Incidental Mutation 'R5631:Oplah'
| ID |
439878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
043282-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R5631 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76189441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 228
(I228V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000164189]
[ENSMUST00000165279]
[ENSMUST00000171340]
[ENSMUST00000210024]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023222
AA Change: I228V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: I228V
| 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: I228V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: I228V
| 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: I228V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: I228V
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230735
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
A |
11: 72,067,590 (GRCm39) |
V567L |
possibly damaging |
Het |
| Abraxas1 |
T |
G |
5: 100,965,840 (GRCm39) |
Y68S |
probably damaging |
Het |
| Adamtsl1 |
C |
T |
4: 86,195,160 (GRCm39) |
Q543* |
probably null |
Het |
| Anapc1 |
T |
C |
2: 128,499,137 (GRCm39) |
Y845C |
possibly damaging |
Het |
| Ap4m1 |
A |
G |
5: 138,173,051 (GRCm39) |
*98W |
probably null |
Het |
| Clock |
G |
A |
5: 76,378,185 (GRCm39) |
P572S |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,204,577 (GRCm39) |
T275S |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,832,898 (GRCm39) |
S1038G |
probably benign |
Het |
| Fancm |
T |
C |
12: 65,160,617 (GRCm39) |
V1397A |
probably damaging |
Het |
| Fn1 |
T |
C |
1: 71,629,355 (GRCm39) |
T2203A |
probably damaging |
Het |
| Gm57858 |
G |
C |
3: 36,101,026 (GRCm39) |
Q49E |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,310 (GRCm39) |
I209F |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 107,052,629 (GRCm39) |
S285P |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,244,808 (GRCm39) |
C126S |
probably damaging |
Het |
| Ipo4 |
A |
G |
14: 55,869,526 (GRCm39) |
V378A |
probably damaging |
Het |
| Ipo4 |
C |
T |
14: 55,870,838 (GRCm39) |
V265I |
probably benign |
Het |
| Kcnv1 |
T |
A |
15: 44,972,753 (GRCm39) |
T377S |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,731,985 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
T |
C |
2: 101,900,301 (GRCm39) |
D67G |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,646,456 (GRCm39) |
M535L |
probably benign |
Het |
| Mfhas1 |
G |
A |
8: 36,055,573 (GRCm39) |
R16Q |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,333,383 (GRCm39) |
K1355* |
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,862,283 (GRCm39) |
I282V |
probably benign |
Het |
| Mvb12b |
G |
T |
2: 33,717,715 (GRCm39) |
P142Q |
probably damaging |
Het |
| Naip6 |
T |
C |
13: 100,436,646 (GRCm39) |
I626V |
probably benign |
Het |
| Ncoa5 |
T |
C |
2: 164,855,041 (GRCm39) |
D27G |
possibly damaging |
Het |
| Nrap |
T |
G |
19: 56,342,553 (GRCm39) |
E780A |
probably benign |
Het |
| Or5w1b |
A |
T |
2: 87,475,952 (GRCm39) |
S172T |
probably benign |
Het |
| Pkdrej |
T |
C |
15: 85,704,638 (GRCm39) |
M433V |
probably benign |
Het |
| Polr3h |
T |
A |
15: 81,810,113 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
C |
6: 146,898,358 (GRCm39) |
Y105H |
probably damaging |
Het |
| Rplp2 |
A |
C |
7: 141,031,172 (GRCm39) |
|
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,808,345 (GRCm39) |
|
probably benign |
Het |
| Rspry1 |
A |
T |
8: 95,355,706 (GRCm39) |
M1L |
possibly damaging |
Het |
| Runx1 |
C |
A |
16: 92,492,451 (GRCm39) |
R64L |
possibly damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc9a5 |
C |
T |
8: 106,076,141 (GRCm39) |
H45Y |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,937,645 (GRCm39) |
I890T |
probably benign |
Het |
| Smtnl1 |
T |
C |
2: 84,649,098 (GRCm39) |
E52G |
probably benign |
Het |
| Stag3 |
T |
A |
5: 138,294,139 (GRCm39) |
I319N |
probably damaging |
Het |
| Stt3b |
G |
A |
9: 115,083,913 (GRCm39) |
T421I |
probably benign |
Het |
| Thumpd1 |
A |
G |
7: 119,319,825 (GRCm39) |
L47P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,882 (GRCm38) |
Y850H |
probably damaging |
Het |
| Trim34a |
A |
T |
7: 103,897,946 (GRCm39) |
E158V |
probably damaging |
Het |
| Trp53i13 |
C |
A |
11: 77,400,419 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
T |
C |
15: 9,361,971 (GRCm39) |
V249A |
probably damaging |
Het |
| Vmn1r128 |
G |
A |
7: 21,083,300 (GRCm39) |
M1I |
probably null |
Het |
| Yars1 |
T |
G |
4: 129,103,542 (GRCm39) |
L297R |
probably damaging |
Het |
| Yju2b |
G |
T |
8: 84,990,510 (GRCm39) |
Q41K |
probably damaging |
Het |
| Zkscan3 |
A |
G |
13: 21,578,703 (GRCm39) |
L176P |
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 |
|
R5549:Oplah
|
UTSW |
15 |
76,182,466 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5594:Oplah
|
UTSW |
15 |
76,180,837 (GRCm39) |
makesense |
probably null |
|
|
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'- CATTCTATGAATGGGGAGAGCG -3'
(R):5'- CTCATGCATTCGTACACGTG -3'
Sequencing Primer
(F):5'- CTATGAATGGGGAGAGCGGACAG -3'
(R):5'- TTTCCCGTGCGTGGAGAC -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation