Mutagenetix > Incidental Mutation

Incidental Mutation 'R4592:Crat'

342877

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

MMRRC Submission

041808-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.167) question?

Stock #

R4592 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

30400471-30415813 bp(-) (GRCm38)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 30415366 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	34	616	1.9e-235	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042055

SMART Domains

Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	13	595	1.8e-235	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102855

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	35	615	2.4e-195	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113601

SMART Domains

Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000129494

Predicted Effect

probably benign
Transcript: ENSMUST00000132981

SMART Domains

Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	34	76	2.3e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134920

Predicted Effect

probably benign
Transcript: ENSMUST00000142096

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159932

Predicted Effect

probably benign
Transcript: ENSMUST00000152165

Predicted Effect

probably benign
Transcript: ENSMUST00000156702

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (64/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001P01Rik	A	G	11: 97,771,615	S144P	probably damaging	Het
4933430I17Rik	T	A	4: 62,538,927	V161E	possibly damaging	Het
Arhgap40	T	C	2: 158,546,709	V521A	possibly damaging	Het
Atrn	T	C	2: 130,999,130		probably benign	Het
Casp12	T	C	9: 5,352,923		probably benign	Het
Ccdc189	C	T	7: 127,585,491	R172H	probably benign	Het
Cenpf	G	A	1: 189,679,033	T318M	probably damaging	Het
Clcn2	T	C	16: 20,709,142	K525E	probably damaging	Het
Cntln	A	G	4: 84,971,182	T301A	probably benign	Het
Cul5	A	G	9: 53,633,727		probably benign	Het
Cxcl14	A	T	13: 56,295,895	I34N	probably damaging	Het
Cyp2b19	A	G	7: 26,771,394	I487V	probably benign	Het
Cyp4a10	T	A	4: 115,529,493	F446I	probably damaging	Het
D430041D05Rik	T	A	2: 104,233,479	M659L	possibly damaging	Het
Dclk3	T	C	9: 111,467,895	F169S	probably damaging	Het
Ddx52	T	C	11: 83,957,480	I532T	probably damaging	Het
Dnm1	T	C	2: 32,336,011	D352G	probably damaging	Het
Eif4g2	T	C	7: 111,078,302	E174G	probably damaging	Het
Enpp6	G	T	8: 47,093,032	V386L	probably damaging	Het
Eps15l1	T	C	8: 72,341,394	D904G	probably damaging	Het
Esrrb	A	G	12: 86,518,830	Y356C	probably damaging	Het
Flt3	A	T	5: 147,354,699	S619T	possibly damaging	Het
Fndc7	A	T	3: 108,858,902	C716S	probably damaging	Het
Gm10125	T	C	18: 5,525,375		noncoding transcript	Het
Gm26996	T	A	6: 130,579,485		noncoding transcript	Het
Grik2	A	T	10: 49,422,615	F50I	possibly damaging	Het
Guf1	T	C	5: 69,566,443	V367A	possibly damaging	Het
Hspg2	C	T	4: 137,518,940	R1010C	probably damaging	Het
Ifnar2	T	C	16: 91,391,796	V55A	probably benign	Het
Impg1	T	A	9: 80,440,854	I33F	probably benign	Het
Ltbp4	A	C	7: 27,325,183	V674G	probably damaging	Het
Mroh2b	T	A	15: 4,918,290	L529H	probably damaging	Het
Negr1	T	C	3: 157,208,386		probably benign	Het
Neurog3	A	G	10: 62,133,820	T25A	probably damaging	Het
Olfr1241	T	A	2: 89,482,756	K126N	probably damaging	Het
Olfr1420	T	C	19: 11,896,762	V247A	probably benign	Het
Olfr181	T	C	16: 58,926,092	T160A	probably benign	Het
Olfr555	A	C	7: 102,659,478	Y219S	probably damaging	Het
Pax8	T	A	2: 24,443,189		probably benign	Het
Pcsk6	A	C	7: 65,931,732	I254L	possibly damaging	Het
Pde3a	A	G	6: 141,459,216	K389R	probably benign	Het
Rab3gap1	C	A	1: 127,925,259		probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rptor	A	G	11: 119,798,840	D321G	probably null	Het
Sall2	C	A	14: 52,313,803	R643L	probably damaging	Het
Sdccag3	C	A	2: 26,388,897		probably benign	Het
Skp1a	T	C	11: 52,243,619	I59T	possibly damaging	Het
Slc23a3	T	G	1: 75,128,556	N456T	probably damaging	Het
Slc4a7	G	A	14: 14,778,850	G920S	probably damaging	Het
Smarcd3	T	C	5: 24,592,804	I467V	probably benign	Het
Spata31d1c	C	T	13: 65,036,060	A472V	probably damaging	Het
Srsf6	T	C	2: 162,931,723	I18T	probably damaging	Het
Stom	C	T	2: 35,323,746	G80D	probably damaging	Het
Svep1	A	T	4: 58,084,028	Y1915N	possibly damaging	Het
Tmf1	C	T	6: 97,173,400	V449I	probably benign	Het
Triobp	C	T	15: 78,967,095	A483V	probably benign	Het
Vdac1	G	A	11: 52,374,972		probably null	Het
Vmn2r75	T	G	7: 86,166,286	E123D	probably benign	Het
Vmn2r79	T	A	7: 87,004,111	V528D	possibly damaging	Het
Zdbf2	T	G	1: 63,306,591	N1376K	possibly damaging	Het

