Incidental Mutation 'R6892:Cpt1a'
ID 538137
Institutional Source Beutler Lab
Gene Symbol Cpt1a
Ensembl Gene ENSMUSG00000024900
Gene Name carnitine palmitoyltransferase 1a, liver
Synonyms Cpt1, CPTI, L-CPT I
MMRRC Submission 044986-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6892 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 3372334-3435733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3421660 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 481 (V481M)
Ref Sequence ENSEMBL: ENSMUSP00000025835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025835]
AlphaFold P97742
Predicted Effect probably benign
Transcript: ENSMUST00000025835
AA Change: V481M

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: V481M

DomainStartEndE-ValueType
Pfam:CPT_N 1 47 2.3e-30 PFAM
transmembrane domain 49 71 N/A INTRINSIC
transmembrane domain 104 126 N/A INTRINSIC
Pfam:Carn_acyltransf 171 762 6e-186 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.6%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930442H23Rik C A 10: 81,018,978 (GRCm39) probably benign Het
4933421I07Rik T C 7: 42,095,831 (GRCm39) Q139R probably benign Het
A930002H24Rik C T 17: 64,170,759 (GRCm39) V10M unknown Het
Acvr2a T A 2: 48,787,087 (GRCm39) L394Q probably damaging Het
Ano6 T C 15: 95,865,505 (GRCm39) Y830H probably damaging Het
Atp8b4 T A 2: 126,184,922 (GRCm39) I914F possibly damaging Het
Bltp3b G A 10: 89,640,985 (GRCm39) V719I probably benign Het
Cab39 A G 1: 85,776,098 (GRCm39) D265G probably damaging Het
Capn5 A T 7: 97,785,148 (GRCm39) W109R probably damaging Het
Cdk18 G T 1: 132,049,848 (GRCm39) T44K probably benign Het
Cdt1 T A 8: 123,296,951 (GRCm39) N248K probably damaging Het
Cpa4 G T 6: 30,583,628 (GRCm39) R248L probably benign Het
Cyp3a11 G A 5: 145,797,258 (GRCm39) L374F probably damaging Het
Dcdc2a A G 13: 25,240,443 (GRCm39) N64D probably damaging Het
Dmxl1 G A 18: 50,053,969 (GRCm39) R2525Q probably damaging Het
Dscaml1 G A 9: 45,595,128 (GRCm39) V744M probably damaging Het
Dync1h1 G A 12: 110,605,335 (GRCm39) E2391K probably benign Het
Ezh1 A T 11: 101,090,187 (GRCm39) Y522* probably null Het
Fzd3 G C 14: 65,447,330 (GRCm39) A533G possibly damaging Het
Gm14403 T G 2: 177,201,040 (GRCm39) C329G probably damaging Het
Gm17067 A C 7: 42,360,099 (GRCm39) probably null Het
Gm38119 A G 3: 92,645,529 (GRCm39) C22R unknown Het
Grep1 A G 17: 23,931,328 (GRCm39) L193P probably damaging Het
Gtf3c3 A G 1: 54,455,100 (GRCm39) S588P probably benign Het
Ift140 A G 17: 25,239,520 (GRCm39) E59G possibly damaging Het
Ints1 A T 5: 139,753,583 (GRCm39) M683K probably damaging Het
Iws1 A G 18: 32,219,327 (GRCm39) M470V probably damaging Het
Mptx1 A G 1: 174,159,831 (GRCm39) R46G probably benign Het
Nhsl1 C T 10: 18,400,091 (GRCm39) T439I probably damaging Het
Or10a49 A G 7: 108,467,722 (GRCm39) L213P probably damaging Het
Peg3 C T 7: 6,711,898 (GRCm39) S1108N possibly damaging Het
Pgm1 A G 4: 99,786,905 (GRCm39) E48G probably benign Het
Pkhd1 G A 1: 20,593,739 (GRCm39) T1458I probably damaging Het
Polr1a A T 6: 71,941,696 (GRCm39) D1068V possibly damaging Het
Ptprq T C 10: 107,411,865 (GRCm39) T1834A probably benign Het
Rapgef1 T C 2: 29,589,852 (GRCm39) probably null Het
Rgl1 A T 1: 152,415,691 (GRCm39) D409E probably benign Het
Rgsl1 G T 1: 153,697,245 (GRCm39) Y558* probably null Het
Rock1 C T 18: 10,122,612 (GRCm39) R403H probably benign Het
Scn11a T A 9: 119,636,035 (GRCm39) D304V possibly damaging Het
Sdk1 A T 5: 142,032,053 (GRCm39) I1043F probably benign Het
Sgms2 A G 3: 131,135,803 (GRCm39) Y24H probably benign Het
Sppl2a A G 2: 126,755,495 (GRCm39) I372T probably damaging Het
