Incidental Mutation 'R7001:Gcdh'
ID 544547
Institutional Source Beutler Lab
Gene Symbol Gcdh
Ensembl Gene ENSMUSG00000003809
Gene Name glutaryl-Coenzyme A dehydrogenase
Synonyms D17825
MMRRC Submission 045106-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7001 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 85613022-85620550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 85617540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 227 (V227L)
Ref Sequence ENSEMBL: ENSMUSP00000003907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000003922] [ENSMUST00000109745] [ENSMUST00000136026] [ENSMUST00000142748] [ENSMUST00000170296]
AlphaFold Q60759
Predicted Effect probably benign
Transcript: ENSMUST00000003907
AA Change: V227L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809
AA Change: V227L

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 61 172 1.5e-29 PFAM
Pfam:Acyl-CoA_dh_M 176 269 3.8e-22 PFAM
Pfam:Acyl-CoA_dh_1 287 429 2.9e-30 PFAM
Pfam:Acyl-CoA_dh_2 295 418 3.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000003922
Predicted Effect probably benign
Transcript: ENSMUST00000109745
AA Change: V218L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809
AA Change: V218L

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
Pfam:Acyl-CoA_dh_N 61 172 8.2e-28 PFAM
Pfam:Acyl-CoA_dh_M 176 230 2.2e-21 PFAM
low complexity region 269 280 N/A INTRINSIC
Pfam:Acyl-CoA_dh_1 287 429 2.6e-30 PFAM
Pfam:Acyl-CoA_dh_2 295 418 2.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136026
SMART Domains Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 52 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142748
SMART Domains Protein: ENSMUSP00000116584
Gene: ENSMUSG00000003809

