Mutagenetix > Incidental Mutations

Incidental Mutation 'R0276:Cpt1b'

35416

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

038498-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0276 (G1)

Quality Score

183

Status

Validated

Chromosome

Chromosomal Location

89416405-89425863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89419959 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 503 (H503R)

Ref Sequence

ENSEMBL: ENSMUSP00000104936 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052315

Predicted Effect

probably benign
Transcript: ENSMUST00000109313
AA Change: H503R

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: H503R

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

noncoding transcript
Transcript: ENSMUST00000165419

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

unknown
Transcript: ENSMUST00000168879
AA Change: T118A

SMART Domains

Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
AA Change: T118A

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

Meta Mutation Damage Score

0.2382

Coding Region Coverage

1x: 98.7%
3x: 97.8%
10x: 96.2%
20x: 93.8%

Validation Efficiency

98% (101/103)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts13	A	G	2: 26,975,760	N109S	possibly damaging	Het
Adcy10	T	A	1: 165,572,591	M1523K	possibly damaging	Het
Agtpbp1	C	T	13: 59,462,031	S1095N	possibly damaging	Het
Ang2	C	T	14: 51,195,518	V136I	probably damaging	Het
Arhgap10	A	T	8: 77,413,581	M250K	probably benign	Het
Arhgap33	A	T	7: 30,523,244	W1088R	probably benign	Het
Arhgef15	T	C	11: 68,953,472		probably benign	Het
Aspm	T	C	1: 139,478,471	S1699P	possibly damaging	Het
Atp12a	C	A	14: 56,387,694	D1014E	probably damaging	Het
Atp1a4	T	A	1: 172,257,901	K45M	probably damaging	Het
Atp8a1	A	T	5: 67,786,673		probably benign	Het
Baiap3	A	C	17: 25,243,687	F1099C	probably damaging	Het
Bcas3	T	A	11: 85,470,837		probably null	Het
Bms1	G	A	6: 118,408,134	T371M	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Capn3	T	C	2: 120,488,065		probably benign	Het
Ccdc180	A	G	4: 45,923,534	D1105G	probably damaging	Het
Ccdc33	G	T	9: 58,058,392	P364Q	probably damaging	Het
Ccdc36	A	T	9: 108,428,440	M11K	possibly damaging	Het
Clstn3	A	G	6: 124,431,740		probably benign	Het
Cntrl	A	T	2: 35,151,732	Y619F	possibly damaging	Het
Col12a1	A	T	9: 79,630,741	Y2514*	probably null	Het
Crb1	T	A	1: 139,323,335	T293S	possibly damaging	Het
D130043K22Rik	C	T	13: 24,858,045	T319I	possibly damaging	Het
Dzip1l	G	A	9: 99,660,998	R502Q	probably benign	Het
Efcab5	A	G	11: 77,129,876	M673T	probably damaging	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
F2rl3	A	G	8: 72,762,798	T218A	probably benign	Het
Fam135a	C	T	1: 24,067,964	R31H	probably damaging	Het
Fam84b	G	T	15: 60,823,674	Y74*	probably null	Het
Fcer2a	A	T	8: 3,689,811	N53K	possibly damaging	Het
Gm14085	T	A	2: 122,521,928	S389T	probably damaging	Het
Golgb1	A	C	16: 36,913,876	K1162Q	probably damaging	Het
Gpr137b	A	T	13: 13,367,575		probably benign	Het
Haspin	A	T	11: 73,136,487	L592Q	probably damaging	Het
Helq	A	G	5: 100,790,147	F478L	probably damaging	Het
Il17rb	T	A	14: 30,004,380	T84S	probably damaging	Het
Itga4	T	C	2: 79,321,493	L880P	probably damaging	Het
Itih5	A	G	2: 10,185,564	I61V	possibly damaging	Het
Ivl	G	A	3: 92,571,514	L415F	unknown	Het
Kif2a	A	G	13: 106,976,650		probably benign	Het
Kmt2d	T	C	15: 98,850,311		probably benign	Het
Lars2	A	G	9: 123,438,121		probably benign	Het
Lilrb4a	T	C	10: 51,491,581	V73A	probably benign	Het
Lrrc8a	A	G	2: 30,256,788	D538G	possibly damaging	Het
Lrrk1	G	A	7: 66,296,263		probably benign	Het
Mc2r	A	T	18: 68,408,132	I30K	possibly damaging	Het
Mybbp1a	C	A	11: 72,450,107		probably null	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ncam2	A	G	16: 81,517,629		probably benign	Het
Nlk	T	C	11: 78,571,475	I509V	probably benign	Het
Nlrp2	A	T	7: 5,328,109	N429K	probably benign	Het
Nlrp9b	A	G	7: 20,028,498	T247A	probably benign	Het
Noxo1	A	T	17: 24,700,162		probably null	Het
Olfr1212	T	A	2: 88,958,755	C96*	probably null	Het
Olfr139	A	G	11: 74,045,118	I52T	probably damaging	Het
Olfr353	A	T	2: 36,890,023	M275K	probably benign	Het
Olfr701	A	T	7: 106,818,697	I205L	probably benign	Het
Olfr734	C	A	14: 50,320,179	A219S	probably benign	Het
Oxr1	T	C	15: 41,820,062	S294P	probably damaging	Het
Pfpl	A	G	19: 12,429,237	Y284C	probably damaging	Het
Pi16	A	T	17: 29,326,943	T232S	probably benign	Het
Plcxd2	A	T	16: 46,009,707	N50K	probably benign	Het
Plekhn1	T	A	4: 156,228,246	N52Y	probably damaging	Het
Prl2c5	T	C	13: 13,183,049		probably benign	Het
Prrc2b	G	A	2: 32,219,654	V1080I	probably damaging	Het
Psg28	A	T	7: 18,430,396	N130K	probably benign	Het
Psme4	C	A	11: 30,811,980	T440K	probably damaging	Het
Ptcd2	T	C	13: 99,321,596	K296E	probably benign	Het
Ptprq	T	C	10: 107,542,735		probably null	Het
Rab5b	A	C	10: 128,686,746		probably null	Het
Rft1	T	A	14: 30,690,583	S534T	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rsu1	A	T	2: 13,170,135		probably benign	Het
Senp6	A	G	9: 80,136,747	M887V	probably benign	Het
Sgcz	T	A	8: 37,952,919	M60L	probably benign	Het
Siglec1	G	A	2: 131,083,941	Q282*	probably null	Het
Sipa1l2	T	C	8: 125,421,940	T1655A	probably damaging	Het
Slc43a3	G	A	2: 84,937,663		probably benign	Het
Snx29	T	C	16: 11,738,373	V756A	probably benign	Het
Spta1	T	A	1: 174,217,894	H1539Q	probably damaging	Het
Stk3	A	C	15: 35,099,469	S104A	probably damaging	Het
Stk38	C	A	17: 28,992,416		probably null	Het
Stx6	T	C	1: 155,174,163		probably benign	Het
Thbs4	G	A	13: 92,775,532	T230I	probably benign	Het
Thrsp	A	G	7: 97,417,502	M1T	probably null	Het
Tmem63b	A	T	17: 45,675,373		probably benign	Het
Top2a	A	G	11: 99,009,907		probably benign	Het
Tpd52l2	T	C	2: 181,502,059		probably null	Het
Trak1	A	G	9: 121,454,338	E390G	probably damaging	Het
Trappc3	T	A	4: 126,273,952	D101E	possibly damaging	Het
Trhr	A	G	15: 44,197,086	M1V	probably null	Het
Triobp	T	A	15: 78,973,676	I1159K	probably benign	Het
Unc45a	A	G	7: 80,326,297		probably benign	Het
Usb1	A	G	8: 95,333,457	D12G	probably damaging	Het
Ushbp1	C	T	8: 71,394,649	C113Y	possibly damaging	Het
Vim	A	G	2: 13,574,859	K143R	probably benign	Het
Vmn2r75	T	C	7: 86,148,307	K766R	probably benign	Het
Wdr92	T	C	11: 17,229,821	I274T	probably benign	Het
Xpo5	T	G	17: 46,241,507	C1089G	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
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
R8021:Cpt1b	UTSW	15	89421426	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- GAGGGAGGCACTATTGATCATGCAC -3'
(R):5'- CCTTATCTCCTGCAAGAATGGCCTG -3'

Sequencing Primer
(F):5'- TATGAGCCACGGATCTCAGTC -3'
(R):5'- TCAACACCGAACACTCGTG -3'

Posted On

2013-05-09