Incidental Mutation 'R1643:Prodh'
ID 173709
Institutional Source Beutler Lab
Gene Symbol Prodh
Ensembl Gene ENSMUSG00000003526
Gene Name proline dehydrogenase
Synonyms Pro-1, Ym24d07, Pro1
MMRRC Submission 039679-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1643 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 17889590-17907148 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17898933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 72 (N72I)
Ref Sequence ENSEMBL: ENSMUSP00000117597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003620] [ENSMUST00000132241] [ENSMUST00000136776] [ENSMUST00000139861] [ENSMUST00000232554]
AlphaFold Q9WU79
Predicted Effect probably benign
Transcript: ENSMUST00000003620
AA Change: N174I

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000003620
Gene: ENSMUSG00000003526
AA Change: N174I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
Pfam:Pro_dh 119 578 7.7e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123969
Predicted Effect probably benign
Transcript: ENSMUST00000126087
SMART Domains Protein: ENSMUSP00000121736
Gene: ENSMUSG00000003526

DomainStartEndE-ValueType
Pfam:Pro_dh 25 244 2.9e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000132241
Predicted Effect probably benign
Transcript: ENSMUST00000136776
AA Change: N72I

PolyPhen 2 Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000117597
Gene: ENSMUSG00000003526
AA Change: N72I

DomainStartEndE-ValueType
low complexity region 118 129 N/A INTRINSIC
Pfam:Pro_dh 159 479 1.8e-108 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139861
SMART Domains Protein: ENSMUSP00000123223
Gene: ENSMUSG00000003526

