Incidental Mutation 'R8052:Acadl'
ID 619081
Institutional Source Beutler Lab
Gene Symbol Acadl
Ensembl Gene ENSMUSG00000026003
Gene Name acyl-Coenzyme A dehydrogenase, long-chain
Synonyms C79855, LCAD
MMRRC Submission 067489-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8052 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 66869998-66902436 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 66892337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 162 (T162K)
Ref Sequence ENSEMBL: ENSMUSP00000027153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027153]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000027153
AA Change: T162K

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000027153
Gene: ENSMUSG00000026003
AA Change: T162K

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 54 165 1.3e-33 PFAM
Pfam:Acyl-CoA_dh_M 169 266 9.2e-29 PFAM
Pfam:Acyl-CoA_dh_1 278 427 5.1e-44 PFAM
Pfam:Acyl-CoA_dh_2 293 416 3.4e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a homotetrameric mitochondrial flavoprotein and is a member of the acyl-CoA dehydrogenase family. Members of this family catalyze the first step of fatty acid beta-oxidation, forming a C2-C3 trans-double bond in a FAD-dependent reaction. As beta-oxidation cycles through its four steps, each member of the acyl-CoA dehydrogenase family works at an optimum fatty acid chain-length. This enzyme has its optimum length between C12- and C16-acylCoA. In mice, deficiency of this gene can cause sudden death, cardiomyopathy as well as fasting and cold intolerance. [provided by RefSeq, Nov 2012]
PHENOTYPE: Homozygous mutation of this gene results in reduced litter size, sudden death between 2-14 weeks of age, reduced serum glucose levels, lipid accumulation in the liver and heart, and cardiomyopathy. Heterozygous mutant animals exhibit reduced litter size. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 T C 2: 22,843,555 (GRCm39) T297A probably benign Het
Aldoart2 A T 12: 55,612,536 (GRCm39) I154F probably damaging Het
Alkbh8 G A 9: 3,385,478 (GRCm39) R625H probably damaging Het
Ankrd31 T A 13: 96,969,036 (GRCm39) V891E probably benign Het
Aopep G A 13: 63,216,065 (GRCm39) V446I probably damaging Het
Atp8b5 C T 4: 43,356,982 (GRCm39) R577* probably null Het
Capn3 G T 2: 120,316,867 (GRCm39) E285D probably benign Het
Cd79b G T 11: 106,204,526 (GRCm39) P87T probably damaging Het
Celsr2 T G 3: 108,319,971 (GRCm39) D947A probably damaging Het
Csmd3 A C 15: 47,569,783 (GRCm39) S1213R Het
Cyp2j5 T C 4: 96,552,241 (GRCm39) M3V probably benign Het
Ddi1 C T 9: 6,265,787 (GRCm39) R194K probably benign Het
Decr1 T C 4: 15,933,019 (GRCm39) K49R probably benign Het
Dnah10 A C 5: 124,905,575 (GRCm39) E4130A probably benign Het
Dst A G 1: 34,323,444 (GRCm39) D4648G probably damaging Het
Ecd A G 14: 20,380,020 (GRCm39) probably null Het
Erbin A T 13: 103,970,864 (GRCm39) Y917* probably null Het
Evpl T C 11: 116,113,989 (GRCm39) K1234E probably benign Het
F11r T A 1: 171,289,191 (GRCm39) Y218N possibly damaging Het
Fam43a C G 16: 30,420,622 (GRCm39) T402S probably benign Het
Frem2 T C 3: 53,457,064 (GRCm39) N2096S probably benign Het
Gpd2 T A 2: 57,196,962 (GRCm39) Y172* probably null Het
Hscb A G 5: 110,983,844 (GRCm39) V90A probably benign Het
Iqgap2 T C 13: 95,794,387 (GRCm39) D1195G probably damaging Het
Map2k2 T C 10: 80,950,900 (GRCm39) I115T probably damaging Het
Mast2 C T 4: 116,170,172 (GRCm39) R707H probably damaging Het
Mindy4 A G 6: 55,277,977 (GRCm39) N607S probably damaging Het
Mrpl9 T A 3: 94,351,050 (GRCm39) Y77N probably damaging Het
Muc16 G A 9: 18,570,347 (GRCm39) T724I unknown Het
Nat3 A T 8: 68,000,478 (GRCm39) Y119F possibly damaging Het
Nol7 T C 13: 43,554,990 (GRCm39) S208P probably damaging Het
Notch3 A T 17: 32,365,545 (GRCm39) C1056S probably damaging Het
Nup50l TCC TCCGCC 6: 96,142,078 (GRCm39) probably benign Het
Nup50l TCC TCCCCC 6: 96,142,084 (GRCm39) probably benign Het
Or13j1 A T 4: 43,705,884 (GRCm39) V228E probably damaging Het
Or3a4 T A 11: 73,945,301 (GRCm39) I95F probably benign Het
