Mutagenetix > Incidental Mutation

Incidental Mutation 'R8054:Oplah'

619286

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

067491-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R8054 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76180801-76212215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76190457 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 102 (R102H)

Ref Sequence

ENSEMBL: ENSMUSP00000023222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000164189] [ENSMUST00000165279] [ENSMUST00000171340] [ENSMUST00000210024]

AlphaFold

Q8K010

Predicted Effect

probably benign
Transcript: ENSMUST00000023222
AA Change: R102H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: R102H

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: ENSMUST00000164189
AA Change: R102H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: R102H

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

probably benign
Transcript: ENSMUST00000171340
AA Change: R102H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: R102H

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
AA Change: R198H

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	A	G	5: 8,874,272 (GRCm39)	N399S	probably benign	Het
Akap9	T	C	5: 4,088,707 (GRCm39)		probably null	Het
Ankrd17	A	G	5: 90,438,914 (GRCm39)	I483T	probably benign	Het
Arl13b	T	C	16: 62,626,960 (GRCm39)	D247G	probably benign	Het
Brca2	A	G	5: 150,459,969 (GRCm39)	I415V	probably benign	Het
Brpf3	C	A	17: 29,055,571 (GRCm39)	S1173R	probably damaging	Het
Cby2	A	G	14: 75,821,339 (GRCm39)	Y129H	probably benign	Het
Ccar1	A	G	10: 62,583,215 (GRCm39)	L966P	unknown	Het
Cfap61	A	G	2: 145,815,438 (GRCm39)	N249S	probably damaging	Het
Clip4	T	A	17: 72,141,268 (GRCm39)	Y541N	possibly damaging	Het
Csn2	C	T	5: 87,845,886 (GRCm39)		probably null	Het
Cyp2c23	T	G	19: 43,995,555 (GRCm39)	E404A	probably damaging	Het
Cyp2e1	A	G	7: 140,350,871 (GRCm39)	E281G	possibly damaging	Het
Cyp2r1	T	A	7: 114,151,319 (GRCm39)		probably null	Het
D430041D05Rik	T	A	2: 103,985,390 (GRCm39)	I1226F	possibly damaging	Het
Dbx1	A	T	7: 49,282,498 (GRCm39)	W236R	probably damaging	Het
Dcp2	T	G	18: 44,538,774 (GRCm39)	N251K	probably benign	Het
Disp1	A	T	1: 182,869,812 (GRCm39)	Y869*	probably null	Het
Dnajc8	T	A	4: 132,272,068 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,621,226 (GRCm39)	N822D	probably benign	Het
Ehhadh	A	G	16: 21,592,243 (GRCm39)		probably null	Het
Eml3	A	T	19: 8,916,414 (GRCm39)	T670S	possibly damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fbn1	A	T	2: 125,187,938 (GRCm39)	D1530E	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Hsd3b3	A	T	3: 98,649,331 (GRCm39)	Y331N	probably damaging	Het
Ino80d	T	C	1: 63,097,837 (GRCm39)	R791G	possibly damaging	Het
Itprid1	A	T	6: 55,953,424 (GRCm39)	K913N	probably damaging	Het
Jade2	T	C	11: 51,709,441 (GRCm39)	R523G	probably benign	Het
Kmt2d	A	T	15: 98,741,806 (GRCm39)	D4451E	unknown	Het
Lax1	T	C	1: 133,611,345 (GRCm39)	T76A	probably benign	Het
