Incidental Mutation 'R1384:Cpt1c'
ID 163162
Institutional Source Beutler Lab
Gene Symbol Cpt1c
Ensembl Gene ENSMUSG00000007783
Gene Name carnitine palmitoyltransferase 1c
Synonyms CPT I-C, 9630004I06Rik
MMRRC Submission 039446-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1384 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44608796-44624275 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 44610348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063761] [ENSMUST00000080233] [ENSMUST00000120929] [ENSMUST00000212836]
AlphaFold Q8BGD5
Predicted Effect probably benign
Transcript: ENSMUST00000063761
SMART Domains Protein: ENSMUSP00000069539
Gene: ENSMUSG00000007783

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:TSKS 26 525 5.7e-281 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120929
SMART Domains Protein: ENSMUSP00000112673
Gene: ENSMUSG00000059891

DomainStartEndE-ValueType
Pfam:TSKS 26 585 8.1e-297 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208475
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211901
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212217
Predicted Effect probably benign
Transcript: ENSMUST00000212836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212890
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 91.1%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930408O17Rik G A 12: 104,837,451 (GRCm39) noncoding transcript Het
A930033H14Rik A G 10: 69,048,191 (GRCm39) probably benign Het
Abcf3 G A 16: 20,378,053 (GRCm39) G522R probably damaging Het
Abi3bp A G 16: 56,394,862 (GRCm39) Y190C probably damaging Het
Alg10b A G 15: 90,111,785 (GRCm39) K210E possibly damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
C9 G A 15: 6,488,415 (GRCm39) V90I probably benign Het
Cacna1s A G 1: 136,022,709 (GRCm39) I634V probably benign Het
Catip A G 1: 74,403,522 (GRCm39) D153G probably benign Het
Cyp2c23 A G 19: 44,002,102 (GRCm39) S296P probably damaging Het
Cyp2d41-ps G A 15: 82,663,718 (GRCm39) noncoding transcript Het
Edc4 T A 8: 106,619,014 (GRCm39) I1327N probably damaging Het
Fbxl18 G A 5: 142,871,978 (GRCm39) A419V probably damaging Het
Filip1l A G 16: 57,391,652 (GRCm39) K509E possibly damaging Het
Golga4 A G 9: 118,394,719 (GRCm39) E96G probably damaging Het
Grid2ip T G 5: 143,371,851 (GRCm39) probably null Het
Gucy1a2 A C 9: 3,759,620 (GRCm39) E475D probably damaging Het
Hipk1 A G 3: 103,666,090 (GRCm39) probably benign Het
Ica1 G A 6: 8,742,262 (GRCm39) Q124* probably null Het
Igsf3 T C 3: 101,358,612 (GRCm39) probably null Het
Matn2 A G 15: 34,409,956 (GRCm39) E462G probably benign Het
Men1 T C 19: 6,389,921 (GRCm39) S464P probably benign Het
Mrgpra2b T A 7: 47,113,742 (GRCm39) E330V probably damaging Het
Myoz2 A T 3: 122,819,765 (GRCm39) S65T probably damaging Het
Nckap1 A G 2: 80,364,014 (GRCm39) M492T possibly damaging Het
Nhsl1 A T 10: 18,284,261 (GRCm39) K67N probably null Het
Nostrin A G 2: 69,019,406 (GRCm39) R484G probably benign Het
Or8g22 T A 9: 38,958,200 (GRCm39) I172F possibly damaging Het
Otog T A 7: 45,923,119 (GRCm39) probably benign Het
P2rx5 A G 11: 73,058,716 (GRCm39) Y300C probably damaging Het
Pars2 T C 4: 106,510,913 (GRCm39) F232L possibly damaging Het
Pi4ka A G 16: 17,115,401 (GRCm39) probably benign Het
Pld3 A G 7: 27,237,082 (GRCm39) S266P probably benign Het
Pole G A 5: 110,471,530 (GRCm39) V1425M possibly damaging Het
Prss43 A G 9: 110,656,510 (GRCm39) I66V probably benign Het
Rtn4 A T 11: 29,686,437 (GRCm39) N264I probably damaging Het
Slc45a2 A G 15: 11,025,832 (GRCm39) Y394C probably benign Het
Speer4f2 A T 5: 17,579,447 (GRCm39) N82I probably damaging Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Strip1 T C 3: 107,534,155 (GRCm39) S160G probably benign Het
Tbx2 A G 11: 85,724,318 (GRCm39) K129R probably benign Het
Tfr2 T C 5: 137,585,082 (GRCm39) probably benign Het
Thap12 T C 7: 98,352,645 (GRCm39) S17P probably damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tspear T C 10: 77,702,166 (GRCm39) F200L probably benign Het
Tspyl5 T A 15: 33,687,526 (GRCm39) R140W possibly damaging Het
Ttn T C 2: 76,606,002 (GRCm39) D18236G probably damaging Het
Upf2 G A 2: 5,965,800 (GRCm39) R140Q unknown Het
Vps4a T A 8: 107,763,276 (GRCm39) I10N possibly damaging Het
Other mutations in Cpt1c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R8178:Cpt1c UTSW 7 44,609,077 (GRCm39) missense probably damaging 0.99
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'- ACGTGGCTGTCTCTACACGCTC -3'
(R):5'- GTGACACCGTGTGACCATGACC -3'

Sequencing Primer
(F):5'- AGCGTTTTTCCTGACCTGG -3'
(R):5'- tcattccttgctgtgtgacc -3'
Posted On 2014-03-17