Incidental Mutation 'IGL02228:Crat'
ID 285402
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crat
Ensembl Gene ENSMUSG00000026853
Gene Name carnitine acetyltransferase
Synonyms CARAT
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # IGL02228
Quality Score
Status
Chromosome 2
Chromosomal Location 30290483-30305825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30303194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 31 (H31R)
Ref Sequence ENSEMBL: ENSMUSP00000117593 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000042055] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000129494] [ENSMUST00000134120] [ENSMUST00000132981] [ENSMUST00000156702] [ENSMUST00000152165] [ENSMUST00000142096]
AlphaFold P47934
Predicted Effect probably benign
Transcript: ENSMUST00000028207
AA Change: H31R

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: H31R

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 possibly damaging
Transcript: ENSMUST00000102854
AA Change: H10R

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: H10R

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 13 595 1.8e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102855
AA Change: H31R

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: H31R

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 noncoding transcript
Transcript: ENSMUST00000125743
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128593
Predicted Effect unknown
Transcript: ENSMUST00000129494
AA Change: H55R
Predicted Effect probably damaging
Transcript: ENSMUST00000134120
AA Change: H31R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000132981
AA Change: H31R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: H31R

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 76 2.3e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134920
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159932
Predicted Effect probably benign
Transcript: ENSMUST00000156702
Predicted Effect probably benign
Transcript: ENSMUST00000152165
Predicted Effect probably benign
Transcript: ENSMUST00000142096
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,063,738 (GRCm39) V282A probably benign Het
Acsm5 A G 7: 119,131,089 (GRCm39) D169G probably damaging Het
Adam8 C T 7: 139,568,719 (GRCm39) probably null Het
Agpat1 T C 17: 34,829,536 (GRCm39) F37L possibly damaging Het
Asah2 A T 19: 31,994,114 (GRCm39) D410E probably benign Het
Atg2a T A 19: 6,296,830 (GRCm39) V378D probably benign Het
Atp1a4 T C 1: 172,082,452 (GRCm39) Y130C possibly damaging Het
Bnc2 T C 4: 84,211,313 (GRCm39) H419R possibly damaging Het
Capza3 A G 6: 139,987,641 (GRCm39) D80G probably benign Het
Col6a4 C T 9: 105,945,277 (GRCm39) D946N probably benign Het
Dsc2 A G 18: 20,176,790 (GRCm39) V419A probably damaging Het
Ebf1 T C 11: 44,863,739 (GRCm39) V363A probably damaging Het
Lcp2 T C 11: 33,997,424 (GRCm39) F24S probably damaging Het
Lgmn G A 12: 102,361,973 (GRCm39) T376I probably benign Het
Lrrc8d C T 5: 105,959,730 (GRCm39) L47F probably benign Het
Mier1 T A 4: 102,988,259 (GRCm39) M44K possibly damaging Het
Ogfod1 C A 8: 94,789,615 (GRCm39) Q439K probably benign Het
Or6aa1 A C 7: 86,044,286 (GRCm39) I140S possibly damaging Het
Pcgf6 A C 19: 47,036,421 (GRCm39) F216C probably damaging Het
Pcnt C T 10: 76,225,308 (GRCm39) R1732K probably benign Het
Pramel17 T C 4: 101,694,055 (GRCm39) Y276C probably benign Het
Pramel31 A G 4: 144,089,231 (GRCm39) K183R probably damaging Het
Rbbp4 A T 4: 129,211,543 (GRCm39) H370Q probably damaging Het
Reln A G 5: 22,109,729 (GRCm39) V3127A probably damaging Het
Rttn T A 18: 89,060,355 (GRCm39) V1019E probably damaging Het
Serpina9 C T 12: 103,974,859 (GRCm39) R98Q probably benign Het
Slc16a7 C A 10: 125,066,667 (GRCm39) G324V probably damaging Het
Slc22a3 A G 17: 12,678,697 (GRCm39) L209P probably damaging Het
Tet1 T A 10: 62,649,513 (GRCm39) T1695S probably damaging Het
Tulp3 G A 6: 128,311,448 (GRCm39) T74M probably damaging Het
Ube3a A G 7: 58,938,144 (GRCm39) probably benign Het
Ufl1 A T 4: 25,281,686 (GRCm39) S23T probably benign Het
Unc80 A G 1: 66,647,587 (GRCm39) E1509G possibly damaging Het
Wnk2 A T 13: 49,210,416 (GRCm39) I1801N 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
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
R6885:Crat UTSW 2 30,305,208 (GRCm39) splice site probably benign
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
Posted On 2015-04-16