Mutagenetix > Incidental Mutation

Incidental Mutation 'R7585:Crat'

587014

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

MMRRC Submission

045635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R7585 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000028209

SMART Domains

Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000113612

SMART Domains

Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
Pfam:PAP2	58	165	1.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123202

SMART Domains

Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
Pfam:PAP2	1	90	8.1e-13	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

probably benign
Transcript: ENSMUST00000137248

SMART Domains

Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000155196

SMART Domains

Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,854,851 (GRCm39)	T64A	probably benign	Het
A930009A15Rik	T	A	10: 115,414,230 (GRCm39)	V52D	unknown	Het
Aadacl2fm2	C	A	3: 59,651,143 (GRCm39)	D88E	possibly damaging	Het
Acacb	A	G	5: 114,384,073 (GRCm39)	I2201V	probably damaging	Het
Aco2	A	C	15: 81,756,685 (GRCm39)		probably benign	Het
Acod1	C	T	14: 103,292,177 (GRCm39)	Q234*	probably null	Het
Actr6	T	C	10: 89,561,658 (GRCm39)	S163G	probably benign	Het
Agmat	T	C	4: 141,477,056 (GRCm39)	V154A	probably benign	Het
Agrn	T	C	4: 156,255,131 (GRCm39)	N1584S	probably benign	Het
Alg6	A	T	4: 99,626,371 (GRCm39)	S60C	probably damaging	Het
Ap5s1	T	C	2: 131,054,482 (GRCm39)	F98L	probably damaging	Het
Atp6v1f	G	A	6: 29,467,927 (GRCm39)	V38I	possibly damaging	Het
B3gnt3	T	C	8: 72,145,972 (GRCm39)	T186A	probably damaging	Het
Brpf1	T	C	6: 113,292,007 (GRCm39)	V351A	possibly damaging	Het
Cacna1g	A	G	11: 94,364,368 (GRCm39)	S26P	probably benign	Het
Camta1	G	A	4: 151,229,287 (GRCm39)	S515L	probably damaging	Het
Ccdc122	C	A	14: 77,329,139 (GRCm39)	A64E	probably damaging	Het
Ccdc89	C	A	7: 90,076,510 (GRCm39)	T240K	possibly damaging	Het
Cercam	T	C	2: 29,771,743 (GRCm39)	L521P	probably damaging	Het
Cfb	T	C	17: 35,076,737 (GRCm39)	N561S	probably benign	Het
Clk3	T	C	9: 57,669,119 (GRCm39)	E159G	probably damaging	Het
Cntf	A	T	19: 12,741,587 (GRCm39)	L91*	probably null	Het
Cntn4	T	A	6: 106,466,572 (GRCm39)	I158N	probably damaging	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col22a1	T	A	15: 71,764,054 (GRCm39)	D66V	probably damaging	Het
Csmd3	T	C	15: 48,485,471 (GRCm39)	T145A	possibly damaging	Het
D130043K22Rik	A	G	13: 25,069,568 (GRCm39)	I876V	probably benign	Het
Dlec1	T	C	9: 118,971,819 (GRCm39)	S1335P	probably benign	Het
Dnah5	A	T	15: 28,402,014 (GRCm39)	T3392S	probably benign	Het
Dnal1	A	G	12: 84,171,267 (GRCm39)	K21E	probably benign	Het
Dspp	T	C	5: 104,323,391 (GRCm39)	V178A	possibly damaging	Het
Dst	A	G	1: 34,153,096 (GRCm39)	D119G	possibly damaging	Het
Dyrk4	T	A	6: 126,867,007 (GRCm39)	I342F	probably damaging	Het
Eif3b	A	G	5: 140,425,757 (GRCm39)	D649G	probably damaging	Het
Exoc7	T	C	11: 116,191,124 (GRCm39)	D259G	probably benign	Het
Fancm	T	C	12: 65,153,021 (GRCm39)	V1159A	possibly damaging	Het
Fat3	T	C	9: 15,909,558 (GRCm39)	D2148G	probably benign	Het
Fdps	C	A	3: 89,001,113 (GRCm39)	R300L	probably benign	Het
Gfm2	T	C	13: 97,315,540 (GRCm39)	L736P	probably benign	Het
Grin2b	T	A	6: 135,756,301 (GRCm39)	T475S	probably damaging	Het
H2-M3	T	G	17: 37,581,599 (GRCm39)	L87R	probably damaging	Het
Hao1	T	A	2: 134,343,076 (GRCm39)	I272F	probably damaging	Het
Hapln2	C	T	3: 87,929,980 (GRCm39)	G299S	probably damaging	Het
Hdac3	A	T	18: 38,078,408 (GRCm39)	I154N	probably damaging	Het
Herc1	A	G	9: 66,352,829 (GRCm39)	D2105G	probably damaging	Het
Kcna2	T	C	3: 107,012,658 (GRCm39)	F413S	probably damaging	Het
Kctd13	A	G	7: 126,528,458 (GRCm39)	T78A	possibly damaging	Het