Or5al5 A T 2: 85,961,721 (GRCm39) Y95* probably null Het
Or8g17 G T 9: 38,930,783 (GRCm39) T18K probably damaging Het
Osbpl3 A C 6: 50,322,995 (GRCm39) L288R probably damaging Het
Oscp1 A C 4: 125,982,116 (GRCm39) D352A possibly damaging Het
Pcdh9 G A 14: 94,123,222 (GRCm39) R983C probably benign Het
Pcdhgb8 T C 18: 37,896,555 (GRCm39) S542P probably benign Het
Pi4ka T C 16: 17,174,030 (GRCm39) T490A Het
Pkd1l1 A T 11: 8,897,315 (GRCm39) D531E Het
Potefam3d A T 8: 69,975,404 (GRCm39) Y21N possibly damaging Het
Prr3 G T 17: 36,290,053 (GRCm39) D26E possibly damaging Het
Psmd8 T C 7: 28,880,001 (GRCm39) K24E probably benign Het
Rasgrp4 G A 7: 28,849,362 (GRCm39) C583Y probably damaging Het
Rest A G 5: 77,416,171 (GRCm39) I128M probably benign Het
Rftn1 A T 17: 50,393,607 (GRCm39) F144I probably damaging Het
Rusc2 T C 4: 43,421,851 (GRCm39) F757S probably benign Het
Ryr1 A G 7: 28,782,810 (GRCm39) S1942P probably benign Het
Sdk2 C T 11: 113,745,177 (GRCm39) R706Q probably damaging Het
Sergef G T 7: 46,264,062 (GRCm39) T275K probably damaging Het
Serpina10 T C 12: 103,594,569 (GRCm39) T217A probably damaging Het
Shd G C 17: 56,283,235 (GRCm39) S288T probably damaging Het
Siglec15 C A 18: 78,091,803 (GRCm39) A133S possibly damaging Het
Stat4 C T 1: 52,118,932 (GRCm39) P325L probably damaging Het
Syt8 G A 7: 141,993,881 (GRCm39) G344D probably damaging Het
Tes A G 6: 17,097,291 (GRCm39) E133G probably benign Het
Tmprss2 T C 16: 97,369,616 (GRCm39) Y386C probably damaging Het
Tnfrsf11b A T 15: 54,115,502 (GRCm39) L365Q probably damaging Het
Tns1 T A 1: 73,992,596 (GRCm39) D67V probably damaging Het
Tns2 T C 15: 102,021,280 (GRCm39) S982P probably damaging Het
Tpcn2 A T 7: 144,814,683 (GRCm39) F473I probably benign Het
Tsg101 A T 7: 46,542,257 (GRCm39) I232N probably damaging Het
Ttc3 T C 16: 94,268,848 (GRCm39) S1977P probably benign Het
Ttll11 T A 2: 35,869,527 (GRCm39) E37V unknown Het
Ttn A T 2: 76,649,160 (GRCm39) V12716E possibly damaging Het
Vmn2r70 A C 7: 85,212,923 (GRCm39) S495A probably benign Het
Zfp974 A G 7: 27,610,697 (GRCm39) C343R probably damaging Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Other mutations in Acadl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01296:Acadl APN 1 66,880,864 (GRCm39) missense probably damaging 0.97
IGL01983:Acadl APN 1 66,880,783 (GRCm39) nonsense probably null
IGL02550:Acadl APN 1 66,884,325 (GRCm39) critical splice donor site probably null
IGL02934:Acadl APN 1 66,876,134 (GRCm39) missense probably benign 0.33
IGL03002:Acadl APN 1 66,876,128 (GRCm39) missense probably benign 0.01
B6584:Acadl UTSW 1 66,887,632 (GRCm39) splice site probably benign
PIT4377001:Acadl UTSW 1 66,877,564 (GRCm39) missense probably damaging 1.00
R0426:Acadl UTSW 1 66,880,805 (GRCm39) missense probably damaging 0.99
R0639:Acadl UTSW 1 66,896,567 (GRCm39) missense probably benign
R1264:Acadl UTSW 1 66,896,712 (GRCm39) missense probably benign 0.00
R1589:Acadl UTSW 1 66,892,382 (GRCm39) missense probably benign 0.04
R2066:Acadl UTSW 1 66,880,905 (GRCm39) splice site probably null
R3735:Acadl UTSW 1 66,892,448 (GRCm39) missense probably benign 0.41
R4646:Acadl UTSW 1 66,870,602 (GRCm39) missense probably benign 0.00
R5690:Acadl UTSW 1 66,892,445 (GRCm39) missense probably damaging 1.00
R6185:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7686:Acadl UTSW 1 66,887,557 (GRCm39) critical splice donor site probably null
R7699:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7700:Acadl UTSW 1 66,877,522 (GRCm39) missense possibly damaging 0.72
R7858:Acadl UTSW 1 66,877,483 (GRCm39) missense probably benign 0.11
R8389:Acadl UTSW 1 66,893,906 (GRCm39) missense probably damaging 1.00
R9381:Acadl UTSW 1 66,893,805 (GRCm39) missense probably benign
R9457:Acadl UTSW 1 66,892,400 (GRCm39) missense probably benign 0.36
Predicted Primers PCR Primer
(F):5'- AGTTCCAGACTTCTACTCCCAG -3'
(R):5'- CAGTGCAGTGAGACCTTCAG -3'

Sequencing Primer
(F):5'- TATTGACAAAATCCAGGCCAATGG -3'
(R):5'- CAGTGCAGTGAGACCTTCAGAAATTC -3'
Posted On 2020-01-23