Mutagenetix > Incidental Mutation

Incidental Mutation 'R1674:Cpt1b'

187948

Institutional Source

Beutler Lab

Gene Symbol

Cpt1b

Ensembl Gene

ENSMUSG00000078937

Gene Name

carnitine palmitoyltransferase 1b, muscle

Synonyms

Cpt1, M-CPTI, M-CPT I

MMRRC Submission

039710-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1674 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89300608-89310065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 89306535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 281 (M281K)

Ref Sequence

ENSEMBL: ENSMUSP00000104936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000171666] [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

possibly damaging
Transcript: ENSMUST00000109313
AA Change: M281K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: M281K

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: ENSMUST00000112664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165623

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171140

Predicted Effect

probably benign
Transcript: ENSMUST00000171666

SMART Domains

Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617

Domain	Start	End	E-Value	Type
Pfam:Choline_kinase	1	142	2.5e-51	PFAM
Pfam:APH	1	149	6.9e-14	PFAM
Pfam:EcKinase	2	116	8.8e-8	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

0.5306

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (91/91)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	A	G	3: 79,538,451 (GRCm39)	T66A	probably benign	Het
5430401F13Rik	A	T	6: 131,529,766 (GRCm39)	Q120L	unknown	Het
Akirin1	A	G	4: 123,637,256 (GRCm39)	S110P	possibly damaging	Het
Ankmy2	T	A	12: 36,237,668 (GRCm39)	S256T	probably benign	Het
Areg	T	C	5: 91,291,485 (GRCm39)	F143L	probably damaging	Het
Arhgap42	A	G	9: 9,006,585 (GRCm39)	S604P	probably damaging	Het
Arid1a	A	G	4: 133,416,571 (GRCm39)	V1068A	unknown	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atoh1	T	G	6: 64,706,914 (GRCm39)	I203S	possibly damaging	Het
Atp5mg	T	C	9: 44,825,957 (GRCm39)	T69A	possibly damaging	Het
Baz1b	A	G	5: 135,233,965 (GRCm39)	E164G	probably damaging	Het
Baz2b	A	T	2: 59,743,336 (GRCm39)	V1545E	possibly damaging	Het
Best1	A	G	19: 9,970,590 (GRCm39)		probably null	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Ccdc13	T	C	9: 121,638,208 (GRCm39)	T26A	probably damaging	Het
Ccr6	A	T	17: 8,475,049 (GRCm39)	I85L	probably damaging	Het
Cdh10	A	T	15: 18,985,152 (GRCm39)	N272I	probably benign	Het
Cdh10	T	A	15: 19,013,416 (GRCm39)	I672K	probably damaging	Het
Cdk17	A	T	10: 93,057,492 (GRCm39)	E163V	probably benign	Het
Chsy1	T	C	7: 65,821,411 (GRCm39)	F549L	probably damaging	Het
CN725425	T	C	15: 91,131,124 (GRCm39)	Y420H	possibly damaging	Het
Crlf2	A	G	5: 109,706,669 (GRCm39)		probably null	Het
Ctif	T	C	18: 75,770,251 (GRCm39)	T45A	probably benign	Het
Ddx31	T	C	2: 28,748,828 (GRCm39)	F252S	probably damaging	Het
Dennd2d	T	C	3: 106,399,833 (GRCm39)	I242T	probably benign	Het
Dennd5b	A	G	6: 148,899,782 (GRCm39)	F1205S	probably damaging	Het
Dop1a	T	C	9: 86,418,213 (GRCm39)	S1981P	probably damaging	Het
Dsg1b	A	T	18: 20,532,578 (GRCm39)	T541S	probably benign	Het
Dst	T	A	1: 34,262,876 (GRCm39)		probably null	Het
Dysf	T	C	6: 84,156,697 (GRCm39)	V1508A	probably benign	Het
Erf	A	T	7: 24,944,731 (GRCm39)	L200Q	possibly damaging	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Esrrb	C	T	12: 86,561,225 (GRCm39)	L320F	probably damaging	Het
