Incidental Mutation 'R7972:Prodh2'
ID 650661
Institutional Source Beutler Lab
Gene Symbol Prodh2
Ensembl Gene ENSMUSG00000036892
Gene Name proline dehydrogenase (oxidase) 2
Synonyms MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik
MMRRC Submission 046015-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R7972 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 30193047-30212827 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 30210580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 377 (I377T)
Ref Sequence ENSEMBL: ENSMUSP00000062214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058280] [ENSMUST00000130839] [ENSMUST00000131040] [ENSMUST00000133318] [ENSMUST00000142575]
AlphaFold Q8VCZ9
Predicted Effect probably damaging
Transcript: ENSMUST00000058280
AA Change: I377T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: I377T

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
SMART Domains Protein: ENSMUSP00000114278
Gene: ENSMUSG00000036892
AA Change: I45T

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 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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (48/49)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a T A 17: 35,320,287 (GRCm39) V384E probably damaging Het
Acacb C T 5: 114,364,918 (GRCm39) R1533* probably null Het
Alox12 T A 11: 70,133,513 (GRCm39) M604L probably benign Het
Amotl2 C T 9: 102,600,968 (GRCm39) T345I probably benign Het
Brdt A T 5: 107,496,415 (GRCm39) I176F possibly damaging Het
Cdk5 G T 5: 24,624,656 (GRCm39) T245K probably benign Het
Chd9 A T 8: 91,732,395 (GRCm39) R1304S unknown Het
Clpsl2 G A 17: 28,769,702 (GRCm39) G55R probably damaging Het
Cyp2j11 T A 4: 96,185,871 (GRCm39) E438V probably damaging Het
Dao AGG AG 5: 114,153,270 (GRCm39) probably benign Het
Dnah10 T C 5: 124,803,949 (GRCm39) V92A probably benign Het
Evl C T 12: 108,647,783 (GRCm39) R295* probably null Het
Fam184a A T 10: 53,514,355 (GRCm39) L1022Q probably damaging Het
Foxd4 T C 19: 24,877,594 (GRCm39) H202R probably damaging Het
Fry T C 5: 150,233,861 (GRCm39) V16A probably benign Het
Gstcd A T 3: 132,777,894 (GRCm39) F306I probably benign Het
H2bc13 A G 13: 21,899,977 (GRCm39) S113P possibly damaging Het
Hivep3 T C 4: 119,954,711 (GRCm39) V1009A possibly damaging Het
Hoxd12 G T 2: 74,506,269 (GRCm39) R227L probably damaging Het
Ifi208 T A 1: 173,506,556 (GRCm39) M113K possibly damaging Het
Ift70a1 A T 2: 75,810,802 (GRCm39) M427K probably damaging Het
Kcnh4 T G 11: 100,643,278 (GRCm39) T330P probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,321,113 (GRCm39) probably benign Het
Lin28a G A 4: 133,733,574 (GRCm39) P158S probably damaging Het
Muc16 C A 9: 18,557,060 (GRCm39) E3078* probably null Het
Naaladl1 A G 19: 6,156,274 (GRCm39) N120S probably damaging Het
Nol10 G A 12: 17,402,648 (GRCm39) R40H probably benign Het
Ntng1 G A 3: 110,042,802 (GRCm39) S8L probably benign Het
Or4a71 T G 2: 89,357,948 (GRCm39) I269L probably benign Het
Or4c107 T A 2: 88,789,177 (GRCm39) Y122* probably null Het
Pacsin1 T A 17: 27,927,613 (GRCm39) F319I unknown Het
Pla2g4d G A 2: 120,109,413 (GRCm39) T212I probably benign Het
Ppp4r1 T A 17: 66,140,093 (GRCm39) C664S possibly damaging Het
Prss57 A T 10: 79,619,230 (GRCm39) L243H probably benign Het
Pxdn C T 12: 30,056,601 (GRCm39) L1271F probably damaging Het
Ros1 G A 10: 52,030,926 (GRCm39) R581* probably null Het
Rps6kc1 C T 1: 190,531,321 (GRCm39) G894S probably benign Het
Sirt7 A G 11: 120,510,016 (GRCm39) S183P unknown Het
Slc12a4 G A 8: 106,678,237 (GRCm39) R319W possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Styxl2 T A 1: 165,926,708 (GRCm39) E968V probably damaging Het
Tbc1d8 A G 1: 39,431,250 (GRCm39) F374S probably damaging Het
Tdrd1 T A 19: 56,837,134 (GRCm39) D489E probably damaging Het
Tiprl T A 1: 165,064,543 (GRCm39) probably benign Het
Tpt1 T C 14: 76,085,539 (GRCm39) *173Q probably null Het
Trim17 A G 11: 58,859,394 (GRCm39) I203V probably benign Het
Trim43b T A 9: 88,973,361 (GRCm39) H124L probably damaging Het
Triobp T C 15: 78,852,186 (GRCm39) I780T probably damaging Het
Tyrobp G A 7: 30,114,063 (GRCm39) G101R Het
Vmn1r181 A T 7: 23,683,871 (GRCm39) H112L probably benign Het
Wdr19 A G 5: 65,381,193 (GRCm39) N406D probably damaging Het
Zc3h12a T C 4: 125,013,728 (GRCm39) K379E probably benign Het
Zcwpw1 T C 5: 137,799,323 (GRCm39) I230T probably benign Het
Zfhx4 A G 3: 5,477,533 (GRCm39) T3383A 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
R5461:Prodh2 UTSW 7 30,193,948 (GRCm39) missense possibly damaging 0.92
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
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'- ACCTGATGCACCTTGTGTCC -3'
(R):5'- AAATATTGGAACAGTCTGGGAGATC -3'

Sequencing Primer
(F):5'- CGATCCCTGGCTGAAATCTGTG -3'
(R):5'- AACAGTCTGGGAGATCATTCTG -3'
Posted On 2020-09-15