Map4k1	A	G	7: 28,689,181 (GRCm39)		probably benign	Het
Mcu	G	A	10: 59,290,817 (GRCm39)	T121M	probably damaging	Het
Mepce	T	A	5: 137,783,004 (GRCm39)	K441*	probably null	Het
Mettl21e	C	A	1: 44,245,815 (GRCm39)	V144F	probably damaging	Het
Muc6	T	A	7: 141,231,748 (GRCm39)	S1049C	probably damaging	Het
Myh14	C	T	7: 44,274,551 (GRCm39)	V1246M	probably damaging	Het
Myo3a	A	T	2: 22,464,329 (GRCm39)	Q1128L	probably benign	Het
Nat8f2	T	C	6: 85,844,754 (GRCm39)	S203G	probably benign	Het
Npas2	A	G	1: 39,326,652 (GRCm39)	T46A	possibly damaging	Het
Nup133	T	C	8: 124,675,956 (GRCm39)		probably benign	Het
Or1x6	T	A	11: 50,939,090 (GRCm39)	I52N	probably benign	Het
Or2b6	A	T	13: 21,823,119 (GRCm39)	D191E	probably benign	Het
Or5g29	A	T	2: 85,421,184 (GRCm39)	Q100L	probably damaging	Het
Or6d13	A	G	6: 116,517,960 (GRCm39)	H182R	probably damaging	Het
Or8g20	C	A	9: 39,396,033 (GRCm39)	C172F	probably damaging	Het
Osgep	C	T	14: 51,162,128 (GRCm39)		probably benign	Het
Pam	A	T	1: 97,768,114 (GRCm39)	D705E	probably damaging	Het
Pkd1l3	C	G	8: 110,373,008 (GRCm39)	N1284K	probably damaging	Het
Plekhg2	A	G	7: 28,064,741 (GRCm39)	F407S	probably damaging	Het
Pygl	A	G	12: 70,274,113 (GRCm39)		probably null	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rhobtb1	A	G	10: 69,084,720 (GRCm39)	N37S	probably damaging	Het
Sema6a	T	A	18: 47,424,972 (GRCm39)	D213V	probably damaging	Het
Skint11	A	T	4: 114,101,806 (GRCm39)	Q273L	possibly damaging	Het
Skint7	A	T	4: 111,839,426 (GRCm39)	H240L	probably benign	Het
Slc12a2	C	T	18: 58,054,944 (GRCm39)	Q862*	probably null	Het
Smox	A	G	2: 131,364,100 (GRCm39)	S468G	probably benign	Het
Spc25	A	G	2: 69,035,257 (GRCm39)	S50P	probably damaging	Het
Srrm1	A	T	4: 135,052,326 (GRCm39)	S683T	unknown	Het
Syne1	T	C	10: 5,220,970 (GRCm39)	E3103G	probably benign	Het
Tenm4	C	A	7: 96,378,553 (GRCm39)		probably benign	Het
Tent4b	T	A	8: 88,974,186 (GRCm39)	I294N	probably damaging	Het
Tmem123	T	C	9: 7,791,064 (GRCm39)	S122P	possibly damaging	Het
Trav18	A	T	14: 54,068,572 (GRCm39)	K4I	probably benign	Het
Triml1	T	C	8: 43,583,420 (GRCm39)	S394G	probably damaging	Het
Ubr4	A	T	4: 139,195,413 (GRCm39)	S1212C	unknown	Het
Usp34	G	A	11: 23,311,295 (GRCm39)	R442Q		Het
Usp43	G	A	11: 67,782,284 (GRCm39)	P378L	probably damaging	Het
Vmn1r212	A	G	13: 23,067,935 (GRCm39)	F133L	probably benign	Het
Vmn1r213	A	G	13: 23,195,910 (GRCm39)	I164M	possibly damaging	Het
Vmn2r19	C	T	6: 123,292,998 (GRCm39)	P347S	probably damaging	Het
Zfp106	A	T	2: 120,355,000 (GRCm39)	V1280E	possibly damaging	Het
Zfp317	T	C	9: 19,553,265 (GRCm39)	S13P	probably benign	Het
Zfp608	C	A	18: 55,032,618 (GRCm39)	A441S	probably benign	Het
Zup1	T	C	10: 33,816,248 (GRCm39)	D232G	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
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
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'- TGCTCAGTCTCCTTAAGGCC -3'
(R):5'- AATTCTAGAGCAGGTGGGCC -3'

Sequencing Primer
(F):5'- AGTCTCCTTAAGGCCTACTAGC -3'
(R):5'- CCAGTGGCGGGCAGAGG -3'

Posted On

2020-01-23