Other mutations in Crat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Crat	APN	2	30405187	missense	probably damaging	0.99
IGL01357:Crat	APN	2	30407724	missense	probably damaging	1.00
IGL01538:Crat	APN	2	30409966	missense	probably damaging	1.00
IGL01973:Crat	APN	2	30405481	missense	probably damaging	0.98
IGL02228:Crat	APN	2	30413182	missense	probably damaging	1.00
IGL02408:Crat	APN	2	30407134	missense	probably damaging	1.00
IGL02569:Crat	APN	2	30404530	missense	probably damaging	0.99
IGL02637:Crat	APN	2	30406389	missense	probably benign	0.06
IGL02983:Crat	APN	2	30404526	critical splice donor site	probably null
IGL03395:Crat	APN	2	30404966	missense	probably benign	0.11
Charlie	UTSW	2	30403541	missense	probably damaging	1.00
veruca	UTSW	2	30403628	unclassified	probably benign
R0136:Crat	UTSW	2	30407030	missense	probably benign
R0389:Crat	UTSW	2	30403628	unclassified	probably benign
R0443:Crat	UTSW	2	30403628	unclassified	probably benign
R0619:Crat	UTSW	2	30409984	missense	probably benign	0.14
R1938:Crat	UTSW	2	30413061	missense	probably benign
R1990:Crat	UTSW	2	30405048	missense	possibly damaging	0.93
R2113:Crat	UTSW	2	30402642	missense	probably benign	0.00
R2655:Crat	UTSW	2	30402691	missense	probably damaging	1.00
R3150:Crat	UTSW	2	30413859	critical splice donor site	probably null
R4231:Crat	UTSW	2	30413011	missense	possibly damaging	0.95
R4553:Crat	UTSW	2	30408217	missense	probably benign	0.00
R4718:Crat	UTSW	2	30408164	nonsense	probably null
R4808:Crat	UTSW	2	30410021	missense	probably benign	0.01
R4982:Crat	UTSW	2	30407136	critical splice acceptor site	probably null
R5473:Crat	UTSW	2	30407714	missense	probably damaging	1.00
R6049:Crat	UTSW	2	30403541	missense	probably damaging	1.00
R6223:Crat	UTSW	2	30407030	missense	probably benign	0.07
R6774:Crat	UTSW	2	30413183	missense	probably damaging	1.00
R6885:Crat	UTSW	2	30415196	splice site	probably benign
R7376:Crat	UTSW	2	30406465	missense	probably damaging	1.00
R7407:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7408:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7410:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7467:Crat	UTSW	2	30409982	missense	probably damaging	1.00
R7484:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7514:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7582:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7584:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7585:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7620:Crat	UTSW	2	30408078	missense	probably damaging	0.99
R7685:Crat	UTSW	2	30404565	missense	probably benign	0.01
R7686:Crat	UTSW	2	30404565	missense	probably benign	0.01
R8332:Crat	UTSW	2	30405072	missense	possibly damaging	0.71
R8554:Crat	UTSW	2	30410023	missense	probably benign	0.36
R8766:Crat	UTSW	2	30407063	missense	probably benign	0.38
R8994:Crat	UTSW	2	30407875	missense	probably damaging	1.00
R9151:Crat	UTSW	2	30405040	missense	probably damaging	1.00
R9176:Crat	UTSW	2	30407880	missense	probably damaging	1.00
R9182:Crat	UTSW	2	30408073	missense	probably damaging	0.99
R9293:Crat	UTSW	2	30408202	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTTCTTCTGGGATCGAACC -3'
(R):5'- TAACAGCTGAGCTAGAGGTCCG -3'

Sequencing Primer
(F):5'- GAACCCACCCCTTACCTGGTC -3'
(R):5'- TGAGCTAGAGGTCCGTCTCC -3'

Posted On

2015-09-24