Incidental Mutation 'IGL02738:Pycr3'
ID 305729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pycr3
Ensembl Gene ENSMUSG00000022571
Gene Name pyrroline-5-carboxylate reductase 3
Synonyms 1110058B13Rik, 2700073G24Rik, Pycrl
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # IGL02738
Quality Score
Status
Chromosome 15
Chromosomal Location 75788319-75793369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 75790565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 98 (I98N)
Ref Sequence ENSEMBL: ENSMUSP00000049605 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053918] [ENSMUST00000192937]
AlphaFold Q9DCC4
Predicted Effect probably damaging
Transcript: ENSMUST00000053918
AA Change: I98N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571
AA Change: I98N

DomainStartEndE-ValueType
Pfam:F420_oxidored 10 104 1.2e-17 PFAM
Pfam:P5CR_dimer 166 270 5.2e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192937
SMART Domains Protein: ENSMUSP00000141473
Gene: ENSMUSG00000103906

DomainStartEndE-ValueType
low complexity region 34 55 N/A INTRINSIC
Pfam:CENP-B_N 63 112 1.6e-10 PFAM
CENPB 128 195 1.41e-13 SMART
Pfam:DDE_1 238 377 8.2e-21 PFAM
low complexity region 554 567 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss1 A T 2: 150,466,792 (GRCm39) probably benign Het
Akr1c21 A T 13: 4,630,300 (GRCm39) N198Y probably damaging Het
Anapc11 A T 11: 120,490,102 (GRCm39) K6I probably benign Het
Angel1 G A 12: 86,752,060 (GRCm39) L554F probably benign Het
Arhgap11a A T 2: 113,663,320 (GRCm39) *988K probably null Het
Arnt T A 3: 95,402,631 (GRCm39) probably null Het
Atp1a3 T A 7: 24,689,901 (GRCm39) D519V possibly damaging Het
Bdp1 C A 13: 100,187,861 (GRCm39) A1575S probably benign Het
Bglap G A 3: 88,291,715 (GRCm39) T3I unknown Het
Brca2 C T 5: 150,490,500 (GRCm39) P3054L probably damaging Het
Btn2a2 C A 13: 23,662,976 (GRCm39) E316* probably null Het
C1qtnf9 C T 14: 61,017,388 (GRCm39) T306I probably benign Het
Caprin2 T C 6: 148,744,360 (GRCm39) T1022A probably damaging Het
Cd109 T C 9: 78,598,581 (GRCm39) Y940H probably damaging Het
Cd300ld A G 11: 114,875,076 (GRCm39) L186S probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A T 2: 160,807,618 (GRCm39) S1865R probably benign Het
Chrna2 T C 14: 66,386,889 (GRCm39) V345A probably benign Het
Dnah1 T G 14: 31,014,597 (GRCm39) E1756A probably benign Het
Dnah3 C T 7: 119,564,720 (GRCm39) A2637T probably benign Het
Ern2 A G 7: 121,782,122 (GRCm39) F80S probably damaging Het
Ero1b A G 13: 12,619,322 (GRCm39) I439V possibly damaging Het
Eva1a T G 6: 82,048,211 (GRCm39) S30A probably benign Het
Fer1l4 A G 2: 155,887,648 (GRCm39) L516P probably benign Het
Garin2 T A 12: 78,780,989 (GRCm39) probably benign Het
Hexim2 T C 11: 103,029,103 (GRCm39) S52P probably damaging Het
Hoxb9 A T 11: 96,165,554 (GRCm39) M208L possibly damaging Het
Lbr A G 1: 181,659,778 (GRCm39) V139A probably benign Het
