Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Oplah'

269018

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76296601-76328015 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76302094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 734 (D734N)

Ref Sequence

ENSEMBL: ENSMUSP00000129100 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023222] [ENSMUST00000164189] [ENSMUST00000165279] [ENSMUST00000171340] [ENSMUST00000210024]

AlphaFold

Q8K010

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023222
AA Change: D734N

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: D734N

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

noncoding transcript
Transcript: ENSMUST00000163127

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163977

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164189
AA Change: D734N

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: D734N

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

noncoding transcript
Transcript: ENSMUST00000169664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170063

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170261

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171340
AA Change: D734N

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: D734N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230735

Meta Mutation Damage Score

0.3515

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	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
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
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
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
X0065:Oplah	UTSW	15	76305163	nonsense	probably null
Z1177:Oplah	UTSW	15	76298487	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TCTGCCAGGTCATCACATGC -3'
(R):5'- AGGTTCTATCATTGGGGTATCTCC -3'

Sequencing Primer
(F):5'- GGTCATCACATGCAACGAGAGC -3'
(R):5'- CCCGGCGTGTAGTATTGACATC -3'

Posted On

2015-02-19