Incidental Mutation 'IGL03180:Cpt2'
ID412197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpt2
Ensembl Gene ENSMUSG00000028607
Gene Namecarnitine palmitoyltransferase 2
SynonymsCPT II, CPTII
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.207) question?
Stock #IGL03180
Quality Score
Status
Chromosome4
Chromosomal Location107903981-107923610 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 107906960 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 536 (S536T)
Ref Sequence ENSEMBL: ENSMUSP00000030345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644]
Predicted Effect probably damaging
Transcript: ENSMUST00000030345
AA Change: S536T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: S536T

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,175,635 Y321H probably benign Het
Adam28 T A 14: 68,637,434 I265L probably damaging Het
Adcy8 T C 15: 64,783,950 D560G possibly damaging Het
Aff3 A G 1: 38,535,662 M79T probably damaging Het
Ahctf1 A G 1: 179,775,330 probably null Het
Aspn C T 13: 49,563,515 R256W probably damaging Het
Birc6 T C 17: 74,659,231 V4051A probably benign Het
Cfap46 G A 7: 139,603,252 L2584F unknown Het
Chdh T A 14: 30,034,602 probably null Het
Clasp1 A G 1: 118,505,525 T245A probably benign Het
Clec4a1 G A 6: 122,924,818 V70I probably benign Het
Dnah9 A T 11: 65,886,639 H3694Q probably damaging Het
Dntt T A 19: 41,029,551 F38Y probably benign Het
Eif4ebp2 T C 10: 61,433,810 E117G probably damaging Het
Eif5b T C 1: 38,036,269 I609T probably damaging Het
Esam G A 9: 37,534,570 G135S probably damaging Het
Fut7 C A 2: 25,425,453 A241D possibly damaging Het
Grin2d T A 7: 45,853,329 K706M probably damaging Het
Grip2 A G 6: 91,785,761 probably benign Het
Gtf2ird2 A G 5: 134,191,248 T22A probably damaging Het
Hadh T C 3: 131,271,884 I42V probably benign Het
Iqsec3 T A 6: 121,413,508 probably benign Het
Izumo3 G A 4: 92,146,287 probably benign Het
Ldlrad1 G T 4: 107,217,835 C193F probably damaging Het
Lgals4 G A 7: 28,837,628 G118R probably damaging Het
Map4k1 A C 7: 28,988,085 E136A probably damaging Het
Mapk8ip1 G T 2: 92,386,912 P346Q possibly damaging Het
Mkl2 A G 16: 13,398,332 K303E probably damaging Het
Nlrp14 T A 7: 107,182,626 H343Q probably benign Het
Ogg1 T G 6: 113,333,494 probably null Het
Olfr1023 A T 2: 85,887,396 M199L probably benign Het
Olfr361 C T 2: 37,085,710 V13M possibly damaging Het
Pafah1b1 A T 11: 74,683,518 C281S possibly damaging Het
Papss1 C T 3: 131,607,382 R386W probably damaging Het
Pex5 A G 6: 124,413,563 probably benign Het
Pibf1 C A 14: 99,133,344 Q261K probably benign Het
Plcb3 T C 19: 6,956,153 S935G probably benign Het
Polg A G 7: 79,451,853 probably benign Het
Ptpdc1 G A 13: 48,586,077 T626I probably damaging Het
Rab34 A T 11: 78,190,318 Y87F probably damaging Het
Rsrc1 T G 3: 67,082,543 probably benign Het
Ryr2 T C 13: 11,568,563 N4735S possibly damaging Het
Scn7a T C 2: 66,676,234 D1437G possibly damaging Het
Sdk1 A G 5: 142,085,742 E1229G probably damaging Het
Sez6l A T 5: 112,436,285 V806D probably damaging Het
Sgsm2 A C 11: 74,868,575 probably null Het
Sla A G 15: 66,789,720 I121T probably benign Het
Son T C 16: 91,657,008 L881S probably damaging Het
Srms A G 2: 181,212,780 probably benign Het
Stoml1 T C 9: 58,260,917 S304P probably damaging Het
Stt3a T C 9: 36,759,256 D73G probably damaging Het
Tmem206 G T 1: 191,338,892 V82F probably damaging Het
Tpp1 T C 7: 105,746,649 T558A probably benign Het
Trp53i13 T C 11: 77,512,702 probably benign Het
Vmn2r77 A G 7: 86,801,635 Y243C possibly damaging Het
Vwde T C 6: 13,205,765 D261G probably damaging Het
Wdr60 T C 12: 116,218,865 S706G probably benign Het
Zfpm2 A G 15: 41,101,394 K293R probably damaging Het
Other mutations in Cpt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02655:Cpt2 APN 4 107907427 missense probably damaging 1.00
IGL02755:Cpt2 APN 4 107907775 missense probably damaging 1.00
IGL02803:Cpt2 APN 4 107907386 missense probably benign
IGL03066:Cpt2 APN 4 107907986 missense probably benign 0.01
R0037:Cpt2 UTSW 4 107907974 missense probably damaging 0.99
R0046:Cpt2 UTSW 4 107904362 splice site probably null
R0046:Cpt2 UTSW 4 107904362 splice site probably null
R0598:Cpt2 UTSW 4 107906938 missense probably damaging 1.00
R1844:Cpt2 UTSW 4 107904255 missense possibly damaging 0.68
R2432:Cpt2 UTSW 4 107904526 nonsense probably null
R6326:Cpt2 UTSW 4 107914316 missense probably benign 0.00
R6682:Cpt2 UTSW 4 107904430 missense probably damaging 1.00
R6803:Cpt2 UTSW 4 107912664 missense probably damaging 1.00
R7463:Cpt2 UTSW 4 107908157 missense probably damaging 1.00
R7491:Cpt2 UTSW 4 107907142 missense probably damaging 1.00
R7572:Cpt2 UTSW 4 107907548 missense probably damaging 1.00
R7645:Cpt2 UTSW 4 107906974 missense possibly damaging 0.92
R8513:Cpt2 UTSW 4 107906926 missense probably damaging 1.00
Posted On2016-08-02