Incidental Mutation 'IGL01811:Pycr1'
ID 154268
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pycr1
Ensembl Gene ENSMUSG00000025140
Gene Name pyrroline-5-carboxylate reductase 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01811
Quality Score
Status
Chromosome 11
Chromosomal Location 120527591-120534602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120532092 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 225 (S225C)
Ref Sequence ENSEMBL: ENSMUSP00000131199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000170556] [ENSMUST00000151876]
AlphaFold Q922W5
Predicted Effect probably benign
Transcript: ENSMUST00000026133
AA Change: S225C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140
AA Change: S225C

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 5e-23 PFAM
Pfam:NAD_Gly3P_dh_N 2 144 9e-9 PFAM
Pfam:P5CR_dimer 162 268 2e-42 PFAM
low complexity region 292 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026134
SMART Domains Protein: ENSMUSP00000026134
Gene: ENSMUSG00000025141

DomainStartEndE-ValueType
Pfam:MARVEL 17 149 3.3e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133908
Predicted Effect probably benign
Transcript: ENSMUST00000139706
SMART Domains Protein: ENSMUSP00000117737
Gene: ENSMUSG00000025140

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 8.9e-25 PFAM
Pfam:NAD_Gly3P_dh_N 2 145 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141254
AA Change: S225C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140
AA Change: S225C

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 2.5e-24 PFAM
Pfam:NAD_Gly3P_dh_N 2 145 3.5e-9 PFAM
Pfam:P5CR_dimer 162 238 6.3e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145047
Predicted Effect probably benign
Transcript: ENSMUST00000170556
AA Change: S225C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140
AA Change: S225C

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 8.4e-24 PFAM
Pfam:P5CR_dimer 163 267 2.3e-40 PFAM
low complexity region 292 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151876
SMART Domains Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140

DomainStartEndE-ValueType
Pfam:F420_oxidored 1 68 5.7e-13 PFAM
Pfam:NAD_Gly3P_dh_N 13 119 3e-8 PFAM
Pfam:P5CR_dimer 132 164 2.2e-12 PFAM
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 an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aggf1 G A 13: 95,488,080 (GRCm39) T689I probably benign Het
Ap1m2 A G 9: 21,210,600 (GRCm39) V343A probably benign Het
Ccbe1 A G 18: 66,199,798 (GRCm39) probably null Het
Cd1d1 T C 3: 86,903,895 (GRCm39) I204V possibly damaging Het
Cpeb3 G A 19: 37,022,008 (GRCm39) R613C probably damaging Het
Dock9 A T 14: 121,796,440 (GRCm39) F1821I probably damaging Het
Dst A T 1: 34,203,173 (GRCm39) Q694L probably damaging Het
Kansl1l A G 1: 66,762,462 (GRCm39) S802P probably damaging Het
Meltf T C 16: 31,707,803 (GRCm39) C397R probably damaging Het
Myo1d A T 11: 80,583,823 (GRCm39) V63D probably damaging Het
Or4c101 C T 2: 88,390,409 (GRCm39) L199F probably benign Het
Tbc1d9 T A 8: 83,960,307 (GRCm39) C187S probably damaging Het
Tnfrsf21 A C 17: 43,348,504 (GRCm39) I39L probably benign Het
Tnn T C 1: 159,934,705 (GRCm39) D972G probably damaging Het
Other mutations in Pycr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0285:Pycr1 UTSW 11 120,531,142 (GRCm39) missense probably benign 0.01
R0400:Pycr1 UTSW 11 120,532,352 (GRCm39) splice site probably benign
R2047:Pycr1 UTSW 11 120,532,512 (GRCm39) missense possibly damaging 0.89
R3548:Pycr1 UTSW 11 120,533,072 (GRCm39) missense probably benign 0.22
R3925:Pycr1 UTSW 11 120,532,961 (GRCm39) missense probably benign 0.09
R3926:Pycr1 UTSW 11 120,532,961 (GRCm39) missense probably benign 0.09
R4166:Pycr1 UTSW 11 120,532,949 (GRCm39) missense probably benign 0.00
R5261:Pycr1 UTSW 11 120,532,050 (GRCm39) missense probably damaging 1.00
R5906:Pycr1 UTSW 11 120,532,988 (GRCm39) missense probably damaging 0.98
R7426:Pycr1 UTSW 11 120,533,749 (GRCm39) missense probably benign 0.02
R7985:Pycr1 UTSW 11 120,533,746 (GRCm39) missense probably benign
Posted On 2014-02-04