Incidental Mutation 'IGL01720:Prodh2'
ID105054
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 #IGL01720
Quality Score
Status
Chromosome7
Chromosomal Location30493622-30513402 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30511203 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 393 (D393G)
Ref Sequence ENSEMBL: ENSMUSP00000062214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058280] [ENSMUST00000130839] [ENSMUST00000131040] [ENSMUST00000133318] [ENSMUST00000142575]
Predicted Effect probably damaging
Transcript: ENSMUST00000058280
AA Change: D393G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: D393G

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 unknown
Transcript: ENSMUST00000122876
AA Change: D61G
SMART Domains Protein: ENSMUSP00000114278
Gene: ENSMUSG00000036892
AA Change: D61G

DomainStartEndE-ValueType
Pfam:Pro_dh 1 82 2.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124276
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 probably benign
Transcript: ENSMUST00000131040
SMART Domains Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892

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
SMART Domains Protein: ENSMUSP00000122546
Gene: ENSMUSG00000036892

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 benign
Transcript: ENSMUST00000142575
SMART Domains Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apc2 T C 10: 80,314,499 S1796P probably benign Het
Asxl3 A T 18: 22,525,325 I2131F probably damaging Het
Cdc42bpa T A 1: 180,111,282 D833E probably damaging Het
Cenpc1 A G 5: 86,045,425 S202P possibly damaging Het
Cenpf T C 1: 189,682,386 E178G probably benign Het
Cenpf T C 1: 189,651,215 Y2636C probably damaging Het
Chkb C T 15: 89,427,952 probably null Het
Cldn20 A G 17: 3,533,100 T183A probably benign Het
Cpne8 C T 15: 90,501,500 V442I probably benign Het
Cx3cl1 T A 8: 94,778,073 M39K probably damaging Het
Dgkd T A 1: 87,936,765 L124Q probably damaging Het
Fam180a T C 6: 35,313,565 H161R probably benign Het
Galt C A 4: 41,757,463 R212S probably damaging Het
Gja10 T C 4: 32,601,007 D459G probably benign Het
Glb1 T C 9: 114,420,505 probably null Het
Gm13089 T A 4: 143,696,840 probably benign Het
Gm4981 A C 10: 58,236,389 M1R probably null Het
Gm5709 A T 3: 59,606,554 noncoding transcript Het
Igf2r A G 17: 12,701,313 Y1380H probably damaging Het
Jag1 C T 2: 137,087,103 G811D probably damaging Het
Lrguk T C 6: 34,043,477 F52S probably damaging Het
Lrrc15 A T 16: 30,273,320 N400K probably benign Het
Map3k12 A G 15: 102,502,186 probably benign Het
Mbnl2 C T 14: 120,325,270 T11I probably damaging Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mgat4a G A 1: 37,444,898 A497V probably damaging Het
Mrpl49 C A 19: 6,055,157 M91I possibly damaging Het
Olfr450 G A 6: 42,817,593 V41I probably benign Het
Olfr700 A T 7: 106,806,209 D84E probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Ppp1r13b T C 12: 111,858,260 T102A probably benign Het
Pyroxd1 A G 6: 142,351,058 probably benign Het
Rad17 A T 13: 100,622,858 C554S possibly damaging Het
Rapgef5 T C 12: 117,613,435 probably benign Het
Setdb2 A G 14: 59,423,436 V86A possibly damaging Het
Slc38a2 A T 15: 96,691,211 probably benign Het
Slc9c1 A G 16: 45,555,769 Y406C probably damaging Het
Slit1 T C 19: 41,634,214 D702G probably benign Het
Stat3 T C 11: 100,903,658 H275R possibly damaging Het
Susd5 T A 9: 114,063,984 N43K possibly damaging Het
Ttc3 A T 16: 94,385,369 K124N probably damaging Het
Usp36 C A 11: 118,275,002 R165L probably damaging Het
Vwf G A 6: 125,642,835 R1492Q possibly damaging Het
Wdr66 A G 5: 123,322,494 D1173G probably benign Het
Zbed6 A G 1: 133,657,526 V691A possibly damaging Het
Other mutations in Prodh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01949:Prodh2 APN 7 30509765 critical splice acceptor site probably null
IGL02119:Prodh2 APN 7 30506504 missense probably damaging 1.00
IGL02334:Prodh2 APN 7 30506378 missense probably damaging 0.99
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 On2014-01-21