Incidental Mutation 'R6983:Crot'
ID 542774
Institutional Source Beutler Lab
Gene Symbol Crot
Ensembl Gene ENSMUSG00000003623
Gene Name carnitine O-octanoyltransferase
Synonyms 1200003H03Rik
MMRRC Submission 045090-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6983 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 9016033-9047324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 9028280 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 223 (Y223S)
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 benign
Transcript: ENSMUST00000003720
AA Change: Y223S

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: Y223S

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 20 604 2.3e-167 PFAM
Meta Mutation Damage Score 0.1284 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
Validation Efficiency 98% (65/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,953,686 (GRCm39) V530A probably benign Het
Adgrg6 T C 10: 14,307,439 (GRCm39) N816D probably damaging Het
Aebp2 T C 6: 140,583,389 (GRCm39) F288L possibly damaging Het
Afdn T C 17: 14,101,583 (GRCm39) S1024P probably damaging Het
Akap6 A C 12: 52,934,436 (GRCm39) K643Q probably damaging Het
Atg2a A T 19: 6,310,070 (GRCm39) D1751V probably damaging Het
Best2 T A 8: 85,736,405 (GRCm39) I253F probably benign Het
Bmp1 G T 14: 70,745,647 (GRCm39) P55T probably damaging Het
C1s1 C A 6: 124,517,855 (GRCm39) V42F possibly damaging Het
Ccdc115 A G 1: 34,478,122 (GRCm39) probably null Het
Cdc42bpg C T 19: 6,371,698 (GRCm39) P1326S probably damaging Het
Cdhr3 G A 12: 33,092,379 (GRCm39) T744I probably benign Het
Cit T G 5: 116,132,150 (GRCm39) L1745R probably damaging Het
Commd6 A T 14: 101,874,488 (GRCm39) S39T probably damaging Het
Crybg1 G T 10: 43,875,338 (GRCm39) A590D probably damaging Het
Cwf19l2 G A 9: 3,477,817 (GRCm39) E841K probably damaging Het
Dennd4c T C 4: 86,717,730 (GRCm39) Y576H probably damaging Het
Diaph1 A T 18: 38,022,822 (GRCm39) V749E probably damaging Het
Ell2 C A 13: 75,910,006 (GRCm39) L119M probably damaging Het
F5 A T 1: 164,021,698 (GRCm39) D1391V probably damaging Het
Foxf2 T A 13: 31,811,180 (GRCm39) M373K probably benign Het
Fstl1 A T 16: 37,651,980 (GRCm39) E287D probably benign Het
Gltpd2 T C 11: 70,411,110 (GRCm39) Y134H probably damaging Het
Hemgn T A 4: 46,395,997 (GRCm39) H413L possibly damaging Het
Herc2 G A 7: 55,756,201 (GRCm39) R747H possibly damaging Het
Hykk T C 9: 54,853,793 (GRCm39) S372P probably benign Het
Inava A G 1: 136,147,894 (GRCm39) S353P possibly damaging Het
Ints10 T C 8: 69,246,703 (GRCm39) V11A probably damaging Het
Khdrbs1 A G 4: 129,614,635 (GRCm39) V306A probably benign Het
Lamtor2 G A 3: 88,460,146 (GRCm39) Q9* probably null Het
Lonp2 T A 8: 87,350,876 (GRCm39) V22E probably damaging Het
Mad1l1 T C 5: 140,179,739 (GRCm39) E383G probably damaging Het
Man2b1 T A 8: 85,817,700 (GRCm39) probably null Het
Mtch1 T C 17: 29,557,750 (GRCm39) I243V probably damaging Het
Myo18a T A 11: 77,736,341 (GRCm39) M1546K probably benign Het
Ntf3 T C 6: 126,078,808 (GRCm39) T233A probably damaging Het
Omg T C 11: 79,392,764 (GRCm39) S365G probably benign Het
Or52ad1 C T 7: 102,996,022 (GRCm39) V38I probably benign Het
Otol1 T A 3: 69,935,374 (GRCm39) N455K probably damaging Het
Pakap T A 4: 57,709,973 (GRCm39) V306D probably damaging Het
Pde4dip A T 3: 97,625,552 (GRCm39) Y1349N probably damaging Het
Pitpnm2 A G 5: 124,271,469 (GRCm39) L368P probably damaging Het
Pnpla8 T A 12: 44,330,030 (GRCm39) I194K possibly damaging Het
Podn T C 4: 107,881,470 (GRCm39) probably null Het
Potefam1 A G 2: 111,058,595 (GRCm39) probably null Het
Pramel6 A T 2: 87,339,923 (GRCm39) E229V possibly damaging Het
Ptpro C T 6: 137,426,915 (GRCm39) P262L probably damaging Het
Rnf122 A T 8: 31,608,488 (GRCm39) T19S probably benign Het
Shank2 T A 7: 143,635,585 (GRCm39) Y320N possibly damaging Het
Slc2a9 A C 5: 38,549,064 (GRCm39) I243S probably damaging Het
Slc5a6 A T 5: 31,197,749 (GRCm39) M130K probably benign Het
Stx5a A G 19: 8,732,533 (GRCm39) probably benign Het
Tbr1 G T 2: 61,642,079 (GRCm39) G185V probably damaging Het
Tg A G 15: 66,565,207 (GRCm39) D1183G probably benign Het
Thbs1 A T 2: 117,950,433 (GRCm39) I689F probably damaging Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trub2 A T 2: 29,677,796 (GRCm39) probably benign Het
Ttn A G 2: 76,597,306 (GRCm39) V19869A probably damaging Het
Tufm T C 7: 126,088,607 (GRCm39) V303A possibly damaging Het
Vezf1 T C 11: 87,964,145 (GRCm39) I99T possibly damaging Het
Vmn2r1 T C 3: 63,989,118 (GRCm39) V19A probably benign Het
Xpc C T 6: 91,481,005 (GRCm39) R289K probably damaging Het
Zfp811 T A 17: 33,016,406 (GRCm39) K545* probably null Het
Zmiz2 G A 11: 6,352,413 (GRCm39) D623N 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGGGCTTGTTAGAGAAAGTTTATT -3'
(R):5'- CCCTGGAAATGCTCATATATTCCAAGT -3'

Sequencing Primer
(F):5'- TATTCACACGACAGCTTCTGGGAG -3'
(R):5'- CACATTATATATAGTGCGTGCGTGC -3'
Posted On 2018-11-28