Incidental Mutation 'R5710:Cpt1b'
ID 452189
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 044396-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5710 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 89300608-89310065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89309409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 41 (K41N)
Ref Sequence ENSEMBL: ENSMUSP00000129786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000168376] [ENSMUST00000170460] [ENSMUST00000171666] [ENSMUST00000168646]
AlphaFold Q924X2
Predicted Effect probably benign
Transcript: ENSMUST00000023289
SMART Domains Protein: ENSMUSP00000023289
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000109313
AA Change: K41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: K41N

DomainStartEndE-ValueType
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: ENSMUST00000115278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165419
Predicted Effect probably damaging
Transcript: ENSMUST00000168376
AA Change: K41N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937
AA Change: K41N

DomainStartEndE-ValueType
PDB:2LE3|A 1 42 1e-21 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166267
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171140
Predicted Effect probably benign
Transcript: ENSMUST00000170460
SMART Domains Protein: ENSMUSP00000128026
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 176 1e-65 PFAM
Pfam:APH 8 176 6.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171666
SMART Domains Protein: ENSMUSP00000127191
Gene: ENSMUSG00000022617

DomainStartEndE-ValueType
Pfam:Choline_kinase 1 142 2.5e-51 PFAM
Pfam:APH 1 149 6.9e-14 PFAM
Pfam:EcKinase 2 116 8.8e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168646
Predicted Effect probably benign
Transcript: ENSMUST00000168879
SMART Domains Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 3 148 3.5e-34 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 G A 14: 68,847,357 (GRCm39) H713Y probably damaging Het
Adam39 A T 8: 41,277,684 (GRCm39) Y25F probably benign Het
Ankfn1 T C 11: 89,394,751 (GRCm39) N278S probably benign Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Arhgap18 G A 10: 26,736,729 (GRCm39) probably null Het
Bcl2a1b A C 9: 89,081,732 (GRCm39) Q107P probably benign Het
Btbd9 A G 17: 30,447,842 (GRCm39) S525P probably benign Het
Cabin1 A G 10: 75,482,852 (GRCm39) S2093P probably benign Het
Ccnd1 T C 7: 144,491,781 (GRCm39) D86G possibly damaging Het
Chdh C A 14: 29,756,584 (GRCm39) Q337K probably damaging Het
Cldn9 T C 17: 23,902,421 (GRCm39) D68G probably damaging Het
Dsg1c T C 18: 20,405,408 (GRCm39) Y274H probably benign Het
Eif2ak3 T A 6: 70,860,717 (GRCm39) I431N probably damaging Het
Erbb2 T A 11: 98,317,906 (GRCm39) W416R probably damaging Het
Fgd3 T A 13: 49,450,205 (GRCm39) I15F probably benign Het
Fkbp14 T A 6: 54,566,255 (GRCm39) probably null Het
Havcr1 T C 11: 46,643,353 (GRCm39) V91A probably damaging Het
Kmt2d T C 15: 98,751,987 (GRCm39) probably benign Het
Lipc T A 9: 70,719,979 (GRCm39) I343F probably benign Het
Madd T C 2: 90,984,821 (GRCm39) T1331A probably damaging Het
Mcm5 A C 8: 75,847,538 (GRCm39) D445A probably damaging Het
Mdga2 C A 12: 66,553,556 (GRCm39) L98F probably damaging Het
Micall1 C A 15: 79,011,290 (GRCm39) H553Q probably damaging Het
Mxd4 A G 5: 34,344,671 (GRCm39) probably null Het
Peg10 CC CCCCATCAGGC 6: 4,756,350 (GRCm39) probably benign Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Prtg T A 9: 72,716,922 (GRCm39) Y88N probably damaging Het
Saxo1 C T 4: 86,363,272 (GRCm39) V404I possibly damaging Het
Sclt1 C A 3: 41,618,398 (GRCm39) E14* probably null Het
Shfl G T 9: 20,784,192 (GRCm39) R138L possibly damaging Het
Strn G A 17: 78,995,028 (GRCm39) L162F probably damaging Het
T T C 17: 8,660,474 (GRCm39) S221P probably benign Het
Tbl1xr1 A G 3: 22,264,578 (GRCm39) D511G probably damaging Het
Ttc7 A C 17: 87,597,674 (GRCm39) N82T probably damaging Het
Ttn C T 2: 76,747,786 (GRCm39) R4421H possibly damaging Het
Uaca T A 9: 60,779,093 (GRCm39) L1158Q probably damaging Het
Vdr T C 15: 97,757,008 (GRCm39) Y288C probably damaging Het
Vdr A T 15: 97,765,089 (GRCm39) S217T probably benign Het
Zhx2 T A 15: 57,684,866 (GRCm39) Y78* probably null Het
Znhit1 C T 5: 137,011,456 (GRCm39) C119Y probably damaging Het
Other mutations in Cpt1b
AlleleSourceChrCoordTypePredicted EffectPPH 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
R4737:Cpt1b UTSW 15 89,305,609 (GRCm39) missense probably benign 0.03
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
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'- AAAATATCACTAGGCCCCTGGGTAG -3'
(R):5'- ACACTAAGCACCTTCTGGC -3'

Sequencing Primer
(F):5'- ACTAGGCCCCTGGGTAGTCTTG -3'
(R):5'- GCCCTGTTAGGTGCTGAATAAACC -3'
Posted On 2017-01-03