Incidental Mutation 'IGL00920:Pycr2'
ID26635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pycr2
Ensembl Gene ENSMUSG00000026520
Gene Namepyrroline-5-carboxylate reductase family, member 2
Synonyms1810018M05Rik, P5cr2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00920
Quality Score
Status
Chromosome1
Chromosomal Location180904293-180908088 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 180906393 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027802]
Predicted Effect probably benign
Transcript: ENSMUST00000027802
SMART Domains Protein: ENSMUSP00000027802
Gene: ENSMUSG00000026520

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 2.1e-21 PFAM
Pfam:P5CR_dimer 163 267 4.4e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194026
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195270
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 belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cd209e T C 8: 3,849,187 D175G probably damaging Het
Cep78 T C 19: 15,981,486 I165V probably benign Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Dpp9 T C 17: 56,200,599 T357A probably benign Het
Gm42416 T A 18: 36,952,767 M1K probably null Het
Gm428 T A 4: 73,687,442 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh5 A T 12: 74,976,493 D600E probably damaging Het
Ndst4 A G 3: 125,438,211 D143G probably damaging Het
Nrros A G 16: 32,147,620 F14S probably benign Het
Olfr1009 A T 2: 85,722,239 Y278F probably damaging Het
Olfr971 T C 9: 39,839,934 F167L probably benign Het
Pcdh7 A T 5: 57,720,131 I343F probably damaging Het
Piwil4 C T 9: 14,727,437 R264H probably damaging Het
Pnpt1 A G 11: 29,157,087 probably benign Het
Rfx7 T A 9: 72,593,356 Y133N probably damaging Het
Slc17a3 A G 13: 23,856,481 I263V probably benign Het
Spink5 A T 18: 44,003,209 E562D probably damaging Het
Spty2d1 T C 7: 46,998,987 R65G probably damaging Het
Thbs1 C T 2: 118,113,201 T100I probably damaging Het
Triml1 T C 8: 43,138,682 N213S probably damaging Het
Trp53bp2 T C 1: 182,444,654 probably benign Het
Vmn2r9 T C 5: 108,848,024 I253V possibly damaging Het
Zan C T 5: 137,464,524 V798I unknown Het
Zfp608 C T 18: 54,889,831 M1504I probably benign Het
Other mutations in Pycr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Pycr2 APN 1 180906197 missense probably damaging 0.99
IGL02887:Pycr2 APN 1 180904739 splice site probably null
offwhite UTSW 1 180906236 missense probably damaging 1.00
R2148:Pycr2 UTSW 1 180906848 missense probably damaging 1.00
R5240:Pycr2 UTSW 1 180907623 missense probably benign
R6088:Pycr2 UTSW 1 180906236 missense probably damaging 1.00
R7153:Pycr2 UTSW 1 180906682 missense probably damaging 0.98
R7569:Pycr2 UTSW 1 180904518 missense probably benign 0.06
R7780:Pycr2 UTSW 1 180906348 missense probably damaging 1.00
X0017:Pycr2 UTSW 1 180906323 missense probably benign 0.11
Posted On2013-04-17