Fap	T	A	2: 62,349,349 (GRCm39)	D508V	probably benign	Het
Fdft1	A	C	14: 63,402,034 (GRCm39)	N48K	probably benign	Het
Fdps	A	G	3: 89,008,037 (GRCm39)	V94A	probably benign	Het
Fes	A	T	7: 80,027,686 (GRCm39)	H819Q	probably benign	Het
Foxd1	G	T	13: 98,491,347 (GRCm39)	D74Y	unknown	Het
Gm136	A	T	4: 34,746,662 (GRCm39)		probably benign	Het
Gm5919	T	A	9: 83,765,338 (GRCm39)	L58*	probably null	Het
Gm6871	C	T	7: 41,223,059 (GRCm39)	V10I	possibly damaging	Het
Isy1	T	C	6: 87,811,469 (GRCm39)	R29G	probably damaging	Het
Kif16b	T	A	2: 142,554,873 (GRCm39)	K653*	probably null	Het
Kif17	A	G	4: 138,028,569 (GRCm39)	T706A	probably benign	Het
Kif18b	G	T	11: 102,803,886 (GRCm39)	P425T	probably benign	Het
Lama1	T	A	17: 68,098,239 (GRCm39)	V1812E	probably benign	Het
Lama5	A	G	2: 179,843,780 (GRCm39)	V430A	probably benign	Het
Lclat1	A	G	17: 73,546,776 (GRCm39)	E231G	probably damaging	Het
Lig4	T	C	8: 10,021,692 (GRCm39)	D696G	probably benign	Het
Mylpf	T	A	7: 126,813,309 (GRCm39)	V151E	probably damaging	Het
Naa16	A	T	14: 79,624,497 (GRCm39)	M1K	probably null	Het
Ndufaf6	T	C	4: 11,070,264 (GRCm39)	K119R	probably benign	Het
Nt5c1b	T	C	12: 10,420,055 (GRCm39)		probably benign	Het
Or14a260	G	A	7: 85,984,765 (GRCm39)	P280S	probably damaging	Het
Or4a27	A	G	2: 88,559,601 (GRCm39)	V114A	probably damaging	Het
Or5t17	T	C	2: 86,832,577 (GRCm39)	V88A	probably benign	Het
Or8k33	T	A	2: 86,384,204 (GRCm39)	D88V	probably damaging	Het
Or9i16	T	A	19: 13,864,954 (GRCm39)	I207L	probably benign	Het
Otud4	A	G	8: 80,399,776 (GRCm39)	N830S	probably benign	Het
Pdcd10	A	C	3: 75,448,486 (GRCm39)	M26R	probably damaging	Het
Pitpnc1	A	G	11: 107,117,071 (GRCm39)	V223A	possibly damaging	Het
Pkp2	A	G	16: 16,058,422 (GRCm39)	D368G	possibly damaging	Het
Pla1a	A	T	16: 38,235,172 (GRCm39)	M174K	probably benign	Het
Polr2b	A	G	5: 77,474,470 (GRCm39)	K436E	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rdh16	A	G	10: 127,637,226 (GRCm39)	M54V	probably benign	Het
Sall2	C	A	14: 52,551,293 (GRCm39)	C632F	probably damaging	Het
Sart1	T	A	19: 5,435,853 (GRCm39)	I120F	probably damaging	Het
Slco1a1	A	T	6: 141,881,661 (GRCm39)	M157K	probably damaging	Het
Snapc4	T	C	2: 26,266,209 (GRCm39)	T178A	probably benign	Het
Sox6	T	C	7: 115,400,654 (GRCm39)	I63V	probably benign	Het
Spin1	T	A	13: 51,303,135 (GRCm39)	Y243N	probably damaging	Het
Stmnd1	T	C	13: 46,453,097 (GRCm39)	Y258H	possibly damaging	Het
Tex13b	A	T	X: 139,710,819 (GRCm39)	N184K	probably benign	Het
Tgm5	T	C	2: 120,902,025 (GRCm39)	T215A	possibly damaging	Het
Tnks2	A	G	19: 36,849,022 (GRCm39)	T165A	probably benign	Het
Top2a	A	T	11: 98,900,099 (GRCm39)	F667Y	probably damaging	Het
Tpo	T	C	12: 30,150,567 (GRCm39)	M438V	probably benign	Het
Tyw1	A	G	5: 130,298,169 (GRCm39)	R237G	probably benign	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Unc80	A	C	1: 66,548,467 (GRCm39)	T580P	probably damaging	Het
Upp2	G	A	2: 58,680,076 (GRCm39)	E301K	probably benign	Het
Utp18	A	G	11: 93,766,879 (GRCm39)		probably null	Het
Vmn1r23	T	C	6: 57,903,046 (GRCm39)	D244G	possibly damaging	Het
Vps13c	T	A	9: 67,760,985 (GRCm39)	L51*	probably null	Het
Xpnpep3	A	G	15: 81,314,968 (GRCm39)	T223A	probably benign	Het
Zfp28	T	A	7: 6,397,942 (GRCm39)	H792Q	possibly damaging	Het
Zfp804a	A	G	2: 82,089,168 (GRCm39)	K999R	probably benign	Het
Zkscan16	G	A	4: 58,948,918 (GRCm39)	V158M	possibly damaging	Het