Sptbn1 A G 11: 30,092,187 (GRCm39) M526T probably benign Het
Stxbp5l A T 16: 37,008,991 (GRCm39) S683T possibly damaging Het
Syk A T 13: 52,786,934 (GRCm39) R332S probably benign Het
Syne2 T A 12: 76,009,302 (GRCm39) V2401E probably damaging Het
Tarm1 T C 7: 3,546,006 (GRCm39) Y87C probably damaging Het
Tbc1d22b A G 17: 29,814,864 (GRCm39) K378E possibly damaging Het
Tcte1 A G 17: 45,844,083 (GRCm39) T20A probably benign Het
Tor1aip2 A T 1: 155,940,927 (GRCm39) Y411F possibly damaging Het
Trim43c T A 9: 88,726,977 (GRCm39) M267K probably benign Het
Ubr2 T G 17: 47,245,034 (GRCm39) Y1664S probably damaging Het
Vmn1r41 C A 6: 89,724,163 (GRCm39) Q235K possibly damaging Het
Wdr17 T C 8: 55,126,631 (GRCm39) T401A probably damaging Het
Zfp454 A G 11: 50,764,025 (GRCm39) L469P probably damaging Het
Other mutations in Cpt1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00785:Cpt1a APN 19 3,416,389 (GRCm39) missense possibly damaging 0.85
allosouris UTSW 19 3,428,472 (GRCm39) missense probably damaging 1.00
Tyrannosouris UTSW 19 3,412,156 (GRCm39) missense probably damaging 1.00
R0029:Cpt1a UTSW 19 3,431,674 (GRCm39) missense probably benign 0.04
R0029:Cpt1a UTSW 19 3,431,674 (GRCm39) missense probably benign 0.04
R0305:Cpt1a UTSW 19 3,428,455 (GRCm39) missense probably benign
R0963:Cpt1a UTSW 19 3,431,634 (GRCm39) missense probably damaging 1.00
R1511:Cpt1a UTSW 19 3,415,788 (GRCm39) splice site probably benign
R2102:Cpt1a UTSW 19 3,421,585 (GRCm39) missense probably benign 0.25
R3034:Cpt1a UTSW 19 3,428,390 (GRCm39) missense probably damaging 1.00
R3153:Cpt1a UTSW 19 3,406,430 (GRCm39) missense probably damaging 0.99
R5195:Cpt1a UTSW 19 3,433,800 (GRCm39) missense possibly damaging 0.88
R5391:Cpt1a UTSW 19 3,399,260 (GRCm39) missense probably damaging 0.98
R5964:Cpt1a UTSW 19 3,415,760 (GRCm39) missense possibly damaging 0.80
R6031:Cpt1a UTSW 19 3,421,556 (GRCm39) splice site probably null
R6031:Cpt1a UTSW 19 3,421,556 (GRCm39) splice site probably null
R6246:Cpt1a UTSW 19 3,426,550 (GRCm39) missense probably damaging 0.99
R6339:Cpt1a UTSW 19 3,412,152 (GRCm39) missense probably benign 0.27
R6427:Cpt1a UTSW 19 3,412,156 (GRCm39) missense probably damaging 1.00
R6535:Cpt1a UTSW 19 3,415,788 (GRCm39) splice site probably null
R6621:Cpt1a UTSW 19 3,428,472 (GRCm39) missense probably damaging 1.00
R7142:Cpt1a UTSW 19 3,425,100 (GRCm39) missense probably benign 0.00
R7385:Cpt1a UTSW 19 3,430,155 (GRCm39) missense probably damaging 0.99
R7908:Cpt1a UTSW 19 3,412,202 (GRCm39) missense probably benign 0.26
R8098:Cpt1a UTSW 19 3,420,849 (GRCm39) missense probably benign
R8362:Cpt1a UTSW 19 3,420,744 (GRCm39) nonsense probably null
R8444:Cpt1a UTSW 19 3,431,981 (GRCm39) missense probably benign
R8854:Cpt1a UTSW 19 3,406,327 (GRCm39) missense probably benign 0.00
R8918:Cpt1a UTSW 19 3,408,258 (GRCm39) missense
R8951:Cpt1a UTSW 19 3,412,211 (GRCm39) missense probably benign 0.14
R9217:Cpt1a UTSW 19 3,425,111 (GRCm39) missense probably benign 0.00
R9295:Cpt1a UTSW 19 3,428,441 (GRCm39) missense probably damaging 0.99
R9495:Cpt1a UTSW 19 3,433,795 (GRCm39) missense probably benign
R9560:Cpt1a UTSW 19 3,402,531 (GRCm39) missense possibly damaging 0.89
R9735:Cpt1a UTSW 19 3,420,825 (GRCm39) missense probably benign
X0019:Cpt1a UTSW 19 3,416,348 (GRCm39) missense probably benign 0.01
Z1177:Cpt1a UTSW 19 3,420,727 (GRCm39) missense probably damaging 1.00
Z1177:Cpt1a UTSW 19 3,416,370 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCTGCAGAAAGAAGCACC -3'
(R):5'- AGGACACTGCCATTTTATAAGCC -3'

Sequencing Primer
(F):5'- AGAAGCACCCATGTAGCTTTTGG -3'
(R):5'- TCTGGGCAACACAGTGAGTTC -3'
Posted On 2018-11-06