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)
|
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
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 |
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
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 |
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
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 |
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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |