Incidental Mutation 'R0418:Oplah'
ID 36893
Institutional Source Beutler Lab
Gene Symbol Oplah
Ensembl Gene ENSMUSG00000022562
Gene Name 5-oxoprolinase (ATP-hydrolysing)
Synonyms
MMRRC Submission 038620-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R0418 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76180801-76212215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76182687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 924 (R924H)
Ref Sequence ENSEMBL: ENSMUSP00000129100 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000163991] [ENSMUST00000164189] [ENSMUST00000171340] [ENSMUST00000171192]
AlphaFold Q8K010
Predicted Effect probably benign
Transcript: ENSMUST00000023222
AA Change: R924H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: R924H

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: ENSMUST00000096370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163127
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163977
Predicted Effect probably benign
Transcript: ENSMUST00000163991
SMART Domains Protein: ENSMUSP00000134687
Gene: ENSMUSG00000071724

DomainStartEndE-ValueType
transmembrane domain 77 99 N/A INTRINSIC
Pfam:Exo_endo_phos 176 471 4.1e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164189
SMART Domains Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562

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: ENSMUST00000171340
AA Change: R924H

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: R924H

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 noncoding transcript
Transcript: ENSMUST00000170063
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169664
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167433
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170261
Predicted Effect probably benign
Transcript: ENSMUST00000171192
SMART Domains Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724

DomainStartEndE-ValueType
low complexity region 35 46 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230735
Meta Mutation Damage Score 0.2080 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 98% (64/65)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik G T 2: 103,953,675 (GRCm39) probably null Het
Abca14 T C 7: 119,806,657 (GRCm39) L19P probably damaging Het
Abcb1a T A 5: 8,763,281 (GRCm39) V603E probably damaging Het
Acsl5 A G 19: 55,261,238 (GRCm39) D65G probably benign Het
Acss3 T C 10: 106,859,773 (GRCm39) Y311C probably damaging Het
Ak8 T G 2: 28,623,868 (GRCm39) I151S possibly damaging Het
Aldh1a1 T C 19: 20,606,413 (GRCm39) probably benign Het
Aldh1l1 A G 6: 90,546,875 (GRCm39) R393G possibly damaging Het
Ankhd1 T A 18: 36,767,353 (GRCm39) L1164Q probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atf5 A G 7: 44,462,821 (GRCm39) M101T possibly damaging Het
Det1 T C 7: 78,493,765 (GRCm39) T80A probably benign Het
Dpp9 C T 17: 56,501,404 (GRCm39) probably benign Het
Fam13c A G 10: 70,370,591 (GRCm39) R244G probably damaging Het
Fat3 A T 9: 16,158,192 (GRCm39) N1139K probably damaging Het
Fbxo17 A G 7: 28,432,916 (GRCm39) T146A possibly damaging Het
Fli1 T C 9: 32,363,425 (GRCm39) probably benign Het
Glb1l2 T G 9: 26,705,397 (GRCm39) D151A probably damaging Het
Gli2 G A 1: 118,768,220 (GRCm39) T669I possibly damaging Het
Igsf3 C A 3: 101,342,751 (GRCm39) R463S probably damaging Het
Il1rl2 T C 1: 40,365,662 (GRCm39) V3A unknown Het
Irx3 G A 8: 92,526,708 (GRCm39) S332F probably benign Het
Katnb1 C T 8: 95,822,286 (GRCm39) T303M possibly damaging Het
Lrrc31 A T 3: 30,743,383 (GRCm39) L194Q probably damaging Het
Lrrc37a T G 11: 103,394,264 (GRCm39) E387A probably benign Het
Mapk14 T C 17: 28,910,763 (GRCm39) I17T probably benign Het
Mtif2 A G 11: 29,483,401 (GRCm39) probably benign Het
Myo16 A G 8: 10,619,918 (GRCm39) T1490A probably benign Het
Nfasc A G 1: 132,539,333 (GRCm39) V399A probably damaging Het
Nhsl3 A G 4: 129,117,477 (GRCm39) S396P probably damaging Het
Nobox T C 6: 43,284,169 (GRCm39) K1E probably null Het
Nr2c1 A T 10: 94,017,374 (GRCm39) M371L probably benign Het
Or10ak16 C T 4: 118,750,448 (GRCm39) T56I possibly damaging Het
Or51a10 G A 7: 103,698,979 (GRCm39) T194I probably benign Het
Pappa2 C A 1: 158,544,560 (GRCm39) C1756F probably damaging Het
Pdzd8 G A 19: 59,289,361 (GRCm39) R680C probably damaging Het
Rassf3 G A 10: 121,253,075 (GRCm39) T44M probably benign Het
Rmnd1 T C 10: 4,377,693 (GRCm39) probably null Het
Rnf126 C T 10: 79,598,477 (GRCm39) probably benign Het
Rnf144b T C 13: 47,397,966 (GRCm39) S299P probably benign Het
Ryr2 A G 13: 11,848,981 (GRCm39) probably benign Het
Scel T A 14: 103,840,690 (GRCm39) S511T probably benign Het
Slc16a10 G T 10: 39,916,627 (GRCm39) S138* probably null Het
Slc36a4 A T 9: 15,645,562 (GRCm39) I330F probably damaging Het
Slc5a8 A G 10: 88,722,420 (GRCm39) I84M probably benign Het
Spag9 T C 11: 93,982,579 (GRCm39) probably benign Het
Suco C T 1: 161,662,419 (GRCm39) V671I probably benign Het
Suox G A 10: 128,506,754 (GRCm39) P425S probably damaging Het
Tmem266 T A 9: 55,344,697 (GRCm39) V443E probably benign Het
Tmprss11f A T 5: 86,704,870 (GRCm39) I16N probably benign Het
Tnik T A 3: 28,625,029 (GRCm39) Y321* probably null Het
Tnrc6b T C 15: 80,797,524 (GRCm39) M1357T probably benign Het
Tpbg C A 9: 85,726,803 (GRCm39) Y257* probably null Het
Usp37 A T 1: 74,529,266 (GRCm39) S138T probably benign Het
Veph1 T A 3: 66,162,449 (GRCm39) R70* probably null Het
Vmn2r17 C T 5: 109,600,747 (GRCm39) P682S probably damaging Het
Vmn2r79 A C 7: 86,651,611 (GRCm39) N337H probably benign Het
Vstm2b A G 7: 40,551,876 (GRCm39) D68G probably damaging Het
Vwa7 G T 17: 35,236,933 (GRCm39) A167S possibly damaging Het
Zfp647 A T 15: 76,795,586 (GRCm39) I358N probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign 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
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
R5511:Oplah UTSW 15 76,189,944 (GRCm39) missense possibly damaging 0.74
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'- GTTCCAAAAGCACGAAGCATGTCTC -3'
(R):5'- AGTGCCCAGTGGTTATGAAGCAG -3'

Sequencing Primer
(F):5'- AAGCATGTCTCGCACTGC -3'
(R):5'- TGGTTATGAAGCAGACAGGCAC -3'
Posted On 2013-05-09