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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |