Incidental Mutation 'R5511:Oplah'
ID 431253
Institutional Source Beutler Lab
Gene Symbol Oplah
Ensembl Gene ENSMUSG00000022562
Gene Name 5-oxoprolinase (ATP-hydrolysing)
Synonyms
MMRRC Submission 043072-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R5511 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76180801-76212215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76189944 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 223 (E223G)
Ref Sequence ENSEMBL: ENSMUSP00000148028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000164189] [ENSMUST00000165279] [ENSMUST00000171340] [ENSMUST00000210024]
AlphaFold Q8K010
Predicted Effect probably benign
Transcript: ENSMUST00000023222
AA Change: E127G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: E127G

DomainStartEndE-ValueType
Pfam:Hydant_A_N 9 212 1.5e-63 PFAM
Pfam:Hydantoinase_A 231 531 6.4e-109 PFAM
low complexity region 629 637 N/A INTRINSIC
Pfam:Hydantoinase_B 734 1256 5.2e-225 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163977
Predicted Effect probably benign
Transcript: ENSMUST00000164189
AA Change: E127G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: E127G

DomainStartEndE-ValueType
Pfam:Hydant_A_N 9 212 9.8e-61 PFAM
Pfam:Hydantoinase_A 231 531 6.9e-103 PFAM
low complexity region 629 637 N/A INTRINSIC
Pfam:Hydantoinase_B 733 853 2.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165279
SMART Domains Protein: ENSMUSP00000127955
Gene: ENSMUSG00000022562

DomainStartEndE-ValueType
Pfam:Hydant_A_N 9 53 8.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170063
Predicted Effect probably benign
Transcript: ENSMUST00000171340
AA Change: E127G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: E127G

DomainStartEndE-ValueType
Pfam:Hydant_A_N 9 212 2.8e-60 PFAM
Pfam:Hydantoinase_A 231 531 6.6e-102 PFAM
low complexity region 629 637 N/A INTRINSIC
Pfam:Hydantoinase_B 733 1260 8.2e-190 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000210024
AA Change: E223G

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230735
Meta Mutation Damage Score 0.1026 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency 98% (81/83)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene acts as a homodimer, using ATP hydrolysis to catalyze the conversion of 5-oxo-L-proline to L-glutamate. Defects in this gene are a cause of 5-oxoprolinase deficiency (OPLAHD). [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,654,685 (GRCm39) L173P probably damaging Het
Agl A T 3: 116,582,209 (GRCm39) V271D possibly damaging Het
Alox15 G T 11: 70,240,808 (GRCm39) P191T probably benign Het
Apaf1 T C 10: 90,890,254 (GRCm39) Y583C probably damaging Het
Aqp9 T A 9: 71,070,375 (GRCm39) probably benign Het
Bms1 A G 6: 118,365,848 (GRCm39) F1113L possibly damaging Het
Cap1 A C 4: 122,756,583 (GRCm39) probably benign Het
Car11 T C 7: 45,349,885 (GRCm39) W35R probably damaging Het
Casc3 T A 11: 98,701,740 (GRCm39) Y91* probably null Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cd22 A T 7: 30,569,496 (GRCm39) I540N probably damaging Het
Chad A T 11: 94,456,072 (GRCm39) E50V probably damaging Het
Chd3 C G 11: 69,252,301 (GRCm39) G34R probably damaging Het
Col9a1 T C 1: 24,218,619 (GRCm39) V77A unknown Het
Copg1 G A 6: 87,889,276 (GRCm39) V873M probably damaging Het
Dnhd1 T A 7: 105,363,363 (GRCm39) V3975E probably damaging Het
Dock6 A T 9: 21,728,703 (GRCm39) V1290D possibly damaging Het
Elp2 A T 18: 24,745,507 (GRCm39) K150* probably null Het
Eri3 A C 4: 117,472,386 (GRCm39) Y260S possibly damaging Het
Esrrg C T 1: 187,943,304 (GRCm39) L426F probably damaging Het
Farp1 G T 14: 121,474,584 (GRCm39) V266L probably damaging Het
Flnc A G 6: 29,458,897 (GRCm39) E2459G probably damaging Het
Glis1 G A 4: 107,293,074 (GRCm39) D66N probably damaging Het
Gm14129 T A 2: 148,773,446 (GRCm39) noncoding transcript Het
Gm28051 A G 12: 102,686,415 (GRCm39) *82R probably null Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gne C T 4: 44,041,843 (GRCm39) V485M probably damaging Het
Lcn10 T A 2: 25,572,841 (GRCm39) V15E probably benign Het
Mapk11 T A 15: 89,029,380 (GRCm39) probably null Het
Me3 T G 7: 89,455,876 (GRCm39) Y243D probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myo1h T A 5: 114,483,958 (GRCm39) L519* probably null Het
Myo9a T C 9: 59,687,495 (GRCm39) V200A probably damaging Het
Mzf1 T A 7: 12,785,526 (GRCm39) Q161H possibly damaging Het
Nim1k T G 13: 120,189,130 (GRCm39) H93P probably damaging Het
Nkx6-1 C A 5: 101,811,532 (GRCm39) R190L probably damaging Het
Noc3l A G 19: 38,782,625 (GRCm39) V671A probably benign Het
Nsd1 T C 13: 55,460,543 (GRCm39) S2257P probably benign Het
Nup210 T A 6: 91,003,945 (GRCm39) I648F probably damaging Het
Or5b120 T C 19: 13,480,556 (GRCm39) M283T probably benign Het
Plekhs1 A C 19: 56,474,224 (GRCm39) T457P probably damaging Het
Plppr4 G A 3: 117,119,551 (GRCm39) T286I probably benign Het
Prpf4b T C 13: 35,068,037 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,878 (GRCm39) D318E possibly damaging Het
Psap A G 10: 60,134,959 (GRCm39) E289G possibly damaging Het
Rad17 A G 13: 100,764,157 (GRCm39) V438A possibly damaging Het
Raf1 T C 6: 115,597,217 (GRCm39) S28G probably benign Het
Ranbp2 A G 10: 58,329,561 (GRCm39) D2978G probably benign Het
Rnf170 T A 8: 26,631,027 (GRCm39) D213E probably damaging Het
Rsph3a T A 17: 8,164,905 (GRCm39) H88Q possibly damaging Het
Scd1 A G 19: 44,395,198 (GRCm39) I9T probably benign Het
Sgk3 T C 1: 9,968,911 (GRCm39) probably benign Het
Slc14a1 C T 18: 78,145,686 (GRCm39) S416N probably benign Het
Smok4a T C 17: 13,746,474 (GRCm39) noncoding transcript Het
Sostdc1 A T 12: 36,367,165 (GRCm39) I114F probably damaging Het
Spen G A 4: 141,202,375 (GRCm39) T2084I possibly damaging Het
Spen G T 4: 141,244,149 (GRCm39) D295E unknown Het
Sptbn5 T C 2: 119,890,202 (GRCm39) probably benign Het
Srebf1 T C 11: 60,101,184 (GRCm39) probably benign Het
Tcea3 A T 4: 135,998,683 (GRCm39) Y319F probably damaging Het
Timd4 T A 11: 46,710,807 (GRCm39) probably null Het
Tmem88b G A 4: 155,870,002 (GRCm39) P20S probably damaging Het
Tsen2 T A 6: 115,538,365 (GRCm39) C281S probably damaging Het
Vmn2r28 T C 7: 5,487,011 (GRCm39) T551A possibly damaging Het
Vmn2r45 T C 7: 8,474,832 (GRCm39) H732R probably benign Het
Wdr90 A G 17: 26,063,995 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,344,836 (GRCm39) S1072P probably benign Het
Zfp148 A G 16: 33,255,004 (GRCm39) probably benign Het
Zfp2 T A 11: 50,790,851 (GRCm39) E397D probably damaging Het
Zfp729b A G 13: 67,740,499 (GRCm39) F599L probably damaging Het
Other mutations in Oplah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Oplah APN 15 76,189,948 (GRCm39) missense probably damaging 1.00
IGL01132:Oplah APN 15 76,185,157 (GRCm39) missense probably benign 0.28
IGL02252:Oplah APN 15 76,188,964 (GRCm39) missense probably damaging 1.00
IGL02493:Oplah APN 15 76,185,155 (GRCm39) nonsense probably null
R0033:Oplah UTSW 15 76,181,334 (GRCm39) missense probably benign 0.03
R0418:Oplah UTSW 15 76,182,687 (GRCm39) missense probably benign 0.06
R0609:Oplah UTSW 15 76,187,192 (GRCm39) missense probably benign 0.00
R1374:Oplah UTSW 15 76,190,755 (GRCm39) missense probably damaging 0.99
R1419:Oplah UTSW 15 76,182,120 (GRCm39) missense probably benign 0.41
R1703:Oplah UTSW 15 76,180,867 (GRCm39) missense probably benign 0.02
R1733:Oplah UTSW 15 76,186,683 (GRCm39) nonsense probably null
R1959:Oplah UTSW 15 76,181,664 (GRCm39) missense probably damaging 1.00
R1960:Oplah UTSW 15 76,181,664 (GRCm39) missense probably damaging 1.00
R1961:Oplah UTSW 15 76,181,664 (GRCm39) missense probably damaging 1.00
R2290:Oplah UTSW 15 76,186,925 (GRCm39) missense probably benign 0.00
R3552:Oplah UTSW 15 76,186,294 (GRCm39) missense possibly damaging 0.78
R4019:Oplah UTSW 15 76,181,476 (GRCm39) missense probably damaging 1.00
R4020:Oplah UTSW 15 76,181,476 (GRCm39) missense probably damaging 1.00
R4207:Oplah UTSW 15 76,186,910 (GRCm39) missense probably damaging 1.00
R4512:Oplah UTSW 15 76,182,155 (GRCm39) missense probably damaging 1.00
R4514:Oplah UTSW 15 76,182,155 (GRCm39) missense probably damaging 1.00
R4525:Oplah UTSW 15 76,189,709 (GRCm39) missense probably damaging 1.00
R4803:Oplah UTSW 15 76,186,968 (GRCm39) missense probably damaging 1.00
R5042:Oplah UTSW 15 76,189,909 (GRCm39) nonsense probably null
R5259:Oplah UTSW 15 76,185,410 (GRCm39) splice site probably null
R5284:Oplah UTSW 15 76,190,759 (GRCm39) missense probably benign 0.00
R5503:Oplah UTSW 15 76,189,646 (GRCm39) critical splice donor site probably null
R5549:Oplah UTSW 15 76,182,466 (GRCm39) missense probably damaging 0.98
R5594:Oplah UTSW 15 76,180,837 (GRCm39) makesense probably null
R5631:Oplah UTSW 15 76,189,441 (GRCm39) missense probably benign 0.01
R5849:Oplah UTSW 15 76,181,547 (GRCm39) unclassified probably benign
R6776:Oplah UTSW 15 76,185,053 (GRCm39) missense possibly damaging 0.94
R7105:Oplah UTSW 15 76,181,887 (GRCm39) missense probably damaging 1.00
R7146:Oplah UTSW 15 76,186,860 (GRCm39) missense probably benign
R7267:Oplah UTSW 15 76,189,209 (GRCm39) missense probably benign 0.00
R7403:Oplah UTSW 15 76,189,209 (GRCm39) missense probably benign 0.00
R7786:Oplah UTSW 15 76,193,916 (GRCm39) missense possibly damaging 0.93
R8029:Oplah UTSW 15 76,189,896 (GRCm39) missense probably benign
R8054:Oplah UTSW 15 76,190,457 (GRCm39) missense probably benign 0.00
R8202:Oplah UTSW 15 76,186,669 (GRCm39) missense probably benign 0.22
R8913:Oplah UTSW 15 76,181,680 (GRCm39) missense
R9025:Oplah UTSW 15 76,187,417 (GRCm39) missense probably benign 0.01
R9106:Oplah UTSW 15 76,189,876 (GRCm39) missense probably benign 0.13
R9130:Oplah UTSW 15 76,185,098 (GRCm39) missense possibly damaging 0.67
R9364:Oplah UTSW 15 76,193,787 (GRCm39) missense probably benign 0.16
R9554:Oplah UTSW 15 76,193,787 (GRCm39) missense probably benign 0.16
R9780:Oplah UTSW 15 76,181,940 (GRCm39) missense probably damaging 0.99
X0065:Oplah UTSW 15 76,189,363 (GRCm39) nonsense probably null
Z1177:Oplah UTSW 15 76,182,687 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CTGTACAGCCTGAAACAAGC -3'
(R):5'- AAGAAGCTGCCCTCTTGAGG -3'

Sequencing Primer
(F):5'- GTACAGCCTGAAACAAGCCCAAAG -3'
(R):5'- CCCTCTTGAGGTAGGGTGC -3'
Posted On 2016-10-05