Mutagenetix > Incidental Mutation

Incidental Mutation 'R9025:Oplah'

686510

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

068854-MU

Accession Numbers

Essential gene?

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

Stock #

R9025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76180801-76212215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76187417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 556 (E556V)

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: E556V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: E556V

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: E556V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: E556V

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: E556V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: E556V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	T	6: 128,534,545 (GRCm39)	N837K	possibly damaging	Het
Adam29	A	T	8: 56,325,196 (GRCm39)	C419*	probably null	Het
Adamts7	C	A	9: 90,067,848 (GRCm39)	S446*	probably null	Het
Ager	A	G	17: 34,819,594 (GRCm39)	R371G	probably damaging	Het
Apobr	T	A	7: 126,185,629 (GRCm39)	V380E	possibly damaging	Het
Arhgap26	T	C	18: 39,379,898 (GRCm39)	S105P		Het
Atrip	A	G	9: 108,902,906 (GRCm39)	F56S	probably damaging	Het
Bag2	T	C	1: 33,785,905 (GRCm39)	Y139C		Het
Bccip	C	T	7: 133,319,346 (GRCm39)	Q146*	probably null	Het
Btbd10	G	A	7: 112,951,031 (GRCm39)	R20W	possibly damaging	Het
Catsperd	T	A	17: 56,962,156 (GRCm39)	N443K	probably damaging	Het
Cdh26	G	A	2: 178,104,409 (GRCm39)	E265K	probably benign	Het
Cep76	T	C	18: 67,767,885 (GRCm39)	R216G	probably damaging	Het
Cgas	C	A	9: 78,349,787 (GRCm39)	V192L	probably benign	Het
Cnot1	T	A	8: 96,475,660 (GRCm39)	M1000L	probably benign	Het
Cyp1a1	A	G	9: 57,610,070 (GRCm39)	T495A	possibly damaging	Het
Cyp2w1	T	A	5: 139,342,470 (GRCm39)	M421K	probably benign	Het
Dlg5	T	C	14: 24,199,546 (GRCm39)	T1453A	probably benign	Het
Dnah5	G	T	15: 28,409,412 (GRCm39)	W3610L	probably damaging	Het
Dnah9	T	C	11: 65,896,651 (GRCm39)	D2391G	probably damaging	Het
Dnajc10	G	A	2: 80,179,637 (GRCm39)	G724R	probably damaging	Het
Dst	T	A	1: 34,227,585 (GRCm39)	I1726N	possibly damaging	Het
Dync2h1	A	T	9: 7,139,462 (GRCm39)	L1391*	probably null	Het
Dzank1	T	C	2: 144,318,012 (GRCm39)	S718G	probably benign	Het
E230025N22Rik	T	C	18: 36,819,890 (GRCm39)	D300G	probably damaging	Het
Ebf3	T	C	7: 136,914,098 (GRCm39)	I131V	possibly damaging	Het
Eif3g	T	C	9: 20,807,426 (GRCm39)	I131V	probably benign	Het
Eppk1	T	A	15: 75,990,503 (GRCm39)	Q2126L	possibly damaging	Het
Fam83h	T	C	15: 75,874,182 (GRCm39)	R1052G	probably benign	Het
Fry	A	T	5: 150,219,273 (GRCm39)		probably benign	Het
Ggt6	C	T	11: 72,328,123 (GRCm39)	H208Y	possibly damaging	Het
Gm15821	T	A	17: 34,433,235 (GRCm39)	E28V	unknown	Het
Gprin2	T	C	14: 33,916,957 (GRCm39)	Q271R	probably damaging	Het
Gsdmd	T	C	15: 75,739,053 (GRCm39)	F477L	probably benign	Het
Hes7	T	C	11: 69,013,782 (GRCm39)	S214P	probably benign	Het
Hmcn2	A	G	2: 31,347,967 (GRCm39)	H4871R	possibly damaging	Het
