Incidental Mutation 'R4574:Cpt1b'
ID 343495
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 041797-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4574 (G1)
Quality Score 212
Status Validated
Chromosome 15
Chromosomal Location 89300608-89310065 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 89308247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000109313
SMART Domains Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937

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

DomainStartEndE-ValueType
Pfam:Carn_acyltransf 3 148 3.5e-34 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Adamts9 G A 6: 92,856,940 (GRCm39) R319* probably null Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pnldc1 T C 17: 13,111,669 (GRCm39) H346R probably benign Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Steap3 G T 1: 120,169,186 (GRCm39) D370E probably benign Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Tsfm A C 10: 126,864,242 (GRCm39) Y158D probably damaging Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G possibly 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
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
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 2015-09-24