Incidental Mutation 'R7407:Crat'
ID 574774
Institutional Source Beutler Lab
Gene Symbol Crat
Ensembl Gene ENSMUSG00000026853
Gene Name carnitine acetyltransferase
Synonyms CARAT
MMRRC Submission 045488-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R7407 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30290483-30305825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 30294577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 497 (R497Q)
Ref Sequence ENSEMBL: ENSMUSP00000028207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000028209] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000113612] [ENSMUST00000123202] [ENSMUST00000132981] [ENSMUST00000154595] [ENSMUST00000156702]
AlphaFold P47934
PDB Structure Crystal structure of Carnitine Acetyltransferase [X-RAY DIFFRACTION]
Carnitine Acetyltransferase in Complex with Carnitine [X-RAY DIFFRACTION]
Carnitine Acetyltransferase in complex with CoA [X-RAY DIFFRACTION]
Crystal structure of the M564G mutant of murine CrAT [X-RAY DIFFRACTION]
Crystal structure of the M564G mutant of murine carnitine acetyltransferase in complex with carnitine [X-RAY DIFFRACTION]
Crystal structure of the F565A mutant of murine carnitine acetyltransferase in complex with carnitine and CoA [X-RAY DIFFRACTION]
Crystal structure of murine carnitine acetyltransferase in complex with carnitine and acetyl-CoA [X-RAY DIFFRACTION]
Crystal structure of murine carnitine acetyltransferase in complex with carnitine and CoA [X-RAY DIFFRACTION]
Crystal structure of the S554A/M564G mutant of murine carnitine acetyltransferase in complex with hexanoylcarnitine and CoA [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000028207
AA Change: R497Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: R497Q

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 616 1.9e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028209
SMART Domains Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
acidPPc 59 180 1.31e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102854
AA Change: R476Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: R476Q

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 13 595 1.8e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102855
AA Change: R497Q

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: R497Q

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 35 615 2.4e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113612
SMART Domains Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
Pfam:PAP2 58 165 1.7e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123202
SMART Domains Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
Pfam:PAP2 1 90 8.1e-13 PFAM
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: ENSMUST00000137248
SMART Domains Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 31 53 N/A INTRINSIC
low complexity region 71 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154595
AA Change: R17Q

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
AA Change: R17Q

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 1 132 1.4e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155196
SMART Domains Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
low complexity region 69 88 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853
AA Change: R95Q

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 1 133 2.4e-51 PFAM
Pfam:Carn_acyltransf 128 190 8.9e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156702
Meta Mutation Damage Score 0.0672 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik A G 7: 50,249,626 (GRCm39) N220S probably damaging Het
Abcb8 T C 5: 24,605,674 (GRCm39) V186A probably benign Het
Actbl2 A T 13: 111,392,752 (GRCm39) E362D probably damaging Het
Adamts17 C A 7: 66,697,304 (GRCm39) Y28* probably null Het
Agtr1b T C 3: 20,369,895 (GRCm39) D237G possibly damaging Het
Amer2 A G 14: 60,616,291 (GRCm39) D162G probably damaging Het
Ankub1 T C 3: 57,572,624 (GRCm39) E366G probably benign Het
Ap5z1 A G 5: 142,452,330 (GRCm39) I88V probably benign Het
Ccdc186 T C 19: 56,801,817 (GRCm39) N100S probably benign Het
Cldn19 A G 4: 119,112,882 (GRCm39) D38G probably damaging Het
Deaf1 G A 7: 140,877,492 (GRCm39) A545V possibly damaging Het
Dicer1 G T 12: 104,688,610 (GRCm39) Y322* probably null Het
Dnajb7 G T 15: 81,291,827 (GRCm39) T170K possibly damaging Het
Flrt2 A T 12: 95,746,074 (GRCm39) E137D probably damaging Het
Galnt12 T C 4: 47,120,362 (GRCm39) F482L probably damaging Het
Gm32742 A G 9: 51,067,974 (GRCm39) V336A probably damaging Het
Gpatch8 G A 11: 102,370,656 (GRCm39) R961W unknown Het
Hcn4 A G 9: 58,766,653 (GRCm39) E738G unknown Het
Kdelr3 A G 15: 79,409,039 (GRCm39) Y76C probably damaging Het
Krt77 T C 15: 101,768,530 (GRCm39) S494G unknown Het
Letmd1 G T 15: 100,367,119 (GRCm39) A39S probably benign Het
Lrrc7 G A 3: 157,840,878 (GRCm39) R1387W probably damaging Het
Meltf T C 16: 31,713,553 (GRCm39) Y599H probably damaging Het
Mybpc1 T A 10: 88,385,209 (GRCm39) I477L probably damaging Het
Nf1 A G 11: 79,338,969 (GRCm39) D1174G probably damaging Het
Or2t6 T A 14: 14,175,402 (GRCm38) I227L probably benign Het
Or8b44 T A 9: 38,410,800 (GRCm39) Y278* probably null Het
Palld G T 8: 61,968,975 (GRCm39) S1283* probably null Het
Pcmtd2 T C 2: 181,488,398 (GRCm39) V183A possibly damaging Het
Pcsk5 T A 19: 17,652,880 (GRCm39) I269F probably damaging Het
Pkd1 T C 17: 24,813,568 (GRCm39) L4036P probably damaging Het
Pkhd1l1 A G 15: 44,458,407 (GRCm39) N4151S possibly damaging Het
Rcor3 C T 1: 191,785,972 (GRCm39) S422N probably benign Het
Rhag A G 17: 41,142,225 (GRCm39) I223V possibly damaging Het
Ssbp4 A G 8: 71,051,672 (GRCm39) Y231H probably damaging Het
Syce1l C T 8: 114,381,770 (GRCm39) Q237* probably null Het
Tenm4 T C 7: 96,423,194 (GRCm39) V663A possibly damaging Het
Timd6 A G 11: 46,468,217 (GRCm39) Y97C probably damaging Het
Trim6 T C 7: 103,875,108 (GRCm39) I115T probably damaging Het
Vinac1 A G 2: 128,880,729 (GRCm39) I399T Het
Vmn1r25 T A 6: 57,956,044 (GRCm39) T82S possibly damaging Het
Vmn2r28 A G 7: 5,484,308 (GRCm39) S631P probably damaging Het
Xpo1 T A 11: 23,235,823 (GRCm39) V637E probably damaging Het
Xpo6 A T 7: 125,770,224 (GRCm39) M62K probably damaging Het
Ypel5 A G 17: 73,153,374 (GRCm39) N26S possibly damaging Het
Zbtb24 C A 10: 41,340,775 (GRCm39) Q624K possibly damaging Het
Zfp629 T C 7: 127,209,415 (GRCm39) D798G probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H 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
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
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'- GGATGACCCTAGTTTTACCAACTTAC -3'
(R):5'- TCTCCGTCCACTCATGCAAG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTCATGCAAGTGAGTGCTAGGC -3'
Posted On 2019-10-07