Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Oplah'

453805

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76296601-76328015 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 76297347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000074173] [ENSMUST00000163991] [ENSMUST00000164189] [ENSMUST00000171192] [ENSMUST00000171340] [ENSMUST00000230221]

AlphaFold

Q8K010

Predicted Effect

probably benign
Transcript: ENSMUST00000023222

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562

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

noncoding transcript
Transcript: ENSMUST00000163977

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

noncoding transcript
Transcript: ENSMUST00000169664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170261

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: ENSMUST00000171340

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562

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: ENSMUST00000230735

Predicted Effect

probably benign
Transcript: ENSMUST00000230221

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,498	D111G	probably benign	Het
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Agbl1	T	C	7: 76,325,098	S113P	probably benign	Het
Ak9	A	G	10: 41,348,049	D486G	probably benign	Het
Arhgap11a	T	C	2: 113,834,847	S469G	probably null	Het
Ccdc144b	A	T	3: 36,032,877	D189E	possibly damaging	Het
Comtd1	C	T	14: 21,848,120	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,736,684	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,916,184		probably benign	Het
Dennd4c	T	C	4: 86,825,986	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,389,435	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,990,504		probably null	Het
Flcn	T	A	11: 59,804,760	I4L	probably damaging	Het
Grin2c	T	C	11: 115,260,991	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,556	S456R	probably benign	Het
Igf1r	A	G	7: 68,190,033	D696G	probably benign	Het
Iqgap1	A	T	7: 80,803,158	V13D	probably benign	Het
Itgal	A	G	7: 127,317,320	N728S	probably benign	Het
Kcnb1	T	A	2: 167,106,026	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,458,795		probably benign	Het
Kdm4a	C	T	4: 118,161,840	R393Q	probably benign	Het
Lcn9	G	A	2: 25,823,256		probably null	Het
Madcam1	T	A	10: 79,664,990	M47K	probably benign	Het
Matn3	A	G	12: 8,958,829	Q314R	probably benign	Het
Msh3	A	T	13: 92,249,878	D826E	possibly damaging	Het
Muc4	A	T	16: 32,774,839	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,086,935		probably null	Het
Myo15b	A	G	11: 115,881,933	K1807E	probably damaging	Het
Myrip	A	G	9: 120,453,693	D688G	probably damaging	Het
Nup153	A	G	13: 46,686,976	F1052S	probably damaging	Het
Olfr1013	A	T	2: 85,770,424	I208F	probably benign	Het
Olfr1316	A	T	2: 112,129,878	I311K	probably benign	Het
Olfr1336	A	T	7: 6,460,994	I162F	possibly damaging	Het
Olfr584	T	A	7: 103,085,521	M1K	probably null	Het
Pacsin2	A	G	15: 83,390,518	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,439,157	P363Q	probably damaging	Het
Rai1	C	A	11: 60,190,521	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rnf214	G	A	9: 45,868,088	P455S	probably damaging	Het
Rnf220	T	C	4: 117,277,612	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,499,323	V106M	possibly damaging	Het
Sall2	C	A	14: 52,314,247	S495I	probably benign	Het
Sars2	A	G	7: 28,744,258	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,682,616	T693M	probably damaging	Het
Slfn2	C	A	11: 83,069,576	T127K	probably benign	Het
Snrpe	T	A	1: 133,608,914	I43L	probably benign	Het
Srsf1	T	C	11: 88,047,858	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,476,903		probably benign	Het
Stbd1	T	G	5: 92,604,995	F115V	probably benign	Het
Stk11ip	T	A	1: 75,527,355		probably null	Het
Taf1b	T	A	12: 24,500,525	N36K	probably damaging	Het
Tanc1	A	T	2: 59,799,904	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,686,967	R208L	probably damaging	Het
Trafd1	T	C	5: 121,373,471	D428G	probably damaging	Het
Trim24	A	G	6: 37,957,729	E793G	probably damaging	Het
Tspan32	T	C	7: 143,015,587	C100R	probably damaging	Het
Ttn	T	C	2: 76,746,242	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,658,409	L894Q	probably damaging	Het
Wfs1	C	G	5: 36,973,264	G213R	probably damaging	Het
Zfp384	G	A	6: 125,024,099	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,031,087	K690N	probably damaging	Het

