Incidental Mutation 'R5507:Gcdh'
ID 430982
Institutional Source Beutler Lab
Gene Symbol Gcdh
Ensembl Gene ENSMUSG00000003809
Gene Name glutaryl-Coenzyme A dehydrogenase
Synonyms D17825
MMRRC Submission 043068-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5507 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 85613022-85620550 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85619486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 103 (L103P)
Ref Sequence ENSEMBL: ENSMUSP00000105367 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003907] [ENSMUST00000109745] [ENSMUST00000136026] [ENSMUST00000142748]
AlphaFold Q60759
Predicted Effect probably damaging
Transcript: ENSMUST00000003907
AA Change: L112P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000003907
Gene: ENSMUSG00000003809
AA Change: L112P

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 damaging
Transcript: ENSMUST00000109745
AA Change: L103P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000105367
Gene: ENSMUSG00000003809
AA Change: L103P

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 noncoding transcript
Transcript: ENSMUST00000128023
Predicted Effect probably benign
Transcript: ENSMUST00000136026
SMART Domains Protein: ENSMUSP00000122159
Gene: ENSMUSG00000003824

DomainStartEndE-ValueType
coiled coil region 52 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139180
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.2%
Validation Efficiency 100% (66/66)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A G 4: 39,451,084 (GRCm39) T97A probably damaging Het
1700017N19Rik T C 10: 100,445,095 (GRCm39) S27P probably benign Het
Acoxl C A 2: 127,726,394 (GRCm39) A256E probably damaging Het
Akap9 A G 5: 4,018,683 (GRCm39) E1088G probably benign Het
Alox12 T C 11: 70,145,238 (GRCm39) T112A possibly damaging Het
Ampd2 A G 3: 107,984,929 (GRCm39) V379A probably damaging Het
Ap4e1 C A 2: 126,850,818 (GRCm39) H49N probably damaging Het
Arhgap11a T C 2: 113,672,023 (GRCm39) T260A probably benign Het
Atg2a T C 19: 6,295,100 (GRCm39) F171S possibly damaging Het
Bpifb9b A T 2: 154,158,947 (GRCm39) Y488F possibly damaging Het
C2cd2 T C 16: 97,682,820 (GRCm39) T139A probably benign Het
Cct8l1 A T 5: 25,721,377 (GRCm39) T31S probably benign Het
Cdhr1 A T 14: 36,804,802 (GRCm39) N469K probably damaging Het
Chga T C 12: 102,528,868 (GRCm39) S282P probably benign Het
Chrnb4 T G 9: 54,942,296 (GRCm39) H326P probably damaging Het
Cntnap1 A G 11: 101,074,303 (GRCm39) T748A probably benign Het
Cpsf3 T A 12: 21,347,929 (GRCm39) L250H probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dppa5a T A 9: 78,275,353 (GRCm39) D10V possibly damaging Het
Dsc2 G A 18: 20,179,336 (GRCm39) T244I probably damaging Het
Elavl4 T C 4: 110,070,403 (GRCm39) T144A probably benign Het
Ephb1 C T 9: 101,813,315 (GRCm39) V776M probably damaging Het
Fcrl1 C T 3: 87,298,549 (GRCm39) S348F probably benign Het
Fga T A 3: 82,940,643 (GRCm39) W766R probably damaging Het
Galnt14 A G 17: 73,802,661 (GRCm39) V477A probably damaging Het
Gm27013 G A 6: 130,652,942 (GRCm39) T840I probably damaging Het
Gpr179 A T 11: 97,229,156 (GRCm39) W1000R probably damaging Het
Hectd4 C T 5: 121,419,164 (GRCm39) A581V unknown Het
Ints12 T A 3: 132,814,921 (GRCm39) V376E probably damaging Het
Krt77 T C 15: 101,769,665 (GRCm39) I402V probably benign Het
Marchf1 T C 8: 66,871,542 (GRCm39) V102A probably damaging Het
Meis1 A T 11: 18,966,168 (GRCm39) N68K probably benign Het
Mthfd1l A G 10: 4,056,432 (GRCm39) E916G probably benign Het
Muc5ac T C 7: 141,361,569 (GRCm39) F1627L possibly damaging Het
Myef2 A T 2: 124,958,623 (GRCm39) M102K probably benign Het
Naip6 A C 13: 100,435,423 (GRCm39) H1033Q probably benign Het
Nid1 T A 13: 13,663,622 (GRCm39) C760* probably null Het
Nt5dc1 A T 10: 34,273,226 (GRCm39) C191S probably benign Het
Nup214 A G 2: 31,878,188 (GRCm39) E285G possibly damaging Het
Nvl A G 1: 180,962,601 (GRCm39) L123P probably damaging Het
Or5t9 T A 2: 86,659,661 (GRCm39) H188Q probably damaging Het
Otog A G 7: 45,911,123 (GRCm39) E658G probably damaging Het
Pam16 G T 16: 4,435,880 (GRCm39) probably benign Het
Psg17 T C 7: 18,553,851 (GRCm39) D133G probably benign Het
Rabgap1l A G 1: 160,178,898 (GRCm39) S21P possibly damaging Het
Rgs22 T A 15: 36,099,798 (GRCm39) M306L probably damaging Het
Ruvbl1 A G 6: 88,444,582 (GRCm39) K59R probably benign Het
Samd9l T C 6: 3,373,898 (GRCm39) E1121G possibly damaging Het
Serpinb13 A G 1: 106,926,332 (GRCm39) N169S probably benign Het
Setbp1 T A 18: 79,129,927 (GRCm39) T102S probably damaging Het
Syn3 A T 10: 85,916,090 (GRCm39) S299T probably benign Het
Taar7a A G 10: 23,868,529 (GRCm39) L284P probably damaging Het
Tlr6 C A 5: 65,110,749 (GRCm39) Q719H probably damaging Het
Tmem131 T A 1: 36,928,361 (GRCm39) D76V probably damaging Het
Tradd T G 8: 105,986,257 (GRCm39) D145A possibly damaging Het
Usp20 A T 2: 30,900,238 (GRCm39) M251L probably benign Het
Vmn2r96 T A 17: 18,818,091 (GRCm39) L556Q probably damaging Het
Xrcc2 A G 5: 25,897,317 (GRCm39) S211P probably benign 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
R7001:Gcdh UTSW 8 85,617,540 (GRCm39) missense probably benign 0.01
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'- TATGGCCCTTCTGGAAGTGG -3'
(R):5'- CTGGCTAATCGAAATGAAGGTGC -3'

Sequencing Primer
(F):5'- GGTTAGGACTTTGTTCCTCTCAAAC -3'
(R):5'- CTAATCGAAATGAAGGTGCCTTGGTG -3'
Posted On 2016-10-05