Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Cpt2'

412197

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cpt2

Ensembl Gene

ENSMUSG00000028607

Gene Name

carnitine palmitoyltransferase 2

Synonyms

CPTII, CPT II

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

107761179-107780786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107764157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 536 (S536T)

Ref Sequence

ENSEMBL: ENSMUSP00000030345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644]

AlphaFold

P52825

Predicted Effect

probably damaging
Transcript: ENSMUST00000030345
AA Change: S536T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: S536T

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	49	648	1.4e-190	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106719

SMART Domains

Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	48	265	1.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106720

SMART Domains

Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	48	113	2.1e-21	PFAM
Pfam:Carn_acyltransf	101	214	1.9e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131644

SMART Domains

Protein: ENSMUSP00000114362
Gene: ENSMUSG00000028607

Domain	Start	End	E-Value	Type
PDB:4EYW\|B	27	88	2e-28	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175651

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Sla	A	G	15: 66,661,569 (GRCm39)	I121T	probably benign	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	Het

Other mutations in Cpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02655:Cpt2	APN	4	107,764,624 (GRCm39)	missense	probably damaging	1.00
IGL02755:Cpt2	APN	4	107,764,972 (GRCm39)	missense	probably damaging	1.00
IGL02803:Cpt2	APN	4	107,764,583 (GRCm39)	missense	probably benign
IGL03066:Cpt2	APN	4	107,765,183 (GRCm39)	missense	probably benign	0.01
R0037:Cpt2	UTSW	4	107,765,171 (GRCm39)	missense	probably damaging	0.99
R0046:Cpt2	UTSW	4	107,761,559 (GRCm39)	splice site	probably null
R0046:Cpt2	UTSW	4	107,761,559 (GRCm39)	splice site	probably null
R0598:Cpt2	UTSW	4	107,764,135 (GRCm39)	missense	probably damaging	1.00
R1844:Cpt2	UTSW	4	107,761,452 (GRCm39)	missense	possibly damaging	0.68
R2432:Cpt2	UTSW	4	107,761,723 (GRCm39)	nonsense	probably null
R6326:Cpt2	UTSW	4	107,771,513 (GRCm39)	missense	probably benign	0.00
R6682:Cpt2	UTSW	4	107,761,627 (GRCm39)	missense	probably damaging	1.00
R6803:Cpt2	UTSW	4	107,769,861 (GRCm39)	missense	probably damaging	1.00
R7463:Cpt2	UTSW	4	107,765,354 (GRCm39)	missense	probably damaging	1.00
R7491:Cpt2	UTSW	4	107,764,339 (GRCm39)	missense	probably damaging	1.00
R7572:Cpt2	UTSW	4	107,764,745 (GRCm39)	missense	probably damaging	1.00
R7645:Cpt2	UTSW	4	107,764,171 (GRCm39)	missense	possibly damaging	0.92
R8480:Cpt2	UTSW	4	107,764,957 (GRCm39)	missense	probably damaging	1.00
R8513:Cpt2	UTSW	4	107,764,123 (GRCm39)	missense	probably damaging	1.00
R9323:Cpt2	UTSW	4	107,761,556 (GRCm39)	missense	probably benign	0.00
R9523:Cpt2	UTSW	4	107,764,354 (GRCm39)	missense	probably damaging	1.00
R9608:Cpt2	UTSW	4	107,765,341 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02