Incidental Mutation 'R7105:Oplah'
| ID |
551138 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
045197-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R7105 (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 76181887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1079
(N1079D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171192]
[ENSMUST00000171340]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023222
AA Change: N1079D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: N1079D
| 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: 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 damaging
Transcript: ENSMUST00000171340
AA Change: N1079D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: N1079D
| 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 |
|
| Meta Mutation Damage Score |
0.6291 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,347,842 (GRCm39) |
I3565N |
probably damaging |
Het |
| Adam8 |
T |
C |
7: 139,569,968 (GRCm39) |
E99G |
probably benign |
Het |
| Adnp2 |
A |
C |
18: 80,171,366 (GRCm39) |
H1014Q |
possibly damaging |
Het |
| Agbl4 |
T |
A |
4: 111,423,920 (GRCm39) |
N315K |
probably benign |
Het |
| Ankrd33b |
G |
T |
15: 31,305,214 (GRCm39) |
N183K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,913 (GRCm39) |
S113P |
possibly damaging |
Het |
| Bdp1 |
G |
A |
13: 100,206,689 (GRCm39) |
P618S |
probably damaging |
Het |
| Bhlhe40 |
C |
T |
6: 108,641,997 (GRCm39) |
P314S |
possibly damaging |
Het |
| Birc2 |
A |
C |
9: 7,819,442 (GRCm39) |
I490S |
probably damaging |
Het |
| Blm |
T |
C |
7: 80,149,516 (GRCm39) |
I698V |
probably benign |
Het |
| C4b |
G |
A |
17: 34,949,885 (GRCm39) |
T1433M |
possibly damaging |
Het |
| Car12 |
A |
G |
9: 66,659,688 (GRCm39) |
T238A |
probably damaging |
Het |
| Cend1 |
G |
A |
7: 141,007,565 (GRCm39) |
P85L |
probably benign |
Het |
| Cftr |
A |
T |
6: 18,318,971 (GRCm39) |
D1337V |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,309,491 (GRCm39) |
M248K |
probably damaging |
Het |
| Chtf8 |
A |
G |
8: 107,611,883 (GRCm39) |
F352S |
probably damaging |
Het |
| Cimip4 |
T |
A |
15: 78,270,318 (GRCm39) |
D150V |
possibly damaging |
Het |
| Csf2ra |
T |
C |
19: 61,213,458 (GRCm39) |
D384G |
possibly damaging |
Het |
| Ctnnbip1 |
T |
C |
4: 149,630,937 (GRCm39) |
S59P |
probably benign |
Het |
| Cyth3 |
A |
G |
5: 143,693,027 (GRCm39) |
N312D |
probably benign |
Het |
| Dtnb |
T |
C |
12: 3,698,391 (GRCm39) |
|
probably null |
Het |
| Duox2 |
A |
G |
2: 122,120,033 (GRCm39) |
S826P |
possibly damaging |
Het |
| Enthd1 |
C |
T |
15: 80,393,410 (GRCm39) |
A273T |
probably benign |
Het |
| Gm3138 |
T |
C |
14: 15,632,304 (GRCm39) |
V159A |
possibly damaging |
Het |
| Hhip |
T |
C |
8: 80,701,638 (GRCm39) |
D632G |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,911,956 (GRCm39) |
C114S |
probably benign |
Het |
| Islr2 |
T |
C |
9: 58,105,097 (GRCm39) |
D765G |
probably damaging |
Het |
| Klf14 |
TCCCC |
TCCC |
6: 30,935,476 (GRCm39) |
|
probably null |
Het |
| Mapk12 |
G |
A |
15: 89,015,361 (GRCm39) |
P362L |
probably benign |
Het |
| Msi1 |
T |
G |
5: 115,571,929 (GRCm39) |
F96V |
probably damaging |
Het |
| Mthfd1l |
T |
C |
10: 4,053,261 (GRCm39) |
V870A |
probably benign |
Het |
| Nfat5 |
T |
C |
8: 108,095,823 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Or2ah1 |
G |
T |
2: 85,654,224 (GRCm39) |
R303M |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 12,900,020 (GRCm39) |
I645F |
probably benign |
Het |
| Pank4 |
T |
C |
4: 155,064,624 (GRCm39) |
S728P |
probably benign |
Het |
| Parp2 |
TTGCCATAAGTGCTAAATGAAGCC |
T |
14: 51,047,521 (GRCm39) |
|
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,208,857 (GRCm39) |
I2503T |
unknown |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,465,647 (GRCm39) |
F204Y |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,537,341 (GRCm39) |
N330S |
probably benign |
Het |
| Pramel32 |
G |
A |
4: 88,548,339 (GRCm39) |
S22F |
probably damaging |
Het |
| Prep |
T |
A |
10: 45,002,159 (GRCm39) |
I438N |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,874,700 (GRCm39) |
H47R |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,278 (GRCm39) |
D733E |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,539,049 (GRCm39) |
I31F |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,377,328 (GRCm39) |
Y381C |
probably damaging |
Het |
| Slc47a2 |
A |
G |
11: 61,233,269 (GRCm39) |
V87A |
probably benign |
Het |
| Slc5a9 |
T |
C |
4: 111,755,892 (GRCm39) |
N2S |
probably benign |
Het |
| Spata13 |
A |
G |
14: 60,991,319 (GRCm39) |
D1024G |
probably damaging |
Het |
| Stat1 |
T |
G |
1: 52,190,408 (GRCm39) |
N554K |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,572,635 (GRCm39) |
D110G |
possibly damaging |
Het |
| Sult1c2 |
T |
A |
17: 54,280,917 (GRCm39) |
|
probably null |
Het |
| Taf5l |
A |
G |
8: 124,729,951 (GRCm39) |
I246T |
probably damaging |
Het |
| Tcof1 |
A |
T |
18: 60,976,368 (GRCm39) |
D80E |
probably damaging |
Het |
| Tmem233 |
T |
C |
5: 116,221,057 (GRCm39) |
Y63C |
probably damaging |
Het |
| Tshz3 |
A |
G |
7: 36,469,181 (GRCm39) |
E390G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,560,610 (GRCm39) |
T29264A |
possibly damaging |
Het |
| Ubr5 |
T |
C |
15: 38,009,019 (GRCm39) |
T1065A |
|
Het |
| Vcp |
A |
G |
4: 42,985,991 (GRCm39) |
V341A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,534,748 (GRCm39) |
L135* |
probably null |
Het |
| Vmn1r57 |
T |
A |
7: 5,223,499 (GRCm39) |
I8N |
probably damaging |
Het |
| Ythdc2 |
C |
T |
18: 44,967,630 (GRCm39) |
P209S |
probably damaging |
Het |
| Zfp213 |
A |
T |
17: 23,777,178 (GRCm39) |
V288D |
probably benign |
Het |
| Zfp362 |
T |
C |
4: 128,668,319 (GRCm39) |
I418V |
probably damaging |
Het |
| Zfp707 |
C |
A |
15: 75,846,595 (GRCm39) |
T215K |
|
Het |
| Zfp957 |
G |
C |
14: 79,450,402 (GRCm39) |
R466G |
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 |
|
|
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 |
|
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'- TGTCTCATAGTAGCCCATACGG -3'
(R):5'- AAGGCAGCCCAATATGAACG -3'
Sequencing Primer
(F):5'- TGTTCATGCAGCCCTGATAGAAG -3'
(R):5'- CAGCCCAATATGAACGGAGCTTAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation