Incidental Mutation 'R6885:Crat'
ID 536764
Institutional Source Beutler Lab
Gene Symbol Crat
Ensembl Gene ENSMUSG00000026853
Gene Name carnitine acetyltransferase
Synonyms CARAT
MMRRC Submission 045031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R6885 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 30290483-30305825 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 30305208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117317 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000042055] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000129494] [ENSMUST00000132981] [ENSMUST00000134120] [ENSMUST00000142096] [ENSMUST00000152165] [ENSMUST00000156702]
AlphaFold P47934
Predicted Effect probably benign
Transcript: ENSMUST00000028207
SMART Domains Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 616 1.9e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042055
SMART Domains Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 26 319 1.5e-126 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102854
SMART Domains Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 13 595 1.8e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102855
SMART Domains Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 35 615 2.4e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113601
SMART Domains Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 38 104 5.7e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113603
SMART Domains Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515

DomainStartEndE-ValueType
low complexity region 8 20 N/A INTRINSIC
Pfam:PTPA 64 280 5.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129494
Predicted Effect probably benign
Transcript: ENSMUST00000132981
SMART Domains Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 76 2.3e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000134120
Predicted Effect probably benign
Transcript: ENSMUST00000142096
Predicted Effect probably benign
Transcript: ENSMUST00000152165
Predicted Effect probably benign
Transcript: ENSMUST00000156702
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice with muscle specific loss of function display increased circulating glucose level, impaired glucose tolerance, insulin resistance, decreased circulating triglyceride and free fatty acid levels, increased susceptibility to diet-induced obesity and abnormal mitochondrial physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,119,332 (GRCm39) I1025M probably benign Het
Adamtsl5 T A 10: 80,179,465 (GRCm39) T164S probably benign Het
Ankar C T 1: 72,682,195 (GRCm39) A1239T unknown Het
Aox4 A T 1: 58,303,537 (GRCm39) S1192C probably damaging Het
Atl2 T C 17: 80,159,982 (GRCm39) D68G probably damaging Het
Btnl4 T C 17: 34,691,919 (GRCm39) I228V probably benign Het
Catsper4 T C 4: 133,942,460 (GRCm39) T231A probably benign Het
Ccl12 A T 11: 81,993,523 (GRCm39) T54S probably damaging Het
Cntn1 T C 15: 92,140,980 (GRCm39) probably null Het
Cog5 T A 12: 31,944,198 (GRCm39) D694E probably damaging Het
Crot T C 5: 9,023,635 (GRCm39) T418A probably benign Het
Cubn G A 2: 13,323,089 (GRCm39) P2826L probably damaging Het
Dnah17 A G 11: 117,981,598 (GRCm39) F1698L possibly damaging Het
Dock8 T A 19: 25,124,742 (GRCm39) D1019E possibly damaging Het
Eps15 A G 4: 109,166,361 (GRCm39) N85D probably damaging Het
Exoc1 T C 5: 76,706,889 (GRCm39) S457P probably damaging Het
Ext1 G A 15: 52,965,088 (GRCm39) T426I probably damaging Het
Fat1 T C 8: 45,405,489 (GRCm39) S747P possibly damaging Het
Gas7 A G 11: 67,574,213 (GRCm39) D396G probably damaging Het
Gm5114 G T 7: 39,057,580 (GRCm39) R680S probably benign Het
Gpcpd1 A T 2: 132,395,994 (GRCm39) L94M possibly damaging Het
Gse1 C A 8: 120,956,221 (GRCm39) probably benign Het
Hmgb1 T C 5: 148,987,471 (GRCm39) E26G probably benign Het
Incenp C T 19: 9,852,496 (GRCm39) R714Q unknown Het
Krt73 T C 15: 101,704,833 (GRCm39) E351G probably damaging Het
Ksr1 A G 11: 78,938,121 (GRCm39) probably null Het
Lpin2 T G 17: 71,522,145 (GRCm39) S60A probably damaging Het
Lrrc71 T C 3: 87,649,927 (GRCm39) probably null Het
Mafb A G 2: 160,207,939 (GRCm39) S220P possibly damaging Het
Maml3 TCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC TCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGTTGCTGCTGCTGC 3: 51,605,000 (GRCm39) Het
Mcmbp T C 7: 128,326,833 (GRCm39) probably null Het
Or1e30 A T 11: 73,677,926 (GRCm39) H54L possibly damaging Het
Or4s2 A G 2: 88,473,941 (GRCm39) T277A probably damaging Het
Paqr9 T C 9: 95,442,096 (GRCm39) S29P probably benign Het
Parm1 A G 5: 91,742,069 (GRCm39) T146A possibly damaging Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pigv A T 4: 133,392,792 (GRCm39) F126Y probably damaging Het
Pitx2 T C 3: 129,012,257 (GRCm39) M222T probably damaging Het
Plekhg6 T C 6: 125,355,693 (GRCm39) N37S probably benign Het
Pramel25 T C 4: 143,520,103 (GRCm39) C116R probably damaging Het
Psme4 A T 11: 30,784,307 (GRCm39) K961* probably null Het
Rbpj T C 5: 53,810,493 (GRCm39) W392R probably damaging Het
Reg3a T A 6: 78,358,038 (GRCm39) probably null Het
Rfc3 C T 5: 151,571,749 (GRCm39) S85N probably benign Het
Rtn3 T C 19: 7,435,696 (GRCm39) T80A probably benign Het
Sash1 T C 10: 8,659,985 (GRCm39) T195A probably damaging Het
Ska1 A G 18: 74,339,910 (GRCm39) V12A probably benign Het
Slc25a1 A G 16: 17,745,294 (GRCm39) V80A probably benign Het
Slc26a5 A T 5: 22,039,342 (GRCm39) V217D probably damaging Het
Slc46a1 A G 11: 78,357,805 (GRCm39) D286G probably benign Het
Spata2l A T 8: 123,962,297 (GRCm39) L88Q probably damaging Het
Sptbn1 T G 11: 30,088,634 (GRCm39) Q876P probably benign Het
Tenm2 T A 11: 35,914,407 (GRCm39) I2377F possibly damaging Het
Thbs4 A T 13: 92,899,377 (GRCm39) D539E probably damaging Het
Tmem154 T A 3: 84,599,813 (GRCm39) C162S possibly damaging Het
Tpcn1 T C 5: 120,682,502 (GRCm39) E502G probably benign Het
Traf7 G A 17: 24,731,266 (GRCm39) R257C probably benign Het
Tsc22d2 T C 3: 58,323,629 (GRCm39) Y174H probably damaging Het
Usp8 A G 2: 126,594,230 (GRCm39) E802G probably damaging Het
Vmn1r5 T C 6: 56,963,042 (GRCm39) V239A possibly damaging Het
Vmn2r99 T A 17: 19,600,457 (GRCm39) S494T possibly damaging Het
Zbtb38 A G 9: 96,568,517 (GRCm39) F856L probably damaging Het
Other mutations in Crat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01294:Crat APN 2 30,295,199 (GRCm39) missense probably damaging 0.99
IGL01357:Crat APN 2 30,297,736 (GRCm39) missense probably damaging 1.00
IGL01538:Crat APN 2 30,299,978 (GRCm39) missense probably damaging 1.00
IGL01973:Crat APN 2 30,295,493 (GRCm39) missense probably damaging 0.98
IGL02228:Crat APN 2 30,303,194 (GRCm39) missense probably damaging 1.00
IGL02408:Crat APN 2 30,297,146 (GRCm39) missense probably damaging 1.00
IGL02569:Crat APN 2 30,294,542 (GRCm39) missense probably damaging 0.99
IGL02637:Crat APN 2 30,296,401 (GRCm39) missense probably benign 0.06
IGL02983:Crat APN 2 30,294,538 (GRCm39) critical splice donor site probably null
IGL03395:Crat APN 2 30,294,978 (GRCm39) missense probably benign 0.11
Charlie UTSW 2 30,293,553 (GRCm39) missense probably damaging 1.00
demo UTSW 2 30,292,703 (GRCm39) missense probably damaging 1.00
veruca UTSW 2 30,293,640 (GRCm39) unclassified probably benign
R0136:Crat UTSW 2 30,297,042 (GRCm39) missense probably benign
R0389:Crat UTSW 2 30,293,640 (GRCm39) unclassified probably benign
R0443:Crat UTSW 2 30,293,640 (GRCm39) unclassified probably benign
R0619:Crat UTSW 2 30,299,996 (GRCm39) missense probably benign 0.14
R1938:Crat UTSW 2 30,303,073 (GRCm39) missense probably benign
R1990:Crat UTSW 2 30,295,060 (GRCm39) missense possibly damaging 0.93
R2113:Crat UTSW 2 30,292,654 (GRCm39) missense probably benign 0.00
R2655:Crat UTSW 2 30,292,703 (GRCm39) missense probably damaging 1.00
R3150:Crat UTSW 2 30,303,871 (GRCm39) critical splice donor site probably null
R4231:Crat UTSW 2 30,303,023 (GRCm39) missense possibly damaging 0.95
R4553:Crat UTSW 2 30,298,229 (GRCm39) missense probably benign 0.00
R4592:Crat UTSW 2 30,305,378 (GRCm39) utr 5 prime probably benign
R4718:Crat UTSW 2 30,298,176 (GRCm39) nonsense probably null
R4808:Crat UTSW 2 30,300,033 (GRCm39) missense probably benign 0.01
R4982:Crat UTSW 2 30,297,148 (GRCm39) critical splice acceptor site probably null
R5473:Crat UTSW 2 30,297,726 (GRCm39) missense probably damaging 1.00
R6049:Crat UTSW 2 30,293,553 (GRCm39) missense probably damaging 1.00
R6223:Crat UTSW 2 30,297,042 (GRCm39) missense probably benign 0.07
R6774:Crat UTSW 2 30,303,195 (GRCm39) missense probably damaging 1.00
R7376:Crat UTSW 2 30,296,477 (GRCm39) missense probably damaging 1.00
R7407:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7408:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7410:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7467:Crat UTSW 2 30,299,994 (GRCm39) missense probably damaging 1.00
R7484:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7514:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7582:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7584:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7585:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7620:Crat UTSW 2 30,298,090 (GRCm39) missense probably damaging 0.99
R7685:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R7686:Crat UTSW 2 30,294,577 (GRCm39) missense probably benign 0.01
R8332:Crat UTSW 2 30,295,084 (GRCm39) missense possibly damaging 0.71
R8554:Crat UTSW 2 30,300,035 (GRCm39) missense probably benign 0.36
R8766:Crat UTSW 2 30,297,075 (GRCm39) missense probably benign 0.38
R8994:Crat UTSW 2 30,297,887 (GRCm39) missense probably damaging 1.00
R9151:Crat UTSW 2 30,295,052 (GRCm39) missense probably damaging 1.00
R9176:Crat UTSW 2 30,297,892 (GRCm39) missense probably damaging 1.00
R9182:Crat UTSW 2 30,298,085 (GRCm39) missense probably damaging 0.99
R9293:Crat UTSW 2 30,298,214 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTCTCCACCTGAGGTTCTC -3'
(R):5'- AGTGTCCGCAAACAGACTG -3'

Sequencing Primer
(F):5'- ACCTGAGGTTCTCTTAGCAATATGC -3'
(R):5'- CAGACTGGGACGATGTTAGCC -3'
Posted On 2018-10-18