Mutagenetix > Incidental Mutations

Incidental Mutation 'R4020:Oplah'

312759

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

040954-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R4020 (G1)

Quality Score

147

Status

Validated

Chromosome

Chromosomal Location

76296601-76328015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76297276 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1155 (Y1155H)

Ref Sequence

ENSEMBL: ENSMUSP00000129100 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000023222
AA Change: Y1155H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: Y1155H

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 damaging
Transcript: ENSMUST00000171340
AA Change: Y1155H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: Y1155H

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: ENSMUST00000230221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230735

Meta Mutation Damage Score

0.5353

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (54/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,012,575		probably benign	Het
Adcy7	G	C	8: 88,308,734	V89L	probably benign	Het
Aebp2	T	A	6: 140,642,295	S364T	probably damaging	Het
Akr1b10	C	T	6: 34,392,453	T206I	probably benign	Het
Ap4e1	C	T	2: 127,061,926	S916F	probably benign	Het
Apob	C	T	12: 7,994,914	Q845*	probably null	Het
Asb4	A	G	6: 5,390,803		probably benign	Het
C1ra	A	T	6: 124,519,777	T391S	probably benign	Het
Catsperg2	C	A	7: 29,717,004	D328Y	probably damaging	Het
Ciapin1	G	T	8: 94,829,186	L119M	probably damaging	Het
Crhr2	A	G	6: 55,100,780		probably benign	Het
Cyp2j6	A	G	4: 96,518,170	S455P	probably benign	Het
Dctn4	G	A	18: 60,538,257		probably benign	Het
Defa25	C	T	8: 21,085,229	R75C	probably benign	Het
Dnajc10	T	C	2: 80,344,952	L561P	probably damaging	Het
Dnajc7	A	T	11: 100,591,466	F185L	probably damaging	Het
Dock9	T	C	14: 121,606,855	I1175V	probably benign	Het
Drosha	T	G	15: 12,837,336	L302R	possibly damaging	Het
Efcab5	C	T	11: 77,104,104	V1214I	probably benign	Het
Erich3	G	A	3: 154,714,049	R260H	probably damaging	Het
Fam168b	T	C	1: 34,828,779	T47A	possibly damaging	Het
Gm884	A	G	11: 103,615,293	S1950P	probably benign	Het
Gm9573	T	C	17: 35,620,061		probably benign	Het
Gorasp1	G	A	9: 119,928,870	R290C	probably benign	Het
Gtf2a1	A	G	12: 91,572,577	S94P	possibly damaging	Het
Ighv1-53	C	T	12: 115,158,822	C5Y	probably benign	Het
Impdh1	T	C	6: 29,202,694	I446V	probably benign	Het
Krtap5-1	T	C	7: 142,296,357		probably null	Het
Lipo1	T	A	19: 33,787,404	I17L	probably benign	Het
Lss	T	C	10: 76,547,444	M526T	probably damaging	Het
Med12l	A	C	3: 59,247,942	Q1181P	probably damaging	Het
Mtrf1l	T	C	10: 5,817,454	T221A	probably benign	Het
Mxi1	C	A	19: 53,371,729	A294E	probably benign	Het
Naip5	T	C	13: 100,223,375	E451G	probably benign	Het
Naip5	T	C	13: 100,223,394	I445V	probably benign	Het
Nfrkb	T	A	9: 31,414,111	L950Q	possibly damaging	Het
Olfr1458	T	G	19: 13,102,426	K287Q	probably damaging	Het
Pcnx	C	T	12: 81,918,244	T395I	probably damaging	Het
Pdzd3	A	T	9: 44,250,820		probably null	Het
Pitrm1	A	G	13: 6,556,687	H259R	probably damaging	Het
Pllp	C	A	8: 94,679,444	M70I	possibly damaging	Het
Pop1	A	G	15: 34,508,780	T334A	probably benign	Het
Prep	T	C	10: 45,092,798		probably benign	Het
Ptprz1	C	A	6: 22,959,624		probably benign	Het
Sbsn	A	G	7: 30,755,965	S170G	probably damaging	Het
Sco1	T	G	11: 67,064,020	S284A	probably benign	Het
Slc25a10	T	A	11: 120,497,439	M227K	probably damaging	Het
Trav7-6	A	G	14: 53,717,181	K56R	probably benign	Het
Ubr4	T	G	4: 139,451,805	C3322G	probably damaging	Het
Unc5a	T	C	13: 55,003,369	Y608H	probably damaging	Het
Zfand1	A	C	3: 10,340,756	N262K	probably benign	Het
Zfp335	C	T	2: 164,901,460	R536H	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
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
R5849:Oplah	UTSW	15	76297347	unclassified	probably benign
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
X0065:Oplah	UTSW	15	76305163	nonsense	probably null
Z1177:Oplah	UTSW	15	76298487	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTAAGCCACGTGTACCAGGC -3'
(R):5'- CAATGTGACCCTGGGCAATG -3'

Sequencing Primer
(F):5'- AGGCTCTCCCCCTGTAGAAG -3'
(R):5'- CCGTATGGGCTACTATGAGAC -3'

Posted On

2015-04-30