Incidental Mutation 'R7410:Crat'
ID 574975
Institutional Source Beutler Lab
Gene Symbol Crat
Ensembl Gene ENSMUSG00000026853
Gene Name carnitine acetyltransferase
Synonyms CARAT
MMRRC Submission 045491-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R7410 (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: 99.6%
  • 20x: 98.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210017I01Rik A G 3: 92,512,551 (GRCm39) S3P unknown Het
Adgrv1 A T 13: 81,711,738 (GRCm39) D1079E probably benign Het
Agbl5 A T 5: 31,048,032 (GRCm39) Y102F possibly damaging Het
Ankfy1 T C 11: 72,652,330 (GRCm39) L1094S probably damaging Het
Ankrd42 A T 7: 92,259,762 (GRCm39) V337E possibly damaging Het
Axl A G 7: 25,458,208 (GRCm39) L849P probably benign Het
Bmpr2 T C 1: 59,907,652 (GRCm39) I915T probably benign Het
Cables1 T A 18: 12,074,282 (GRCm39) F494L probably benign Het
Cacna1e A C 1: 154,347,980 (GRCm39) V927G probably benign Het
Cavin1 A T 11: 100,849,670 (GRCm39) V320E probably damaging Het
Cemip T G 7: 83,602,042 (GRCm39) S916R probably damaging Het
Cep57 G A 9: 13,729,980 (GRCm39) probably benign Het
Ces1d T C 8: 93,919,433 (GRCm39) N120D probably damaging Het
Cfap44 A T 16: 44,288,776 (GRCm39) S1509C probably damaging Het
Chga A G 12: 102,528,866 (GRCm39) D281G probably benign Het
Clstn2 A G 9: 97,423,920 (GRCm39) F282L probably benign Het
Cnot1 A T 8: 96,459,787 (GRCm39) V1855E possibly damaging Het
Cnr1 T A 4: 33,944,119 (GRCm39) V169D probably damaging Het
Cpd T A 11: 76,673,134 (GRCm39) H1337L probably damaging Het
Crabp2 T A 3: 87,859,585 (GRCm39) D78E probably damaging Het
Cyp2ab1 G A 16: 20,135,475 (GRCm39) A9V probably benign Het
Cyp3a41b T C 5: 145,514,967 (GRCm39) D86G probably damaging Het
Dner T A 1: 84,563,332 (GRCm39) D96V probably damaging Het
Duox1 C A 2: 122,176,874 (GRCm39) T1465N probably damaging Het
Ehd3 T A 17: 74,112,428 (GRCm39) V64E probably benign Het
Ehmt1 A G 2: 24,738,080 (GRCm39) V508A probably benign Het
Ephb3 G A 16: 21,040,158 (GRCm39) V761I possibly damaging Het
Fam161b T C 12: 84,404,575 (GRCm39) Q35R probably benign Het
Fam186a T A 15: 99,844,826 (GRCm39) K473* probably null Het
Fam227b A T 2: 125,960,983 (GRCm39) D215E probably damaging Het
Fkbp15 C A 4: 62,258,536 (GRCm39) D144Y probably damaging Het
Galt T C 4: 41,757,707 (GRCm39) I259T possibly damaging Het
Gbp11 G A 5: 105,491,774 (GRCm39) P8S probably damaging Het
Gfap A T 11: 102,783,963 (GRCm39) M339K probably damaging Het
Gm14443 C T 2: 175,011,069 (GRCm39) R459Q possibly damaging Het
Grip1 A G 10: 119,855,925 (GRCm39) N632S probably benign Het
H4c18 G A 13: 22,016,211 (GRCm39) R40W probably damaging Het
Hcar1 T G 5: 124,017,161 (GRCm39) I177L possibly damaging Het
Ighv1-37 A G 12: 114,860,099 (GRCm39) V37A probably damaging Het
Ilf3 T A 9: 21,311,100 (GRCm39) F657L unknown Het
Ints2 T G 11: 86,124,052 (GRCm39) T579P probably benign Het
Iqgap1 G T 7: 80,372,778 (GRCm39) Y1520* probably null Het
Kdm4a T C 4: 118,001,115 (GRCm39) H884R possibly damaging Het
Krtap19-1 A T 16: 88,666,132 (GRCm39) Y52N unknown Het
Lama5 A T 2: 179,844,183 (GRCm39) probably null Het
Lrrc72 T C 12: 36,272,803 (GRCm39) N89D probably damaging Het
Med13l A G 5: 118,698,897 (GRCm39) D16G possibly damaging Het
Mefv A G 16: 3,533,545 (GRCm39) L242P probably damaging Het
Mob3c T C 4: 115,688,784 (GRCm39) Y106H probably damaging Het
Nlrp1a A G 11: 71,014,683 (GRCm39) I189T probably damaging Het
Nudt7 T C 8: 114,860,559 (GRCm39) probably benign Het
Or13p10 T C 4: 118,523,629 (GRCm39) L305P probably benign Het
Or4f7 T A 2: 111,644,271 (GRCm39) I267L probably benign Het
Pappa A G 4: 65,253,956 (GRCm39) T1537A probably damaging Het
Pik3r4 T A 9: 105,527,790 (GRCm39) V381E probably damaging Het
Pkd1 T A 17: 24,794,855 (GRCm39) Y2181N probably damaging Het
Pmel G T 10: 128,552,353 (GRCm39) V396F probably benign Het
Prdm9 A G 17: 15,765,259 (GRCm39) I507T possibly damaging Het
Psme4 C T 11: 30,765,279 (GRCm39) Q549* probably null Het
Ptprg T A 14: 11,962,657 (GRCm38) W152R probably damaging Het
Ptprm A C 17: 67,000,561 (GRCm39) V1141G probably damaging Het
Rapgef5 G A 12: 117,685,063 (GRCm39) V505M probably damaging Het
Rnf213 T A 11: 119,325,877 (GRCm39) M1558K Het
Slc35a1 A G 4: 34,675,034 (GRCm39) V168A probably benign Het
Srebf1 T C 11: 60,096,693 (GRCm39) T347A probably benign Het
Stard9 T A 2: 120,531,978 (GRCm39) V2745D probably benign Het
Taar7e A T 10: 23,914,424 (GRCm39) T305S probably benign Het
Tie1 T C 4: 118,337,074 (GRCm39) S551G probably benign Het
Tmc5 T A 7: 118,222,820 (GRCm39) Y173* probably null Het
Tns2 T A 15: 102,018,961 (GRCm39) V384D probably damaging Het
Tubgcp4 T A 2: 121,014,890 (GRCm39) Y267N probably damaging Het
Vmn1r53 A G 6: 90,200,700 (GRCm39) V208A probably damaging Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wdfy4 T C 14: 32,696,191 (GRCm39) D2784G Het
Zfp712 A C 13: 67,189,400 (GRCm39) S376A probably benign Het
Znrf3 C T 11: 5,238,955 (GRCm39) C232Y unknown 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
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
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'- TAGGATGACCCTAGTTTTACCAAC -3'
(R):5'- TCCGTCCACTCATGCAAGTG -3'

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