Incidental Mutation 'IGL02132:Pycr2'
ID 281044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pycr2
Ensembl Gene ENSMUSG00000026520
Gene Name pyrroline-5-carboxylate reductase family, member 2
Synonyms P5cr2, 1810018M05Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02132
Quality Score
Status
Chromosome 1
Chromosomal Location 180731858-180735653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 180733762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 118 (I118T)
Ref Sequence ENSEMBL: ENSMUSP00000027802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027802]
AlphaFold Q922Q4
Predicted Effect probably damaging
Transcript: ENSMUST00000027802
AA Change: I118T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000027802
Gene: ENSMUSG00000026520
AA Change: I118T

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513I03Rik G A 10: 120,614,635 (GRCm39) probably benign Het
4930432E11Rik C T 7: 29,262,704 (GRCm39) noncoding transcript Het
Adcy10 T C 1: 165,400,112 (GRCm39) V1507A probably damaging Het
Ap3b2 T A 7: 81,110,746 (GRCm39) M1010L unknown Het
Bmp10 T C 6: 87,411,130 (GRCm39) S308P probably benign Het
Cnih3 C A 1: 181,282,274 (GRCm39) Y169* probably null Het
Cpsf4l A G 11: 113,590,685 (GRCm39) S222P possibly damaging Het
Cyp2d10 G A 15: 82,288,808 (GRCm39) probably benign Het
Dcstamp A T 15: 39,617,928 (GRCm39) E112D probably damaging Het
Fras1 C T 5: 96,929,496 (GRCm39) Q3967* probably null Het
Gcm1 C A 9: 77,972,121 (GRCm39) P354H possibly damaging Het
Gen1 A G 12: 11,291,867 (GRCm39) S706P probably benign Het
Glb1l3 G T 9: 26,736,466 (GRCm39) T532N probably benign Het
Gm5069 T A 1: 180,154,872 (GRCm39) probably benign Het
Gzmc A C 14: 56,471,422 (GRCm39) F40V probably benign Het
Itgb2 G T 10: 77,385,895 (GRCm39) C286F probably damaging Het
Jak3 A G 8: 72,131,124 (GRCm39) Y48C probably damaging Het
Lrp2 G A 2: 69,367,960 (GRCm39) S184L probably benign Het
Myo1f T A 17: 33,798,945 (GRCm39) N203K probably benign Het
Nrxn2 G A 19: 6,522,306 (GRCm39) G182R probably damaging Het
Or4k15c T C 14: 50,321,943 (GRCm39) N65S probably damaging Het
Or4p8 A G 2: 88,727,503 (GRCm39) V146A probably benign Het
Or5g23 A C 2: 85,438,664 (GRCm39) L197V probably benign Het
Otog C T 7: 45,954,903 (GRCm39) S2692L probably damaging Het
Pde9a C T 17: 31,672,444 (GRCm39) T34I probably benign Het
Phip T C 9: 82,763,394 (GRCm39) T1295A possibly damaging Het
Pik3cb A G 9: 98,953,430 (GRCm39) V451A probably benign Het
Psd2 T G 18: 36,137,809 (GRCm39) probably benign Het
Rnf17 T G 14: 56,658,623 (GRCm39) M104R probably benign Het
Rp1l1 T C 14: 64,266,259 (GRCm39) V615A probably benign Het
Sel1l3 T A 5: 53,327,747 (GRCm39) R511W possibly damaging Het
Sis T C 3: 72,854,804 (GRCm39) N478D probably benign Het
Trps1 T A 15: 50,685,674 (GRCm39) S584C probably damaging Het
Vmn2r124 T C 17: 18,284,491 (GRCm39) probably benign Het
Vmn2r9 G A 5: 108,991,502 (GRCm39) L620F probably damaging Het
Zc3h13 T C 14: 75,567,787 (GRCm39) S1027P probably benign Het
Zfp644 A T 5: 106,783,760 (GRCm39) I929K probably benign Het
Other mutations in Pycr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Pycr2 APN 1 180,733,958 (GRCm39) splice site probably benign
IGL02887:Pycr2 APN 1 180,732,304 (GRCm39) splice site probably null
bridalgown UTSW 1 180,734,397 (GRCm39) nonsense probably null
offwhite UTSW 1 180,733,801 (GRCm39) missense probably damaging 1.00
R2148:Pycr2 UTSW 1 180,734,413 (GRCm39) missense probably damaging 1.00
R5240:Pycr2 UTSW 1 180,735,188 (GRCm39) missense probably benign
R6088:Pycr2 UTSW 1 180,733,801 (GRCm39) missense probably damaging 1.00
R7153:Pycr2 UTSW 1 180,734,247 (GRCm39) missense probably damaging 0.98
R7569:Pycr2 UTSW 1 180,732,083 (GRCm39) missense probably benign 0.06
R7780:Pycr2 UTSW 1 180,733,913 (GRCm39) missense probably damaging 1.00
R8540:Pycr2 UTSW 1 180,734,178 (GRCm39) missense possibly damaging 0.48
R9182:Pycr2 UTSW 1 180,734,397 (GRCm39) nonsense probably null
R9213:Pycr2 UTSW 1 180,733,473 (GRCm39) missense probably benign 0.05
X0017:Pycr2 UTSW 1 180,733,888 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16