Incidental Mutation 'IGL00756:Crot'
ID 9896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crot
Ensembl Gene ENSMUSG00000003623
Gene Name carnitine O-octanoyltransferase
Synonyms 1200003H03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL00756
Quality Score
Status
Chromosome 5
Chromosomal Location 9016033-9047324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 9026072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 305 (R305L)
Ref Sequence ENSEMBL: ENSMUSP00000003720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003720]
AlphaFold Q9DC50
PDB Structure Crystal Structure of Mouse Carnitine Octanoyltransferase [X-RAY DIFFRACTION]
Crystal structure of mouse carnitine octanoyltransferase in complex with octanoylcarnitine [X-RAY DIFFRACTION]
C323M mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
M335V mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000003720
AA Change: R305L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: R305L

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 20 604 2.3e-167 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120584
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146115
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2a A T 2: 48,763,064 (GRCm39) probably benign Het
Bltp1 C A 3: 36,962,367 (GRCm39) H489Q probably damaging Het
Col19a1 T A 1: 24,362,023 (GRCm39) K583N possibly damaging Het
Cplane1 A G 15: 8,293,931 (GRCm39) probably benign Het
Ctnnal1 A T 4: 56,829,544 (GRCm39) N428K possibly damaging Het
Dab1 A G 4: 104,585,075 (GRCm39) K405R probably benign Het
Dnah6 A C 6: 73,100,754 (GRCm39) F2016L possibly damaging Het
Fgfrl1 A G 5: 108,853,819 (GRCm39) K309E possibly damaging Het
Gucy1b2 T C 14: 62,640,658 (GRCm39) H749R probably benign Het
Mki67 A T 7: 135,300,460 (GRCm39) S1525T possibly damaging Het
Mob1a T A 6: 83,309,468 (GRCm39) Y72N probably damaging Het
Ntrk1 C T 3: 87,691,004 (GRCm39) E387K probably benign Het
Qser1 A G 2: 104,618,016 (GRCm39) M932T possibly damaging Het
Rarb C A 14: 16,443,791 (GRCm38) E166* probably null Het
Thnsl1 T A 2: 21,217,423 (GRCm39) H392Q probably benign Het
Tmem171 T A 13: 98,822,934 (GRCm39) R288S probably benign Het
Zc4h2 T A X: 94,685,807 (GRCm39) R186* probably null Het
Other mutations in Crot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Crot APN 5 9,043,575 (GRCm39) missense probably benign 0.06
IGL01085:Crot APN 5 9,023,955 (GRCm39) missense probably damaging 1.00
IGL02017:Crot APN 5 9,020,046 (GRCm39) splice site probably benign
IGL02306:Crot APN 5 9,018,701 (GRCm39) missense possibly damaging 0.94
IGL02612:Crot APN 5 9,019,945 (GRCm39) missense probably damaging 1.00
IGL02884:Crot APN 5 9,028,197 (GRCm39) critical splice donor site probably null
IGL03091:Crot APN 5 9,016,897 (GRCm39) missense probably benign
IGL03356:Crot APN 5 9,038,295 (GRCm39) splice site probably benign
ouray UTSW 5 9,043,504 (GRCm39) critical splice donor site probably null
R0383:Crot UTSW 5 9,018,734 (GRCm39) missense probably damaging 1.00
R0396:Crot UTSW 5 9,019,959 (GRCm39) missense probably damaging 1.00
R0502:Crot UTSW 5 9,026,075 (GRCm39) missense possibly damaging 0.66
R0503:Crot UTSW 5 9,026,075 (GRCm39) missense possibly damaging 0.66
R0676:Crot UTSW 5 9,043,622 (GRCm39) utr 5 prime probably benign
R1079:Crot UTSW 5 9,043,504 (GRCm39) critical splice donor site probably null
R1472:Crot UTSW 5 9,016,941 (GRCm39) missense probably damaging 1.00
R1595:Crot UTSW 5 9,024,186 (GRCm39) missense probably benign 0.00
R1757:Crot UTSW 5 9,037,828 (GRCm39) missense probably damaging 1.00
R1828:Crot UTSW 5 9,019,080 (GRCm39) missense probably benign 0.01
R1846:Crot UTSW 5 9,038,248 (GRCm39) missense probably benign 0.36
R2142:Crot UTSW 5 9,037,780 (GRCm39) missense possibly damaging 0.94
R3973:Crot UTSW 5 9,027,541 (GRCm39) missense probably benign
R3974:Crot UTSW 5 9,027,541 (GRCm39) missense probably benign
R3975:Crot UTSW 5 9,027,541 (GRCm39) missense probably benign
R4445:Crot UTSW 5 9,023,643 (GRCm39) missense probably damaging 1.00
R4446:Crot UTSW 5 9,023,643 (GRCm39) missense probably damaging 1.00
R4995:Crot UTSW 5 9,024,000 (GRCm39) missense probably damaging 1.00
R5084:Crot UTSW 5 9,019,994 (GRCm39) missense probably damaging 1.00
R5464:Crot UTSW 5 9,033,690 (GRCm39) splice site probably null
R5673:Crot UTSW 5 9,038,131 (GRCm39) missense probably benign 0.00
R5814:Crot UTSW 5 9,023,996 (GRCm39) missense probably damaging 0.99
R5935:Crot UTSW 5 9,024,192 (GRCm39) missense probably benign
R5951:Crot UTSW 5 9,019,120 (GRCm39) nonsense probably null
R6862:Crot UTSW 5 9,039,641 (GRCm39) missense probably damaging 0.99
R6885:Crot UTSW 5 9,023,635 (GRCm39) missense probably benign 0.00
R6983:Crot UTSW 5 9,028,280 (GRCm39) missense probably benign 0.06
R7150:Crot UTSW 5 9,037,878 (GRCm39) missense probably damaging 0.99
R7228:Crot UTSW 5 9,026,051 (GRCm39) missense probably damaging 1.00
R7361:Crot UTSW 5 9,027,534 (GRCm39) missense probably damaging 1.00
R7662:Crot UTSW 5 9,019,072 (GRCm39) missense probably damaging 1.00
R7747:Crot UTSW 5 9,018,869 (GRCm39) critical splice donor site probably null
R8002:Crot UTSW 5 9,043,599 (GRCm39) missense probably benign 0.36
R8105:Crot UTSW 5 9,027,505 (GRCm39) missense probably damaging 0.99
R8233:Crot UTSW 5 9,026,027 (GRCm39) missense possibly damaging 0.77
R8474:Crot UTSW 5 9,043,518 (GRCm39) missense probably damaging 1.00
R8519:Crot UTSW 5 9,023,629 (GRCm39) missense probably benign
R8734:Crot UTSW 5 9,028,208 (GRCm39) missense probably benign 0.02
R9528:Crot UTSW 5 9,043,575 (GRCm39) missense possibly damaging 0.46
R9649:Crot UTSW 5 9,024,170 (GRCm39) missense probably benign 0.03
Posted On 2012-12-06