Other mutations in Oplah

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Oplah	APN	15	76305748	missense	probably damaging	1.00
IGL01132:Oplah	APN	15	76300957	missense	probably benign	0.28
IGL02252:Oplah	APN	15	76304764	missense	probably damaging	1.00
IGL02493:Oplah	APN	15	76300955	nonsense	probably null
R0033:Oplah	UTSW	15	76297134	missense	probably benign	0.03
R0418:Oplah	UTSW	15	76298487	missense	probably benign	0.06
R0609:Oplah	UTSW	15	76302992	missense	probably benign	0.00
R1374:Oplah	UTSW	15	76306555	missense	probably damaging	0.99
R1419:Oplah	UTSW	15	76297920	missense	probably benign	0.41
R1703:Oplah	UTSW	15	76296667	missense	probably benign	0.02
R1733:Oplah	UTSW	15	76302483	nonsense	probably null
R1959:Oplah	UTSW	15	76297464	missense	probably damaging	1.00
R1960:Oplah	UTSW	15	76297464	missense	probably damaging	1.00
R1961:Oplah	UTSW	15	76297464	missense	probably damaging	1.00
R2290:Oplah	UTSW	15	76302725	missense	probably benign	0.00
R3552:Oplah	UTSW	15	76302094	missense	possibly damaging	0.78
R4019:Oplah	UTSW	15	76297276	missense	probably damaging	1.00
R4020:Oplah	UTSW	15	76297276	missense	probably damaging	1.00
R4207:Oplah	UTSW	15	76302710	missense	probably damaging	1.00
R4512:Oplah	UTSW	15	76297955	missense	probably damaging	1.00
R4514:Oplah	UTSW	15	76297955	missense	probably damaging	1.00
R4525:Oplah	UTSW	15	76305509	missense	probably damaging	1.00
R4803:Oplah	UTSW	15	76302768	missense	probably damaging	1.00
R5042:Oplah	UTSW	15	76305709	nonsense	probably null
R5259:Oplah	UTSW	15	76301210	splice site	probably null
R5284:Oplah	UTSW	15	76306559	missense	probably benign	0.00
R5503:Oplah	UTSW	15	76305446	critical splice donor site	probably null
R5511:Oplah	UTSW	15	76305744	missense	possibly damaging	0.74
R5549:Oplah	UTSW	15	76298266	missense	probably damaging	0.98
R5594:Oplah	UTSW	15	76296637	makesense	probably null
R5631:Oplah	UTSW	15	76305241	missense	probably benign	0.01
R6776:Oplah	UTSW	15	76300853	missense	possibly damaging	0.94
R7105:Oplah	UTSW	15	76297687	missense	probably damaging	1.00
R7146:Oplah	UTSW	15	76302660	missense	probably benign
R7267:Oplah	UTSW	15	76305009	missense	probably benign	0.00
R7403:Oplah	UTSW	15	76305009	missense	probably benign	0.00
R7786:Oplah	UTSW	15	76309716	missense	possibly damaging	0.93
R8029:Oplah	UTSW	15	76305696	missense	probably benign
R8054:Oplah	UTSW	15	76306257	missense	probably benign	0.00
R8202:Oplah	UTSW	15	76302469	missense	probably benign	0.22
R8913:Oplah	UTSW	15	76297480	missense
R9025:Oplah	UTSW	15	76303217	missense	probably benign	0.01
R9106:Oplah	UTSW	15	76305676	missense	probably benign	0.13
R9130:Oplah	UTSW	15	76300898	missense	possibly damaging	0.67
R9364:Oplah	UTSW	15	76309587	missense	probably benign	0.16
R9554:Oplah	UTSW	15	76309587	missense	probably benign	0.16
R9780:Oplah	UTSW	15	76297740	missense	probably damaging	0.99
X0065:Oplah	UTSW	15	76305163	nonsense	probably null
Z1177:Oplah	UTSW	15	76298487	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCCGAAAGACCAGCTCTC -3'
(R):5'- TCACATCTCAGCGAGTCGTG -3'

Sequencing Primer
(F):5'- AGACCAGCTCTCGGACTACG -3'
(R):5'- CAGCGAGTCGTGGATGTCATC -3'

Posted On

2017-02-10