Incidental Mutation 'R5549:Oplah'
| ID |
435062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
043106-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5549 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 76182466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 963
(A963V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171340]
[ENSMUST00000171192]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023222
AA Change: A963V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: A963V
| 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: 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| 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 |
noncoding transcript
Transcript: ENSMUST00000167433
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171340
AA Change: A963V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: A963V
| 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 |
noncoding transcript
Transcript: ENSMUST00000170261
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169664
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230735
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171192
|
| SMART Domains |
Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,384,993 (GRCm39) |
E324G |
possibly damaging |
Het |
| Acad8 |
C |
T |
9: 26,896,847 (GRCm39) |
R204Q |
probably damaging |
Het |
| Adgrg7 |
T |
G |
16: 56,570,790 (GRCm39) |
T413P |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,617,117 (GRCm39) |
I2224T |
probably benign |
Het |
| Arhgap23 |
A |
G |
11: 97,357,394 (GRCm39) |
D964G |
probably damaging |
Het |
| Atf6b |
A |
G |
17: 34,870,657 (GRCm39) |
D367G |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,226,104 (GRCm39) |
L131P |
probably damaging |
Het |
| Bmp8b |
T |
C |
4: 123,018,278 (GRCm39) |
V383A |
probably damaging |
Het |
| C5ar2 |
A |
G |
7: 15,970,868 (GRCm39) |
V353A |
probably damaging |
Het |
| Ccr5 |
C |
A |
9: 123,925,408 (GRCm39) |
A337E |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,227,953 (GRCm39) |
V382I |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,440,498 (GRCm39) |
T96A |
probably benign |
Het |
| Diaph3 |
T |
G |
14: 87,216,106 (GRCm39) |
I465L |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,209,018 (GRCm39) |
*134W |
probably null |
Het |
| Fgf22 |
G |
T |
10: 79,592,696 (GRCm39) |
M130I |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,453,690 (GRCm39) |
V1792M |
probably damaging |
Het |
| Grik3 |
G |
A |
4: 125,579,838 (GRCm39) |
A528T |
possibly damaging |
Het |
| Hecw2 |
G |
A |
1: 53,964,850 (GRCm39) |
R659W |
possibly damaging |
Het |
| Hmbs |
C |
T |
9: 44,250,774 (GRCm39) |
|
probably null |
Het |
| Ift122 |
T |
G |
6: 115,868,983 (GRCm39) |
L490R |
probably damaging |
Het |
| Igkv4-63 |
T |
C |
6: 69,355,116 (GRCm39) |
H55R |
probably damaging |
Het |
| Itga4 |
A |
T |
2: 79,086,611 (GRCm39) |
N96I |
probably damaging |
Het |
| Kcna7 |
A |
T |
7: 45,056,063 (GRCm39) |
H93L |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,271,562 (GRCm39) |
I815V |
probably benign |
Het |
| Lcmt1 |
G |
A |
7: 123,027,330 (GRCm39) |
E298K |
probably damaging |
Het |
| Ly6g6f |
A |
G |
17: 35,302,333 (GRCm39) |
V68A |
possibly damaging |
Het |
| Map3k8 |
C |
T |
18: 4,340,762 (GRCm39) |
C184Y |
probably damaging |
Het |
| Mcemp1 |
A |
G |
8: 3,718,340 (GRCm39) |
T183A |
possibly damaging |
Het |
| Mobp |
T |
G |
9: 119,996,876 (GRCm39) |
S2R |
probably damaging |
Het |
| Mprip |
A |
G |
11: 59,651,644 (GRCm39) |
S1783G |
probably benign |
Het |
| Mterf3 |
C |
A |
13: 67,076,321 (GRCm39) |
A129S |
probably benign |
Het |
| Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
| Nr2c1 |
A |
G |
10: 94,003,558 (GRCm39) |
T239A |
probably benign |
Het |
| Odr4 |
A |
G |
1: 150,247,909 (GRCm39) |
S325P |
possibly damaging |
Het |
| Or13a26 |
A |
G |
7: 140,284,712 (GRCm39) |
|
probably null |
Het |
| Parp14 |
C |
T |
16: 35,661,505 (GRCm39) |
S1481N |
probably benign |
Het |
| Prxl2a |
T |
C |
14: 40,726,013 (GRCm39) |
K44E |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,816,391 (GRCm39) |
T1221M |
probably damaging |
Het |
| Rpe |
G |
A |
1: 66,755,163 (GRCm39) |
D182N |
probably damaging |
Het |
| Slc24a3 |
C |
A |
2: 145,448,784 (GRCm39) |
P443T |
probably damaging |
Het |
| Slc25a47 |
T |
C |
12: 108,822,143 (GRCm39) |
*311Q |
probably null |
Het |
| Sox2 |
C |
G |
3: 34,705,142 (GRCm39) |
A193G |
probably benign |
Het |
| Svep1 |
T |
C |
4: 58,057,954 (GRCm39) |
S3284G |
probably benign |
Het |
| Zfp369 |
A |
T |
13: 65,445,194 (GRCm39) |
H779L |
probably damaging |
Het |
| Zfp513 |
A |
T |
5: 31,357,947 (GRCm39) |
L144Q |
possibly damaging |
Het |
| Zfp526 |
T |
C |
7: 24,925,109 (GRCm39) |
F456S |
possibly damaging |
Het |
| Zfp791 |
C |
T |
8: 85,836,835 (GRCm39) |
G343D |
probably damaging |
Het |
| Zfp941 |
A |
C |
7: 140,388,021 (GRCm39) |
I664S |
possibly damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,233 (GRCm39) |
V189A |
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 |
|
|
R5511:Oplah
|
UTSW |
15 |
76,189,944 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
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'- ATCAGCAACAGAATGGGCCTC -3'
(R):5'- AGAAAGGCATCCAGCTGGTG -3'
Sequencing Primer
(F):5'- TCACCCCAGAGGCCAGTG -3'
(R):5'- AGCTGGTGGGAGAGCTGATC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation