Mutagenetix > Incidental Mutation

Incidental Mutation 'R0609:Oplah'

54565

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

038798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0609 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

76180801-76212215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76187192 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 570 (S570P)

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: S570P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: S570P

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: S570P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: S570P

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: ENSMUST00000169664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170063

Predicted Effect

probably benign
Transcript: ENSMUST00000171340
AA Change: S570P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: S570P

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: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	T	14: 35,533,418 (GRCm39)		probably null	Het
Abcb4	T	A	5: 8,997,376 (GRCm39)	C952S	probably damaging	Het
Adamtsl2	A	G	2: 26,979,647 (GRCm39)	D272G	probably benign	Het
Aim2	G	A	1: 173,289,530 (GRCm39)	D158N	probably damaging	Het
Aldh3b1	C	T	19: 3,964,024 (GRCm39)	R426H	probably damaging	Het
Apoc2	A	G	7: 19,407,278 (GRCm39)	S28P	probably benign	Het
Arfgef3	G	A	10: 18,473,179 (GRCm39)	T1628I	probably benign	Het
Atp10a	G	A	7: 58,469,488 (GRCm39)		probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Bmp8b	T	A	4: 123,015,692 (GRCm39)	D226E	probably benign	Het
Brsk2	T	C	7: 141,552,229 (GRCm39)	Y618H	probably damaging	Het
Casp12	T	A	9: 5,346,554 (GRCm39)	F27Y	probably damaging	Het
Casp8	T	A	1: 58,883,951 (GRCm39)	N439K	probably benign	Het
Ccdc175	T	A	12: 72,204,281 (GRCm39)	K253N	probably benign	Het
Cdc42bpa	A	G	1: 179,867,744 (GRCm39)	H193R	probably damaging	Het
Cdk17	T	C	10: 93,052,334 (GRCm39)	M105T	probably benign	Het
Cdon	C	A	9: 35,389,907 (GRCm39)	P854T	probably damaging	Het
Cep44	A	G	8: 56,997,187 (GRCm39)	M117T	possibly damaging	Het
Cep89	A	T	7: 35,134,955 (GRCm39)	E674D	probably damaging	Het
Cit	C	T	5: 116,012,002 (GRCm39)	A203V	probably damaging	Het
Clstn1	C	A	4: 149,713,757 (GRCm39)		probably null	Het
Col7a1	T	A	9: 108,787,215 (GRCm39)	D565E	unknown	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Cps1	T	G	1: 67,211,961 (GRCm39)	Y710D	probably damaging	Het
Creb3l1	T	C	2: 91,817,398 (GRCm39)	T372A	possibly damaging	Het
Dars1	A	G	1: 128,333,118 (GRCm39)	V102A	probably benign	Het
Dhx35	C	T	2: 158,659,335 (GRCm39)	T168I	possibly damaging	Het
Dnah5	T	C	15: 28,327,925 (GRCm39)	S2100P	probably benign	Het
Dst	T	C	1: 34,306,041 (GRCm39)		probably null	Het
Egflam	A	C	15: 7,283,004 (GRCm39)	L351R	possibly damaging	Het
Elp2	T	A	18: 24,759,213 (GRCm39)	D523E	probably benign	Het
Exo5	C	A	4: 120,778,881 (GRCm39)	G328V	probably damaging	Het
Fut9	A	G	4: 25,620,811 (GRCm39)	M1T	probably null	Het
Galnt5	A	G	2: 57,914,637 (GRCm39)	N584S	possibly damaging	Het
Gbp3	T	C	3: 142,273,533 (GRCm39)	V360A	probably damaging	Het
Gdf6	G	A	4: 9,859,977 (GRCm39)	C353Y	probably damaging	Het
Hace1	A	G	10: 45,524,965 (GRCm39)	T244A	probably damaging	Het
Hr	T	C	14: 70,797,097 (GRCm39)	I500T	probably benign	Het
Ifnl2	A	T	7: 28,208,707 (GRCm39)	L115Q	probably damaging	Het
Iigp1	T	C	18: 60,522,896 (GRCm39)	F5L	probably benign	Het
Inhbb	A	G	1: 119,345,146 (GRCm39)	L381P	probably damaging	Het
Irx3	A	T	8: 92,527,721 (GRCm39)	S50T	probably benign	Het
Ivns1abp	C	T	1: 151,235,896 (GRCm39)	T363I	probably benign	Het
Izumo1	A	T	7: 45,272,323 (GRCm39)	T35S	probably benign	Het
Kank4	A	G	4: 98,665,342 (GRCm39)	S651P	probably damaging	Het
Kit	T	C	5: 75,771,539 (GRCm39)	V232A	probably benign	Het
