Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Cpt2'

43694

Institutional Source

Beutler Lab

Gene Symbol

Cpt2

Ensembl Gene

ENSMUSG00000028607

Gene Name

carnitine palmitoyltransferase 2

Synonyms

CPT II, CPTII

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

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

Stock #

R0046 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

107903981-107923610 bp(-) (GRCm38)

Type of Mutation

splice site (4978 bp from exon)

DNA Base Change (assembly)

A to G at 107904362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030345] [ENSMUST00000106719] [ENSMUST00000106720] [ENSMUST00000131644] [ENSMUST00000135454]

AlphaFold

P52825

Predicted Effect

probably benign
Transcript: ENSMUST00000030345
AA Change: V616A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: V616A

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

possibly damaging
Transcript: ENSMUST00000106720
AA Change: V181A

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607
AA Change: V181A

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

probably null
Transcript: ENSMUST00000135454

SMART Domains

Protein: ENSMUSP00000114234
Gene: ENSMUSG00000028608

Domain	Start	End	E-Value	Type
Pfam:DUF866	1	160	1.7e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175651

Meta Mutation Damage Score

0.7911

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.7%
20x: 93.3%

Validation Efficiency

100% (83/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm38)	K135*	probably null	Het
Adamts16	A	G	13: 70,763,460 (GRCm38)	S871P	probably benign	Het
Adcy10	A	T	1: 165,539,834 (GRCm38)	I558F	probably damaging	Het
Adsl	T	G	15: 80,962,788 (GRCm38)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm38)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm38)	E46G	probably damaging	Het
Ankrd33b	G	A	15: 31,367,337 (GRCm38)	P19L	probably damaging	Het
Apoa5	T	C	9: 46,269,998 (GRCm38)	L124S	probably damaging	Het
Atp1a4	A	T	1: 172,240,097 (GRCm38)	L533Q	probably benign	Het
Atp7b	T	C	8: 22,059,995 (GRCm38)	T9A	probably benign	Het
Auh	G	A	13: 52,929,385 (GRCm38)		probably benign	Het
B3gnt3	T	C	8: 71,692,923 (GRCm38)	Y267C	probably damaging	Het
Card11	T	C	5: 140,908,524 (GRCm38)	T117A	possibly damaging	Het
Ccdc39	A	G	3: 33,844,152 (GRCm38)	F15L	possibly damaging	Het
Chtf18	C	T	17: 25,723,460 (GRCm38)	R468Q	probably benign	Het
Cntnap5c	T	G	17: 58,359,300 (GRCm38)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,408,963 (GRCm38)		probably benign	Het
Col6a6	C	T	9: 105,748,848 (GRCm38)		probably benign	Het
Col9a3	G	A	2: 180,609,487 (GRCm38)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,959,832 (GRCm38)		probably benign	Het
Crebrf	T	A	17: 26,763,334 (GRCm38)	L565M	probably damaging	Het
Cyp2d41-ps	T	A	15: 82,782,035 (GRCm38)		noncoding transcript	Het
Dhx9	C	T	1: 153,472,707 (GRCm38)	V291M	probably benign	Het
Dmxl1	T	A	18: 49,878,082 (GRCm38)	V1102E	probably benign	Het
Dnah7a	A	T	1: 53,456,874 (GRCm38)		probably null	Het
Dock4	G	A	12: 40,737,360 (GRCm38)		probably benign	Het
Dpp3	G	T	19: 4,914,643 (GRCm38)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,298,726 (GRCm38)	N275I	probably damaging	Het
Farp1	A	G	14: 121,255,513 (GRCm38)	K509R	probably benign	Het
Fat3	T	C	9: 15,965,979 (GRCm38)	Y3446C	possibly damaging	Het
Fgd2	T	A	17: 29,374,990 (GRCm38)		probably benign	Het
Flg	T	A	3: 93,277,721 (GRCm38)		probably benign	Het
Gas2l2	A	T	11: 83,421,910 (GRCm38)	W859R	probably damaging	Het
Gatm	T	C	2: 122,600,744 (GRCm38)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm38)	I27F	probably damaging	Het
Gsdmc2	C	A	15: 63,827,755 (GRCm38)		probably benign	Het
Haus5	C	T	7: 30,654,180 (GRCm38)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,330,227 (GRCm38)		probably null	Het
Khdrbs2	A	G	1: 32,619,202 (GRCm38)	D281G	possibly damaging	Het
Krt86	A	T	15: 101,477,402 (GRCm38)	M393L	probably benign	Het
Limk1	T	C	5: 134,672,761 (GRCm38)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,013,155 (GRCm38)	Y100*	probably null	Het
Mamstr	T	G	7: 45,641,770 (GRCm38)		probably benign	Het
Man1a	A	G	10: 53,919,187 (GRCm38)	Y657H	probably damaging	Het
Marf1	G	A	16: 14,111,727 (GRCm38)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,683,818 (GRCm38)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,525,669 (GRCm38)	N881I	probably damaging	Het
Nox3	T	C	17: 3,682,961 (GRCm38)	Y225C	probably benign	Het
Nrp1	C	T	8: 128,500,608 (GRCm38)		probably benign	Het
Or11g26	T	A	14: 50,516,139 (GRCm38)	*312K	probably null	Het
Or4c109	C	T	2: 88,987,349 (GRCm38)	M284I	probably benign	Het
Or4c35	C	T	2: 89,978,507 (GRCm38)	T243I	probably damaging	Het
Or5b105	G	A	19: 13,103,278 (GRCm38)	R3C	possibly damaging	Het
Or8k33	A	G	2: 86,553,632 (GRCm38)	F164S	probably damaging	Het
Pcdhb13	A	T	18: 37,444,257 (GRCm38)	M563L	probably benign	Het
Pclo	C	T	5: 14,540,479 (GRCm38)	T931M	unknown	Het
Peli2	C	T	14: 48,121,202 (GRCm38)	P16S	possibly damaging	Het
Pfas	G	T	11: 68,990,467 (GRCm38)	R1025S	probably benign	Het
Pik3c2a	A	T	7: 116,354,072 (GRCm38)	I1196N	probably damaging	Het
Pmfbp1	A	T	8: 109,535,985 (GRCm38)		probably benign	Het
Prg4	T	C	1: 150,456,086 (GRCm38)	T279A	possibly damaging	Het
Psma1	A	T	7: 114,267,205 (GRCm38)		probably benign	Het
Rab11fip1	A	G	8: 27,153,121 (GRCm38)	L550P	probably damaging	Het
Rgs12	T	A	5: 34,965,320 (GRCm38)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,399,231 (GRCm38)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,471,373 (GRCm38)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,957,656 (GRCm38)	N18D	probably benign	Het
Seh1l	T	C	18: 67,792,016 (GRCm38)		probably null	Het
Sis	T	G	3: 72,932,094 (GRCm38)	N813T	probably benign	Het
Sptbn2	T	C	19: 4,745,377 (GRCm38)		probably benign	Het
Stag3	C	T	5: 138,283,023 (GRCm38)		probably benign	Het
Taar2	G	A	10: 23,941,495 (GRCm38)	R311H	probably benign	Het
Taok3	C	T	5: 117,272,229 (GRCm38)	Q829*	probably null	Het
Tnfrsf21	C	T	17: 43,038,213 (GRCm38)	H239Y	probably benign	Het
Tsbp1	T	C	17: 34,460,121 (GRCm38)		probably null	Het
Ttn	A	G	2: 76,951,542 (GRCm38)		probably benign	Het
Unc79	A	G	12: 103,125,681 (GRCm38)	E1756G	probably damaging	Het
Usp35	A	T	7: 97,313,597 (GRCm38)		probably null	Het
Vmn2r111	A	G	17: 22,548,009 (GRCm38)	F836L	probably benign	Het
Vmn2r77	A	G	7: 86,801,938 (GRCm38)	D344G	possibly damaging	Het
Zbtb40	A	G	4: 136,987,278 (GRCm38)	C1067R	probably damaging	Het

