Incidental Mutation 'R5122:Cpt1b'
ID 393368
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 042710-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5122 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 89300608-89310065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89308226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 160 (S160P)
Ref Sequence ENSEMBL: ENSMUSP00000104936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023289] [ENSMUST00000052315] [ENSMUST00000109313] [ENSMUST00000171666] [ENSMUST00000170460] [ENSMUST00000168376]
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 benign
Transcript: ENSMUST00000109313
AA Change: S160P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: S160P

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 noncoding transcript
Transcript: ENSMUST00000165623
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171140
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166267
Predicted Effect probably benign
Transcript: ENSMUST00000168879
SMART Domains Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 3 148 3.5e-34 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: 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: ENSMUST00000168376
SMART Domains Protein: ENSMUSP00000129786
Gene: ENSMUSG00000078937

DomainStartEndE-ValueType
PDB:2LE3|A 1 42 1e-21 PDB
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan T C 7: 78,750,409 (GRCm39) S1727P probably damaging Het
Actr8 A T 14: 29,704,672 (GRCm39) K57N possibly damaging Het
Bcan G T 3: 87,901,514 (GRCm39) S396Y probably damaging Het
Bltp1 A G 3: 37,088,906 (GRCm39) probably null Het
Bmp2k A G 5: 97,234,874 (GRCm39) probably benign Het
Cd274 A G 19: 29,357,965 (GRCm39) H219R possibly damaging Het
Cdc16 A T 8: 13,814,570 (GRCm39) Y118F probably damaging Het
Cdc23 C A 18: 34,784,742 (GRCm39) V7L unknown Het
Chchd3 T C 6: 32,945,240 (GRCm39) R89G probably benign Het
Clstn2 C T 9: 97,343,474 (GRCm39) V658M probably damaging Het
Crym T C 7: 119,794,718 (GRCm39) N167S probably benign Het
Dhx16 T A 17: 36,194,202 (GRCm39) Y438N probably damaging Het
Dnah12 A G 14: 26,439,155 (GRCm39) R536G probably benign Het
Dnajc11 A G 4: 152,061,454 (GRCm39) D382G possibly damaging Het
Dync1h1 G A 12: 110,596,114 (GRCm39) G1547D probably damaging Het
Eml3 T A 19: 8,915,060 (GRCm39) probably null Het
Ep400 G A 5: 110,816,036 (GRCm39) P2799S probably damaging Het
Ephb6 T C 6: 41,590,338 (GRCm39) V30A probably benign Het
Fam53b T A 7: 132,380,991 (GRCm39) probably benign Het
Fcrl1 A G 3: 87,293,081 (GRCm39) K246R probably benign Het
Focad G A 4: 88,325,602 (GRCm39) probably null Het
Glipr1l2 T C 10: 111,942,961 (GRCm39) I272T possibly damaging Het
Gm8104 A G 14: 42,966,550 (GRCm39) I101V probably benign Het
Grm5 A G 7: 87,724,028 (GRCm39) I773V probably damaging Het
Hyal1 A T 9: 107,455,268 (GRCm39) T193S probably benign Het
Igkv10-94 C A 6: 68,681,655 (GRCm39) G62* probably null Het
Itsn1 A G 16: 91,690,732 (GRCm39) probably benign Het
Kank4 A G 4: 98,644,804 (GRCm39) S983P probably damaging Het
Krtap16-1 C A 11: 99,876,523 (GRCm39) V294F probably damaging Het
Lama3 T G 18: 12,672,823 (GRCm39) V866G possibly damaging Het
Lrba C T 3: 86,256,461 (GRCm39) R1268* probably null Het
Lrriq1 C T 10: 103,023,314 (GRCm39) V984I probably damaging Het
Macf1 A C 4: 123,346,085 (GRCm39) V4136G probably damaging Het
Mdn1 A T 4: 32,670,593 (GRCm39) E419D probably damaging Het
Nedd4l A G 18: 65,324,518 (GRCm39) Y473C probably damaging Het
Nod2 G T 8: 89,390,748 (GRCm39) D330Y probably damaging Het
Nt5c2 C T 19: 46,878,360 (GRCm39) C458Y probably damaging Het
Numa1 T C 7: 101,662,976 (GRCm39) I681T probably damaging Het
Or10a5 C A 7: 106,636,055 (GRCm39) S231* probably null Het
Papolg C T 11: 23,817,501 (GRCm39) probably null Het
Parn A G 16: 13,472,311 (GRCm39) probably null Het
Pgap2 T C 7: 101,880,598 (GRCm39) F42S probably damaging Het
Phf11d A T 14: 59,590,793 (GRCm39) M188K possibly damaging Het
Pofut2 G C 10: 77,104,399 (GRCm39) R392P probably damaging Het
Prpf18 T C 2: 4,648,520 (GRCm39) D102G probably damaging Het
Rreb1 T A 13: 38,114,744 (GRCm39) I701N probably benign Het
Slc26a5 T C 5: 22,052,194 (GRCm39) K45R probably damaging Het
Slc8a3 A G 12: 81,361,032 (GRCm39) probably null Het
Slf1 T A 13: 77,198,106 (GRCm39) M723L probably benign Het
Spata31e5 A G 1: 28,819,141 (GRCm39) S47P probably benign Het
Sra1 T C 18: 36,800,647 (GRCm39) T187A probably benign Het
Stk17b A C 1: 53,815,717 (GRCm39) N27K probably damaging Het
Tbc1d9 T A 8: 83,963,172 (GRCm39) Y295N probably damaging Het
Tubgcp6 A G 15: 89,000,306 (GRCm39) V353A probably damaging Het
Unc80 A T 1: 66,718,749 (GRCm39) T2991S possibly damaging Het
Urb1 G A 16: 90,548,983 (GRCm39) R2242* probably null Het
Vasp T C 7: 18,998,697 (GRCm39) N20S probably benign Het
Zfp263 A G 16: 3,567,719 (GRCm39) H390R 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
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
R5710:Cpt1b UTSW 15 89,309,409 (GRCm39) missense probably damaging 1.00
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'- ATAAGGGCCGCACAGAATCC -3'
(R):5'- GAATCTCACTTGGGGCTCTGAG -3'

Sequencing Primer
(F):5'- TCCAGCCAAGTAATTATCATGAAGGG -3'
(R):5'- GCTCTGAGCAGGAAGGAAG -3'
Posted On 2016-06-15