Klhl11	T	C	11: 100,354,540 (GRCm39)	Y427C	probably damaging	Het
Laptm4b	T	A	15: 34,258,835 (GRCm39)	N36K	probably damaging	Het
Lrrk1	T	C	7: 65,916,363 (GRCm39)		probably null	Het
Mamdc4	G	T	2: 25,454,205 (GRCm39)	Q1042K	probably benign	Het
Mical2	A	G	7: 111,920,647 (GRCm39)		probably null	Het
Ms4a3	C	A	19: 11,608,725 (GRCm39)	V176F	possibly damaging	Het
Myo3a	T	C	2: 22,338,324 (GRCm39)	V427A	probably benign	Het
Myo3a	A	C	2: 22,401,110 (GRCm39)	E626D	possibly damaging	Het
Nckap5	A	T	1: 125,955,025 (GRCm39)	L509*	probably null	Het
Ndufa5	A	T	6: 24,519,248 (GRCm39)	D64E	possibly damaging	Het
Nedd4l	T	C	18: 65,341,532 (GRCm39)	Y753H	probably damaging	Het
Nynrin	T	C	14: 56,110,218 (GRCm39)	V1775A	probably damaging	Het
Or14c39	T	C	7: 86,344,084 (GRCm39)	V140A	possibly damaging	Het
Or2ag1b	A	T	7: 106,288,205 (GRCm39)	H244Q	probably damaging	Het
Or4q3	T	C	14: 50,583,383 (GRCm39)	Y141C	probably damaging	Het
Or5t18	A	G	2: 86,637,205 (GRCm39)	L46S	probably damaging	Het
Or9r3	G	A	10: 129,948,449 (GRCm39)	S70F	probably damaging	Het
Osbpl11	C	A	16: 33,054,814 (GRCm39)	Y632*	probably null	Het
Osbpl5	A	T	7: 143,248,558 (GRCm39)	L644Q	probably damaging	Het
Pcdhb19	T	C	18: 37,631,005 (GRCm39)	W267R	probably benign	Het
Pkhd1l1	A	C	15: 44,330,820 (GRCm39)	S132R	possibly damaging	Het
Pramel23	A	T	4: 143,425,073 (GRCm39)	D123E	probably benign	Het
Ptpn13	T	A	5: 103,704,011 (GRCm39)	S1348T	probably benign	Het
Rc3h1	T	A	1: 160,757,705 (GRCm39)	W8R	probably damaging	Het
Rgs3	T	G	4: 62,544,173 (GRCm39)	V315G	probably damaging	Het
Rora	T	A	9: 69,269,151 (GRCm39)	M82K	probably damaging	Het
Rph3al	T	C	11: 75,799,795 (GRCm39)	I55V	probably benign	Het
Sag	T	C	1: 87,740,713 (GRCm39)	V45A	probably damaging	Het
Scn3a	T	C	2: 65,366,854 (GRCm39)	E56G	probably damaging	Het
Sec24c	T	G	14: 20,737,016 (GRCm39)	V324G	probably damaging	Het
Sptbn1	A	G	11: 30,088,979 (GRCm39)	L748S	probably damaging	Het
Stard9	A	T	2: 120,536,787 (GRCm39)	D4186V	probably damaging	Het
Stk39	T	C	2: 68,196,511 (GRCm39)	E306G	probably damaging	Het
Sycp1	C	A	3: 102,806,165 (GRCm39)		probably null	Het
Taf2	A	C	15: 54,923,446 (GRCm39)	L277R	probably damaging	Het
Tasor	C	T	14: 27,183,707 (GRCm39)	T722I	probably benign	Het
Tbc1d23	T	A	16: 56,993,469 (GRCm39)	I566F	possibly damaging	Het
Tekt5	T	C	16: 10,179,168 (GRCm39)	T400A	possibly damaging	Het
Tgfbrap1	T	C	1: 43,099,301 (GRCm39)	H401R	probably benign	Het
Tie1	T	A	4: 118,333,344 (GRCm39)	I841L	possibly damaging	Het
Tln1	T	G	4: 43,544,645 (GRCm39)	T1095P	possibly damaging	Het
Tmem147	A	G	7: 30,427,527 (GRCm39)	Y72H	probably benign	Het
Tnfaip2	A	G	12: 111,419,941 (GRCm39)	N691S	probably benign	Het
Trim24	G	A	6: 37,934,718 (GRCm39)	C811Y	probably damaging	Het
Trim30b	T	A	7: 104,007,183 (GRCm39)		probably benign	Het
Trpc4	T	G	3: 54,102,189 (GRCm39)	L29R	probably damaging	Het
Trpm6	A	T	19: 18,803,226 (GRCm39)	I890F	probably damaging	Het
Ttc23l	C	T	15: 10,504,622 (GRCm39)	E442K	probably benign	Het
Tut7	A	T	13: 59,947,596 (GRCm39)	C506*	probably null	Het
Uggt2	A	G	14: 119,332,748 (GRCm39)	V62A	probably damaging	Het
Ugt1a6a	C	A	1: 88,066,606 (GRCm39)	S137R	probably benign	Het
Unc13a	A	G	8: 72,111,111 (GRCm39)	Y367H	probably damaging	Het
Vmn2r49	A	G	7: 9,710,233 (GRCm39)	I833T	probably benign	Het
Vmn2r7	T	C	3: 64,623,900 (GRCm39)	D231G	probably benign	Het
Ythdc2	A	T	18: 44,997,424 (GRCm39)	M994L	probably benign	Het
Zfp804a	G	A	2: 82,087,932 (GRCm39)	S587N	probably damaging	Het
Zswim2	A	G	2: 83,754,003 (GRCm39)	I219T	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
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
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'- GCCAAACTCTCTCATGTACCTGCAC -3'
(R):5'- AGCACAGCACTGGCTTTGTCTC -3'

Sequencing Primer
(F):5'- ACCCATCAAAGGGAGCAATG -3'
(R):5'- CCACCTCCCCTTTGGTTGG -3'

Posted On

2013-07-11