Lcn10 G A 2: 25,574,032 (GRCm39) probably benign Het
Letm2 A G 8: 26,076,789 (GRCm39) I271T probably damaging Het
Lrrc34 T C 3: 30,685,441 (GRCm39) S303G possibly damaging Het
Matn2 C A 15: 34,388,885 (GRCm39) A325D probably benign Het
Mboat4 T C 8: 34,582,258 (GRCm39) L4P probably damaging Het
Mmp1a T A 9: 7,464,301 (GRCm39) probably benign Het
Naip2 T A 13: 100,325,685 (GRCm39) R74S probably benign Het
Neb G T 2: 52,133,862 (GRCm39) Q3374K probably damaging Het
Nup210l A G 3: 90,044,157 (GRCm39) E486G possibly damaging Het
Or4b13 A G 2: 90,082,699 (GRCm39) I211T possibly damaging Het
Or4k51 A C 2: 111,584,699 (GRCm39) Y35S probably damaging Het
Or5m12 A G 2: 85,735,293 (GRCm39) V35A probably benign Het
Or6c69 A T 10: 129,747,200 (GRCm39) probably benign Het
Pde8a A C 7: 80,976,090 (GRCm39) N677H probably damaging Het
Plag1 G A 4: 3,903,812 (GRCm39) Q460* probably null Het
Podnl1 A G 8: 84,858,824 (GRCm39) T550A probably benign Het
Ptpn22 A G 3: 103,781,382 (GRCm39) probably benign Het
Rtn4r A G 16: 17,969,052 (GRCm39) Y160C probably damaging Het
Slc27a4 A G 2: 29,701,238 (GRCm39) N343S probably benign Het
Slc2a4 A G 11: 69,836,940 (GRCm39) Y43H probably damaging Het
Sorbs1 A T 19: 40,365,348 (GRCm39) L145Q probably damaging Het
Speer2 A T 16: 69,658,600 (GRCm39) S22T probably benign Het
Sugp2 G T 8: 70,696,449 (GRCm39) G474V probably damaging Het
Syt3 C T 7: 44,035,447 (GRCm39) S18L possibly damaging Het
Tacc1 T C 8: 25,691,159 (GRCm39) E48G probably damaging Het
Tdrd6 A G 17: 43,931,337 (GRCm39) V2083A probably benign Het
Thra A T 11: 98,655,185 (GRCm39) H355L probably benign Het
Tmem35b C T 4: 127,019,981 (GRCm39) Q34* probably null Het
Unk G T 11: 115,947,017 (GRCm39) G537V probably damaging Het
Usp32 T A 11: 84,974,632 (GRCm39) D92V probably damaging Het
Vmn1r209 G T 13: 22,990,290 (GRCm39) Y133* probably null Het
Vmn1r42 A G 6: 89,821,630 (GRCm39) V313A possibly damaging Het
Vnn1 A G 10: 23,780,520 (GRCm39) I503V probably benign Het
Vwa2 G A 19: 56,886,361 (GRCm39) G143R possibly damaging Het
Other mutations in Pycr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Pycr3 APN 15 75,788,853 (GRCm39) missense probably damaging 1.00
R0019:Pycr3 UTSW 15 75,791,155 (GRCm39) unclassified probably benign
R0426:Pycr3 UTSW 15 75,790,237 (GRCm39) missense probably benign 0.38
R1183:Pycr3 UTSW 15 75,790,647 (GRCm39) missense probably benign 0.14
R2041:Pycr3 UTSW 15 75,791,144 (GRCm39) critical splice acceptor site probably null
R4289:Pycr3 UTSW 15 75,790,655 (GRCm39) missense probably benign 0.00
R4346:Pycr3 UTSW 15 75,790,580 (GRCm39) missense probably damaging 1.00
R7131:Pycr3 UTSW 15 75,790,544 (GRCm39) missense possibly damaging 0.93
R7775:Pycr3 UTSW 15 75,790,138 (GRCm39) missense probably damaging 0.99
R7778:Pycr3 UTSW 15 75,790,138 (GRCm39) missense probably damaging 0.99
R9329:Pycr3 UTSW 15 75,790,563 (GRCm39) missense probably benign 0.44
Posted On 2015-04-16