Incidental Mutation 'R2047:Pycr1'
ID 222139
Institutional Source Beutler Lab
Gene Symbol Pycr1
Ensembl Gene ENSMUSG00000025140
Gene Name pyrroline-5-carboxylate reductase 1
Synonyms
MMRRC Submission 040054-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2047 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120527591-120534602 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120532512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 168 (D168E)
Ref Sequence ENSEMBL: ENSMUSP00000131199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026133] [ENSMUST00000026134] [ENSMUST00000139706] [ENSMUST00000141254] [ENSMUST00000170556] [ENSMUST00000151876]
AlphaFold Q922W5
Predicted Effect possibly damaging
Transcript: ENSMUST00000026133
AA Change: D168E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026133
Gene: ENSMUSG00000025140
AA Change: D168E

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 possibly damaging
Transcript: ENSMUST00000141254
AA Change: D168E

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000114863
Gene: ENSMUSG00000025140
AA Change: D168E

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 possibly damaging
Transcript: ENSMUST00000170556
AA Change: D168E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000131199
Gene: ENSMUSG00000025140
AA Change: D168E

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 possibly damaging
Transcript: ENSMUST00000151876
AA Change: D138E

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120558
Gene: ENSMUSG00000025140
AA Change: D138E

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
Meta Mutation Damage Score 0.6130 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.4%
Validation Efficiency 100% (57/57)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,747,836 (GRCm39) F52S probably damaging Het
Acot12 T C 13: 91,931,122 (GRCm39) S457P probably damaging Het
Adcy5 G A 16: 35,110,478 (GRCm39) V882M possibly damaging Het
Ahnak A G 19: 8,991,664 (GRCm39) D4316G possibly damaging Het
Aldh1l2 G A 10: 83,342,607 (GRCm39) A401V probably damaging Het
Apol7e A G 15: 77,601,810 (GRCm39) H136R probably benign Het
Arl5a A G 2: 52,302,072 (GRCm39) probably null Het
Asns G T 6: 7,680,093 (GRCm39) A341E probably damaging Het
C7 A G 15: 5,075,143 (GRCm39) L183P probably damaging Het
Cacng2 C T 15: 78,003,037 (GRCm39) A19T probably damaging Het
Ccdc121rt2 A G 5: 112,598,575 (GRCm39) N374S probably benign Het
Ccr4 A G 9: 114,321,633 (GRCm39) F144S probably damaging Het
Ckap2 A G 8: 22,658,763 (GRCm39) V660A probably benign Het
Cramp1 A T 17: 25,222,189 (GRCm39) Y176* probably null Het
Dgki A G 6: 36,890,581 (GRCm39) S922P possibly damaging Het
Drd5 C T 5: 38,477,679 (GRCm39) S224L probably damaging Het
Ei24 T C 9: 36,691,459 (GRCm39) K341E probably benign Het
Eno2 A T 6: 124,744,659 (GRCm39) probably benign Het
Epb41l4a T C 18: 33,961,259 (GRCm39) N425S probably benign Het
F13b T G 1: 139,435,961 (GRCm39) C256G probably damaging Het
Gp6 A T 7: 4,376,270 (GRCm39) probably benign Het
H2-Q7 A T 17: 35,659,123 (GRCm39) R191S probably damaging Het
Ivns1abp T A 1: 151,227,382 (GRCm39) S63R possibly damaging Het
Kcnj16 A G 11: 110,915,946 (GRCm39) probably null Het
Lpcat4 T C 2: 112,075,142 (GRCm39) probably null Het
Lrrc14b T C 13: 74,511,561 (GRCm39) K173R probably benign Het
Maml3 C A 3: 51,597,866 (GRCm39) R939S probably damaging Het
Mrgpra2b C T 7: 47,113,908 (GRCm39) V249I probably benign Het
Mrpl46 T A 7: 78,431,312 (GRCm39) Y82F probably damaging Het
Mthfs T A 9: 89,097,356 (GRCm39) I71N probably damaging Het
Nectin4 T C 1: 171,212,720 (GRCm39) V351A possibly damaging Het
Npas3 T C 12: 54,115,612 (GRCm39) F827L probably damaging Het
Nrp1 G A 8: 129,224,577 (GRCm39) probably benign Het
Ocln C A 13: 100,671,632 (GRCm39) A242S probably damaging Het
Or10ad1c T A 15: 98,084,920 (GRCm39) T253S probably damaging Het
Or13g1 G A 7: 85,956,012 (GRCm39) T103I probably damaging Het
Or5d37 A T 2: 87,924,237 (GRCm39) N14K probably benign Het
Pappa T C 4: 65,149,378 (GRCm39) probably benign Het
Ptpn6 T C 6: 124,698,752 (GRCm39) T480A probably benign Het
Rnf6 T C 5: 146,148,674 (GRCm39) T126A probably damaging Het
Slc25a39 G A 11: 102,296,657 (GRCm39) probably benign Het
Slc35f4 G T 14: 49,541,029 (GRCm39) probably benign Het
Sppl2a C T 2: 126,768,772 (GRCm39) A112T probably damaging Het
Sptbn1 A C 11: 30,088,360 (GRCm39) probably benign Het
Sqle T C 15: 59,197,907 (GRCm39) Y376H probably benign Het
Terb1 A T 8: 105,212,094 (GRCm39) Y296N probably damaging Het
Ttbk2 T C 2: 120,579,397 (GRCm39) H506R probably damaging Het
Ttn T C 2: 76,737,879 (GRCm39) D4220G probably benign Het
Tub A G 7: 108,625,939 (GRCm39) D230G probably benign Het
Ube2d3 T A 3: 135,170,967 (GRCm39) I137K probably benign Het
Vldlr G T 19: 27,212,238 (GRCm39) C84F probably damaging Het
Vmn1r54 A T 6: 90,246,970 (GRCm39) I295F probably damaging Het
Vmn2r56 A G 7: 12,466,918 (GRCm39) S39P probably damaging Het
Zfp358 A G 8: 3,545,934 (GRCm39) H172R probably damaging Het
Zfp619 T C 7: 39,187,062 (GRCm39) C1031R probably damaging Het
Zfp777 A G 6: 48,021,280 (GRCm39) I114T probably benign Het
Other mutations in Pycr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01811:Pycr1 APN 11 120,532,092 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- ATTTTCACACCACCGTCAGC -3'
(R):5'- TCTTCCAGAAGCTGACAGC -3'

Sequencing Primer
(F):5'- AGAGCATCCAGGGCTGTG -3'
(R):5'- TGACAGCGTTCCAACCTG -3'
Posted On 2014-08-25