Incidental Mutation 'R8554:Crat'
ID 660000
Institutional Source Beutler Lab
Gene Symbol Crat
Ensembl Gene ENSMUSG00000026853
Gene Name carnitine acetyltransferase
Synonyms CARAT
MMRRC Submission 068517-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R8554 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 30290483-30305825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30300035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 115 (V115A)
Ref Sequence ENSEMBL: ENSMUSP00000099919 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000129494] [ENSMUST00000132981] [ENSMUST00000134120] [ENSMUST00000142096] [ENSMUST00000156702]
AlphaFold P47934
Predicted Effect probably benign
Transcript: ENSMUST00000028207
AA Change: V115A

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: V115A

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 34 616 1.9e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102854
AA Change: V94A

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: V94A

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 13 595 1.8e-235 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102855
AA Change: V115A

PolyPhen 2 Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: V115A

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 35 615 2.4e-195 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129494
Predicted Effect probably benign
Transcript: ENSMUST00000132981
AA Change: V115A

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: V115A

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: ENSMUST00000155790
SMART Domains Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adtrp G A 13: 41,969,636 (GRCm39) T89I possibly damaging Het
Aopep T A 13: 63,444,711 (GRCm39) Y94N possibly damaging Het
Apc T C 18: 34,445,999 (GRCm39) V947A probably damaging Het
Apob A C 12: 8,037,830 (GRCm39) K334N probably damaging Het
Camk2d A T 3: 126,564,448 (GRCm39) Q119L possibly damaging Het
Ccdc60 A T 5: 116,328,171 (GRCm39) F98I probably damaging Het
Cd47 A G 16: 49,688,304 (GRCm39) T22A probably benign Het
Csmd3 T C 15: 47,507,538 (GRCm39) M2992V probably benign Het
Dsg4 T A 18: 20,586,100 (GRCm39) N263K probably damaging Het
Eln A C 5: 134,738,964 (GRCm39) probably benign Het
Ep300 A G 15: 81,523,228 (GRCm39) E1284G unknown Het
Fam193a T A 5: 34,633,115 (GRCm39) M122K probably benign Het
Fcgr1 A T 3: 96,199,788 (GRCm39) W40R probably damaging Het
Gm3486 T A 14: 41,209,119 (GRCm39) Q84L probably damaging Het
Golga2 G A 2: 32,183,357 (GRCm39) D80N probably damaging Het
Isg20 T C 7: 78,566,425 (GRCm39) Y125H probably benign Het
Kdf1 A G 4: 133,256,188 (GRCm39) I302V probably damaging Het
Kics2 T A 10: 121,575,960 (GRCm39) I27N probably benign Het
Krt33a T A 11: 99,903,209 (GRCm39) T278S possibly damaging Het
Lrp1b T A 2: 41,234,495 (GRCm39) Q1038L probably benign Het
Marchf6 G A 15: 31,482,976 (GRCm39) H476Y probably damaging Het
Myom1 A G 17: 71,343,448 (GRCm39) E215G possibly damaging Het
Or2aa1 A T 11: 59,480,312 (GRCm39) L201Q possibly damaging Het
Or2h15 T A 17: 38,441,489 (GRCm39) Q198L probably damaging Het
Or4c122 T C 2: 89,079,595 (GRCm39) T148A possibly damaging Het
Pate11 A G 9: 36,387,788 (GRCm39) I25V probably benign Het
Pdlim2 T A 14: 70,408,698 (GRCm39) T173S probably benign Het
Pitpnb T C 5: 111,494,372 (GRCm39) M74T probably benign Het
Pou2f2 C A 7: 24,814,981 (GRCm39) probably benign Het
Rab35 A C 5: 115,783,690 (GRCm39) probably null Het
Rasef A T 4: 73,645,844 (GRCm39) D508E probably benign Het
Rev3l T C 10: 39,682,838 (GRCm39) S319P probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rgl3 A G 9: 21,900,159 (GRCm39) S44P probably benign Het
Rnf214 C A 9: 45,778,797 (GRCm39) probably null Het
Rpsa T C 9: 119,958,317 (GRCm39) V76A possibly damaging Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Senp7 T C 16: 55,978,973 (GRCm39) V529A probably benign Het
Siglecg C T 7: 43,058,320 (GRCm39) S69L probably benign Het
Sos1 G T 17: 80,705,842 (GRCm39) T1243K probably damaging Het
Tent5a T C 9: 85,208,784 (GRCm39) D13G possibly damaging Het
Tlcd3a A G 11: 76,096,244 (GRCm39) H124R probably damaging Het
Tmc2 A G 2: 130,106,084 (GRCm39) T872A probably benign Het
Tnfrsf8 A C 4: 145,023,511 (GRCm39) C107W probably damaging Het
Tnn T C 1: 159,937,986 (GRCm39) Y913C probably damaging Het
Ttn T C 2: 76,568,376 (GRCm39) T19179A probably damaging Het
Usp42 T A 5: 143,706,137 (GRCm39) K294N probably damaging Het
Vmn1r123 T A 7: 20,896,971 (GRCm39) C288S probably benign Het
Vmn1r29 T A 6: 58,285,191 (GRCm39) *304K probably null Het
Vmn2r1 T C 3: 63,997,334 (GRCm39) I330T probably damaging Het
Vmn2r16 A G 5: 109,511,997 (GRCm39) I735V probably benign Het
Vmn2r65 T C 7: 84,595,960 (GRCm39) I241M probably benign 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
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
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'- GCCTTTCCAGTTTCCTAGGG -3'
(R):5'- CCTGGCCAAGTTTGCTTATAGTTG -3'

Sequencing Primer
(F):5'- CCAGTTTCCTAGGGTGCAG -3'
(R):5'- TCTCTAGGCAGTACCAGTCG -3'
Posted On 2021-01-18