Incidental Mutation 'R9213:Pycr2'
ID 698975
Institutional Source Beutler Lab
Gene Symbol Pycr2
Ensembl Gene ENSMUSG00000026520
Gene Name pyrroline-5-carboxylate reductase family, member 2
Synonyms P5cr2, 1810018M05Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 180731858-180735653 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 180733473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000027802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027802]
AlphaFold Q922Q4
Predicted Effect probably benign
Transcript: ENSMUST00000027802
AA Change: D58G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000027802
Gene: ENSMUSG00000026520
AA Change: D58G

DomainStartEndE-ValueType
Pfam:F420_oxidored 2 98 2.1e-21 PFAM
Pfam:P5CR_dimer 163 267 4.4e-39 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts6 T A 13: 104,581,440 (GRCm39) C852S probably damaging Het
Arf1 A G 11: 59,104,186 (GRCm39) V43A probably damaging Het
Arhgef26 T A 3: 62,340,000 (GRCm39) M674K probably benign Het
Asb1 A C 1: 91,482,531 (GRCm39) K314N probably damaging Het
Aste1 T C 9: 105,274,294 (GRCm39) F178S probably damaging Het
Avl9 T C 6: 56,720,441 (GRCm39) F493S probably damaging Het
BC024139 T C 15: 76,009,422 (GRCm39) Y220C probably benign Het
Ccdc60 T C 5: 116,328,185 (GRCm39) E93G probably damaging Het
Cep112 A G 11: 108,377,779 (GRCm39) H295R probably benign Het
Chd3 T C 11: 69,255,628 (GRCm39) K87E possibly damaging Het
Chordc1 G T 9: 18,223,789 (GRCm39) probably null Het
Ciita A T 16: 10,319,742 (GRCm39) D55V probably damaging Het
Cklf T C 8: 104,988,125 (GRCm39) V86A probably damaging Het
Clock T A 5: 76,393,376 (GRCm39) N189I possibly damaging Het
Dnah14 T C 1: 181,444,205 (GRCm39) probably null Het
Dpep3 C G 8: 106,700,245 (GRCm39) C487S probably benign Het
Dtwd2 A G 18: 49,856,799 (GRCm39) F163L probably benign Het
Eln C T 5: 134,735,456 (GRCm39) V776M unknown Het
Fanci T A 7: 79,055,971 (GRCm39) M201K possibly damaging Het
Frmd4a A G 2: 4,608,372 (GRCm39) T747A probably damaging Het
Galnt9 T A 5: 110,767,108 (GRCm39) C526* probably null Het
Garnl3 T C 2: 32,895,080 (GRCm39) E663G probably damaging Het
Gdpd5 T C 7: 99,100,945 (GRCm39) S247P probably damaging Het
Gm4846 C T 1: 166,322,142 (GRCm39) D142N probably damaging Het
Kbtbd2 T A 6: 56,756,917 (GRCm39) E273V probably damaging Het
Klk1b11 A G 7: 43,648,428 (GRCm39) E145G possibly damaging Het
Mmp1a G T 9: 7,475,364 (GRCm39) V378F possibly damaging Het
Mon2 G T 10: 122,872,016 (GRCm39) S336* probably null Het
Mrgprh T A 17: 13,095,917 (GRCm39) N52K probably damaging Het
Myo9a T C 9: 59,772,922 (GRCm39) F985L probably benign Het
Nek3 T C 8: 22,638,677 (GRCm39) N207S probably benign Het
Nkpd1 A G 7: 19,258,009 (GRCm39) D596G probably damaging Het
Oc90 C A 15: 65,761,557 (GRCm39) E154* probably null Het
Or8b101 T A 9: 38,020,426 (GRCm39) M143K possibly damaging Het
Or8b3 C A 9: 38,315,047 (GRCm39) Y292* probably null Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,358,874 (GRCm39) Y361C probably damaging Het
Polr2h T C 16: 20,539,285 (GRCm39) Y90H possibly damaging Het
Potefam1 T A 2: 111,020,699 (GRCm39) R136S unknown Het
Ppp1r26 A G 2: 28,343,649 (GRCm39) N1093S probably benign Het
Prex1 G T 2: 166,417,669 (GRCm39) R1313S probably damaging Het
Ptprh A T 7: 4,583,911 (GRCm39) V227E probably damaging Het
Rad54b G T 4: 11,609,321 (GRCm39) E591* probably null Het
Rptor T C 11: 119,494,765 (GRCm39) S44P probably benign Het
Safb2 T A 17: 56,882,602 (GRCm39) T344S probably benign Het
Samd9l T C 6: 3,376,856 (GRCm39) E135G probably benign Het
Sec23a A T 12: 59,048,708 (GRCm39) I167N probably damaging Het
Shoc2 C T 19: 54,016,231 (GRCm39) T415I probably benign Het
Sobp T C 10: 42,898,374 (GRCm39) I404V probably benign Het
Ssbp4 G T 8: 71,052,395 (GRCm39) L147I probably benign Het
Sspo G A 6: 48,440,869 (GRCm39) R1777H possibly damaging Het
Syt14 A G 1: 192,612,814 (GRCm39) V379A probably damaging Het
Tat T G 8: 110,722,820 (GRCm39) I294S probably damaging Het
Tcf19 A G 17: 35,825,899 (GRCm39) V86A probably damaging Het
Tfap2a T A 13: 40,870,875 (GRCm39) I338F possibly damaging Het
Tmco6 C A 18: 36,872,384 (GRCm39) N365K probably damaging Het
Tmub2 G A 11: 102,178,475 (GRCm39) R164K Het
Togaram1 A G 12: 65,065,906 (GRCm39) I1637V possibly damaging Het
Wdr49 A C 3: 75,205,419 (GRCm39) S666A probably benign Het
Ybx1 T A 4: 119,138,794 (GRCm39) Y236F possibly damaging Het
Zfhx3 T A 8: 109,676,756 (GRCm39) I2602N probably benign Het
Other mutations in Pycr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Pycr2 APN 1 180,733,958 (GRCm39) splice site probably benign
IGL02132:Pycr2 APN 1 180,733,762 (GRCm39) missense probably damaging 0.99
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
X0017:Pycr2 UTSW 1 180,733,888 (GRCm39) missense probably benign 0.11
Predicted Primers PCR Primer
(F):5'- ATAGTCACGGAGCCCTGAAG -3'
(R):5'- AACTGAGTGTCCAGGACATAGC -3'

Sequencing Primer
(F):5'- CCCTGAAGGCACAGAACAGAG -3'
(R):5'- ACATAGCTCCCTCGGATCTGAG -3'
Posted On 2022-02-07