Incidental Mutation 'IGL02884:Crot'
ID 362944
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 # IGL02884
Quality Score
Status
Chromosome 5
Chromosomal Location 9016033-9047324 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 9028197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000003720
SMART Domains Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 20 604 2.3e-167 PFAM
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik A G 11: 58,178,302 (GRCm39) I121V probably benign Het
Adprh C T 16: 38,266,396 (GRCm39) V249I probably benign Het
Akap11 A T 14: 78,736,402 (GRCm39) M1797K probably benign Het
Akap6 T A 12: 52,933,405 (GRCm39) I299N probably benign Het
Akr1c12 A T 13: 4,322,211 (GRCm39) M277K possibly damaging Het
Ankrd17 A T 5: 90,412,616 (GRCm39) M1236K probably damaging Het
Arhgef11 A G 3: 87,635,313 (GRCm39) D874G probably damaging Het
Atg4b T C 1: 93,715,437 (GRCm39) probably benign Het
Bcl9 G A 3: 97,117,368 (GRCm39) P442L probably damaging Het
Ccdc107 A T 4: 43,495,228 (GRCm39) K98* probably null Het
Cenpl A G 1: 160,913,619 (GRCm39) Q343R probably benign Het
Cep104 T C 4: 154,074,319 (GRCm39) C524R probably damaging Het
Clec3b C T 9: 122,985,827 (GRCm39) T75I probably benign Het
Col13a1 A T 10: 61,741,064 (GRCm39) probably benign Het
Ddo G A 10: 40,513,360 (GRCm39) V101I probably benign Het
Disp2 T C 2: 118,618,032 (GRCm39) probably benign Het
Dnmt3b A C 2: 153,516,297 (GRCm39) Y474S probably damaging Het
Dpp6 T A 5: 27,839,554 (GRCm39) N298K possibly damaging Het
Fbf1 C T 11: 116,037,339 (GRCm39) E940K probably damaging Het
Fgd6 A G 10: 93,881,501 (GRCm39) probably benign Het
H2-M10.2 T C 17: 36,595,568 (GRCm39) R241G probably damaging Het
Haghl A T 17: 26,002,072 (GRCm39) F207Y possibly damaging Het
Helt G A 8: 46,745,620 (GRCm39) R88C probably damaging Het
Igf2bp2 T C 16: 21,981,635 (GRCm39) K27E probably benign Het
Il1b T C 2: 129,207,022 (GRCm39) H246R probably benign Het
Itprid1 T C 6: 55,851,339 (GRCm39) probably null Het
Kcnu1 C T 8: 26,411,556 (GRCm39) S167L probably damaging Het
Kif16b A T 2: 142,544,534 (GRCm39) probably benign Het
Myh7 A T 14: 55,230,276 (GRCm39) S19T probably benign Het
Ncaph2 T C 15: 89,248,447 (GRCm39) probably null Het
Nlrp4c T C 7: 6,101,951 (GRCm39) L879P probably damaging Het
Nqo2 T A 13: 34,156,344 (GRCm39) N19K probably damaging Het
Or2r2 C T 6: 42,463,540 (GRCm39) V196M probably damaging Het
Osbpl1a C A 18: 12,952,635 (GRCm39) G93* probably null Het
Pdxdc1 A G 16: 13,661,659 (GRCm39) F459L possibly damaging Het
Phc2 A T 4: 128,601,809 (GRCm39) H88L probably damaging Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Ptchd4 A T 17: 42,813,340 (GRCm39) T414S possibly damaging Het
Rab7b A G 1: 131,626,280 (GRCm39) R103G probably damaging Het
Retnla A G 16: 48,662,943 (GRCm39) Y3C probably benign Het
Samd7 G A 3: 30,810,322 (GRCm39) R113H probably damaging Het
Shisa9 G A 16: 11,814,907 (GRCm39) probably benign Het
Soat1 A T 1: 156,268,926 (GRCm39) I208N possibly damaging Het
Stab1 C A 14: 30,872,100 (GRCm39) probably null Het
Tti2 C T 8: 31,641,505 (GRCm39) L210F possibly damaging Het
Ube2v2 A G 16: 15,374,349 (GRCm39) V77A probably benign Het
Ubr5 T C 15: 37,998,620 (GRCm39) E1617G probably damaging Het
Vmn2r16 T A 5: 109,508,757 (GRCm39) I495K possibly damaging Het
Vwce G T 19: 10,623,943 (GRCm39) R278L possibly damaging Het
Wdr26 C T 1: 181,010,349 (GRCm39) A551T probably damaging Het
Wee1 A G 7: 109,725,269 (GRCm39) I304V probably benign Het
Xrcc5 C T 1: 72,385,396 (GRCm39) H496Y possibly damaging Het
Zfp142 G T 1: 74,611,142 (GRCm39) S884R probably damaging Het
Other mutations in Crot
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00756:Crot APN 5 9,026,072 (GRCm39) missense probably damaging 1.00
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
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 2015-12-18