Incidental Mutation 'R2102:Cpt1a'
ID 230638
Institutional Source Beutler Lab
Gene Symbol Cpt1a
Ensembl Gene ENSMUSG00000024900
Gene Name carnitine palmitoyltransferase 1a, liver
Synonyms Cpt1, CPTI, L-CPT I
MMRRC Submission 040106-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2102 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 3372334-3435733 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3421585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 456 (S456P)
Ref Sequence ENSEMBL: ENSMUSP00000025835 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025835]
AlphaFold P97742
Predicted Effect probably benign
Transcript: ENSMUST00000025835
AA Change: S456P

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: S456P

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,770,934 (GRCm39) L41P probably damaging Het
Abca8a G T 11: 109,958,878 (GRCm39) P749T probably damaging Het
Acad8 A T 9: 26,896,861 (GRCm39) Y199* probably null Het
Acot12 A T 13: 91,908,096 (GRCm39) I93L probably benign Het
Acsbg3 T A 17: 57,191,949 (GRCm39) Y542* probably null Het
Actn1 C A 12: 80,230,291 (GRCm39) R321L probably benign Het
Ap3s1 A G 18: 46,887,469 (GRCm39) E34G possibly damaging Het
Armh4 A G 14: 50,011,459 (GRCm39) Y83H probably damaging Het
Atp5f1a T C 18: 77,870,017 (GRCm39) S533P probably damaging Het
Bcorl1 T C X: 47,458,081 (GRCm39) V538A probably benign Het
Cdhr4 A G 9: 107,875,206 (GRCm39) T689A probably damaging Het
Cdk19 A T 10: 40,355,726 (GRCm39) probably benign Het
Cobll1 G T 2: 64,928,554 (GRCm39) P923Q probably damaging Het
Cst11 T C 2: 148,613,160 (GRCm39) Y55C probably damaging Het
Ctif T G 18: 75,654,452 (GRCm39) D358A probably benign Het
Cyp2d34 T G 15: 82,500,974 (GRCm39) E386A probably benign Het
Dcxr A G 11: 120,617,133 (GRCm39) F104L probably benign Het
Dmbt1 G T 7: 130,703,762 (GRCm39) W1107C probably damaging Het
Dsg1a A T 18: 20,466,830 (GRCm39) I567F probably damaging Het
Ednrb T A 14: 104,058,350 (GRCm39) R318* probably null Het
Exd2 T C 12: 80,527,377 (GRCm39) I36T possibly damaging Het
Fam83b A T 9: 76,399,987 (GRCm39) I372N probably damaging Het
Fbh1 A G 2: 11,763,100 (GRCm39) V518A probably benign Het
Fkbp5 T C 17: 28,625,162 (GRCm39) E308G possibly damaging Het
Foxl2 A C 9: 98,838,282 (GRCm39) Y190S probably damaging Het
Gab3 TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC X: 74,043,585 (GRCm39) probably benign Het
Galnt17 C T 5: 131,114,831 (GRCm39) R223Q probably damaging Het
Gm14496 G A 2: 181,633,127 (GRCm39) D37N possibly damaging Het
Gpr82 T C X: 13,532,274 (GRCm39) V274A probably benign Het
Hsp90aa1 T C 12: 110,660,566 (GRCm39) N292S probably damaging Het
Ints1 C T 5: 139,741,754 (GRCm39) V1826M possibly damaging Het
Itgb4 A G 11: 115,896,561 (GRCm39) D1440G probably benign Het
Kdm3b A G 18: 34,963,200 (GRCm39) D1552G probably damaging Het
Kel G A 6: 41,663,418 (GRCm39) T702I possibly damaging Het
Klf3 T C 5: 64,979,266 (GRCm39) V36A probably damaging Het
Klhl23 A T 2: 69,659,228 (GRCm39) I418F probably damaging Het
Kndc1 A T 7: 139,510,674 (GRCm39) I1329L probably benign Het
Krtap2-4 T C 11: 99,505,606 (GRCm39) probably benign Het
Krtap9-5 T A 11: 99,840,270 (GRCm39) C324S unknown Het
