Mutagenetix > Incidental Mutation

Incidental Mutation 'R8029:Oplah'

617854

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

067468-MU

Accession Numbers

Essential gene?

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

Stock #

R8029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76180801-76212215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76189896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 143 (Y143C)

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: Y143C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: Y143C

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: Y143C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: Y143C

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: Y143C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: Y143C

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 damaging
Transcript: ENSMUST00000210024
AA Change: Y239C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	A	G	2: 58,186,129 (GRCm39)	I118T	possibly damaging	Het
Alpk1	T	C	3: 127,522,934 (GRCm39)	D36G	possibly damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Arhgef1	T	C	7: 24,619,163 (GRCm39)	L468P	probably damaging	Het
Armc2	A	T	10: 41,802,996 (GRCm39)	L559Q	probably damaging	Het
Asb3	A	T	11: 31,051,180 (GRCm39)	R506*	probably null	Het
Aspm	A	G	1: 139,399,370 (GRCm39)	H1045R	probably benign	Het
Cacna1g	G	T	11: 94,300,564 (GRCm39)	R2099S	probably benign	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Cd34	A	C	1: 194,640,860 (GRCm39)	M242L	probably benign	Het
Cdh24	T	A	14: 54,876,856 (GRCm39)	N49I	probably damaging	Het
Ces2b	A	G	8: 105,561,482 (GRCm39)	N192S	probably damaging	Het
Chsy3	A	G	18: 59,312,519 (GRCm39)	I331V	possibly damaging	Het
Disp1	A	G	1: 182,870,852 (GRCm39)	S523P	probably damaging	Het
Dlgap5	T	C	14: 47,653,897 (GRCm39)	H44R	probably benign	Het
Dnajc30	G	T	5: 135,093,186 (GRCm39)	A28S	probably benign	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd1	A	T	2: 119,359,204 (GRCm39)	H226Q	probably damaging	Het
Gata6	T	A	18: 11,054,944 (GRCm39)	V291E	possibly damaging	Het
Get3	T	C	8: 85,746,456 (GRCm39)	M131V	probably benign	Het
Gfi1b	A	T	2: 28,503,687 (GRCm39)		probably null	Het
Grk3	T	A	5: 113,109,508 (GRCm39)	I150L	probably benign	Het
Gstcd	C	T	3: 132,787,868 (GRCm39)	V277M	probably damaging	Het
Idua	T	C	5: 108,817,278 (GRCm39)	F17S	probably benign	Het
Ighg1	T	C	12: 113,292,765 (GRCm39)	K268R		Het
Lama1	G	T	17: 68,124,589 (GRCm39)	R2883M		Het
Lpar3	T	C	3: 145,946,718 (GRCm39)	M132T	probably benign	Het
Macf1	T	C	4: 123,338,685 (GRCm39)	T4351A	possibly damaging	Het
Marchf6	A	G	15: 31,496,148 (GRCm39)		probably null	Het
Mbtps1	C	A	8: 120,274,544 (GRCm39)		probably benign	Het
Mctp1	T	C	13: 77,178,005 (GRCm39)	Y931H	probably damaging	Het
Mug2	A	G	6: 122,058,504 (GRCm39)		probably null	Het
Myh1	G	T	11: 67,102,066 (GRCm39)		probably null	Het
Mylk2	T	C	2: 152,762,219 (GRCm39)	S497P	probably damaging	Het
Nectin4	A	G	1: 171,214,255 (GRCm39)	D470G	probably benign	Het
Nop2	C	T	6: 125,121,383 (GRCm39)	P722S	possibly damaging	Het
Nphp1	T	C	2: 127,583,036 (GRCm39)	T626A	probably benign	Het
Nudt9	C	T	5: 104,198,477 (GRCm39)		probably benign	Het
Or10a3m	T	A	7: 108,313,037 (GRCm39)	F159Y	possibly damaging	Het
Or12e10	A	G	2: 87,640,376 (GRCm39)	T71A	probably benign	Het
Or7e178	A	G	9: 20,225,643 (GRCm39)	F191S	possibly damaging	Het
Or7g20	T	C	9: 18,947,090 (GRCm39)	S224P	probably damaging	Het
Osbpl1a	T	G	18: 13,047,578 (GRCm39)	E125D	probably benign	Het
P2ry1	C	A	3: 60,910,943 (GRCm39)	N27K	possibly damaging	Het
Palld	A	T	8: 62,330,346 (GRCm39)	I177N	probably damaging	Het
Plcl1	A	T	1: 55,735,237 (GRCm39)	I193L	probably benign	Het
Polr1a	T	A	6: 71,889,940 (GRCm39)	L53*	probably null	Het
Ppp1r9a	A	G	6: 5,057,518 (GRCm39)	E531G	possibly damaging	Het
Prex1	C	A	2: 166,417,523 (GRCm39)	Q1361H	probably benign	Het
Ptprc	T	C	1: 138,006,197 (GRCm39)	E795G	probably damaging	Het
Rars1	C	T	11: 35,711,992 (GRCm39)	V295I	probably damaging	Het
Rnaseh2b	T	C	14: 62,590,997 (GRCm39)	V116A	possibly damaging	Het
Rnf43	T	A	11: 87,622,720 (GRCm39)	L480H	probably benign	Het
Rttn	A	G	18: 89,108,598 (GRCm39)	T1601A	not run	Het
Setd1a	C	G	7: 127,385,386 (GRCm39)	Q698E	probably benign	Het
Sh3gl3	T	C	7: 81,920,091 (GRCm39)	Y100H	probably benign	Het
Sis	T	C	3: 72,828,475 (GRCm39)	Y1200C	probably damaging	Het
Snx13	A	C	12: 35,169,885 (GRCm39)	H610P	probably damaging	Het
Spata31d1e	T	C	13: 59,890,191 (GRCm39)	H543R	possibly damaging	Het
Spdl1	T	C	11: 34,713,419 (GRCm39)	R217G	probably benign	Het
Spop	G	A	11: 95,365,193 (GRCm39)	E113K	probably benign	Het
Sult2a3	G	A	7: 13,855,553 (GRCm39)	P101L	probably damaging	Het
Tbl1xr1	C	T	3: 22,254,600 (GRCm39)	H348Y	probably damaging	Het
Tmie	T	C	9: 110,696,555 (GRCm39)	T109A	possibly damaging	Het
Ttc12	A	G	9: 49,381,551 (GRCm39)	V140A	possibly damaging	Het
Ube2m	A	G	7: 12,770,524 (GRCm39)	L58P	probably damaging	Het
Urb1	A	G	16: 90,576,040 (GRCm39)	S839P	possibly damaging	Het
Vmn2r117	T	A	17: 23,696,744 (GRCm39)	D221V	probably benign	Het
Vps41	C	T	13: 19,007,955 (GRCm39)	Q263*	probably null	Het
Zfand3	A	T	17: 30,354,407 (GRCm39)	T75S	probably benign	Het
Zscan26	A	G	13: 21,629,520 (GRCm39)	C202R	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
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'- TGTGAATGCCCCGAGTCAAG -3'
(R):5'- GGCCATTTTGACTGTCTCCTAG -3'

Sequencing Primer
(F):5'- GTCAAGAGCCCCTCCAGCTTC -3'
(R):5'- GACTGTCTCCTAGCTTTTTGGAAC -3'

Posted On

2020-01-23