Incidental Mutation 'IGL01514:Pycr3'
ID 89323
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? Possibly non essential (E-score: 0.274) question?
Stock # IGL01514
Quality Score
Status
Chromosome 15
Chromosomal Location 75788319-75793369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75788853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 240 (T240A)
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: T240A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049605
Gene: ENSMUSG00000022571
AA Change: T240A

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,144,624 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gars1 T A 6: 55,042,505 (GRCm39) S413T probably benign Het
Gnat1 G A 9: 107,553,500 (GRCm39) R253C possibly damaging Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lrp8 T C 4: 107,712,881 (GRCm39) Y377H probably damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pard6g G A 18: 80,160,661 (GRCm39) R258H probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Pycr3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02738:Pycr3 APN 15 75,790,565 (GRCm39) missense probably damaging 0.97
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 2013-12-03