Mutagenetix > Incidental Mutation

Incidental Mutation 'R6223:Crat'

504119

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

MMRRC Submission

044354-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.218) question?

Stock #

R6223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30400471-30415813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30407030 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 304 (V304I)

Ref Sequence

ENSEMBL: ENSMUSP00000099919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000132981] [ENSMUST00000154595] [ENSMUST00000156702]

AlphaFold

P47934

Predicted Effect

probably benign
Transcript: ENSMUST00000028207
AA Change: V304I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: V304I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102854
AA Change: V283I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: V283I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102855
AA Change: V304I

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: V304I

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

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

noncoding transcript
Transcript: ENSMUST00000146603

Predicted Effect

probably benign
Transcript: ENSMUST00000154595

SMART Domains

Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	1	132	1.4e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155790

SMART Domains

Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853

Domain	Start	End	E-Value	Type
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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,427,953	R8S	probably benign	Het
Abca8b	A	G	11: 109,977,846	V164A	probably benign	Het
Acadm	C	A	3: 153,938,549		probably null	Het
Ap3b2	G	A	7: 81,473,462	R435*	probably null	Het
Art2b	A	G	7: 101,579,951	F247S	possibly damaging	Het
C1rb	T	A	6: 124,574,580	D216E	probably benign	Het
Casz1	C	A	4: 148,933,383	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cdc25a	C	A	9: 109,889,774	P409T	possibly damaging	Het
Cidea	A	C	18: 67,358,739	K23T	possibly damaging	Het
Clspn	T	A	4: 126,586,168	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,395,187	D385V	probably damaging	Het
Cyp2d26	A	T	15: 82,791,717	W265R	probably benign	Het
Dock8	A	T	19: 25,161,052	Y1247F	probably benign	Het
Eed	A	G	7: 89,956,287	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,015,110	F73L	probably benign	Het
Fbn1	C	T	2: 125,412,671	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,429,605	F684L	probably damaging	Het
Glrp1	G	A	1: 88,503,442	Q69*	probably null	Het
Gm29797	T	C	2: 181,659,057	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,676,625	R543K	probably benign	Het
Ifih1	T	C	2: 62,598,259	I891V	probably benign	Het
Ifnar2	C	T	16: 91,387,988	T89M	probably damaging	Het
Kat6a	C	A	8: 22,940,426	N1932K	unknown	Het
Mgat5	A	T	1: 127,382,979	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,871,702		probably null	Het
Myh3	G	T	11: 67,098,017	V1499L	probably benign	Het
Ncan	A	C	8: 70,109,954	D551E	probably benign	Het
Nol11	G	T	11: 107,171,616	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,736,460	R202W	probably damaging	Het
Olfr1362	G	A	13: 21,611,366	T201I	probably benign	Het
Olfr1509	A	G	14: 52,450,679	R89G	probably benign	Het
Pcdh9	T	C	14: 93,015,733	K1131E	probably benign	Het
Pcolce	A	G	5: 137,605,299	M424T	probably damaging	Het
Pi16	C	A	17: 29,327,439	S397*	probably null	Het
Pi4ka	A	T	16: 17,357,571	Y464*	probably null	Het
Pik3c2b	T	A	1: 133,070,357	L324M	probably damaging	Het
Prdm2	T	C	4: 143,142,207	N179S	probably benign	Het
Prss56	C	T	1: 87,185,412	P183S	probably benign	Het
Prx	T	G	7: 27,516,836	M393R	probably damaging	Het
Qpctl	T	C	7: 19,143,209	D328G	probably damaging	Het
Qser1	A	G	2: 104,787,648	S940P	probably benign	Het
Rchy1	G	A	5: 91,957,967	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,823,948	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,379,026	V388A	probably benign	Het
Ssu2	G	T	6: 112,376,448	C238*	probably null	Het
Stub1	C	T	17: 25,832,813	G14D	probably damaging	Het
Tab1	T	A	15: 80,148,263	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,865,850	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525	R134G	probably damaging	Het
Tg	T	A	15: 66,707,922	N1525K	probably benign	Het
Tll2	G	A	19: 41,135,952	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,500,196	M1V	probably null	Het
Ttc7b	A	G	12: 100,387,109		probably null	Het
Ubb	A	G	11: 62,552,525	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,787,504	Y796*	probably null	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,483,302	V329E	probably benign	Het
Wdr60	T	C	12: 116,257,458	D11G	possibly damaging	Het
Zfp651	G	A	9: 121,763,787	R391Q	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
demo	UTSW	2	30402691	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
R4592:Crat	UTSW	2	30415366	utr 5 prime	probably benign
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
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'- TTTACAAACAGGAGGCTGGG -3'
(R):5'- TTCTGCACATTCCCTGAAGG -3'

Sequencing Primer
(F):5'- GGACGCTGGGCCTAAGTTG -3'
(R):5'- TTCCCTGAAGGCCCCAAAGATG -3'

Posted On

2018-02-28