Mutagenetix > Incidental Mutation

Incidental Mutation 'R5941:Cpt1b'

460305

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

044133-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5941 (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 89309417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 39 (W39R)

Ref Sequence

ENSEMBL: ENSMUSP00000104936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168376] [ENSMUST00000171666] [ENSMUST00000170460] [ENSMUST00000168646]

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 damaging
Transcript: ENSMUST00000109313
AA Change: W39R

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

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: W39R

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

probably damaging
Transcript: ENSMUST00000168376
AA Change: W39R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937
AA Change: W39R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166267

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: ENSMUST00000170460

SMART Domains

Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617

Domain	Start	End	E-Value	Type
Pfam:Choline_kinase	1	176	1e-65	PFAM
Pfam:APH	8	176	6.1e-13	PFAM

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168646

Meta Mutation Damage Score

0.9524

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.2%

Validation Efficiency

97% (95/98)

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
Acsm2	T	A	7: 119,190,321 (GRCm39)	D70E	probably damaging	Het
Adamts14	C	T	10: 61,057,674 (GRCm39)	G561R	probably damaging	Het
Alpk3	A	T	7: 80,728,401 (GRCm39)	K510N	probably damaging	Het
Ap3b1	A	G	13: 94,576,781 (GRCm39)	N269D	probably benign	Het
Ap3b1	T	C	13: 94,619,773 (GRCm39)	S144P	probably damaging	Het
Apba2	C	A	7: 64,395,464 (GRCm39)	Q635K	probably benign	Het
Aspg	C	T	12: 112,079,519 (GRCm39)	T99I	probably benign	Het
Atp7b	A	G	8: 22,487,512 (GRCm39)	V1179A	probably damaging	Het
Bbs12	T	C	3: 37,374,197 (GRCm39)	V215A	probably damaging	Het
Bcl2l11	C	A	2: 127,969,703 (GRCm39)		probably benign	Het
Bglap3	T	G	3: 88,283,653 (GRCm39)		probably benign	Het
Cchcr1	G	A	17: 35,835,890 (GRCm39)	R284Q	probably damaging	Het
Cdh26	C	T	2: 178,123,443 (GRCm39)	Q662*	probably null	Het
Cftr	T	A	6: 18,313,645 (GRCm39)	F1290I	probably damaging	Het
Clip3	G	A	7: 29,991,731 (GRCm39)	E36K	probably damaging	Het
Cog2	A	G	8: 125,272,825 (GRCm39)	I541V	probably benign	Het
Csmd1	A	G	8: 15,982,471 (GRCm39)	V2732A	probably damaging	Het
Dlec1	A	G	9: 118,955,380 (GRCm39)	D688G	probably damaging	Het
Dnah12	A	G	14: 26,428,022 (GRCm39)	E216G	probably benign	Het
Dnah7b	C	A	1: 46,226,450 (GRCm39)	L1294I	probably damaging	Het
Duox1	T	A	2: 122,174,637 (GRCm39)	L1265Q	probably damaging	Het
Fam91a1	T	A	15: 58,303,166 (GRCm39)	D358E	probably benign	Het
Fat3	A	C	9: 15,910,797 (GRCm39)	I1735S	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gabrr1	T	A	4: 33,162,676 (GRCm39)	M414K	probably benign	Het
Gm21915	A	C	9: 40,581,995 (GRCm39)	E29D	possibly damaging	Het
Gm9955	G	A	18: 24,842,320 (GRCm39)		probably benign	Het
Gpat2	C	A	2: 127,270,195 (GRCm39)	D69E	possibly damaging	Het
Grin2b	T	G	6: 135,713,371 (GRCm39)	I837L	probably damaging	Het
Gucy2g	T	C	19: 55,203,563 (GRCm39)	D745G	probably damaging	Het
H2-Q1	A	G	17: 35,540,332 (GRCm39)	Y139C	probably damaging	Het
Ints2	G	C	11: 86,141,798 (GRCm39)	N216K	probably benign	Het
Jmy	G	A	13: 93,635,333 (GRCm39)	P161L	probably benign	Het
Kctd11	G	A	11: 69,770,799 (GRCm39)	R80W	possibly damaging	Het
Kif7	A	G	7: 79,360,880 (GRCm39)		probably benign	Het