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 35 N/A INTRINSIC
low complexity region 41 52 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141635
Predicted Effect probably benign
Transcript: ENSMUST00000232554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232502
Meta Mutation Damage Score 0.0873 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.5%
Validation Efficiency 99% (74/75)
MGI Phenotype PHENOTYPE: Homozygotes for a spontaneous null mutation exhibit a slight reduction in male body weight, hyperprolinemia, increased startle reflex, and regionally altered brain levels of proline, glutamate, gamma-aminobutyric acid, and aspartate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700037C18Rik T A 16: 3,724,942 (GRCm39) K45* probably null Het
Abcc1 T A 16: 14,231,232 (GRCm39) Y457N probably damaging Het
Actr3b A G 5: 26,017,009 (GRCm39) D19G probably damaging Het
Adam39 T C 8: 41,279,523 (GRCm39) V638A possibly damaging Het
Adamts1 G T 16: 85,593,705 (GRCm39) probably benign Het
AI661453 A G 17: 47,778,791 (GRCm39) probably benign Het
Ank3 G A 10: 69,720,632 (GRCm39) S565N probably benign Het
Casd1 A G 6: 4,621,243 (GRCm39) E267G probably benign Het
Casr T C 16: 36,320,567 (GRCm39) K527R probably damaging Het
Cep128 A C 12: 91,292,306 (GRCm39) S248A probably damaging Het
Clic4 A G 4: 134,966,206 (GRCm39) V50A possibly damaging Het
Cylc2 C T 4: 51,225,173 (GRCm39) A36V probably benign Het
Derl1 T A 15: 57,741,955 (GRCm39) M127L probably benign Het
Dnah6 A G 6: 73,021,735 (GRCm39) V3529A possibly damaging Het
Dock1 G T 7: 134,700,508 (GRCm39) L1089F probably damaging Het
Edil3 T A 13: 89,437,695 (GRCm39) probably null Het
Efcab3 A T 11: 104,589,804 (GRCm39) T134S probably benign Het
Ephb1 A G 9: 101,874,024 (GRCm39) V550A probably damaging Het
Fcho2 G A 13: 98,921,324 (GRCm39) T187I probably benign Het
Gas6 T C 8: 13,515,902 (GRCm39) probably null Het
Gdf7 T C 12: 8,347,971 (GRCm39) Y442C probably damaging Het
Gm11567 G A 11: 99,770,623 (GRCm39) G187E unknown Het
Gm8674 T C 13: 50,055,394 (GRCm39) noncoding transcript Het
Ift80 T A 3: 68,823,490 (GRCm39) I591F probably benign Het
Kcnn3 C T 3: 89,427,804 (GRCm39) S10L unknown Het
Keg1 A G 19: 12,696,406 (GRCm39) I197V probably benign Het
Klhdc9 A G 1: 171,187,034 (GRCm39) probably null Het
Klhl11 A G 11: 100,353,841 (GRCm39) V660A probably benign Het
Lamc1 T C 1: 153,133,818 (GRCm39) probably benign Het
Lrrc73 G T 17: 46,566,266 (GRCm39) probably null Het
Lrriq1 G A 10: 103,050,685 (GRCm39) S689L probably benign Het
Magi2 A G 5: 20,910,504 (GRCm39) probably benign Het
Meis1 A G 11: 18,966,278 (GRCm39) S32P probably benign Het
Mia2 A G 12: 59,226,631 (GRCm39) probably null Het
Mlph T C 1: 90,869,456 (GRCm39) L486P probably damaging Het
Myh10 A G 11: 68,682,836 (GRCm39) E1090G probably damaging Het
Mylk T C 16: 34,696,005 (GRCm39) S247P probably benign Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Ndufc1 T C 3: 51,315,664 (GRCm39) T25A probably benign Het
Nedd4l A G 18: 65,331,712 (GRCm39) Y636C probably damaging Het
Nfib A T 4: 82,416,916 (GRCm39) Y40N probably damaging Het
Niban3 A G 8: 72,052,808 (GRCm39) D94G probably benign Het
Nisch T C 14: 30,895,125 (GRCm39) D1057G probably damaging Het
P3h2 T C 16: 25,791,041 (GRCm39) H475R probably benign Het
Pde6c C A 19: 38,150,406 (GRCm39) T517K possibly damaging Het
Piezo2 T C 18: 63,215,986 (GRCm39) I994V probably benign Het
Pik3r4 A G 9: 105,564,351 (GRCm39) D1315G possibly damaging Het
Pip5k1c T G 10: 81,150,828 (GRCm39) V46G probably damaging Het
Pole A G 5: 110,465,711 (GRCm39) E1213G probably damaging Het
Prl7d1 T C 13: 27,896,114 (GRCm39) S88G possibly damaging Het
Prrc2a G A 17: 35,375,930 (GRCm39) R907C probably damaging Het
Ptger2 T A 14: 45,226,423 (GRCm39) M1K probably null Het
Samd4b G C 7: 28,123,041 (GRCm39) Q6E probably damaging Het
Sec24a C T 11: 51,595,212 (GRCm39) R916H probably benign Het
Slc12a5 C A 2: 164,835,947 (GRCm39) D865E probably benign Het
Slc17a3 T C 13: 24,041,181 (GRCm39) probably benign Het
Ssrp1 T C 2: 84,871,529 (GRCm39) V317A possibly damaging Het
Stim1 A G 7: 102,035,307 (GRCm39) D95G possibly damaging Het
Taok2 A T 7: 126,475,110 (GRCm39) probably benign Het
Tcof1 T G 18: 60,949,300 (GRCm39) K1205T possibly damaging Het
Trim43c C T 9: 88,729,530 (GRCm39) R325C probably damaging Het
Trub2 T G 2: 29,667,948 (GRCm39) T231P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Uty T A Y: 1,152,054 (GRCm39) D724V probably damaging Het
Vmn2r98 A G 17: 19,301,170 (GRCm39) D724G probably damaging Het
Wdfy3 A G 5: 102,023,781 (GRCm39) I2442T possibly damaging Het
Wdfy4 T C 14: 32,795,542 (GRCm39) probably null Het
Zfp280b A G 10: 75,875,444 (GRCm39) H441R probably damaging Het
Zfp60 A T 7: 27,436,400 (GRCm39) Q7L probably damaging Het
Zzef1 T C 11: 72,717,028 (GRCm39) L406S probably damaging Het
Other mutations in Prodh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Prodh APN 16 17,894,208 (GRCm39) missense probably damaging 0.99
IGL02063:Prodh APN 16 17,897,049 (GRCm39) critical splice donor site probably null
IGL02525:Prodh APN 16 17,890,332 (GRCm39) nonsense probably null
R0147:Prodh UTSW 16 17,895,677 (GRCm39) missense probably damaging 1.00
R0148:Prodh UTSW 16 17,895,677 (GRCm39) missense probably damaging 1.00
R1913:Prodh UTSW 16 17,898,891 (GRCm39) missense probably damaging 1.00
R4190:Prodh UTSW 16 17,891,504 (GRCm39) missense probably benign 0.27
R4191:Prodh UTSW 16 17,891,504 (GRCm39) missense probably benign 0.27
R4193:Prodh UTSW 16 17,891,504 (GRCm39) missense probably benign 0.27
R4204:Prodh UTSW 16 17,890,182 (GRCm39) missense probably damaging 1.00
R5074:Prodh UTSW 16 17,895,653 (GRCm39) critical splice donor site probably null
R6194:Prodh UTSW 16 17,890,381 (GRCm39) missense probably benign 0.16
R6274:Prodh UTSW 16 17,898,922 (GRCm39) missense possibly damaging 0.91
R6376:Prodh UTSW 16 17,897,849 (GRCm39) missense probably benign
R6744:Prodh UTSW 16 17,897,064 (GRCm39) missense probably benign 0.43
R8985:Prodh UTSW 16 17,890,362 (GRCm39) missense probably null 0.00
R9335:Prodh UTSW 16 17,894,160 (GRCm39) missense probably damaging 1.00
R9361:Prodh UTSW 16 17,898,834 (GRCm39) missense probably benign 0.44
R9568:Prodh UTSW 16 17,902,619 (GRCm39) intron probably benign
R9789:Prodh UTSW 16 17,898,049 (GRCm39) missense probably damaging 1.00
Z1177:Prodh UTSW 16 17,906,891 (GRCm39) missense probably benign 0.34
Predicted Primers PCR Primer
(F):5'- GCATCAAAATGCCAATGAGCTGCC -3'
(R):5'- AGTGCTCTCCTCACTCAGCACATAG -3'

Sequencing Primer
(F):5'- TGCCAATGAGCTGCCTACAC -3'
(R):5'- TCAGCACATAGTCTGATGGC -3'
Posted On 2014-04-24