Mutagenetix > Incidental Mutations

Incidental Mutation 'R4019:Oplah'

312701

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

040953-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R4019 (G1)

Quality Score

215

Status

Not 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: 94.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	T	C	9: 106,436,779	T61A	possibly damaging	Het
Ap4e1	C	T	2: 127,061,926	S916F	probably benign	Het
Brpf1	G	A	6: 113,310,282	R157Q	probably damaging	Het
Canx	A	T	11: 50,299,245	S429T	probably damaging	Het
Casz1	C	T	4: 148,932,878	P208L	probably benign	Het
Ctnnd1	C	T	2: 84,619,958	R306H	probably damaging	Het
Dip2c	T	C	13: 9,614,365	V909A	probably damaging	Het
Epg5	C	A	18: 78,030,450	Q2511K	probably damaging	Het
Ghitm	G	A	14: 37,130,694	A143V	probably damaging	Het
Gm884	A	G	11: 103,615,293	S1950P	probably benign	Het
Gramd3	T	C	18: 56,478,954		probably null	Het
Ifitm3	T	C	7: 141,009,859	T94A	possibly damaging	Het
Ift81	G	A	5: 122,593,129	T321M	probably benign	Het
Ikbkb	C	T	8: 22,671,712	V387I	probably benign	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lpar5	A	G	6: 125,081,675	N120D	probably damaging	Het
Lrrtm2	T	C	18: 35,212,870	I460V	possibly damaging	Het
Naip5	T	C	13: 100,223,375	E451G	probably benign	Het
Naip5	T	C	13: 100,223,394	I445V	probably benign	Het
Nbas	A	G	12: 13,482,519	R1743G	probably damaging	Het
Notch1	T	C	2: 26,481,142	T311A	probably benign	Het
Olfr1211	A	G	2: 88,929,736	I193T	probably benign	Het
Olfr552	T	C	7: 102,604,642	F96S	probably damaging	Het
Pcnx	C	T	12: 81,918,244	T395I	probably damaging	Het
Pdgfb	A	C	15: 80,001,722	V108G	probably damaging	Het
Pdzd3	A	T	9: 44,250,820		probably null	Het
Prpf40b	T	C	15: 99,316,476	S846P	probably benign	Het
Ptprc	T	A	1: 138,078,516	H752L	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Scn3a	A	G	2: 65,525,951		probably benign	Het
Sco1	T	G	11: 67,064,020	S284A	probably benign	Het
Slc25a10	T	A	11: 120,497,439	M227K	probably damaging	Het
Sox8	A	G	17: 25,570,297	Y76H	probably damaging	Het
Spdya	A	C	17: 71,556,314	K19N	possibly damaging	Het
Syngap1	C	T	17: 26,952,341		probably benign	Het
Sytl3	T	C	17: 6,736,493	S326P	probably damaging	Het
Tbl3	A	G	17: 24,704,721	V239A	probably damaging	Het
Tenm2	T	C	11: 36,047,074	I1592V	probably benign	Het
Vmn2r109	T	A	17: 20,553,812	D427V	probably benign	Het
Vmn2r115	A	G	17: 23,360,043	K830R	probably damaging	Het
Vmn2r45	A	T	7: 8,471,581	L816*	probably null	Het
Zfp335	C	T	2: 164,901,460	R536H	probably damaging	Het
Zfp777	T	A	6: 48,042,112	Q296L	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
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	intron	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
X0065:Oplah	UTSW	15	76305163	nonsense	probably null

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