Incidental Mutation 'R5731:Hacd2'
ID 452783
Institutional Source Beutler Lab
Gene Symbol Hacd2
Ensembl Gene ENSMUSG00000035376
Gene Name 3-hydroxyacyl-CoA dehydratase 2
Synonyms Ptplb, 6330408J20Rik
MMRRC Submission 043192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R5731 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 34842798-34929547 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 34922374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 188 (Y188N)
Ref Sequence ENSEMBL: ENSMUSP00000060462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061156]
AlphaFold Q9D3B1
Predicted Effect probably damaging
Transcript: ENSMUST00000061156
AA Change: Y188N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000060462
Gene: ENSMUSG00000035376
AA Change: Y188N

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 12 27 N/A INTRINSIC
transmembrane domain 42 64 N/A INTRINSIC
Pfam:PTPLA 85 246 1.4e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231556
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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 can catalyze the third step (dehydration) in the conversion of long chain fatty acids to very long chain fatty acids. The encoded protein localizes to the endoplasmic reticulum membrane. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik A G 8: 33,919,353 (GRCm39) I58V unknown Het
Abca4 G T 3: 121,926,242 (GRCm39) G18V probably damaging Het
Arl9 T C 5: 77,154,374 (GRCm39) V34A possibly damaging Het
Bpifb9a A T 2: 154,104,163 (GRCm39) N202I possibly damaging Het
C1qtnf6 A T 15: 78,411,514 (GRCm39) M54K probably benign Het
Ccdc62 T C 5: 124,089,352 (GRCm39) probably null Het
Cd177 A G 7: 24,443,846 (GRCm39) C751R probably damaging Het
Clcn3 T C 8: 61,375,923 (GRCm39) I657V possibly damaging Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Dag1 T C 9: 108,095,310 (GRCm39) T61A probably benign Het
Fam184b C T 5: 45,710,471 (GRCm39) G553E probably benign Het
Fkbp15 G C 4: 62,225,166 (GRCm39) A831G probably benign Het
Flt1 T C 5: 147,614,962 (GRCm39) H328R probably benign Het
Fmnl2 T A 2: 53,008,149 (GRCm39) probably null Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gprin2 C A 14: 33,917,397 (GRCm39) L124F probably damaging Het
Itgad A G 7: 127,797,726 (GRCm39) T950A probably benign Het
Kit T A 5: 75,815,075 (GRCm39) I933N possibly damaging Het
Klhl11 A T 11: 100,354,589 (GRCm39) Y411N probably damaging Het
N4bp2 T C 5: 65,966,500 (GRCm39) S1313P probably damaging Het
Neurog1 T C 13: 56,399,354 (GRCm39) K131R probably damaging Het
Or11h6 T C 14: 50,880,248 (GRCm39) L170P probably damaging Het
Or5d16 T A 2: 87,773,771 (GRCm39) H67L possibly damaging Het
Otogl T C 10: 107,717,325 (GRCm39) D382G probably damaging Het
Pcdh1 A C 18: 38,331,651 (GRCm39) F590V probably damaging Het
Pcdha5 G A 18: 37,093,820 (GRCm39) V110M probably damaging Het
Pdlim3 A G 8: 46,368,284 (GRCm39) N261D probably benign Het
Pou4f1 T C 14: 104,703,347 (GRCm39) T362A unknown Het
Prlr A G 15: 10,314,221 (GRCm39) T9A probably benign Het
Psmb7 T C 2: 38,478,289 (GRCm39) Y245C probably damaging Het
Ryr3 T A 2: 112,471,917 (GRCm39) D4515V probably damaging Het
Svop T C 5: 114,198,124 (GRCm39) K149E probably damaging Het
Tlr3 A G 8: 45,851,157 (GRCm39) V56A probably benign Het
Tm4sf20 T G 1: 82,738,013 (GRCm39) I93L probably benign Het
Ugt2b5 T A 5: 87,288,111 (GRCm39) R19* probably null Het
Vmn2r28 G T 7: 5,491,668 (GRCm39) T193K probably benign Het
Vps13c A G 9: 67,802,661 (GRCm39) D654G probably damaging Het
Zfyve16 T A 13: 92,644,701 (GRCm39) Q1167L probably benign Het
Other mutations in Hacd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01999:Hacd2 APN 16 34,869,083 (GRCm39) splice site probably benign
IGL02454:Hacd2 APN 16 34,926,761 (GRCm39) missense probably benign 0.03
R0057:Hacd2 UTSW 16 34,895,997 (GRCm39) missense probably damaging 1.00
R0057:Hacd2 UTSW 16 34,895,997 (GRCm39) missense probably damaging 1.00
R1831:Hacd2 UTSW 16 34,922,434 (GRCm39) missense probably damaging 1.00
R1945:Hacd2 UTSW 16 34,922,354 (GRCm39) missense possibly damaging 0.82
R2097:Hacd2 UTSW 16 34,869,090 (GRCm39) missense probably benign 0.01
R2392:Hacd2 UTSW 16 34,926,748 (GRCm39) missense probably benign 0.04
R4962:Hacd2 UTSW 16 34,842,921 (GRCm39) missense unknown
R7751:Hacd2 UTSW 16 34,922,434 (GRCm39) missense probably damaging 1.00
R7850:Hacd2 UTSW 16 34,922,477 (GRCm39) missense probably damaging 1.00
R9101:Hacd2 UTSW 16 34,920,156 (GRCm39) missense probably benign 0.43
Z1176:Hacd2 UTSW 16 34,926,695 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- CATGTTCTGAAGGAGCCAGG -3'
(R):5'- AACTCTAGTTACCGCAGAGC -3'

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