Incidental Mutation 'R5461:Prodh2'
ID 482189
Institutional Source Beutler Lab
Gene Symbol Prodh2
Ensembl Gene ENSMUSG00000036892
Gene Name proline dehydrogenase (oxidase) 2
Synonyms MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik
MMRRC Submission 043023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R5461 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 30193047-30212827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 30193948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 185 (R185L)
Ref Sequence ENSEMBL: ENSMUSP00000114778 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058280] [ENSMUST00000130839] [ENSMUST00000131040] [ENSMUST00000133318] [ENSMUST00000142575]
AlphaFold Q8VCZ9
Predicted Effect probably benign
Transcript: ENSMUST00000058280
AA Change: R199L

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: R199L

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: 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
AA Change: R138L

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892
AA Change: R138L

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 noncoding transcript
Transcript: ENSMUST00000131789
Predicted Effect probably benign
Transcript: ENSMUST00000133318
AA Change: R197L

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122546
Gene: ENSMUSG00000036892
AA Change: R197L

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 possibly damaging
Transcript: ENSMUST00000142575
AA Change: R185L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892
AA Change: R185L

DomainStartEndE-ValueType
low complexity region 57 68 N/A INTRINSIC
Pfam:Pro_dh 147 284 6.5e-14 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,884,643 (GRCm39) I405K possibly damaging Het
4930562C15Rik G A 16: 4,682,227 (GRCm39) G180E probably damaging Het
Adgrg6 A T 10: 14,296,248 (GRCm39) W1079R probably damaging Het
Arsa T C 15: 89,357,478 (GRCm39) H495R probably benign Het
Bptf T C 11: 106,952,590 (GRCm39) T2088A probably damaging Het
Brsk2 T C 7: 141,541,643 (GRCm39) L152P probably damaging Het
C8a T C 4: 104,673,042 (GRCm39) probably benign Het
Ccdc177 G A 12: 80,804,816 (GRCm39) A486V unknown Het
Cpa2 A G 6: 30,544,180 (GRCm39) T38A probably benign Het
Crim1 T G 17: 78,545,236 (GRCm39) C133G probably damaging Het
Dnah2 C T 11: 69,364,177 (GRCm39) probably null Het
Ep400 G A 5: 110,824,550 (GRCm39) Q2392* probably null Het
Exoc2 C T 13: 31,109,738 (GRCm39) S210N possibly damaging Het
Gm7003 A G 12: 113,766,847 (GRCm39) probably benign Het
Hydin A G 8: 111,245,863 (GRCm39) K2192R probably damaging Het
Ica1l T C 1: 60,053,010 (GRCm39) D176G probably damaging Het
Ints10 G A 8: 69,246,693 (GRCm39) E8K possibly damaging Het
Itgb8 T C 12: 119,131,740 (GRCm39) E635G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Kng1 A G 16: 22,897,887 (GRCm39) H429R probably benign Het
Mcm3 T C 1: 20,884,661 (GRCm39) I281V probably benign Het
Msi1 T C 5: 115,579,450 (GRCm39) S200P possibly damaging Het
Nat3 T C 8: 68,000,514 (GRCm39) L131P probably damaging Het
Ncor2 T C 5: 125,104,177 (GRCm39) E1752G probably damaging Het
Nnt C T 13: 119,505,131 (GRCm39) A414T possibly damaging Het
