Mutagenetix > Incidental Mutation

Incidental Mutation 'R7514:Crat'

582277

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

MMRRC Submission

045587-MU

Accession Numbers

Essential gene?

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

Stock #

R7514 (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: 99.8%
20x: 99.4%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,628 (GRCm39)	L261P	probably damaging	Het
A4gnt	A	G	9: 99,502,598 (GRCm39)	I253V	probably benign	Het
AAdacl4fm3	A	T	4: 144,429,798 (GRCm39)	V397D	possibly damaging	Het
Acap2	A	T	16: 30,973,385 (GRCm39)		probably null	Het
Adora2b	G	T	11: 62,156,146 (GRCm39)	M198I	probably damaging	Het
Akap5	C	A	12: 76,375,303 (GRCm39)	T245K	probably benign	Het
Aldh1a2	T	C	9: 71,192,245 (GRCm39)	I399T	probably damaging	Het
Ank2	G	A	3: 126,819,252 (GRCm39)	S473L	probably benign	Het
Anln	A	T	9: 22,272,153 (GRCm39)	D655E	probably damaging	Het
Arhgef10	T	C	8: 15,025,956 (GRCm39)	V820A	probably benign	Het
Arid1b	A	G	17: 5,391,989 (GRCm39)	K1787E	probably benign	Het
Art4	T	C	6: 136,831,739 (GRCm39)	H134R	probably benign	Het
Borcs6	G	A	11: 68,951,410 (GRCm39)	V263M	probably damaging	Het
C8a	A	T	4: 104,703,247 (GRCm39)	M314K	possibly damaging	Het
Cbfa2t3	T	G	8: 123,361,865 (GRCm39)	M386L	probably damaging	Het
Ccdc170	T	A	10: 4,496,839 (GRCm39)	V459E	probably benign	Het
Cdh4	T	A	2: 179,532,636 (GRCm39)	N699K	possibly damaging	Het
Cdk12	T	C	11: 98,113,484 (GRCm39)	L756P	unknown	Het
Chsy1	A	G	7: 65,821,868 (GRCm39)	D701G	probably damaging	Het
Cnot9	A	G	1: 74,567,921 (GRCm39)	T270A	probably benign	Het
Csnk2a1-ps3	A	G	1: 156,352,324 (GRCm39)	D175G	probably benign	Het
Cyb5r1	A	G	1: 134,338,268 (GRCm39)	E228G	probably damaging	Het
D630003M21Rik	A	G	2: 158,059,273 (GRCm39)	L209P	probably damaging	Het
Dennd2c	T	A	3: 103,070,378 (GRCm39)	D791E	probably benign	Het
Dnah14	T	C	1: 181,455,632 (GRCm39)	I919T	probably damaging	Het
Dpp8	T	C	9: 64,986,036 (GRCm39)	L842S	probably damaging	Het
Ern1	A	G	11: 106,300,719 (GRCm39)		probably null	Het
Exo1	T	C	1: 175,734,232 (GRCm39)		probably null	Het
Fam161b	T	G	12: 84,404,512 (GRCm39)	E56A	possibly damaging	Het
Fbrsl1	T	C	5: 110,580,799 (GRCm39)	T153A	probably benign	Het
Fcgr3	T	G	1: 170,886,912 (GRCm39)	D4A	probably benign	Het
Gltp	C	T	5: 114,808,521 (GRCm39)	A193T	probably benign	Het
Gm3159	A	T	14: 4,399,690 (GRCm38)	S142C	probably damaging	Het
Gphn	T	C	12: 78,672,939 (GRCm39)	V485A	probably damaging	Het
Grik2	A	T	10: 49,399,904 (GRCm39)	N275K	probably damaging	Het
Gstt3	G	T	10: 75,612,625 (GRCm39)	Q102K	probably damaging	Het
Hivep3	T	A	4: 119,954,052 (GRCm39)	F789L	possibly damaging	Het
Ing5	A	G	1: 93,744,164 (GRCm39)	N157D	possibly damaging	Het
Itga3	C	T	11: 94,956,722 (GRCm39)	W177*	probably null	Het
Jag2	T	C	12: 112,892,672 (GRCm39)	T83A	probably benign	Het
Krt90	G	A	15: 101,461,605 (GRCm39)	T532I	unknown	Het
Lcn2	A	G	2: 32,277,861 (GRCm39)		probably null	Het
Lrig2	A	G	3: 104,373,076 (GRCm39)	S602P	probably damaging	Het
Lsm1	A	C	8: 26,282,237 (GRCm39)	R33S	probably damaging	Het
Mast4	A	T	13: 102,923,934 (GRCm39)	Y492*	probably null	Het
Mcm3	A	T	1: 20,876,120 (GRCm39)	L658Q	probably benign	Het
Myh4	G	A	11: 67,134,148 (GRCm39)		probably null	Het
Nck2	T	C	1: 43,608,381 (GRCm39)	V341A	probably benign	Het
Nucb1	T	C	7: 45,151,142 (GRCm39)		probably null	Het
Nup210l	G	C	3: 90,117,766 (GRCm39)		probably null	Het
Or1j1	A	G	2: 36,702,651 (GRCm39)	I151T	probably benign	Het
