Mutagenetix > Incidental Mutation

Incidental Mutation 'R1990:Crat'

224826

Institutional Source

Beutler Lab

Gene Symbol

Crat

Ensembl Gene

ENSMUSG00000026853

Gene Name

carnitine acetyltransferase

Synonyms

CARAT

Accession Numbers

Essential gene?

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

Stock #

R1990 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30290483-30305825 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30295060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 452 (Y452H)

Ref Sequence

ENSEMBL: ENSMUSP00000099919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028207] [ENSMUST00000028209] [ENSMUST00000102854] [ENSMUST00000102855] [ENSMUST00000113612] [ENSMUST00000123202] [ENSMUST00000132981] [ENSMUST00000156702] [ENSMUST00000154595]

AlphaFold

P47934

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028207
AA Change: Y452H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: Y452H

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

possibly damaging
Transcript: ENSMUST00000102854
AA Change: Y431H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: Y431H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102855
AA Change: Y452H

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: Y452H

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

unknown
Transcript: ENSMUST00000155790
AA Change: Y50H

SMART Domains

Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853
AA Change: Y50H

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

noncoding transcript
Transcript: ENSMUST00000151018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146603

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: ENSMUST00000156702

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Acp6	T	C	3: 97,083,054 (GRCm39)	L355P	probably damaging	Het
Aebp2	T	C	6: 140,579,464 (GRCm39)	S234P	probably damaging	Het
Anapc7	A	G	5: 122,577,567 (GRCm39)	D374G	probably benign	Het
Apob	A	T	12: 8,051,039 (GRCm39)	I1088F	probably damaging	Het
Arid4b	T	C	13: 14,307,021 (GRCm39)	V92A	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Asxl2	G	T	12: 3,534,558 (GRCm39)	G252*	probably null	Het
Atl1	A	T	12: 70,010,102 (GRCm39)	K556M	probably damaging	Het
AU018091	A	G	7: 3,212,104 (GRCm39)	V206A	probably benign	Het
Bcas1	A	T	2: 170,212,397 (GRCm39)	D383E	possibly damaging	Het
Bmx	A	G	X: 163,015,192 (GRCm39)	W257R	probably benign	Het
Bpifb6	T	C	2: 153,747,270 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cand1	A	G	10: 119,045,972 (GRCm39)	S978P	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Caps2	G	A	10: 112,036,591 (GRCm39)	A384T	probably benign	Het
Catsperg2	A	T	7: 29,420,470 (GRCm39)	Y223*	probably null	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cdkn2aip	G	T	8: 48,165,211 (GRCm39)	N167K	probably benign	Het
Ceacam14	T	A	7: 17,549,290 (GRCm39)	L227*	probably null	Het
Ceacam5	A	T	7: 17,491,805 (GRCm39)	D725V	probably damaging	Het
Cldn34a	A	T	X: 151,346,841 (GRCm39)	H171L	probably benign	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cp	A	G	3: 20,033,177 (GRCm39)	D667G	probably damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Cyp4f13	T	A	17: 33,144,542 (GRCm39)	H318L	probably damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	A	G	7: 130,660,018 (GRCm39)	N527S	probably damaging	Het
Fcgbpl1	A	T	7: 27,853,785 (GRCm39)	D1583V	probably damaging	Het
Fgb	G	T	3: 82,951,560 (GRCm39)	Y256*	probably null	Het
Frmd3	T	A	4: 74,105,676 (GRCm39)	S441T	probably damaging	Het
Glp1r	T	A	17: 31,149,722 (GRCm39)	C329S	possibly damaging	Het
