Incidental Mutation 'R8202:Oplah'
ID 635733
Institutional Source Beutler Lab
Gene Symbol Oplah
Ensembl Gene ENSMUSG00000022562
Gene Name 5-oxoprolinase (ATP-hydrolysing)
Synonyms
MMRRC Submission 067625-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.086) question?
Stock # R8202 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 76180801-76212215 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 76186669 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 670 (G670D)
Ref Sequence ENSEMBL: ENSMUSP00000023222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000164189] [ENSMUST00000165279] [ENSMUST00000171340] [ENSMUST00000210024]
AlphaFold Q8K010
Predicted Effect probably benign
Transcript: ENSMUST00000023222
AA Change: G670D

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: G670D

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 probably benign
Transcript: ENSMUST00000164189
AA Change: G670D

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: G670D

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 probably benign
Transcript: ENSMUST00000171340
AA Change: G670D

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: G670D

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 probably benign
Transcript: ENSMUST00000210024
Meta Mutation Damage Score 0.1432 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 35,817,057 (GRCm39) R36C probably benign Het
B020011L13Rik A T 1: 117,728,874 (GRCm39) H127L probably damaging Het
B4galt4 A G 16: 38,588,274 (GRCm39) Q306R probably benign Het
Bckdha G A 7: 25,329,738 (GRCm39) H431Y probably damaging Het
Cacna1e T A 1: 154,274,195 (GRCm39) M2256L probably benign Het
Ccar1 A T 10: 62,607,768 (GRCm39) F298L possibly damaging Het
Ceacam3 G A 7: 16,896,953 (GRCm39) A640T Het
Cers3 A G 7: 66,435,761 (GRCm39) D240G probably damaging Het
Ces1d T C 8: 93,919,495 (GRCm39) E99G probably benign Het
Dnah2 A G 11: 69,369,649 (GRCm39) V1609A probably benign Het
Fer1l6 T C 15: 58,502,486 (GRCm39) F1329S probably damaging Het
Fry A G 5: 150,355,202 (GRCm39) Q1825R probably damaging Het
Guf1 C A 5: 69,720,545 (GRCm39) A335E possibly damaging Het
Heatr6 C A 11: 83,650,234 (GRCm39) T230K possibly damaging Het
Klhl11 G A 11: 100,354,150 (GRCm39) S557L probably benign Het
Map10 A G 8: 126,397,647 (GRCm39) N347D possibly damaging Het
Myh7 T C 14: 55,227,497 (GRCm39) I313V probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Nmral1 G A 16: 4,532,448 (GRCm39) T131M probably damaging Het
Npr1 T A 3: 90,368,731 (GRCm39) Y443F probably benign Het
Ntn4 A G 10: 93,480,765 (GRCm39) N163S possibly damaging Het
Nufip1 A G 14: 76,348,604 (GRCm39) I78V probably benign Het
Or51a24 A G 7: 103,734,198 (GRCm39) S30P probably benign Het
Or5j3 A T 2: 86,128,968 (GRCm39) E269D probably benign Het
Or6c69b T C 10: 129,626,518 (GRCm39) *313W probably null Het
Pcnx1 T G 12: 81,941,821 (GRCm39) I73S probably benign Het
Pigp A T 16: 94,165,528 (GRCm39) N204K probably benign Het
Prelid2 T A 18: 42,065,802 (GRCm39) I78F possibly damaging Het
Ptprb A G 10: 116,189,750 (GRCm39) Y1516C probably damaging Het
Rab31 T C 17: 65,974,881 (GRCm39) E157G probably damaging Het
Rars2 T C 4: 34,656,180 (GRCm39) Y445H probably damaging Het
Rnf220 T A 4: 117,347,070 (GRCm39) H114L probably damaging Het
Ryr1 A G 7: 28,790,457 (GRCm39) W1450R probably benign Het
Slamf6 A G 1: 171,761,786 (GRCm39) Y69C probably benign Het
Smc3 T C 19: 53,617,123 (GRCm39) I512T possibly damaging Het
Sspo A G 6: 48,434,534 (GRCm39) T1009A probably damaging Het
St3gal3 T A 4: 117,964,868 (GRCm39) probably benign Het
Tbc1d23 A G 16: 57,011,917 (GRCm39) F338L probably damaging Het
Tgs1 G A 4: 3,586,097 (GRCm39) A325T probably benign Het
Tmem30a A T 9: 79,681,494 (GRCm39) I261K probably damaging Het
Trim3 A T 7: 105,260,632 (GRCm39) H662Q possibly damaging Het
Unc13c C T 9: 73,643,844 (GRCm39) V1207M probably damaging Het
Vmn1r91 A T 7: 19,835,749 (GRCm39) I223F probably damaging Het
Vmn2r33 A T 7: 7,557,153 (GRCm39) C516S possibly damaging Het
Vps13c T C 9: 67,851,328 (GRCm39) V2321A probably damaging Het
Zan G T 5: 137,387,589 (GRCm39) T4874K unknown Het
Zfp677 T C 17: 21,613,535 (GRCm39) L43S probably damaging Het
Zfp709 A G 8: 72,642,760 (GRCm39) probably null 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
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
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'- TGATAGAACCTCTGTAGCCCTAGG -3'
(R):5'- TAGTGGACTTCAGCTGGAGG -3'

Sequencing Primer
(F):5'- TAGGCCAGGGGATCTGCTG -3'
(R):5'- ACTTCAGCTGGAGGAGACC -3'
Posted On 2020-07-13