Incidental Mutation 'R1703:Oplah'
| ID |
189923 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Oplah
|
| Ensembl Gene |
ENSMUSG00000022562 |
| Gene Name |
5-oxoprolinase (ATP-hydrolysing) |
| Synonyms |
|
| MMRRC Submission |
039736-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1703 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76180801-76212215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76180867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1279
(Y1279H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023222]
[ENSMUST00000074173]
[ENSMUST00000163991]
[ENSMUST00000164189]
[ENSMUST00000171340]
[ENSMUST00000171192]
[ENSMUST00000230221]
|
| AlphaFold |
Q8K010 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023222
AA Change: Y1279H
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: Y1279H
| 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 |
noncoding transcript
Transcript: ENSMUST00000096370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163127
|
| 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 benign
Transcript: ENSMUST00000171340
AA Change: Y1279H
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: Y1279H
| 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: ENSMUST00000170063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170261
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230221
|
| Meta Mutation Damage Score |
0.0734 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
99% (86/87) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
T |
7: 130,945,431 (GRCm39) |
Y401* |
probably null |
Het |
| 4932415M13Rik |
C |
A |
17: 54,032,065 (GRCm39) |
|
noncoding transcript |
Het |
| Abtb3 |
A |
G |
10: 85,223,248 (GRCm39) |
D19G |
unknown |
Het |
| Acoxl |
T |
A |
2: 127,820,692 (GRCm39) |
S81R |
probably damaging |
Het |
| Adamtsl4 |
A |
G |
3: 95,584,924 (GRCm39) |
C915R |
probably damaging |
Het |
| Adgra3 |
C |
T |
5: 50,164,117 (GRCm39) |
M287I |
probably benign |
Het |
| Afg1l |
T |
G |
10: 42,276,395 (GRCm39) |
D250A |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,700,871 (GRCm39) |
T530A |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,723,415 (GRCm39) |
V971M |
probably damaging |
Het |
| App |
A |
G |
16: 84,762,656 (GRCm39) |
S656P |
probably damaging |
Het |
| Arid5a |
T |
A |
1: 36,358,656 (GRCm39) |
|
probably null |
Het |
| Asic5 |
T |
A |
3: 81,907,029 (GRCm39) |
V60D |
possibly damaging |
Het |
| Atm |
G |
T |
9: 53,412,000 (GRCm39) |
H1019N |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,807,466 (GRCm39) |
K277R |
probably benign |
Het |
| Chrna7 |
C |
T |
7: 62,749,255 (GRCm39) |
R409H |
probably damaging |
Het |
| Chrng |
A |
T |
1: 87,138,628 (GRCm39) |
N419I |
possibly damaging |
Het |
| Ciao1 |
T |
C |
2: 127,087,739 (GRCm39) |
S199G |
probably benign |
Het |
| Clstn2 |
A |
T |
9: 97,340,290 (GRCm39) |
M694K |
possibly damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,391,181 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
T |
A |
19: 39,864,810 (GRCm39) |
I223F |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 139,097,492 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
A |
T |
11: 117,917,575 (GRCm39) |
L4162Q |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,213,463 (GRCm39) |
M506V |
probably benign |
Het |
| Ecsit |
A |
G |
9: 21,986,107 (GRCm39) |
V173A |
probably damaging |
Het |
| Fam13b |
T |
C |
18: 34,584,492 (GRCm39) |
|
probably null |
Het |
| Fgl2 |
T |
A |
5: 21,577,730 (GRCm39) |
W6R |
possibly damaging |
Het |
| Galnt9 |
G |
A |
5: 110,767,038 (GRCm39) |
R503H |
probably damaging |
Het |
| Gramd1a |
C |
T |
7: 30,838,959 (GRCm39) |
V247M |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,754,379 (GRCm39) |
I632N |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,286,462 (GRCm39) |
V3627A |
probably damaging |
Het |
| Ipo8 |
T |
C |
6: 148,691,390 (GRCm39) |
Y660C |
probably benign |
Het |
| Isg15 |
T |
C |
4: 156,284,265 (GRCm39) |
R88G |
possibly damaging |
Het |
| Itgb5 |
T |
A |
16: 33,730,870 (GRCm39) |
D388E |
probably benign |
Het |
| Jhy |
T |
C |
9: 40,856,133 (GRCm39) |
Y118C |
probably damaging |
Het |
| Kalrn |
G |
A |
16: 34,025,696 (GRCm39) |
T931M |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,833,250 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 27,142,667 (GRCm39) |
Y604N |
probably damaging |
Het |
| Lrp3 |
T |
G |
7: 34,912,586 (GRCm39) |
S34R |
possibly damaging |
Het |
| Lrrc37 |
C |
T |
11: 103,431,700 (GRCm39) |
V1372I |
probably benign |
Het |
| Lyn |
T |
C |
4: 3,738,867 (GRCm39) |
|
probably null |
Het |
| Mroh8 |
C |
T |
2: 157,113,896 (GRCm39) |
V132I |
probably benign |
Het |
| Mthfd1l |
T |
C |
10: 4,098,093 (GRCm39) |
F977L |
probably damaging |
Het |
| Nol8 |
C |
T |
13: 49,820,933 (GRCm39) |
T912M |
possibly damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,515,845 (GRCm39) |
N169K |
probably damaging |
Het |
| Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
| Or4c101 |
T |
A |
2: 88,390,599 (GRCm39) |
M262K |
possibly damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,729,458 (GRCm39) |
N129S |
probably benign |
Het |
| Pcyt2 |
G |
T |
11: 120,503,894 (GRCm39) |
P185T |
probably benign |
Het |
| Pdlim2 |
A |
G |
14: 70,411,784 (GRCm39) |
|
probably null |
Het |
| Pgs1 |
T |
C |
11: 117,905,554 (GRCm39) |
|
probably benign |
Het |
| Qprt |
A |
G |
7: 126,707,343 (GRCm39) |
V251A |
probably benign |
Het |
| Rasal2 |
A |
C |
1: 156,985,170 (GRCm39) |
L834R |
probably damaging |
Het |
| Reg1 |
T |
C |
6: 78,405,432 (GRCm39) |
C161R |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,415,392 (GRCm39) |
I1907F |
probably damaging |
Het |
| S1pr5 |
T |
C |
9: 21,155,346 (GRCm39) |
D360G |
possibly damaging |
Het |
| Sart3 |
C |
A |
5: 113,890,280 (GRCm39) |
V482F |
probably benign |
Het |
| Scarf2 |
A |
G |
16: 17,620,713 (GRCm39) |
E127G |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,825,305 (GRCm39) |
S245P |
probably damaging |
Het |
| Serpinc1 |
G |
T |
1: 160,821,087 (GRCm39) |
R57L |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Sgca |
A |
T |
11: 94,860,217 (GRCm39) |
L307M |
probably damaging |
Het |
| Slc7a9 |
C |
A |
7: 35,154,000 (GRCm39) |
Q208K |
probably benign |
Het |
| Slfn10-ps |
C |
T |
11: 82,920,869 (GRCm39) |
|
noncoding transcript |
Het |
| Spam1 |
A |
T |
6: 24,796,256 (GRCm39) |
D69V |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,365 (GRCm39) |
E1490G |
probably benign |
Het |
| Tbc1d22a |
G |
T |
15: 86,123,416 (GRCm39) |
D150Y |
probably benign |
Het |
| Tex10 |
C |
T |
4: 48,456,800 (GRCm39) |
R637Q |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,144,443 (GRCm39) |
D55G |
possibly damaging |
Het |
| Tram2 |
G |
T |
1: 21,074,458 (GRCm39) |
N241K |
probably damaging |
Het |
| Ttc23l |
T |
C |
15: 10,523,744 (GRCm39) |
Y325C |
probably damaging |
Het |
| Ubac2 |
T |
A |
14: 122,142,582 (GRCm39) |
S27T |
probably benign |
Het |
| Utrn |
G |
A |
10: 12,603,473 (GRCm39) |
|
probably benign |
Het |
| Vnn3 |
A |
T |
10: 23,741,828 (GRCm39) |
M378L |
probably benign |
Het |
| Vps18 |
T |
A |
2: 119,119,538 (GRCm39) |
D6E |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,989,134 (GRCm39) |
I253F |
probably benign |
Het |
| Yeats4 |
A |
T |
10: 117,051,628 (GRCm39) |
C210S |
probably benign |
Het |
| Zdhhc20 |
A |
G |
14: 58,076,545 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TGGACTACATCACCTACCGCAGAG -3'
(R):5'- TCTTAACTGGGACAGGGACGCAAC -3'
Sequencing Primer
(F):5'- AGTAAGTGCCTCACCTCAGG -3'
(R):5'- GCAACCTGTGTTAAAACTTGCTC -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation