Mutagenetix > Incidental Mutation

Incidental Mutation 'R8021:Cpt1b'

617395

Institutional Source

Beutler Lab

Gene Symbol

Cpt1b

Ensembl Gene

ENSMUSG00000078937

Gene Name

carnitine palmitoyltransferase 1b, muscle

Synonyms

M-CPTI, M-CPT I, Cpt1

MMRRC Submission

067460-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89416405-89425863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89421426 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 362 (M362K)

Ref Sequence

ENSEMBL: ENSMUSP00000104936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168376]

AlphaFold

Q924X2

Predicted Effect

probably benign
Transcript: ENSMUST00000023289

SMART Domains

Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:APH	70	317	1.9e-14	PFAM
Pfam:Choline_kinase	97	308	1.5e-76	PFAM
low complexity region	324	344	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000052315

Predicted Effect

probably benign
Transcript: ENSMUST00000109313
AA Change: M362K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: M362K

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.5e-29	PFAM
Pfam:Carn_acyltransf	173	762	1.3e-183	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168376

SMART Domains

Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

Domain	Start	End	E-Value	Type
PDB:2LE3\|A	1	42	1e-21	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000168879

SMART Domains

Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937

Domain	Start	End	E-Value	Type
Pfam:Carn_acyltransf	3	148	3.5e-34	PFAM

Meta Mutation Damage Score

0.1276

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810010H24Rik	A	G	11: 107,025,927	I12V	unknown	Het
9130011E15Rik	C	T	19: 45,956,741		probably null	Het
A630010A05Rik	C	T	16: 14,589,246	T13I		Het
Acsm5	A	G	7: 119,542,393	E537G	possibly damaging	Het
Adam25	C	A	8: 40,754,759	A354E	probably damaging	Het
Adamts3	T	C	5: 89,683,184	K1004E	possibly damaging	Het
Ap3d1	C	A	10: 80,714,301	V699L	probably benign	Het
Arel1	T	G	12: 84,934,958	H216P	possibly damaging	Het
Armc12	T	A	17: 28,530,905	F8I	probably benign	Het
Ascc3	T	A	10: 50,731,648	M1416K	probably benign	Het
Catsperb	A	C	12: 101,588,063	N672T	probably benign	Het
Ccdc30	T	C	4: 119,352,679	H291R	probably benign	Het
Cd33	A	G	7: 43,528,838	V371A	unknown	Het
Dusp5	T	A	19: 53,529,498	S61T	probably benign	Het
Eogt	T	G	6: 97,134,330	D190A	probably damaging	Het
Fat3	T	A	9: 15,999,109	I1866F	probably damaging	Het
Fer1l4	T	A	2: 156,022,591	I1668F	probably damaging	Het
Foxn3	A	T	12: 99,388,902	M1K	probably null	Het
Frs3	T	A	17: 47,703,114	V244E	probably damaging	Het
Gm8765	A	G	13: 50,701,094	N256S	possibly damaging	Het
Grik1	C	T	16: 87,914,222	V832I		Het
Gtf2ird2	T	A	5: 134,203,334	V242E	probably benign	Het
Gtpbp2	C	T	17: 46,164,269	R97C	possibly damaging	Het
Habp2	T	A	19: 56,314,053	V263E	probably benign	Het
Iars2	T	A	1: 185,322,457	I337L	probably benign	Het
Ifi204	T	C	1: 173,759,353		probably benign	Het
Itih2	T	C	2: 10,105,652	T543A	probably benign	Het
Kdm2b	A	G	5: 122,932,919	S372P	probably damaging	Het
Kit	T	A	5: 75,615,491	V311E	possibly damaging	Het
Kmt2c	C	G	5: 25,287,119	V4230L	possibly damaging	Het
Lao1	T	C	4: 118,968,477	I498T	probably damaging	Het
Lrp1	G	T	10: 127,548,346	D3641E	possibly damaging	Het
Mapk8ip1	A	T	2: 92,386,415	S477T	possibly damaging	Het
Mast3	C	T	8: 70,788,252	G218S	probably benign	Het
Mical1	T	C	10: 41,482,724	V546A	probably damaging	Het
Nck2	T	C	1: 43,554,260	V209A	probably benign	Het
Ndufs4	A	G	13: 114,307,815		probably null	Het
Nek3	C	T	8: 22,157,190	V139M	probably damaging	Het
Olfr1417	T	C	19: 11,828,892	I45V	probably benign	Het
Olfr863-ps1	A	C	9: 19,942,079	Y120*	probably null	Het
Olfr877	T	A	9: 37,855,296	H159Q	probably damaging	Het
Olfr994	A	T	2: 85,430,652	M59K	probably damaging	Het
Otog	A	T	7: 46,267,342	N901I	probably damaging	Het
Pclo	A	C	5: 14,539,784	Q699H	unknown	Het
Pcnx	C	T	12: 81,918,819	R59*	probably null	Het
Pde12	A	T	14: 26,665,699	Y551*	probably null	Het
Pigg	A	G	5: 108,319,939	D268G	probably damaging	Het
Ppp1r21	A	G	17: 88,549,507	D130G	probably benign	Het
Psip1	T	C	4: 83,459,955	T435A	possibly damaging	Het
Rad54l2	T	C	9: 106,719,641	S189G	probably benign	Het
Rgs14	T	C	13: 55,383,756	C498R	probably damaging	Het
Ripply3	C	A	16: 94,328,510	A5E	probably benign	Het
Rps6ka4	T	C	19: 6,830,409	D676G	probably benign	Het
Rsbn1	T	C	3: 103,928,582	L312S	possibly damaging	Het
Secisbp2	T	A	13: 51,665,628	*415R	probably null	Het
Sephs1	T	A	2: 4,906,623	F336Y	probably benign	Het
Setdb2	A	T	14: 59,423,384	Y103*	probably null	Het
Slit2	T	A	5: 48,302,492	C1371*	probably null	Het
Stab2	C	T	10: 86,905,539	A1239T	possibly damaging	Het
Taf4b	T	A	18: 14,804,524	V218E	probably damaging	Het
Tars2	T	C	3: 95,747,514	N393S	probably benign	Het
Tbc1d30	A	G	10: 121,267,543	M528T	probably benign	Het
Tchp	A	G	5: 114,718,417	E363G	probably damaging	Het
Tec	T	A	5: 72,757,469	N568I	probably benign	Het
Ticam1	A	G	17: 56,270,089	S669P	unknown	Het
Tnk1	A	G	11: 69,854,984	S372P	probably benign	Het
Tnpo2	G	A	8: 85,055,206	A847T	probably damaging	Het
Tsc1	A	T	2: 28,686,889	I1068F	possibly damaging	Het
Ttc14	T	A	3: 33,809,121	Y559*	probably null	Het
Ttc41	C	A	10: 86,733,714	T652N	probably benign	Het
Tut1	T	A	19: 8,955,509	S69T	probably benign	Het
Uck1	T	C	2: 32,259,917	S40G	probably benign	Het
Vmn2r76	G	A	7: 86,225,750	T673I	probably damaging	Het
Vps13d	G	T	4: 145,148,675	P1760H		Het
Zbp1	T	C	2: 173,209,210	N289S	possibly damaging	Het
Zc3hav1l	C	A	6: 38,297,947		probably benign	Het
Zzef1	A	T	11: 72,823,416	D244V	probably damaging	Het

Other mutations in Cpt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cpt1b	APN	15	89420863	missense	probably benign	0.01
IGL00497:Cpt1b	APN	15	89422293	missense	probably benign	0.22
IGL01142:Cpt1b	APN	15	89418993	missense	probably benign
IGL02329:Cpt1b	APN	15	89423739	missense	probably benign
IGL02740:Cpt1b	APN	15	89424332	missense	probably damaging	1.00
IGL03196:Cpt1b	APN	15	89424395	missense	probably benign
macellaio	UTSW	15	89423654	critical splice donor site	probably null
oleagenous	UTSW	15	89425214	missense	probably damaging	1.00
IGL02796:Cpt1b	UTSW	15	89424802	missense	probably benign	0.04
PIT4519001:Cpt1b	UTSW	15	89418863	missense	probably damaging	1.00
R0276:Cpt1b	UTSW	15	89419959	missense	probably benign	0.12
R0302:Cpt1b	UTSW	15	89417870	missense	probably benign
R0454:Cpt1b	UTSW	15	89424393	missense	possibly damaging	0.47
R1199:Cpt1b	UTSW	15	89419010	missense	probably benign	0.01
R1633:Cpt1b	UTSW	15	89418815	missense	probably damaging	0.98
R1674:Cpt1b	UTSW	15	89422332	missense	possibly damaging	0.64
R2087:Cpt1b	UTSW	15	89422208	missense	probably benign	0.07
R2178:Cpt1b	UTSW	15	89419043	missense	probably damaging	1.00
R2414:Cpt1b	UTSW	15	89420080	splice site	probably benign
R2507:Cpt1b	UTSW	15	89419098	missense	probably benign	0.08
R2883:Cpt1b	UTSW	15	89417869	missense	probably benign	0.00
R3432:Cpt1b	UTSW	15	89423741	missense	possibly damaging	0.85
R3783:Cpt1b	UTSW	15	89425189	missense	probably damaging	1.00
R4574:Cpt1b	UTSW	15	89424044	splice site	probably null
R4737:Cpt1b	UTSW	15	89421406	missense	probably benign	0.03
R5122:Cpt1b	UTSW	15	89424023	missense	probably benign	0.09
R5320:Cpt1b	UTSW	15	89419274	missense	probably benign	0.00
R5365:Cpt1b	UTSW	15	89420107	missense	possibly damaging	0.78
R5699:Cpt1b	UTSW	15	89424273	missense	probably benign	0.44
R5710:Cpt1b	UTSW	15	89425206	missense	probably damaging	1.00
R5873:Cpt1b	UTSW	15	89420728	missense	probably damaging	1.00
R5941:Cpt1b	UTSW	15	89425214	missense	probably damaging	1.00
R6163:Cpt1b	UTSW	15	89424417	missense	probably benign	0.15
R6197:Cpt1b	UTSW	15	89424834	missense	possibly damaging	0.77
R6323:Cpt1b	UTSW	15	89419063	missense	probably benign	0.10
R6486:Cpt1b	UTSW	15	89420824	missense	probably benign
R7571:Cpt1b	UTSW	15	89421343	critical splice donor site	probably null
R7648:Cpt1b	UTSW	15	89421367	missense	probably damaging	1.00
R7743:Cpt1b	UTSW	15	89421404	missense	probably benign	0.25
R7893:Cpt1b	UTSW	15	89423654	critical splice donor site	probably null
R8207:Cpt1b	UTSW	15	89418815	missense	probably damaging	0.98
R8394:Cpt1b	UTSW	15	89422287	critical splice donor site	probably null
R8552:Cpt1b	UTSW	15	89422321	missense	probably damaging	1.00
R8732:Cpt1b	UTSW	15	89424425	missense	probably benign
R9564:Cpt1b	UTSW	15	89419269	missense	probably damaging	1.00
R9643:Cpt1b	UTSW	15	89419026	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGCCTTGGTTACACCTCTGG -3'
(R):5'- GCTTAGACAAAGGAAGGCCC -3'

Sequencing Primer
(F):5'- GCCCCCAGTTCCAGGATG -3'
(R):5'- GCAAATCAGGGTCTGCAGG -3'

Posted On

2020-01-23