Il15ra	G	A	2: 11,723,233 (GRCm39)	V86I	possibly damaging	Het
Il17rb	C	A	14: 29,724,857 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnab2	T	C	4: 152,491,635 (GRCm39)	Y63C	probably damaging	Het
Kctd17	A	T	15: 78,314,282 (GRCm39)	Y84F	probably damaging	Het
Lama1	T	A	17: 68,119,491 (GRCm39)	V2656E		Het
Lama2	T	C	10: 26,860,367 (GRCm39)	N3040S	probably benign	Het
Ldha	C	T	7: 46,500,433 (GRCm39)	R173C	unknown	Het
Lig1	A	G	7: 13,037,746 (GRCm39)	I665M	probably damaging	Het
Lipe	G	A	7: 25,083,923 (GRCm39)	A412V	probably damaging	Het
Lrrc63	T	C	14: 75,322,284 (GRCm39)	T607A	probably benign	Het
Majin	G	A	19: 6,263,427 (GRCm39)		probably null	Het
Map3k19	A	G	1: 127,758,175 (GRCm39)	L335P	probably benign	Het
Map3k9	A	G	12: 81,819,507 (GRCm39)	L249P	probably damaging	Het
Muc5b	G	T	7: 141,426,209 (GRCm39)	D4769Y	probably damaging	Het
Myh9	T	C	15: 77,653,192 (GRCm39)	T1382A	probably benign	Het
Nedd4l	T	A	18: 65,311,995 (GRCm39)	D407E	probably damaging	Het
Ngp	A	G	9: 110,251,451 (GRCm39)	I160V	possibly damaging	Het
Nmrk1	A	G	19: 18,617,156 (GRCm39)		probably benign	Het
Nnmt	C	A	9: 48,503,461 (GRCm39)	K188N	probably damaging	Het
Nup153	T	A	13: 46,837,709 (GRCm39)	Q1171L	probably benign	Het
Or9g3	T	G	2: 85,589,879 (GRCm39)	L280F	possibly damaging	Het
Otog	A	G	7: 45,937,520 (GRCm39)	D1743G	probably benign	Het
Otogl	T	C	10: 107,613,432 (GRCm39)	Y2011C	probably damaging	Het
Pbx4	C	T	8: 70,317,097 (GRCm39)	P118L	probably benign	Het
Plekha6	T	A	1: 133,212,999 (GRCm39)	S757T	probably benign	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Polr3a	C	T	14: 24,519,479 (GRCm39)	S643N	probably damaging	Het
Pwp1	T	A	10: 85,718,745 (GRCm39)	L304Q	probably damaging	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,644,736 (GRCm39)	F350L	probably benign	Het
Safb2	T	C	17: 56,873,614 (GRCm39)	E683G	probably damaging	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Serpina3k	A	G	12: 104,307,230 (GRCm39)	E154G	probably damaging	Het
Sgsm3	T	A	15: 80,892,182 (GRCm39)	V250D	probably damaging	Het
Slit1	T	A	19: 41,612,968 (GRCm39)	I851F	probably benign	Het
Spag4	G	A	2: 155,910,424 (GRCm39)	G350E	probably damaging	Het
Sult2a7	A	T	7: 14,225,755 (GRCm39)	L77Q	probably damaging	Het
Tbc1d2	T	A	4: 46,607,062 (GRCm39)	T783S	probably damaging	Het
Thoc6	T	C	17: 23,888,862 (GRCm39)	E182G		Het
Tmem132a	A	T	19: 10,837,525 (GRCm39)	I595N	probably damaging	Het
Trim69	A	G	2: 122,003,771 (GRCm39)	N240S	probably benign	Het
Ush1c	A	T	7: 45,846,614 (GRCm39)		probably benign	Het
Wnk4	T	G	11: 101,153,641 (GRCm39)	Y234*	probably null	Het
Zfp943	A	G	17: 22,211,321 (GRCm39)	N136D	possibly damaging	Het
Znhit2	G	A	19: 6,111,669 (GRCm39)	R138H	possibly 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
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
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'- CTGAGACCTGTAGGAAGCAG -3'
(R):5'- TTGAGGATTGTCCCCACACC -3'

Sequencing Primer
(F):5'- ACTTACCCAGTACTATCTGAGGG -3'
(R):5'- CGCCGCACCACCCATTTC -3'

Posted On

2021-10-11