Incidental Mutation 'R8913:Oplah'
| ID |
678785 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
068702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R8913 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76181680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1114
(M1114V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000074173]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171192]
[ENSMUST00000171340]
[ENSMUST00000230221]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: M1114V
| 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: ENSMUST00000074173
|
| SMART Domains |
Protein: ENSMUSP00000073805
Gene: ENSMUSG00000049653
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Speriolin_N
|
1 |
176 |
5.1e-67 |
PFAM |
|
Pfam:Speriolin_N
|
172 |
262 |
1.2e-25 |
PFAM |
|
Pfam:Speriolin_C
|
334 |
480 |
1.5e-66 |
PFAM |
|
| 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 |
probably benign
Transcript: ENSMUST00000171192
|
| SMART Domains |
Protein: ENSMUSP00000133693
Gene: ENSMUSG00000071724
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
46 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171340
AA Change: M1114V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: M1114V
| 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: ENSMUST00000230221
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
96% (65/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,303,972 (GRCm39) |
Y2102H |
probably damaging |
Het |
| Adam30 |
A |
T |
3: 98,068,580 (GRCm39) |
I10F |
possibly damaging |
Het |
| Afap1l1 |
C |
T |
18: 61,889,910 (GRCm39) |
|
probably null |
Het |
| Asz1 |
T |
C |
6: 18,054,570 (GRCm39) |
D411G |
probably benign |
Het |
| Atp8b2 |
A |
G |
3: 89,852,830 (GRCm39) |
L144P |
|
Het |
| Atxn7l3 |
G |
T |
11: 102,185,787 (GRCm39) |
N13K |
probably damaging |
Het |
| Cap1 |
C |
A |
4: 122,761,445 (GRCm39) |
|
probably null |
Het |
| Cd244a |
T |
A |
1: 171,401,774 (GRCm39) |
Y167N |
probably damaging |
Het |
| Cd244a |
A |
T |
1: 171,401,775 (GRCm39) |
Y167F |
probably damaging |
Het |
| Cd302 |
A |
G |
2: 60,088,241 (GRCm39) |
F92S |
probably damaging |
Het |
| Cep128 |
C |
T |
12: 91,331,221 (GRCm39) |
|
probably null |
Het |
| Csmd2 |
C |
A |
4: 128,417,351 (GRCm39) |
P2770T |
|
Het |
| Cyp4f40 |
G |
T |
17: 32,886,810 (GRCm39) |
D122Y |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,553,063 (GRCm39) |
E2583G |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,624,602 (GRCm39) |
V3714A |
probably benign |
Het |
| Fam114a1 |
G |
T |
5: 65,185,821 (GRCm39) |
A381S |
possibly damaging |
Het |
| Fzd8 |
A |
G |
18: 9,213,869 (GRCm39) |
Y317C |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,891,579 (GRCm39) |
K2312R |
possibly damaging |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Klhl23 |
G |
A |
2: 69,664,234 (GRCm39) |
E528K |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,982,039 (GRCm39) |
V1756A |
probably benign |
Het |
| Lcn2 |
C |
A |
2: 32,277,158 (GRCm39) |
V53F |
possibly damaging |
Het |
| Lrp4 |
T |
C |
2: 91,331,785 (GRCm39) |
S1633P |
probably benign |
Het |
| Map3k19 |
A |
G |
1: 127,750,363 (GRCm39) |
V996A |
probably benign |
Het |
| Mettl9 |
T |
G |
7: 120,675,539 (GRCm39) |
F313C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,215,924 (GRCm39) |
H373Q |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,947,010 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
T |
C |
10: 127,541,710 (GRCm39) |
V83A |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,665 (GRCm39) |
T45A |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,401,564 (GRCm39) |
V40A |
possibly damaging |
Het |
| Nherf2 |
G |
A |
17: 24,863,839 (GRCm39) |
S12L |
probably benign |
Het |
| Nmt1 |
G |
T |
11: 102,948,271 (GRCm39) |
R265L |
probably damaging |
Het |
| Nwd2 |
C |
A |
5: 63,963,440 (GRCm39) |
A1008D |
possibly damaging |
Het |
| Obsl1 |
C |
T |
1: 75,467,892 (GRCm39) |
A1334T |
probably benign |
Het |
| Or10a3n |
T |
C |
7: 108,492,736 (GRCm39) |
R298G |
probably damaging |
Het |
| Or10a49 |
A |
T |
7: 108,467,809 (GRCm39) |
V184E |
probably damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,274 (GRCm39) |
F73S |
probably damaging |
Het |
| Or4c29 |
A |
G |
2: 88,739,991 (GRCm39) |
F249L |
probably benign |
Het |
| Pdlim5 |
A |
T |
3: 141,950,666 (GRCm39) |
F582L |
probably damaging |
Het |
| Plcb2 |
A |
G |
2: 118,544,365 (GRCm39) |
F671L |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,947 (GRCm39) |
V725E |
probably damaging |
Het |
| Psmd11 |
C |
T |
11: 80,362,338 (GRCm39) |
T396I |
probably damaging |
Het |
| Ptn |
C |
T |
6: 36,718,276 (GRCm39) |
D130N |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,159,034 (GRCm39) |
D473G |
probably benign |
Het |
| Robo1 |
A |
C |
16: 72,701,622 (GRCm39) |
I163L |
probably damaging |
Het |
| Ror1 |
A |
C |
4: 100,265,027 (GRCm39) |
D167A |
possibly damaging |
Het |
| Rps6ka5 |
T |
C |
12: 100,520,595 (GRCm39) |
D709G |
|
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Runx2 |
T |
C |
17: 44,919,169 (GRCm39) |
T472A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,623,094 (GRCm39) |
T582A |
probably damaging |
Het |
| Serpina3m |
C |
T |
12: 104,355,477 (GRCm39) |
A48V |
probably benign |
Het |
| Smim8 |
T |
A |
4: 34,769,056 (GRCm39) |
D76V |
possibly damaging |
Het |
| Sqor |
A |
G |
2: 122,641,806 (GRCm39) |
K260R |
probably benign |
Het |
| Syde2 |
A |
T |
3: 145,708,148 (GRCm39) |
I963F |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,188,145 (GRCm39) |
N864Y |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,351,952 (GRCm39) |
|
probably benign |
Het |
| Tm7sf3 |
A |
T |
6: 146,527,621 (GRCm39) |
Y68* |
probably null |
Het |
| Tmtc2 |
T |
A |
10: 105,158,887 (GRCm39) |
I569F |
probably damaging |
Het |
| Upf3a |
G |
A |
8: 13,845,728 (GRCm39) |
V276M |
possibly damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,375 (GRCm39) |
V14M |
possibly damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,249,968 (GRCm39) |
S768P |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,785,778 (GRCm39) |
T194S |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,309,543 (GRCm39) |
M852T |
probably benign |
Het |
| Zfp207 |
T |
A |
11: 80,276,744 (GRCm39) |
D19E |
probably damaging |
Het |
| Zfp318 |
G |
A |
17: 46,722,699 (GRCm39) |
M1567I |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,653 (GRCm39) |
E820V |
probably damaging |
Het |
| Zfp512b |
A |
T |
2: 181,227,282 (GRCm39) |
C46S |
|
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 |
|
R8202:Oplah
|
UTSW |
15 |
76,186,669 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- GGCTCATCTCCCAGATCAAC -3'
(R):5'- TATTGGATCCATCCCCAGAGG -3'
Sequencing Primer
(F):5'- TCAACTGCCCAGCACTGAGTG -3'
(R):5'- ACATCTCAGCGAGTCGTGGATG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation