Incidental Mutation 'R5259:Oplah'
| ID |
401325 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
042856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5259 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 76185410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171340]
[ENSMUST00000171340]
[ENSMUST00000210024]
[ENSMUST00000171192]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023222
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
| 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 null
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: ENSMUST00000169664
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171340
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
| 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 null
Transcript: ENSMUST00000171340
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
| 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 |
probably benign
Transcript: ENSMUST00000210024
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170063
|
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (68/68) |
| 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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
A |
C |
3: 40,871,325 (GRCm39) |
T50P |
probably damaging |
Het |
| Adam5 |
T |
A |
8: 25,300,850 (GRCm39) |
L226F |
possibly damaging |
Het |
| Adi1 |
T |
C |
12: 28,725,544 (GRCm39) |
|
probably benign |
Het |
| Apc |
T |
C |
18: 34,447,343 (GRCm39) |
V1379A |
probably benign |
Het |
| Atp13a4 |
G |
A |
16: 29,275,428 (GRCm39) |
T352M |
probably damaging |
Het |
| Baat |
T |
A |
4: 49,490,070 (GRCm39) |
N338I |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,554,327 (GRCm39) |
T234A |
probably benign |
Het |
| Catsperd |
A |
C |
17: 56,967,235 (GRCm39) |
T539P |
possibly damaging |
Het |
| Cd109 |
A |
T |
9: 78,617,434 (GRCm39) |
T1311S |
probably benign |
Het |
| Ceacam18 |
T |
C |
7: 43,286,536 (GRCm39) |
|
probably null |
Het |
| Cfap96 |
T |
C |
8: 46,415,373 (GRCm39) |
E211G |
probably benign |
Het |
| Cfhr4 |
C |
T |
1: 139,668,233 (GRCm39) |
C300Y |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,543,318 (GRCm39) |
S819T |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,431,614 (GRCm39) |
R1557S |
unknown |
Het |
| Ddx18 |
A |
G |
1: 121,495,518 (GRCm39) |
|
probably null |
Het |
| Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
| Fam13c |
C |
G |
10: 70,276,893 (GRCm39) |
A17G |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,685 (GRCm39) |
Y646C |
probably damaging |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,110 (GRCm39) |
S229P |
probably benign |
Het |
| Gbp8 |
A |
T |
5: 105,198,845 (GRCm39) |
H23Q |
probably benign |
Het |
| Gdf2 |
T |
C |
14: 33,666,788 (GRCm39) |
V170A |
probably benign |
Het |
| Gm15723 |
T |
C |
10: 114,652,722 (GRCm39) |
|
noncoding transcript |
Het |
| Gm815 |
G |
A |
19: 26,863,806 (GRCm39) |
V16I |
unknown |
Het |
| Ighv1-75 |
T |
A |
12: 115,797,797 (GRCm39) |
K42* |
probably null |
Het |
| Isx |
A |
G |
8: 75,619,473 (GRCm39) |
T222A |
probably benign |
Het |
| Itgax |
G |
A |
7: 127,747,450 (GRCm39) |
D1018N |
probably damaging |
Het |
| Kcnc4 |
A |
G |
3: 107,355,401 (GRCm39) |
F349S |
probably damaging |
Het |
| Lama3 |
A |
C |
18: 12,598,565 (GRCm39) |
S991R |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,208,220 (GRCm39) |
A398V |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,670,357 (GRCm39) |
N1466S |
probably benign |
Het |
| Metrn |
A |
T |
17: 26,015,514 (GRCm39) |
L67Q |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,451,132 (GRCm39) |
R937Q |
probably benign |
Het |
| Mta3 |
A |
G |
17: 84,112,003 (GRCm39) |
Y577C |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,753,063 (GRCm39) |
F308L |
possibly damaging |
Het |
| Nat8 |
A |
T |
6: 85,807,873 (GRCm39) |
S87T |
probably benign |
Het |
| Or2ak6 |
A |
G |
11: 58,592,778 (GRCm39) |
N84D |
probably benign |
Het |
| Or2ak6 |
A |
C |
11: 58,592,779 (GRCm39) |
N84T |
possibly damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,109 (GRCm39) |
|
probably null |
Het |
| Pcdh15 |
A |
T |
10: 74,232,204 (GRCm39) |
I668L |
possibly damaging |
Het |
| Pecr |
A |
G |
1: 72,316,444 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,493,956 (GRCm39) |
E220G |
possibly damaging |
Het |
| Pnma8b |
A |
G |
7: 16,679,199 (GRCm39) |
K61R |
unknown |
Het |
| Prl8a6 |
C |
T |
13: 27,620,179 (GRCm39) |
W81* |
probably null |
Het |
| Rab33b |
C |
T |
3: 51,392,033 (GRCm39) |
|
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,557,772 (GRCm39) |
|
probably null |
Het |
| Relch |
A |
G |
1: 105,649,101 (GRCm39) |
S747G |
probably benign |
Het |
| Reln |
C |
T |
5: 22,308,395 (GRCm39) |
V325M |
possibly damaging |
Het |
| Rheb |
A |
C |
5: 25,008,743 (GRCm39) |
D158E |
probably benign |
Het |
| Rhebl1 |
T |
A |
15: 98,778,464 (GRCm39) |
|
probably benign |
Het |
| Rmdn2 |
T |
A |
17: 79,975,446 (GRCm39) |
Y312N |
probably damaging |
Het |
| Scamp1 |
T |
G |
13: 94,368,594 (GRCm39) |
N58T |
probably benign |
Het |
| Semp2l1 |
A |
T |
1: 32,584,598 (GRCm39) |
C437* |
probably null |
Het |
| Slc35a1 |
C |
T |
4: 34,683,322 (GRCm39) |
V53M |
probably benign |
Het |
| Slc35f3 |
A |
T |
8: 127,115,872 (GRCm39) |
L266F |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Ticrr |
T |
A |
7: 79,344,471 (GRCm39) |
S1445R |
probably benign |
Het |
| Ttc23l |
T |
C |
15: 10,515,236 (GRCm39) |
N381D |
probably damaging |
Het |
| Usp17ld |
T |
A |
7: 102,899,781 (GRCm39) |
K384* |
probably null |
Het |
| Vmn1r20 |
T |
A |
6: 57,409,050 (GRCm39) |
Y125* |
probably null |
Het |
| Zfp738 |
G |
T |
13: 67,817,805 (GRCm39) |
Q729K |
probably benign |
Het |
| Zfp770 |
T |
A |
2: 114,027,674 (GRCm39) |
M132L |
probably benign |
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 |
|
|
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'- TGGCCAAAACACCTAAGGG -3'
(R):5'- TCAAGGAACGCCTCGACTTC -3'
Sequencing Primer
(F):5'- GCAGTGCCAGAAATCTCTTG -3'
(R):5'- GGAACGCCTCGACTTCTCCTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation