Mutagenetix > Incidental Mutation

Incidental Mutation 'R8178:Cpt1c'

634482

Institutional Source

Beutler Lab

Gene Symbol

Cpt1c

Ensembl Gene

ENSMUSG00000007783

Gene Name

carnitine palmitoyltransferase 1c

Synonyms

CPT I-C, 9630004I06Rik

MMRRC Submission

067603-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44608796-44624275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44609077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 748 (H748P)

Ref Sequence

ENSEMBL: ENSMUSP00000069539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000212836]

AlphaFold

Q8BGD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000063761
AA Change: H748P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783
AA Change: H748P

Domain	Start	End	E-Value	Type
Pfam:CPT_N	1	47	2.3e-21	PFAM
transmembrane domain	104	126	N/A	INTRINSIC
Pfam:Carn_acyltransf	171	757	7.7e-167	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080233

SMART Domains

Protein: ENSMUSP00000079122
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	525	5.7e-281	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120929

SMART Domains

Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891

Domain	Start	End	E-Value	Type
Pfam:TSKS	26	585	8.1e-297	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208475

Predicted Effect

probably damaging
Transcript: ENSMUST00000212836
AA Change: H748P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

99% (68/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein regulates the beta-oxidation and transport of long-chain fatty acids into mitochondria, and may play a role in the regulation of feeding behavior and whole-body energy homeostasis. Alternatively spliced transcript variants encoding multiple protein isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Targeted mutations in this gene result in reduced body weight, increases in circulating fatty acid levels and mild insulin resistance. Mice homozygous for a different targeted knock-out exhibit reduced ceramide levels, impaired dendritic spine maturationand impaired spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513D11Rik	A	G	17: 79,935,699 (GRCm39)	I276V		Het
Acsm5	C	A	7: 119,141,618 (GRCm39)	H538N	probably damaging	Het
Adamts17	A	G	7: 66,499,464 (GRCm39)	I4V	possibly damaging	Het
Adgrg3	T	C	8: 95,761,675 (GRCm39)	V146A	probably damaging	Het
Ankrd52	T	A	10: 128,225,170 (GRCm39)	L877Q	probably damaging	Het
Aox3	A	T	1: 58,189,481 (GRCm39)	D394V	possibly damaging	Het
Arhgap45	G	A	10: 79,863,706 (GRCm39)	A819T	probably damaging	Het
Arhgef4	A	G	1: 34,761,983 (GRCm39)	E413G	unknown	Het
Arhgef5	T	C	6: 43,252,119 (GRCm39)	S957P	probably benign	Het
Arsk	G	T	13: 76,239,861 (GRCm39)	T114K	probably damaging	Het
Bpifb2	T	C	2: 153,733,876 (GRCm39)	V406A	probably damaging	Het
Cbr3	C	A	16: 93,480,393 (GRCm39)	Q61K	probably benign	Het
Ccdc73	C	T	2: 104,821,557 (GRCm39)	S502L	probably benign	Het
Cdhr3	A	T	12: 33,098,931 (GRCm39)		probably null	Het
Cep170b	T	A	12: 112,705,719 (GRCm39)	M1159K	possibly damaging	Het
Cep295	A	T	9: 15,244,836 (GRCm39)	S1159T		Het
Cit	C	T	5: 116,107,131 (GRCm39)	R1088W	probably damaging	Het
Col16a1	A	T	4: 129,947,270 (GRCm39)	H205L	unknown	Het
Cstdc4	T	G	16: 36,006,772 (GRCm39)	Y35*	probably null	Het
Dcaf8	A	T	1: 172,013,886 (GRCm39)	D359V	probably benign	Het
Dcstamp	A	G	15: 39,618,422 (GRCm39)	Y277C	probably damaging	Het
Dnah10	A	G	5: 124,832,790 (GRCm39)	K898R	probably benign	Het
Dnah6	T	A	6: 73,037,208 (GRCm39)	T3345S	probably benign	Het
Dpp6	A	T	5: 27,803,815 (GRCm39)	N254Y	probably damaging	Het
F2	A	T	2: 91,460,618 (GRCm39)		probably null	Het
Fam216b	G	C	14: 78,322,504 (GRCm39)	H67D	possibly damaging	Het
Fbxl17	A	C	17: 63,794,967 (GRCm39)		probably null	Het
Gas2	T	A	7: 51,547,026 (GRCm39)	M59K	probably damaging	Het
Glud1	G	A	14: 34,065,664 (GRCm39)	G554D	probably damaging	Het
Gys2	C	T	6: 142,402,138 (GRCm39)	G234R	probably damaging	Het
Ifngr1	A	G	10: 19,485,241 (GRCm39)	I413M	probably benign	Het
Inpp5a	C	T	7: 139,118,153 (GRCm39)	R236C	probably damaging	Het
Kcnip3	A	G	2: 127,323,934 (GRCm39)	S32P	probably benign	Het
Lingo3	T	A	10: 80,670,464 (GRCm39)	T489S	possibly damaging	Het
Lrpprc	A	G	17: 85,079,575 (GRCm39)	L227P	probably damaging	Het
Morn1	A	G	4: 155,213,160 (GRCm39)	Q356R	probably benign	Het
Naxd	A	C	8: 11,561,987 (GRCm39)	K275Q	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nck1	A	T	9: 100,379,790 (GRCm39)	W154R	probably damaging	Het
Or10d5	G	A	9: 39,861,708 (GRCm39)	R120C	probably benign	Het
Or1ad8	T	A	11: 50,898,437 (GRCm39)	C213S	probably damaging	Het
Or5aq6	C	T	2: 86,923,220 (GRCm39)	V174M	possibly damaging	Het
Or7e175	T	C	9: 20,048,571 (GRCm39)	V53A	possibly damaging	Het
Pdxk	C	T	10: 78,289,338 (GRCm39)	V38M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pes1	T	C	11: 3,927,718 (GRCm39)	S482P	probably benign	Het
Pglyrp1	T	A	7: 18,618,657 (GRCm39)	F3I	unknown	Het
Pira13	T	C	7: 3,824,260 (GRCm39)	K631R	unknown	Het
Plce1	T	A	19: 38,761,423 (GRCm39)	F2092I	possibly damaging	Het
Pms1	A	G	1: 53,246,505 (GRCm39)	S345P	probably benign	Het
Pom121l12	C	A	11: 14,550,011 (GRCm39)	P239H	probably damaging	Het
Prdm2	A	G	4: 142,859,018 (GRCm39)	I1424T	probably benign	Het
Prmt6	A	G	3: 110,158,140 (GRCm39)	Y50H	probably damaging	Het
Rbm39	T	C	2: 155,996,195 (GRCm39)	I397V	probably benign	Het
Rnf157	A	G	11: 116,238,307 (GRCm39)	V519A	possibly damaging	Het
Sec23a	T	C	12: 59,053,980 (GRCm39)	E6G	possibly damaging	Het
Shank1	T	C	7: 43,962,748 (GRCm39)		probably null	Het
Slfn3	A	G	11: 83,105,505 (GRCm39)	I378V	probably benign	Het
Smn1	T	A	13: 100,267,303 (GRCm39)		probably null	Het
Snd1	T	C	6: 28,874,975 (GRCm39)	F632S	possibly damaging	Het
Sun5	T	C	2: 153,698,131 (GRCm39)		probably null	Het
Tial1	T	C	7: 128,046,614 (GRCm39)	R209G	probably benign	Het
Trhde	T	C	10: 114,244,598 (GRCm39)	I963V	possibly damaging	Het
Tssc4	G	T	7: 142,623,932 (GRCm39)	R80L	possibly damaging	Het
Ttn	A	T	2: 76,642,852 (GRCm39)	N13261K	probably damaging	Het
Ugdh	A	T	5: 65,581,005 (GRCm39)		probably null	Het
Vmn1r218	A	T	13: 23,321,472 (GRCm39)	E273V	probably benign	Het
Vmn2r92	T	A	17: 18,386,988 (GRCm39)	F109Y	possibly damaging	Het
Zcchc7	A	G	4: 44,931,398 (GRCm39)	S196G	probably benign	Het
Zfp788	T	A	7: 41,298,335 (GRCm39)	C324S	probably damaging	Het
Zfp976	T	C	7: 42,262,959 (GRCm39)	T294A	probably benign	Het