Nrp2 C T 1: 62,786,370 (GRCm39) Q292* probably null Het
Or51ah3 T A 7: 103,209,780 (GRCm39) L32Q probably damaging Het
Or52k2 G A 7: 102,253,615 (GRCm39) G18D probably damaging Het
Otop1 A T 5: 38,457,059 (GRCm39) I273F probably damaging Het
Phactr3 T A 2: 177,920,694 (GRCm39) N177K probably benign Het
Pik3c2b C T 1: 133,027,440 (GRCm39) T1313I possibly damaging Het
Pikfyve C A 1: 65,274,192 (GRCm39) D677E probably damaging Het
Poc1a T C 9: 106,165,209 (GRCm39) F157L probably damaging Het
Rcc1 T C 4: 132,061,497 (GRCm39) I350M probably benign Het
Rhd G A 4: 134,611,928 (GRCm39) A249T probably damaging Het
Rtf2 A G 2: 172,287,252 (GRCm39) Y57C probably damaging Het
Shmt1 A G 11: 60,685,725 (GRCm39) S284P possibly damaging Het
Shpk T C 11: 73,090,361 (GRCm39) V6A probably benign Het
Slc4a5 T C 6: 83,262,836 (GRCm39) V661A probably benign Het
Spesp1 A T 9: 62,180,014 (GRCm39) L298Q probably damaging Het
Tas1r2 C A 4: 139,387,320 (GRCm39) Q231K probably benign Het
Tcp11l1 T C 2: 104,518,856 (GRCm39) Y280C probably benign Het
Tnip1 T C 11: 54,801,625 (GRCm39) probably benign Het
Topbp1 T A 9: 103,192,395 (GRCm39) D295E probably benign Het
Unc79 C T 12: 103,078,397 (GRCm39) L1521F probably damaging Het
Usp10 T C 8: 120,683,406 (GRCm39) I759T probably benign Het
Vmn1r30 A T 6: 58,412,759 (GRCm39) C24* probably null Het
Vmn2r104 T A 17: 20,250,343 (GRCm39) I643F probably damaging Het
Wwc1 T A 11: 35,758,199 (GRCm39) T716S probably damaging Het
Zfp949 C T 9: 88,451,537 (GRCm39) T369M probably benign Het
Zhx3 A G 2: 160,621,938 (GRCm39) V743A probably benign Het
Other mutations in Prodh2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01720:Prodh2 APN 7 30,210,628 (GRCm39) missense probably damaging 1.00
IGL01949:Prodh2 APN 7 30,209,190 (GRCm39) critical splice acceptor site probably null
IGL02119:Prodh2 APN 7 30,205,929 (GRCm39) missense probably damaging 1.00
IGL02334:Prodh2 APN 7 30,205,803 (GRCm39) missense probably damaging 0.99
IGL03061:Prodh2 APN 7 30,212,258 (GRCm39) nonsense probably null
R0831:Prodh2 UTSW 7 30,193,649 (GRCm39) nonsense probably null
R0964:Prodh2 UTSW 7 30,205,706 (GRCm39) missense probably damaging 1.00
R1295:Prodh2 UTSW 7 30,193,514 (GRCm39) missense probably damaging 1.00
R4414:Prodh2 UTSW 7 30,205,877 (GRCm39) missense probably damaging 1.00
R5035:Prodh2 UTSW 7 30,205,904 (GRCm39) missense possibly damaging 0.49
R5643:Prodh2 UTSW 7 30,206,171 (GRCm39) missense possibly damaging 0.65
R6276:Prodh2 UTSW 7 30,206,076 (GRCm39) missense probably benign 0.07
R6876:Prodh2 UTSW 7 30,205,925 (GRCm39) missense probably damaging 1.00
R7860:Prodh2 UTSW 7 30,212,064 (GRCm39) splice site probably null
R7972:Prodh2 UTSW 7 30,210,580 (GRCm39) missense probably damaging 1.00
R8040:Prodh2 UTSW 7 30,205,836 (GRCm39) missense probably damaging 1.00
X0026:Prodh2 UTSW 7 30,193,200 (GRCm39) missense possibly damaging 0.83
Z1177:Prodh2 UTSW 7 30,193,415 (GRCm39) missense probably damaging 1.00
Z1186:Prodh2 UTSW 7 30,206,069 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TCATGCAGCTGAAGGTGACC -3'
(R):5'- TTACAGGCATGCACGACCATG -3'

Sequencing Primer
(F):5'- CACTCGGCTTTGTGTAAGTGACAAG -3'
(R):5'- TGCACGACCATGCTCAG -3'
Posted On 2017-07-11