DomainStartEndE-ValueType
low complexity region 2 24 N/A INTRINSIC
PDB:2R0M|A 45 66 5e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000170296
SMART Domains Protein: ENSMUSP00000131438
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 58 89 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit a mild motor deficit associated with a diffuse spongiform myelinopathy and elevated levels of glutaric acid and 3-hydroxyglutaric acid. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted(1)
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,771,272 (GRCm39) Q154K probably benign Het
Aldh6a1 T G 12: 84,488,662 (GRCm39) T75P probably damaging Het
Ank2 T A 3: 126,871,230 (GRCm39) H98L probably damaging Het
Ankib1 A G 5: 3,744,781 (GRCm39) F800S probably benign Het
Arhgap10 A T 8: 78,091,717 (GRCm39) M434K possibly damaging Het
Cap1 A T 4: 122,758,408 (GRCm39) F257L probably benign Het
Cdt1 T A 8: 123,299,249 (GRCm39) H510Q probably damaging Het
Clca3b A C 3: 144,533,733 (GRCm39) D547E possibly damaging Het
Col24a1 T C 3: 145,004,627 (GRCm39) V35A probably benign Het
Cyp2j13 A T 4: 95,945,112 (GRCm39) N305K probably damaging Het
D3Ertd751e T A 3: 41,712,844 (GRCm39) probably null Het
D6Ertd527e G A 6: 87,088,194 (GRCm39) G119D unknown Het
Ddc T C 11: 11,774,870 (GRCm39) probably null Het
Dnah12 A T 14: 26,601,681 (GRCm39) Y3713F probably damaging Het
Dock8 T A 19: 25,077,041 (GRCm39) S504T probably benign Het
Farp2 T C 1: 93,547,906 (GRCm39) F941L possibly damaging Het
Farp2 A G 1: 93,547,952 (GRCm39) N956S possibly damaging Het
Fbxo3 T A 2: 103,881,569 (GRCm39) H300Q probably damaging Het
Fcgrt T C 7: 44,751,466 (GRCm39) T131A probably benign Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Frem1 T C 4: 82,904,798 (GRCm39) E890G probably benign Het
Fsip2 C A 2: 82,817,269 (GRCm39) P4334H probably damaging Het
Gm8267 A C 14: 44,960,385 (GRCm39) M120R possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Lasp1 T G 11: 97,697,659 (GRCm39) H26Q probably damaging Het
Lrrcc1 T A 3: 14,605,155 (GRCm39) I297N probably damaging Het
Map1b A T 13: 99,567,101 (GRCm39) N1873K unknown Het
Map2 A G 1: 66,454,646 (GRCm39) I1179V probably benign Het
Mtss1 A C 15: 58,820,183 (GRCm39) probably benign Het
Mtus2 A G 5: 148,214,438 (GRCm39) E28G probably damaging Het
Muc6 G A 7: 141,217,320 (GRCm39) T2386I probably damaging Het
Myo3a G T 2: 22,337,188 (GRCm39) V362L probably benign Het
N6amt1 G A 16: 87,151,180 (GRCm39) V14M probably benign Het
Nav1 A T 1: 135,382,349 (GRCm39) probably null Het
Nol6 A G 4: 41,121,279 (GRCm39) S326P probably benign Het
Olr1 T A 6: 129,465,074 (GRCm39) E100V probably damaging Het
Or52ab4 A G 7: 102,987,428 (GRCm39) S56G possibly damaging Het
Or8k37 A T 2: 86,469,495 (GRCm39) S186T probably benign Het
Otop3 T C 11: 115,230,479 (GRCm39) Y119H probably damaging Het
Prb1b C T 6: 132,289,527 (GRCm39) G99E unknown Het
Ryr2 A T 13: 11,809,491 (GRCm39) M778K probably damaging Het
Serpina3n G T 12: 104,375,184 (GRCm39) M85I probably benign Het
Serpine2 A G 1: 79,772,748 (GRCm39) F390L probably damaging Het
Sf3b1 A G 1: 55,040,205 (GRCm39) V591A probably damaging Het
Sf3b1 A G 1: 55,053,640 (GRCm39) probably null Het
Slc26a5 C T 5: 22,016,334 (GRCm39) V646I probably damaging Het
Slitrk3 T A 3: 72,957,942 (GRCm39) K277* probably null Het
Sv2c A G 13: 96,118,461 (GRCm39) S463P probably benign Het
Tbc1d4 G A 14: 101,696,185 (GRCm39) T858M probably benign Het
Tbx18 T A 9: 87,609,457 (GRCm39) I193F probably damaging Het
Tm6sf2 A C 8: 70,530,982 (GRCm39) D245A probably damaging Het
Unc119 T C 11: 78,239,380 (GRCm39) Y234H probably damaging Het
Wrn A T 8: 33,842,157 (GRCm39) S46T probably benign Het
Zfp729a A T 13: 67,768,468 (GRCm39) I587K probably benign Het
Zfp872 C A 9: 22,111,912 (GRCm39) H464N probably damaging Het
Other mutations in Gcdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Gcdh APN 8 85,615,146 (GRCm39) unclassified probably benign
IGL01533:Gcdh APN 8 85,615,991 (GRCm39) missense probably damaging 1.00
IGL01616:Gcdh APN 8 85,620,288 (GRCm39) missense probably damaging 1.00
IGL01903:Gcdh APN 8 85,615,233 (GRCm39) missense probably damaging 1.00
IGL01987:Gcdh APN 8 85,620,110 (GRCm39) splice site probably benign
IGL02976:Gcdh APN 8 85,615,207 (GRCm39) missense probably damaging 1.00
IGL03333:Gcdh APN 8 85,617,700 (GRCm39) missense probably benign 0.00
P0014:Gcdh UTSW 8 85,615,154 (GRCm39) critical splice donor site probably null
R0898:Gcdh UTSW 8 85,620,189 (GRCm39) missense possibly damaging 0.66
R1184:Gcdh UTSW 8 85,620,071 (GRCm39) splice site probably benign
R1983:Gcdh UTSW 8 85,617,539 (GRCm39) missense possibly damaging 0.90
R3755:Gcdh UTSW 8 85,620,109 (GRCm39) splice site probably benign
R4062:Gcdh UTSW 8 85,619,082 (GRCm39) missense probably damaging 0.96
R5507:Gcdh UTSW 8 85,619,486 (GRCm39) missense probably damaging 1.00
R7857:Gcdh UTSW 8 85,619,093 (GRCm39) missense probably damaging 1.00
R8164:Gcdh UTSW 8 85,619,181 (GRCm39) missense probably damaging 1.00
R9287:Gcdh UTSW 8 85,616,313 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGGCACTTCCACACTGTC -3'
(R):5'- AGCCAAGGGTGAACTTCTGG -3'

Sequencing Primer
(F):5'- GTCCATGATGATCATACCGGTAGC -3'
(R):5'- GCTGCTTTGGACTTACAGAGCC -3'
Posted On 2019-05-13