Gm14190	G	T	11: 99,581,431 (GRCm39)	Q46K	unknown	Het
Golt1b	T	A	6: 142,338,080 (GRCm39)	F17Y	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
Gulp1	A	C	1: 44,805,274 (GRCm39)	N121T	possibly damaging	Het
Ift122	T	A	6: 115,901,328 (GRCm39)	F1037I	probably damaging	Het
Ildr1	A	T	16: 36,536,568 (GRCm39)	Y199F	probably damaging	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Invs	T	C	4: 48,392,599 (GRCm39)	V271A	possibly damaging	Het
Kcnj2	T	C	11: 110,963,709 (GRCm39)	I367T	probably benign	Het
Kif21b	T	C	1: 136,089,508 (GRCm39)	S1115P	probably damaging	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Lcmt2	C	A	2: 120,970,762 (GRCm39)	R107L	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc9	A	C	12: 72,544,635 (GRCm39)	R71S	probably damaging	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mis18bp1	T	C	12: 65,205,468 (GRCm39)	T235A	probably benign	Het
Mta2	C	T	19: 8,919,696 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek10	A	G	14: 14,860,764 (GRCm38)	T467A	probably benign	Het
Nexn	A	T	3: 151,958,576 (GRCm39)	F106I	probably damaging	Het
Nrdc	T	A	4: 108,896,972 (GRCm39)	Y282*	probably null	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Oma1	C	T	4: 103,178,971 (GRCm39)	T208I	probably damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or4c31	A	G	2: 88,291,686 (GRCm39)	M1V	probably null	Het
Or4d10c	C	A	19: 12,065,620 (GRCm39)	V179F	probably damaging	Het
Or4p21	A	G	2: 88,277,033 (GRCm39)	L83P	probably damaging	Het
Or51a42	A	T	7: 103,708,335 (GRCm39)	I158N	possibly damaging	Het
Or52l1	A	T	7: 104,830,221 (GRCm39)	C115S	probably damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or5p70	A	G	7: 107,995,041 (GRCm39)	Y238C	probably benign	Het
Panx2	A	T	15: 88,953,941 (GRCm39)	Y632F	possibly damaging	Het
Pdia4	T	C	6: 47,773,589 (GRCm39)	T587A	probably benign	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pramel22	T	A	4: 143,380,838 (GRCm39)	Y395F	probably damaging	Het
Prl3b1	C	T	13: 27,429,775 (GRCm39)	T71I	possibly damaging	Het
Rab3gap1	A	G	1: 127,870,166 (GRCm39)	E929G	possibly damaging	Het
Rabl3	T	C	16: 37,384,079 (GRCm39)	I162T	probably benign	Het
Rasgrf2	T	A	13: 92,172,473 (GRCm39)	T188S	probably damaging	Het
Slc12a2	A	G	18: 58,043,358 (GRCm39)	I601V	possibly damaging	Het
Slc25a42	A	T	8: 70,644,519 (GRCm39)	I60N	probably benign	Het
Slc2a3	C	T	6: 122,713,694 (GRCm39)	G173S	probably damaging	Het
Slc46a3	G	A	5: 147,823,404 (GRCm39)	T146M	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Sptbn4	T	C	7: 27,123,235 (GRCm39)	D229G	probably benign	Het
Sspo	T	C	6: 48,427,984 (GRCm39)	I154T	probably benign	Het
Stx5a	T	C	19: 8,726,254 (GRCm39)		probably null	Het
Stxbp6	A	T	12: 44,902,640 (GRCm39)	C210*	probably null	Het
Tagap1	C	T	17: 7,224,285 (GRCm39)	R137Q	probably benign	Het
Tbc1d9	A	G	8: 83,997,932 (GRCm39)	Y1163C	probably damaging	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Ttc28	C	T	5: 111,424,188 (GRCm39)	S1485L	probably benign	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Unc80	T	C	1: 66,731,708 (GRCm39)	L3053P	probably damaging	Het
Wars1	G	T	12: 108,854,359 (GRCm39)	N18K	possibly damaging	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zfp493	T	A	13: 67,934,388 (GRCm39)	C114S	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
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
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'- ATCCATTTGCAGAGAGTCAACAG -3'
(R):5'- GCTGACGTTCCATCACTTTGG -3'

Sequencing Primer
(F):5'- CCATTTGCAGAGAGTCAACAGGAAAG -3'
(R):5'- CCATCACTTTGGAAAGGACTTC -3'

Posted On

2014-08-25