Kif20a	A	G	18: 34,758,591 (GRCm39)	D20G	probably benign	Het
Kif26b	A	T	1: 178,744,061 (GRCm39)	I1386F	probably benign	Het
Klc4	T	A	17: 46,942,810 (GRCm39)	M585L	probably benign	Het
Lrp4	A	G	2: 91,322,933 (GRCm39)	Y1139C	probably damaging	Het
Lrp5	A	T	19: 3,654,094 (GRCm39)	I1111N	possibly damaging	Het
Lrriq1	A	T	10: 103,050,807 (GRCm39)	D648E	possibly damaging	Het
Mmp2	G	A	8: 93,563,564 (GRCm39)	G346D	probably damaging	Het
Mrgpra4	T	A	7: 47,631,377 (GRCm39)	I75L	probably benign	Het
Muc4	T	A	16: 32,586,076 (GRCm39)	V537D		Het
Myh2	T	A	11: 67,070,237 (GRCm39)		probably null	Het
Myrf	T	C	19: 10,194,091 (GRCm39)	T487A	probably damaging	Het
Nalcn	A	T	14: 123,753,050 (GRCm39)	L312H	probably damaging	Het
Nop14	G	A	5: 34,802,124 (GRCm39)	P560L	probably damaging	Het
Nufip1	C	G	14: 76,348,427 (GRCm39)	P19A	probably benign	Het
Oosp3	G	T	19: 11,678,322 (GRCm39)	M99I	probably benign	Het
Or14c40	T	C	7: 86,313,880 (GRCm39)	*337Q	probably null	Het
Or4c52	A	T	2: 89,845,393 (GRCm39)	I40F	probably damaging	Het
Or4x13	T	A	2: 90,231,367 (GRCm39)	Y121N	probably damaging	Het
Or51aa5	C	A	7: 103,167,166 (GRCm39)	V142L	possibly damaging	Het
Or51k2	A	G	7: 103,596,607 (GRCm39)	N278S	probably benign	Het
Or52n4b	C	A	7: 108,144,598 (GRCm39)	P289T	probably damaging	Het
Or6b2b	A	G	1: 92,419,042 (GRCm39)	V145A	probably benign	Het
Or7e175	T	C	9: 20,040,307 (GRCm39)			Het
Panx2	A	G	15: 88,952,169 (GRCm39)	K212R	probably damaging	Het
Paxip1	A	C	5: 27,977,002 (GRCm39)	H353Q	unknown	Het
Pbx4	C	A	8: 70,285,475 (GRCm39)	D39E	probably damaging	Het
Phc2	G	A	4: 128,604,932 (GRCm39)	A223T	probably benign	Het
Plcl1	A	G	1: 55,445,608 (GRCm39)	D21G	probably benign	Het
Plec	G	A	15: 76,057,632 (GRCm39)	R4102W	probably damaging	Het
Plekhh2	A	G	17: 84,884,608 (GRCm39)	Y774C	probably benign	Het
Polr2a	A	T	11: 69,630,828 (GRCm39)	Y1197N	probably damaging	Het
Psmg4	A	T	13: 34,347,195 (GRCm39)	H46L	probably benign	Het
Ptprk	A	G	10: 28,436,084 (GRCm39)	Y815C	probably damaging	Het
Qrich2	T	C	11: 116,346,547 (GRCm39)	I1426V	probably benign	Het
Rbm43	T	C	2: 51,816,763 (GRCm39)	D68G	probably benign	Het
Rgs6	T	C	12: 83,153,644 (GRCm39)	S360P	probably damaging	Het
Rp1l1	T	G	14: 64,267,588 (GRCm39)	L1058R	probably damaging	Het
Rreb1	A	G	13: 38,077,874 (GRCm39)	S29G	probably benign	Het
Scube1	C	A	15: 83,522,988 (GRCm39)	R284L	possibly damaging	Het
Serpinb9h	G	T	13: 33,588,299 (GRCm39)	D295Y	probably benign	Het
Slc13a3	T	C	2: 165,272,242 (GRCm39)	Q267R	probably benign	Het
Slc49a3	T	C	5: 108,596,685 (GRCm39)	T16A	probably benign	Het
Slc5a1	A	T	5: 33,318,288 (GRCm39)	N647I	probably damaging	Het
Sphk2	A	T	7: 45,361,006 (GRCm39)	S333T	probably benign	Het
Sptan1	A	G	2: 29,890,068 (GRCm39)	D1050G	probably benign	Het
Tdo2	G	T	3: 81,870,065 (GRCm39)	A269E	probably damaging	Het
Tnc	A	T	4: 63,938,648 (GRCm39)	C64S	probably damaging	Het
Trim47	T	A	11: 115,998,383 (GRCm39)	E360D	probably damaging	Het
Trp53i13	T	A	11: 77,399,129 (GRCm39)	T374S	possibly damaging	Het
Try5	A	G	6: 41,288,748 (GRCm39)	L157P	probably benign	Het
Ttn	A	T	2: 76,578,176 (GRCm39)	V24239D	probably damaging	Het
Ttn	T	C	2: 76,773,667 (GRCm39)	Y2318C	unknown	Het
Txn1	T	C	4: 57,945,199 (GRCm39)	D68G	possibly damaging	Het
Upf3a	A	G	8: 13,837,418 (GRCm39)	D121G	probably damaging	Het
Vmn2r114	T	C	17: 23,510,239 (GRCm39)	Y747C	probably damaging	Het
Vmn2r68	A	G	7: 84,881,587 (GRCm39)	W498R	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Zp2	A	T	7: 119,733,167 (GRCm39)	F591L	probably damaging	Het

Other mutations in Crat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GATGACCCTAGTTTTACCAACTTAC -3'
(R):5'- CTCATGCAAGTGAGTGCTAGG -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAAGTGAGTGCTAGGCTCCAG -3'

Posted On

2019-10-24