Incidental Mutation 'R5190:Decr1'
ID 398036
Institutional Source Beutler Lab
Gene Symbol Decr1
Ensembl Gene ENSMUSG00000028223
Gene Name 2,4-dienoyl CoA reductase 1, mitochondrial
Synonyms 1200012F07Rik, Nadph, Decr
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R5190 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 15917240-15945377 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 15924270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 217 (V217M)
Ref Sequence ENSEMBL: ENSMUSP00000029877 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029877]
AlphaFold Q9CQ62
Predicted Effect probably damaging
Transcript: ENSMUST00000029877
AA Change: V217M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029877
Gene: ENSMUSG00000028223
AA Change: V217M

DomainStartEndE-ValueType
Pfam:adh_short 60 253 7.7e-34 PFAM
Pfam:KR 61 182 4.3e-9 PFAM
Pfam:adh_short_C2 66 304 2e-27 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased sensitivity to fasting and cold stresses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Abca7 T C 10: 79,835,427 (GRCm39) probably null Het
Abca8a C T 11: 109,980,735 (GRCm39) probably null Het
Ablim3 A G 18: 61,952,982 (GRCm39) Y361H probably benign Het
Acan C T 7: 78,748,289 (GRCm39) T1020I probably benign Het
Baat A G 4: 49,499,652 (GRCm39) L218P probably damaging Het
Bcl11b C A 12: 107,955,975 (GRCm39) C58F probably damaging Het
Cand2 G T 6: 115,766,474 (GRCm39) A360S probably damaging Het
Cdh2 A G 18: 16,783,372 (GRCm39) V62A possibly damaging Het
Cep44 C T 8: 56,985,831 (GRCm39) V354I probably benign Het
Col3a1 G A 1: 45,368,244 (GRCm39) R309Q unknown Het
Col3a1 G A 1: 45,383,967 (GRCm39) probably benign Het
Coq5 A G 5: 115,433,839 (GRCm39) probably null Het
Crtac1 A G 19: 42,322,347 (GRCm39) I131T possibly damaging Het
Dnajc13 A G 9: 104,051,724 (GRCm39) V1706A probably benign Het
Dop1a A G 9: 86,369,357 (GRCm39) I63M probably damaging Het
F830045P16Rik T C 2: 129,314,635 (GRCm39) D214G probably benign Het
Fam216a T A 5: 122,505,584 (GRCm39) probably null Het
Fdxacb1 A C 9: 50,683,387 (GRCm39) H248P possibly damaging Het
Gnai1 A T 5: 18,496,596 (GRCm39) V109E probably benign Het
Helz2 A T 2: 180,872,550 (GRCm39) probably null Het
Itgam T C 7: 127,715,489 (GRCm39) probably null Het
Kcnh1 A G 1: 192,187,836 (GRCm39) S766G probably benign Het
Klra1 C A 6: 130,352,241 (GRCm39) C167F probably damaging Het
Krtap9-3 T A 11: 99,488,808 (GRCm39) T25S probably benign Het
Mapk6 T C 9: 75,295,626 (GRCm39) Y624C probably damaging Het
Or10ag2 A G 2: 87,249,187 (GRCm39) Y263C probably damaging Het
Or1ad8 T G 11: 50,898,381 (GRCm39) I194S probably damaging Het
Or2y1g T C 11: 49,171,209 (GRCm39) V78A probably damaging Het
Or52e4 C T 7: 104,705,660 (GRCm39) S69L probably damaging Het
Or9m2 T A 2: 87,821,107 (GRCm39) Y217* probably null Het
P3h2 A G 16: 25,803,699 (GRCm39) S356P possibly damaging Het
Pde12 C T 14: 26,387,532 (GRCm39) probably null Het
Rln3 T G 8: 84,769,866 (GRCm39) K94N probably damaging Het
Skint5 T C 4: 113,620,711 (GRCm39) I668V unknown Het
Slitrk5 C A 14: 111,916,852 (GRCm39) Q159K probably damaging Het
Trim3 G T 7: 105,268,716 (GRCm39) N79K probably damaging Het
Tyw1 T A 5: 130,296,756 (GRCm39) C101* probably null Het
Ulk2 T C 11: 61,672,537 (GRCm39) T934A probably benign Het
Unc5b T C 10: 60,608,072 (GRCm39) Y687C probably benign Het
Vmn1r195 C T 13: 22,462,556 (GRCm39) R9* probably null Het
Zfc3h1 T G 10: 115,254,597 (GRCm39) L1397R probably damaging Het
Zfp296 T C 7: 19,311,332 (GRCm39) V9A probably benign Het
Zfp423 T A 8: 88,509,091 (GRCm39) S397C probably damaging Het
Other mutations in Decr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00718:Decr1 APN 4 15,933,056 (GRCm39) missense probably benign 0.23
IGL02736:Decr1 APN 4 15,930,952 (GRCm39) missense probably benign 0.01
IGL03141:Decr1 APN 4 15,932,902 (GRCm39) missense probably damaging 1.00
I1329:Decr1 UTSW 4 15,930,976 (GRCm39) nonsense probably null
R0472:Decr1 UTSW 4 15,919,849 (GRCm39) missense probably damaging 1.00
R1295:Decr1 UTSW 4 15,919,207 (GRCm39) missense possibly damaging 0.93
R1898:Decr1 UTSW 4 15,929,801 (GRCm39) missense probably damaging 1.00
R1955:Decr1 UTSW 4 15,924,256 (GRCm39) missense probably benign 0.09
R3160:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R3162:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R3162:Decr1 UTSW 4 15,930,972 (GRCm39) missense probably damaging 0.99
R4545:Decr1 UTSW 4 15,930,979 (GRCm39) missense probably damaging 1.00
R4962:Decr1 UTSW 4 15,930,976 (GRCm39) nonsense probably null
R5188:Decr1 UTSW 4 15,924,270 (GRCm39) missense probably damaging 1.00
R5215:Decr1 UTSW 4 15,929,795 (GRCm39) missense probably damaging 1.00
R5556:Decr1 UTSW 4 15,919,244 (GRCm39) missense probably damaging 1.00
R6164:Decr1 UTSW 4 15,924,347 (GRCm39) missense probably benign 0.32
R6253:Decr1 UTSW 4 15,931,179 (GRCm39) missense probably benign 0.00
R6313:Decr1 UTSW 4 15,924,261 (GRCm39) missense probably benign 0.00
R6830:Decr1 UTSW 4 15,924,355 (GRCm39) critical splice acceptor site probably null
R6998:Decr1 UTSW 4 15,930,960 (GRCm39) missense probably damaging 1.00
R7064:Decr1 UTSW 4 15,945,392 (GRCm39)
R8052:Decr1 UTSW 4 15,933,019 (GRCm39) missense probably benign 0.00
R8698:Decr1 UTSW 4 15,922,483 (GRCm39) critical splice donor site probably null
R8806:Decr1 UTSW 4 15,945,351 (GRCm39) start codon destroyed probably benign 0.01
R9217:Decr1 UTSW 4 15,930,969 (GRCm39) missense probably damaging 1.00
X0026:Decr1 UTSW 4 15,919,846 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCAGTAAAATGTTCCCTCCTAAG -3'
(R):5'- GGACCTCATTTGTGCCTGTC -3'

Sequencing Primer
(F):5'- GACCTTAAAATACGGGTAATTTTGC -3'
(R):5'- GTGCCTGTCATGTTTCCCGG -3'
Posted On 2016-07-06