Mutagenetix > Incidental Mutation

Incidental Mutation 'R4737:Cpt1b'

359370

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

042024-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4737 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

89300608-89310065 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89305609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 369 (D369N)

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: D369N

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: D369N

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: 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

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

noncoding transcript
Transcript: ENSMUST00000171140

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170334

Meta Mutation Damage Score

0.1574

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

100% (94/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,055,384 (GRCm39)		noncoding transcript	Het
Acp2	A	T	2: 91,041,068 (GRCm39)	R419W	probably benign	Het
Actr5	A	G	2: 158,469,991 (GRCm39)	N207S	probably damaging	Het
Afap1	G	A	5: 36,119,126 (GRCm39)	V254M	probably benign	Het
Arfgef1	A	T	1: 10,259,836 (GRCm39)	M544K	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Bnip3l-ps	G	A	12: 18,266,773 (GRCm39)		noncoding transcript	Het
Carf	A	G	1: 60,148,477 (GRCm39)	T58A	probably benign	Het
Carns1	A	G	19: 4,220,927 (GRCm39)		probably benign	Het
Ccp110	T	A	7: 118,323,771 (GRCm39)	I670K	possibly damaging	Het
Cftr	T	A	6: 18,299,882 (GRCm39)	D1218E	probably benign	Het
Chrna9	A	T	5: 66,125,214 (GRCm39)	T52S	probably damaging	Het
Chst9	T	C	18: 15,585,834 (GRCm39)	Y243C	probably damaging	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cilk1	A	G	9: 78,057,936 (GRCm39)	T162A	probably damaging	Het
Clk2	A	T	3: 89,076,016 (GRCm39)	H62L	probably benign	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Crhr2	G	T	6: 55,068,290 (GRCm39)	H423Q	probably damaging	Het
D8Ertd738e	T	A	8: 84,976,150 (GRCm39)	I33F	probably damaging	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Ddhd1	A	T	14: 45,866,278 (GRCm39)		probably benign	Het
Ddx27	A	G	2: 166,871,219 (GRCm39)	I480V	probably benign	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Dpy19l3	A	T	7: 35,402,926 (GRCm39)	M562K	probably damaging	Het
Dus3l	T	C	17: 57,074,868 (GRCm39)	L330P	probably damaging	Het
Efcab7	C	T	4: 99,719,805 (GRCm39)	Q96*	probably null	Het
Egfr	T	C	11: 16,819,231 (GRCm39)	F254L	probably damaging	Het
Eml5	C	T	12: 98,765,111 (GRCm39)	V1566M	probably damaging	Het
Entpd7	T	A	19: 43,679,634 (GRCm39)	Y62*	probably null	Het
Erbb4	T	C	1: 68,383,059 (GRCm39)	M313V	probably damaging	Het
Gm5528	A	G	1: 72,043,711 (GRCm39)		noncoding transcript	Het
H2-M9	G	T	17: 36,951,631 (GRCm39)	Y281*	probably null	Het
Hmcn1	T	G	1: 150,565,346 (GRCm39)	K2260N	possibly damaging	Het
Hnf4a	A	G	2: 163,406,139 (GRCm39)	I259V	probably benign	Het
Insm1	A	T	2: 146,064,822 (GRCm39)	T213S	probably benign	Het
Iqca1	T	C	1: 90,005,544 (GRCm39)	D488G	probably damaging	Het
Kdm5a	T	A	6: 120,382,976 (GRCm39)		probably benign	Het
Kdm7a	G	C	6: 39,129,773 (GRCm39)	L468V	possibly damaging	Het
Lck	G	A	4: 129,449,777 (GRCm39)	T229I	possibly damaging	Het
Lig3	T	C	11: 82,678,553 (GRCm39)	L265P	probably damaging	Het
Lipa	T	A	19: 34,479,034 (GRCm39)	K229*	probably null	Het
Lrrk1	C	T	7: 65,956,621 (GRCm39)	S418N	probably benign	Het
Mark2	A	G	19: 7,258,597 (GRCm39)	V126A	probably damaging	Het
Met	T	C	6: 17,491,540 (GRCm39)	C101R	probably damaging	Het
Mkln1	A	T	6: 31,403,734 (GRCm39)	K85M	probably damaging	Het
Mst1	A	G	9: 107,957,720 (GRCm39)	R15G	probably benign	Het
Muc6	T	G	7: 141,226,426 (GRCm39)		probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Myo7b	T	C	18: 32,131,655 (GRCm39)	S514G	probably damaging	Het
Nars1	T	C	18: 64,649,498 (GRCm39)	E11G	probably benign	Het
Ogdh	T	A	11: 6,247,044 (GRCm39)	F23I	probably benign	Het
Or10g9	A	T	9: 39,911,718 (GRCm39)	D268E	probably damaging	Het
Or12e9	T	C	2: 87,202,665 (GRCm39)	I263T	probably damaging	Het
Or4a39	C	T	2: 89,236,830 (GRCm39)	V198I	probably benign	Het
Or4b1b	A	G	2: 90,112,725 (GRCm39)	S65P	probably damaging	Het
Or4c100	C	T	2: 88,356,569 (GRCm39)	S214F	probably damaging	Het
Or52r1c	C	T	7: 102,735,121 (GRCm39)	A127V	probably damaging	Het
Or9k2	T	A	10: 129,998,707 (GRCm39)	T163S	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pappa2	T	C	1: 158,784,582 (GRCm39)	R143G	probably benign	Het
Patl2	T	A	2: 121,955,787 (GRCm39)	T250S	probably damaging	Het
Pcdhac2	C	T	18: 37,278,952 (GRCm39)	T644I	possibly damaging	Het
Pi4kb	C	T	3: 94,911,649 (GRCm39)	T690I	probably damaging	Het
Pla2g4d	T	C	2: 120,097,271 (GRCm39)	Y776C	probably benign	Het
Plekhh2	C	T	17: 84,871,387 (GRCm39)	S215L	probably benign	Het
Psmd2	T	G	16: 20,478,565 (GRCm39)		probably benign	Het
Ptpn21	T	C	12: 98,675,103 (GRCm39)	E183G	probably benign	Het
Ptprg	T	A	14: 12,226,314 (GRCm38)	D527E	probably damaging	Het
Rhobtb1	T	A	10: 69,115,327 (GRCm39)		probably null	Het
Scel	T	A	14: 103,809,473 (GRCm39)	M271K	possibly damaging	Het
Senp3	A	T	11: 69,569,655 (GRCm39)	C310*	probably null	Het
Slc25a3	T	C	10: 90,958,050 (GRCm39)	T97A	possibly damaging	Het
Srsf11	A	T	3: 157,732,369 (GRCm39)	Y82*	probably null	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tbkbp1	T	C	11: 97,039,474 (GRCm39)	E145G	probably damaging	Het
Tln1	T	C	4: 43,540,588 (GRCm39)	N1471S	probably benign	Het
Tnn	T	G	1: 159,973,659 (GRCm39)	D236A	probably damaging	Het
Trmt2a	C	T	16: 18,069,150 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn10	G	A	4: 138,463,259 (GRCm39)		probably benign	Het
Ulk4	G	A	9: 120,902,938 (GRCm39)	Q1180*	probably null	Het
Usp43	T	A	11: 67,746,331 (GRCm39)	K1120N	probably damaging	Het
Uspl1	T	A	5: 149,131,149 (GRCm39)	L244Q	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,629 (GRCm39)	H49R	probably damaging	Het
Vmn2r4	T	C	3: 64,317,384 (GRCm39)	D118G	probably damaging	Het
Vwce	A	G	19: 10,627,943 (GRCm39)	I468V	probably benign	Het
Zbtb7c	G	T	18: 76,279,225 (GRCm39)	R561L	probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	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
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'- TGCCTAGCCTTGGTTACACC -3'
(R):5'- GCTTAGACAAAGGAAGGCCC -3'

Sequencing Primer
(F):5'- AGCCTTGGTTACACCTCTGG -3'
(R):5'- AACTGGGTGTTCTCCGAGGC -3'

Posted On

2015-11-11