Mutagenetix > Incidental Mutations

Incidental Mutation 'R4231:Crat'

320822

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

MMRRC Submission

041050-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R4231 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30400471-30415813 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30413011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 88 (E88G)

Ref Sequence

ENSEMBL: ENSMUSP00000099919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000042055] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000113601] [ENSMUST00000113603] [ENSMUST00000129494] [ENSMUST00000132981] [ENSMUST00000134120] [ENSMUST00000152165] [ENSMUST00000156702] [ENSMUST00000142096]

AlphaFold

P47934

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028207
AA Change: E88G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: E88G

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

possibly damaging
Transcript: ENSMUST00000102854
AA Change: E67G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: E67G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102855
AA Change: E88G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: E88G

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

possibly damaging
Transcript: ENSMUST00000132981
AA Change: E88G

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: E88G

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

noncoding transcript
Transcript: ENSMUST00000146822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159932

Predicted Effect

probably benign
Transcript: ENSMUST00000152165

Predicted Effect

probably benign
Transcript: ENSMUST00000156702

Predicted Effect

probably benign
Transcript: ENSMUST00000142096

Meta Mutation Damage Score

0.1673

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

99% (75/76)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 70,394,529	A53T	probably benign	Het
4932438A13Rik	C	T	3: 36,920,236	T663I	probably benign	Het
Ajuba	T	C	14: 54,569,526	R490G	probably damaging	Het
Akap6	A	T	12: 53,141,038	D1745V	probably damaging	Het
Aldh5a1	C	T	13: 24,911,653	G494R	probably damaging	Het
Ankar	T	C	1: 72,658,542	D1034G	probably benign	Het
Aox3	T	A	1: 58,114,885	N23K	probably benign	Het
Arhgef18	T	C	8: 3,450,317	I541T	possibly damaging	Het
Atg14	T	C	14: 47,551,345	K184E	probably benign	Het
Cacnb2	A	G	2: 14,981,440	K343E	probably damaging	Het
Casp8	T	C	1: 58,844,770	V432A	probably damaging	Het
Cd93	A	T	2: 148,442,960	H155Q	probably benign	Het
Cox6b2	T	C	7: 4,752,835	M1V	probably null	Het
Ddx1	C	T	12: 13,223,857	V590I	possibly damaging	Het
Dip2a	G	A	10: 76,319,470	P94S	probably damaging	Het
Dtx3	A	G	10: 127,193,189	I60T	possibly damaging	Het
Fam196b	A	T	11: 34,403,143	E395V	probably benign	Het
Filip1l	T	C	16: 57,506,768	S54P	probably benign	Het
Gm12887	A	T	4: 121,622,102	M1K	probably null	Het
Gm26678	T	C	3: 54,633,083		noncoding transcript	Het
Impg1	A	G	9: 80,345,329	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,805,648	R319Q	probably benign	Het
Irak2	A	G	6: 113,690,856	E466G	probably damaging	Het
Irgm2	C	T	11: 58,219,478		probably benign	Het
Jak3	T	A	8: 71,685,545	V880D	probably damaging	Het
Jmy	G	T	13: 93,498,925	P128T	probably benign	Het
Kif20a	A	G	18: 34,632,038	N775S	probably benign	Het
Kremen1	G	A	11: 5,243,881	Q50*	probably null	Het
Lrrc71	A	G	3: 87,740,991	I438T	probably benign	Het
Map3k1	T	C	13: 111,768,494	T374A	probably benign	Het
Med12l	T	G	3: 59,257,223		probably null	Het
Mrps30	T	C	13: 118,386,840	D132G	probably damaging	Het
Mta1	T	C	12: 113,135,827	M603T	possibly damaging	Het
Myo5a	A	G	9: 75,189,997	N1319S	possibly damaging	Het
Nalcn	T	A	14: 123,599,913	Q13L	probably benign	Het
Nbas	A	G	12: 13,393,343	N1133S	probably damaging	Het
Nsun2	A	G	13: 69,619,541	N205D	probably damaging	Het
Nxpe4	A	T	9: 48,398,837	T467S	probably damaging	Het
Olfr1293-ps	C	T	2: 111,528,201	R314C	probably damaging	Het
Olfr53	T	C	7: 140,652,740	Y254H	probably damaging	Het
Olfr849	T	A	9: 19,441,590	L226I	probably damaging	Het
Pam	A	G	1: 97,884,124		probably null	Het
Pcdh7	G	A	5: 57,719,289	G62D	possibly damaging	Het
Plxna2	C	T	1: 194,644,454	T232I	probably damaging	Het
Prkar1b	A	G	5: 139,108,621	S71P	probably benign	Het
Ptprq	A	T	10: 107,686,283	Y602*	probably null	Het
Rfx4	A	T	10: 84,814,694	M84L	probably benign	Het
Rfx7	A	T	9: 72,619,390	E1287D	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rnf216	A	T	5: 143,093,090	S35T	probably damaging	Het
Rps6kc1	A	G	1: 190,808,900	V402A	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sart3	A	G	5: 113,771,418	M73T	probably benign	Het
Scn10a	G	T	9: 119,631,544	T1088K	probably damaging	Het
Senp2	T	C	16: 22,011,554		probably null	Het
Setd7	T	C	3: 51,542,730	N92D	probably benign	Het
Sipa1	A	T	19: 5,654,089	L735Q	probably damaging	Het
Skint11	C	A	4: 114,244,659	Q99K	probably benign	Het
Slitrk6	A	T	14: 110,751,388	S296T	probably benign	Het
Spc24	T	C	9: 21,756,202		probably null	Het
Tex15	T	C	8: 33,572,137	S806P	probably damaging	Het
Tgm3	A	T	2: 130,044,589	K577*	probably null	Het
Wscd2	A	G	5: 113,560,984	D200G	probably benign	Het
Xpo6	T	C	7: 126,174,182	T24A	possibly damaging	Het
Zfhx2	A	G	14: 55,073,534	C568R	possibly damaging	Het
Zfp599	T	A	9: 22,249,745	K375*	probably null	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
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
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'- GTAATTCTTCTGCTGAGCATGAC -3'
(R):5'- AGTAGGCTGTTCTGCATCCC -3'

Sequencing Primer
(F):5'- AGCATGACCTCACCTGCTGATG -3'
(R):5'- AAGCCCTCCTCCTTGATGAAG -3'

Posted On

2015-06-12