Other mutations in Cpt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Cpt1b	APN	15	89,305,066 (GRCm39)	missense	probably benign	0.01
IGL00497:Cpt1b	APN	15	89,306,496 (GRCm39)	missense	probably benign	0.22
IGL01142:Cpt1b	APN	15	89,303,196 (GRCm39)	missense	probably benign
IGL02329:Cpt1b	APN	15	89,307,942 (GRCm39)	missense	probably benign
IGL02740:Cpt1b	APN	15	89,308,535 (GRCm39)	missense	probably damaging	1.00
IGL03196:Cpt1b	APN	15	89,308,598 (GRCm39)	missense	probably benign
macellaio	UTSW	15	89,307,857 (GRCm39)	critical splice donor site	probably null
oleagenous	UTSW	15	89,309,417 (GRCm39)	missense	probably damaging	1.00
IGL02796:Cpt1b	UTSW	15	89,309,005 (GRCm39)	missense	probably benign	0.04
PIT4519001:Cpt1b	UTSW	15	89,303,066 (GRCm39)	missense	probably damaging	1.00
R0276:Cpt1b	UTSW	15	89,304,162 (GRCm39)	missense	probably benign	0.12
R0302:Cpt1b	UTSW	15	89,302,073 (GRCm39)	missense	probably benign
R0454:Cpt1b	UTSW	15	89,308,596 (GRCm39)	missense	possibly damaging	0.47
R1199:Cpt1b	UTSW	15	89,303,213 (GRCm39)	missense	probably benign	0.01
R1633:Cpt1b	UTSW	15	89,303,018 (GRCm39)	missense	probably damaging	0.98
R2087:Cpt1b	UTSW	15	89,306,411 (GRCm39)	missense	probably benign	0.07
R2178:Cpt1b	UTSW	15	89,303,246 (GRCm39)	missense	probably damaging	1.00
R2414:Cpt1b	UTSW	15	89,304,283 (GRCm39)	splice site	probably benign
R2507:Cpt1b	UTSW	15	89,303,301 (GRCm39)	missense	probably benign	0.08
R2883:Cpt1b	UTSW	15	89,302,072 (GRCm39)	missense	probably benign	0.00
R3432:Cpt1b	UTSW	15	89,307,944 (GRCm39)	missense	possibly damaging	0.85
R3783:Cpt1b	UTSW	15	89,309,392 (GRCm39)	missense	probably damaging	1.00
R4574:Cpt1b	UTSW	15	89,308,247 (GRCm39)	splice site	probably null
R4737:Cpt1b	UTSW	15	89,305,609 (GRCm39)	missense	probably benign	0.03
R5122:Cpt1b	UTSW	15	89,308,226 (GRCm39)	missense	probably benign	0.09
R5320:Cpt1b	UTSW	15	89,303,477 (GRCm39)	missense	probably benign	0.00
R5365:Cpt1b	UTSW	15	89,304,310 (GRCm39)	missense	possibly damaging	0.78
R5699:Cpt1b	UTSW	15	89,308,476 (GRCm39)	missense	probably benign	0.44
R5710:Cpt1b	UTSW	15	89,309,409 (GRCm39)	missense	probably damaging	1.00
R5873:Cpt1b	UTSW	15	89,304,931 (GRCm39)	missense	probably damaging	1.00
R5941:Cpt1b	UTSW	15	89,309,417 (GRCm39)	missense	probably damaging	1.00
R6163:Cpt1b	UTSW	15	89,308,620 (GRCm39)	missense	probably benign	0.15
R6197:Cpt1b	UTSW	15	89,309,037 (GRCm39)	missense	possibly damaging	0.77
R6323:Cpt1b	UTSW	15	89,303,266 (GRCm39)	missense	probably benign	0.10
R6486:Cpt1b	UTSW	15	89,305,027 (GRCm39)	missense	probably benign
R7571:Cpt1b	UTSW	15	89,305,546 (GRCm39)	critical splice donor site	probably null
R7648:Cpt1b	UTSW	15	89,305,570 (GRCm39)	missense	probably damaging	1.00
R7743:Cpt1b	UTSW	15	89,305,607 (GRCm39)	missense	probably benign	0.25
R7893:Cpt1b	UTSW	15	89,307,857 (GRCm39)	critical splice donor site	probably null
R8021:Cpt1b	UTSW	15	89,305,629 (GRCm39)	missense	probably benign	0.00
R8207:Cpt1b	UTSW	15	89,303,018 (GRCm39)	missense	probably damaging	0.98
R8394:Cpt1b	UTSW	15	89,306,490 (GRCm39)	critical splice donor site	probably null
R8552:Cpt1b	UTSW	15	89,306,524 (GRCm39)	missense	probably damaging	1.00
R8732:Cpt1b	UTSW	15	89,308,628 (GRCm39)	missense	probably benign
R9564:Cpt1b	UTSW	15	89,303,472 (GRCm39)	missense	probably damaging	1.00
R9643:Cpt1b	UTSW	15	89,303,229 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- GCGTGTAGTGTTGAACATCCTCTCC -3'
(R):5'- AATGGGCAGTGAACAGCTCTGG -3'

Sequencing Primer
(F):5'- TCTCCATCTGGTAGGAGCAC -3'
(R):5'- TGAACAGCTCTGGTCGAAGC -3'

Posted On

2014-05-09