Other mutations in Cpt2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02655:Cpt2	APN	4	107,907,427 (GRCm38)	missense	probably damaging	1.00
IGL02755:Cpt2	APN	4	107,907,775 (GRCm38)	missense	probably damaging	1.00
IGL02803:Cpt2	APN	4	107,907,386 (GRCm38)	missense	probably benign
IGL03066:Cpt2	APN	4	107,907,986 (GRCm38)	missense	probably benign	0.01
IGL03180:Cpt2	APN	4	107,906,960 (GRCm38)	missense	probably damaging	1.00
R0037:Cpt2	UTSW	4	107,907,974 (GRCm38)	missense	probably damaging	0.99
R0046:Cpt2	UTSW	4	107,904,362 (GRCm38)	splice site	probably null
R0598:Cpt2	UTSW	4	107,906,938 (GRCm38)	missense	probably damaging	1.00
R1844:Cpt2	UTSW	4	107,904,255 (GRCm38)	missense	possibly damaging	0.68
R2432:Cpt2	UTSW	4	107,904,526 (GRCm38)	nonsense	probably null
R6326:Cpt2	UTSW	4	107,914,316 (GRCm38)	missense	probably benign	0.00
R6682:Cpt2	UTSW	4	107,904,430 (GRCm38)	missense	probably damaging	1.00
R6803:Cpt2	UTSW	4	107,912,664 (GRCm38)	missense	probably damaging	1.00
R7463:Cpt2	UTSW	4	107,908,157 (GRCm38)	missense	probably damaging	1.00
R7491:Cpt2	UTSW	4	107,907,142 (GRCm38)	missense	probably damaging	1.00
R7572:Cpt2	UTSW	4	107,907,548 (GRCm38)	missense	probably damaging	1.00
R7645:Cpt2	UTSW	4	107,906,974 (GRCm38)	missense	possibly damaging	0.92
R8480:Cpt2	UTSW	4	107,907,760 (GRCm38)	missense	probably damaging	1.00
R8513:Cpt2	UTSW	4	107,906,926 (GRCm38)	missense	probably damaging	1.00
R9323:Cpt2	UTSW	4	107,904,359 (GRCm38)	missense	probably benign	0.00
R9523:Cpt2	UTSW	4	107,907,157 (GRCm38)	missense	probably damaging	1.00
R9608:Cpt2	UTSW	4	107,908,144 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGTTGGGATCTTCCGCTCACAC -3'
(R):5'- GGCTTTGACCGACACTTGTTTGC -3'

Sequencing Primer
(F):5'- ACTGGCTGCTCAAGCAC -3'
(R):5'- CTCTACGGTATCTGGCAGCAG -3'

Posted On

2013-05-29