Incidental Mutation 'IGL02334:Prodh2'
ID288795
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prodh2
Ensembl Gene ENSMUSG00000036892
Gene Nameproline dehydrogenase (oxidase) 2
Synonyms2510028N04Rik, POX1, 2510038B11Rik, MmPOX1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #IGL02334
Quality Score
Status
Chromosome7
Chromosomal Location30493622-30513402 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30506378 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 213 (H213R)
Ref Sequence ENSEMBL: ENSMUSP00000114778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058280] [ENSMUST00000130839] [ENSMUST00000131040] [ENSMUST00000133318] [ENSMUST00000142575]
Predicted Effect probably benign
Transcript: ENSMUST00000058280
AA Change: H227R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: H227R

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
Pfam:Pro_dh 87 440 3.4e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122876
SMART Domains Protein: ENSMUSP00000114278
Gene: ENSMUSG00000036892

DomainStartEndE-ValueType
Pfam:Pro_dh 1 82 2.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130839
SMART Domains Protein: ENSMUSP00000117480
Gene: ENSMUSG00000036892

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
low complexity region 65 79 N/A INTRINSIC
low complexity region 97 112 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131040
AA Change: H166R

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892
AA Change: H166R

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 33 47 N/A INTRINSIC
low complexity region 65 80 N/A INTRINSIC
Pfam:Pro_dh 91 260 5e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133318
AA Change: H225R

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000122546
Gene: ENSMUSG00000036892
AA Change: H225R

DomainStartEndE-ValueType
low complexity region 37 46 N/A INTRINSIC
low complexity region 63 77 N/A INTRINSIC
low complexity region 95 110 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142514
Predicted Effect probably damaging
Transcript: ENSMUST00000142575
AA Change: H213R

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892
AA Change: H213R

DomainStartEndE-ValueType
low complexity region 57 68 N/A INTRINSIC
Pfam:Pro_dh 147 284 6.5e-14 PFAM
Coding Region Coverage
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 catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd46 A G 15: 36,485,933 V58A possibly damaging Het
Dhx16 A G 17: 35,884,057 E492G probably damaging Het
Dock1 T C 7: 135,145,565 M1535T probably damaging Het
Evpl G T 11: 116,231,024 S344* probably null Het
F2 A T 2: 91,633,094 H148Q probably benign Het
Fam83e A T 7: 45,723,921 H237L probably benign Het
Fscn3 A T 6: 28,428,154 probably null Het
Gpr162 C A 6: 124,861,160 G176C probably damaging Het
Icam5 A G 9: 21,035,209 D376G possibly damaging Het
Ift172 T C 5: 31,283,058 K295R probably benign Het
Irf3 A G 7: 44,998,710 probably benign Het
Itga2 A T 13: 114,865,309 probably null Het
Klhl11 A T 11: 100,463,836 D386E probably damaging Het
Myh4 G T 11: 67,245,547 G417V probably damaging Het
Nlrp3 A G 11: 59,565,083 T902A probably benign Het
Olfr1012 A T 2: 85,760,159 Y72* probably null Het
Olfr1245 A C 2: 89,575,324 M134R possibly damaging Het
Olfr1390 A G 11: 49,341,191 I220V probably benign Het
Phf10 T C 17: 14,954,099 Y239C probably damaging Het
Pla2g4e A G 2: 120,187,236 F203S probably benign Het
Pramel1 T C 4: 143,397,526 F257S probably damaging Het
Rgs7 C T 1: 175,189,222 D61N probably damaging Het
Rhobtb1 T A 10: 69,285,678 probably benign Het
Sct C A 7: 141,278,617 probably null Het
Slc17a9 G A 2: 180,740,743 probably null Het
Spire1 T C 18: 67,506,655 T263A probably benign Het
Trpm1 A T 7: 64,245,942 probably null Het
Trpm7 G T 2: 126,807,362 N1469K probably benign Het
Zfp750 G T 11: 121,512,011 T637K probably benign Het
Zswim5 T C 4: 116,986,644 C960R probably damaging Het
Zwint T A 10: 72,654,983 probably null Het
Other mutations in Prodh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Prodh2 APN 7 30511203 missense probably damaging 1.00
IGL01949:Prodh2 APN 7 30509765 critical splice acceptor site probably null
IGL02119:Prodh2 APN 7 30506504 missense probably damaging 1.00
IGL03061:Prodh2 APN 7 30512833 nonsense probably null
R0831:Prodh2 UTSW 7 30494224 nonsense probably null
R0964:Prodh2 UTSW 7 30506281 missense probably damaging 1.00
R1295:Prodh2 UTSW 7 30494089 missense probably damaging 1.00
R4414:Prodh2 UTSW 7 30506452 missense probably damaging 1.00
R5035:Prodh2 UTSW 7 30506479 missense possibly damaging 0.49
R5461:Prodh2 UTSW 7 30494523 missense possibly damaging 0.92
R5643:Prodh2 UTSW 7 30506746 missense possibly damaging 0.65
R6276:Prodh2 UTSW 7 30506651 missense probably benign 0.07
R6876:Prodh2 UTSW 7 30506500 missense probably damaging 1.00
R7860:Prodh2 UTSW 7 30512639 splice site probably null
R7972:Prodh2 UTSW 7 30511155 missense probably damaging 1.00
R8040:Prodh2 UTSW 7 30506411 missense probably damaging 1.00
X0026:Prodh2 UTSW 7 30493775 missense possibly damaging 0.83
Z1177:Prodh2 UTSW 7 30493990 missense probably damaging 1.00
Z1186:Prodh2 UTSW 7 30506644 missense probably benign 0.02
Posted On2015-04-16