Lepr T C 4: 101,630,178 (GRCm39) V631A possibly damaging Het
Lifr T C 15: 7,216,404 (GRCm39) I793T probably damaging Het
Mcoln1 G A 8: 3,561,731 (GRCm39) R427H probably damaging Het
Mgat5b G A 11: 116,810,255 (GRCm39) probably benign Het
Mmp12 G A 9: 7,349,802 (GRCm39) V78M probably damaging Het
Mrgprb8 T A 7: 48,038,634 (GRCm39) L102M possibly damaging Het
Mybphl A G 3: 108,282,949 (GRCm39) T246A possibly damaging Het
Myo7b A T 18: 32,133,031 (GRCm39) F439L probably damaging Het
Myom1 A T 17: 71,408,024 (GRCm39) D1088V probably damaging Het
Nrcam T C 12: 44,623,471 (GRCm39) F1004S probably benign Het
Palld A T 8: 61,986,467 (GRCm39) M788K possibly damaging Het
Pappa T A 4: 65,234,465 (GRCm39) Y1423* probably null Het
Pfkm A G 15: 98,027,171 (GRCm39) K615E probably damaging Het
Pkd1l2 G T 8: 117,808,208 (GRCm39) D105E probably damaging Het
Plekha5 G A 6: 140,518,603 (GRCm39) A297T probably damaging Het
Plxnb1 T A 9: 108,944,810 (GRCm39) M2051K probably damaging Het
Ppp6r2 A G 15: 89,162,949 (GRCm39) T524A probably damaging Het
Psg26 T C 7: 18,209,067 (GRCm39) E447G probably damaging Het
Rab3gap2 A G 1: 185,014,586 (GRCm39) D1225G probably benign Het
Rep15 A G 6: 146,934,403 (GRCm39) probably null Het
Rgl2 G A 17: 34,152,314 (GRCm39) probably null Het
Rpl7a T G 2: 26,801,473 (GRCm39) V55G possibly damaging Het
Rtp1 A T 16: 23,250,108 (GRCm39) I158F probably benign Het
Scaper A T 9: 55,819,334 (GRCm39) V127E probably benign Het
Sele T A 1: 163,881,395 (GRCm39) C501S probably damaging Het
Serpina11 C T 12: 103,949,104 (GRCm39) V358I probably benign Het
Slc16a4 A G 3: 107,211,819 (GRCm39) probably null Het
Slco6c1 T C 1: 97,055,656 (GRCm39) I82V probably benign Het
Smarca5 T C 8: 81,431,304 (GRCm39) E971G probably damaging Het
Smr2 T C 5: 88,256,595 (GRCm39) L91P probably damaging Het
Spata31f3 T A 4: 42,868,558 (GRCm39) H355L probably benign Het
Spopfm2 A T 3: 94,082,973 (GRCm39) C279* probably null Het
Srrm2 A G 17: 24,036,722 (GRCm39) probably benign Het
Sting1 A T 18: 35,868,290 (GRCm39) M270K probably damaging Het
Syne1 A G 10: 5,006,514 (GRCm39) W7980R probably damaging Het
Syne2 A G 12: 76,074,853 (GRCm39) T4598A probably benign Het
Tmem171 A T 13: 98,828,851 (GRCm39) F100I probably damaging Het
Tnfrsf10b A G 14: 70,013,546 (GRCm39) T159A probably benign Het
Tph1 A T 7: 46,309,834 (GRCm39) probably null Het
Trim46 A T 3: 89,142,504 (GRCm39) I638N probably damaging Het
Ubl7 G A 9: 57,827,825 (GRCm39) D171N probably damaging Het
Utp20 A G 10: 88,608,779 (GRCm39) Y1514H probably damaging Het
Vmn2r81 A G 10: 79,129,334 (GRCm39) I742V probably damaging Het
Xrcc2 A T 5: 25,897,505 (GRCm39) V148E probably damaging Het
Zbed3 A G 13: 95,472,615 (GRCm39) D13G possibly damaging Het
Zdhhc25 T A 15: 88,484,962 (GRCm39) L99Q probably benign 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
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
R6892:Cpt1a UTSW 19 3,421,660 (GRCm39) missense probably benign 0.00
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'- AGTAGTCTACACGCCTCTGGAC -3'
(R):5'- ACTGCAGAGTTCAAGTGGG -3'

Sequencing Primer
(F):5'- GGGCTCACACACATGCTATATTG -3'
(R):5'- AGAGTTCAAGTGGGCCTGC -3'
Posted On 2014-09-18