Other mutations in Cpt1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01080:Cpt1c	APN	7	44,610,333 (GRCm39)	missense	probably damaging	0.98
IGL01111:Cpt1c	APN	7	44,614,978 (GRCm39)	missense	possibly damaging	0.90
IGL01153:Cpt1c	APN	7	44,616,092 (GRCm39)	missense	probably damaging	0.99
IGL02232:Cpt1c	APN	7	44,609,580 (GRCm39)	missense	probably damaging	0.99
R0046:Cpt1c	UTSW	7	44,609,256 (GRCm39)	splice site	probably benign
R0046:Cpt1c	UTSW	7	44,609,256 (GRCm39)	splice site	probably benign
R0141:Cpt1c	UTSW	7	44,616,095 (GRCm39)	missense	probably damaging	1.00
R0367:Cpt1c	UTSW	7	44,608,999 (GRCm39)	missense	probably benign
R0749:Cpt1c	UTSW	7	44,612,250 (GRCm39)	missense	probably damaging	1.00
R1384:Cpt1c	UTSW	7	44,610,348 (GRCm39)	splice site	probably benign
R1611:Cpt1c	UTSW	7	44,609,536 (GRCm39)	missense	probably benign	0.03
R3122:Cpt1c	UTSW	7	44,609,345 (GRCm39)	missense	probably damaging	1.00
R4892:Cpt1c	UTSW	7	44,609,012 (GRCm39)	missense	probably benign	0.14
R5175:Cpt1c	UTSW	7	44,620,781 (GRCm39)	missense	probably damaging	1.00
R6029:Cpt1c	UTSW	7	44,614,548 (GRCm39)	missense	probably benign	0.00
R6352:Cpt1c	UTSW	7	44,616,219 (GRCm39)	critical splice donor site	probably null
R6856:Cpt1c	UTSW	7	44,609,342 (GRCm39)	missense	probably damaging	1.00
R7621:Cpt1c	UTSW	7	44,616,516 (GRCm39)	missense	probably damaging	1.00
R7749:Cpt1c	UTSW	7	44,611,689 (GRCm39)	missense	probably benign	0.16
R7883:Cpt1c	UTSW	7	44,613,438 (GRCm39)	splice site	probably null
R9165:Cpt1c	UTSW	7	44,608,925 (GRCm39)	makesense	probably null
R9225:Cpt1c	UTSW	7	44,610,213 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AACACCTTCCATCCTGAGGGAG -3'
(R):5'- GGGGAAAACGCAATCACCTTC -3'

Sequencing Primer
(F):5'- CCACAGTCTTACAGGAGA -3'
(R):5'- TCACCTTCCATATCTCCAGCAAG -3'

Posted On

2020-07-13