Kifc1	C	T	17: 34,102,059 (GRCm39)		probably benign	Het
Lcor	G	A	19: 41,574,839 (GRCm39)	R1198Q	probably damaging	Het
Mir412	C	A	12: 109,709,733 (GRCm39)		noncoding transcript	Het
Mknk1	T	A	4: 115,733,834 (GRCm39)		probably benign	Het
Mmp16	A	G	4: 18,054,354 (GRCm39)		probably benign	Het
Mmp7	A	G	9: 7,697,646 (GRCm39)	H227R	probably damaging	Het
Myh4	A	C	11: 67,150,126 (GRCm39)	D1861A	probably damaging	Het
Nup205	T	C	6: 35,209,343 (GRCm39)	L1550P	probably damaging	Het
Or10g1	C	T	14: 52,647,525 (GRCm39)	G268D	probably benign	Het
Or2a56	G	T	6: 42,932,650 (GRCm39)	A73S	possibly damaging	Het
Or4c113	T	A	2: 88,884,963 (GRCm39)	H269L	probably benign	Het
Or4c58	T	A	2: 89,674,859 (GRCm39)	I153F	probably benign	Het
Or51af1	A	G	7: 103,141,927 (GRCm39)	S53P	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pafah1b2	A	T	9: 45,887,405 (GRCm39)	C35*	probably null	Het
Pappa	T	A	4: 65,232,830 (GRCm39)	F1323Y	possibly damaging	Het
Phtf2	A	T	5: 20,979,071 (GRCm39)	F519Y	probably damaging	Het
Pigk	T	C	3: 152,472,150 (GRCm39)	I354T	possibly damaging	Het
Plekha7	T	C	7: 115,724,040 (GRCm39)	D1265G	possibly damaging	Het
Prss12	A	G	3: 123,299,150 (GRCm39)	R641G	probably benign	Het
Prss28	A	G	17: 25,528,717 (GRCm39)	Y53C	probably damaging	Het
Rabgap1	G	T	2: 37,451,908 (GRCm39)	C936F	possibly damaging	Het
Rap1a	T	C	3: 105,639,385 (GRCm39)	I91M	possibly damaging	Het
Rap1gap2	A	T	11: 74,283,063 (GRCm39)	M679K	probably damaging	Het
Rapgef5	T	A	12: 117,692,473 (GRCm39)	L352I	probably damaging	Het
Rhbdl3	G	A	11: 80,222,715 (GRCm39)	V255M	probably benign	Het
Rhot1	T	C	11: 80,141,996 (GRCm39)		probably benign	Het
Rita1	A	C	5: 120,747,626 (GRCm39)	V224G	probably benign	Het
Ryr2	T	A	13: 11,702,788 (GRCm39)	Y2900F	probably damaging	Het
Scaf11	A	C	15: 96,318,189 (GRCm39)	H458Q	probably damaging	Het
Scamp4	T	A	10: 80,448,255 (GRCm39)	S159T	probably benign	Het
Setd5	T	A	6: 113,105,451 (GRCm39)	Y828N	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Sipa1l2	A	G	8: 126,200,275 (GRCm39)	S684P	probably damaging	Het
Stard9	A	T	2: 120,544,039 (GRCm39)	I4446F	probably damaging	Het
Sult1c2	T	C	17: 54,138,926 (GRCm39)	D217G	probably benign	Het
Supt16	C	A	14: 52,419,653 (GRCm39)	K148N	probably benign	Het
Syne3	G	A	12: 104,913,251 (GRCm39)	S570L	probably benign	Het
Tcf3	G	T	10: 80,248,878 (GRCm39)	D534E	probably benign	Het
Tmed6	G	T	8: 107,790,786 (GRCm39)	T87K	probably damaging	Het
Trbv3	T	C	6: 41,025,335 (GRCm39)	I3T	probably benign	Het
Trbv4	T	A	6: 41,036,563 (GRCm39)	Y29*	probably null	Het
Ttl	A	G	2: 128,917,904 (GRCm39)	N122S	probably benign	Het
Txndc11	T	C	16: 10,892,935 (GRCm39)	T932A	probably benign	Het
Ube2e2	G	A	14: 18,586,910 (GRCm38)	A150V	probably damaging	Het
Ube2ql1	T	C	13: 69,887,459 (GRCm39)	M1V	probably null	Het
Uqcrc1	A	G	9: 108,776,554 (GRCm39)		probably benign	Het
Utrn	T	C	10: 12,362,227 (GRCm39)	D2702G	probably damaging	Het
Vcan	T	A	13: 89,840,810 (GRCm39)	D618V	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,787 (GRCm39)		noncoding transcript	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zap70	G	A	1: 36,810,030 (GRCm39)	V47M	probably damaging	Het
Zfp770	A	G	2: 114,028,027 (GRCm39)	M14T	possibly damaging	Het
Zup1	C	T	10: 33,825,458 (GRCm39)	G8D	probably 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
R1674:Cpt1b	UTSW	15	89,306,535 (GRCm39)	missense	possibly damaging	0.64
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
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'- GGATAGAGGCTATCTACAACCAC -3'
(R):5'- ACCATTGCTGATCGGCTTGC -3'

Sequencing Primer
(F):5'- ACCACCAGCACTGCTTG -3'
(R):5'- CTTGGAAGGACCCAGCAG -3'

Posted On

2017-02-28