging Het
Timd4 G T 11: 46,706,521 (GRCm39) G108W probably damaging Het
Timm9 T C 12: 71,173,148 (GRCm39) probably benign Het
Vmn2r98 G A 17: 19,286,275 (GRCm39) V258I probably benign Het
Zcchc9 C T 13: 91,949,000 (GRCm39) V174I probably benign Het
Zdbf2 T C 1: 63,342,236 (GRCm39) V205A possibly damaging 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
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
R2432:Cpt2 UTSW 4 107,761,723 (GRCm39) nonsense probably null
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
Posted On 2015-12-18