Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Cpt2'

533425

Institutional Source

Beutler Lab

Gene Symbol

Cpt2

Ensembl Gene

ENSMUSG00000028607

Gene Name

carnitine palmitoyltransferase 2

Synonyms

CPTII, CPT II

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107761179-107780786 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107769861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 79 (N79S)

Ref Sequence

ENSEMBL: ENSMUSP00000114362 (fasta)

Gene Model

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

AlphaFold

P52825

Predicted Effect

probably benign
Transcript: ENSMUST00000030345
AA Change: N106S

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000030345
Gene: ENSMUSG00000028607
AA Change: N106S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106719
AA Change: N106S

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102330
Gene: ENSMUSG00000028607
AA Change: N106S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106720
AA Change: N106S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102331
Gene: ENSMUSG00000028607
AA Change: N106S

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 damaging
Transcript: ENSMUST00000131644
AA Change: N79S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114362
Gene: ENSMUSG00000028607
AA Change: N79S

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

Meta Mutation Damage Score

0.1573

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	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
IGL03180:Cpt2	APN	4	107,764,157 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGGACTCCTGCATCGTTTTC -3'
(R):5'- TCTGGGATATACTTTTGAGGACCC -3'

Sequencing Primer
(F):5'- CTGCATCGTTTTCAGACAGAATCG -3'
(R):5'- ATATACTTTTGAGGACCCGGAGTC -3'

Posted On

2018-09-12