Or5al5	A	T	2: 85,961,972 (GRCm39)	F12I	probably damaging	Het
Or7g22	A	T	9: 19,049,161 (GRCm39)	S291C	possibly damaging	Het
Or8b48	T	A	9: 38,493,347 (GRCm39)	M258K	probably damaging	Het
Or8b54	G	A	9: 38,686,974 (GRCm39)	C141Y	probably damaging	Het
Pla2g4a	G	A	1: 149,727,113 (GRCm39)	P556S	probably damaging	Het
Plat	T	C	8: 23,265,658 (GRCm39)	C234R	probably damaging	Het
Ppfia1	T	C	7: 144,071,450 (GRCm39)	I321V	probably benign	Het
Prrc1	T	A	18: 57,496,325 (GRCm39)	V92E	probably benign	Het
Prss3	A	G	6: 41,350,848 (GRCm39)	V214A	probably damaging	Het
Ptprg	G	T	14: 12,179,342 (GRCm38)	K786N	possibly damaging	Het
Rabgap1	G	T	2: 37,427,354 (GRCm39)	G645V	probably damaging	Het
Rfx4	T	C	10: 84,716,090 (GRCm39)	S470P	probably damaging	Het
Rin3	C	T	12: 102,335,909 (GRCm39)	Q607*	probably null	Het
Sema3a	A	G	5: 13,573,093 (GRCm39)	H207R	probably benign	Het
Serpinb12	G	A	1: 106,878,534 (GRCm39)	E181K	probably damaging	Het
Serpinb6c	G	A	13: 34,081,386 (GRCm39)	Q88*	probably null	Het
Shmt1	A	C	11: 60,692,812 (GRCm39)	C90W	probably damaging	Het
Slc16a13	C	T	11: 70,109,710 (GRCm39)	V264M	probably damaging	Het
Slc17a8	G	T	10: 89,427,969 (GRCm39)	P286Q	probably damaging	Het
Slc27a6	C	T	18: 58,745,293 (GRCm39)	Q576*	probably null	Het
Slc30a9	T	C	5: 67,505,421 (GRCm39)	S470P	possibly damaging	Het
Slc44a2	G	T	9: 21,253,768 (GRCm39)	K136N	possibly damaging	Het
Smarca5	A	T	8: 81,444,163 (GRCm39)	H534Q	probably damaging	Het
Son	T	G	16: 91,451,748 (GRCm39)	L165R	probably damaging	Het
Sox10	G	A	15: 79,040,421 (GRCm39)	P373L	probably benign	Het
Sp100	C	T	1: 85,608,860 (GRCm39)	R330*	probably null	Het
Srrm4	A	G	5: 116,584,570 (GRCm39)	L500P	probably damaging	Het
Tap1	T	C	17: 34,415,639 (GRCm39)	L689P	probably damaging	Het
Tfg	A	G	16: 56,525,972 (GRCm39)		probably null	Het
Tjp2	C	T	19: 24,088,886 (GRCm39)	V677I	probably benign	Het
Tmprss11g	T	G	5: 86,645,176 (GRCm39)	D85A	probably damaging	Het
Tnfsf9	T	C	17: 57,414,238 (GRCm39)	S222P	probably damaging	Het
Trank1	A	G	9: 111,193,824 (GRCm39)	N616S	probably damaging	Het
Tubgcp6	C	A	15: 89,004,728 (GRCm39)	W297L	probably damaging	Het
Twist1	T	C	12: 34,008,355 (GRCm39)	S127P	probably damaging	Het
Ubr4	T	C	4: 139,179,966 (GRCm39)	I247T	unknown	Het
Ubr5	G	A	15: 37,988,481 (GRCm39)	T2153M		Het
Utrn	A	G	10: 12,573,833 (GRCm39)	V1079A	probably benign	Het
Vcan	T	C	13: 89,852,237 (GRCm39)	T908A	probably damaging	Het
Vmn2r104	A	G	17: 20,249,791 (GRCm39)	F827L	probably damaging	Het
Vmn2r111	T	A	17: 22,767,380 (GRCm39)	T706S	probably benign	Het
Vmn2r114	T	C	17: 23,527,035 (GRCm39)	D499G	probably null	Het
Vmn2r92	T	C	17: 18,391,533 (GRCm39)	S512P	probably damaging	Het
Vps4b	A	T	1: 106,708,232 (GRCm39)		probably null	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wnt10b	T	C	15: 98,672,045 (GRCm39)	Q224R	probably benign	Het
Ylpm1	C	T	12: 85,077,268 (GRCm39)	P1331L	possibly damaging	Het
Zfhx4	G	A	3: 5,307,267 (GRCm39)	M164I	possibly damaging	Het
Zfp51	A	G	17: 21,683,762 (GRCm39)	T126A	probably benign	Het
Zfp609	A	G	9: 65,613,418 (GRCm39)	V339A	probably benign	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	probably damaging	Het
Zfyve21	C	T	12: 111,790,249 (GRCm39)	L84F	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
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
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'- TCATGCAAGTGAGTGCTAGG -3'

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

Posted On

2019-10-17