Mutagenetix > Incidental Mutation

Incidental Mutation 'R7267:Oplah'

565026

Institutional Source

Beutler Lab

Gene Symbol

Oplah

Ensembl Gene

ENSMUSG00000022562

Gene Name

5-oxoprolinase (ATP-hydrolysing)

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7267 (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 76189209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

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: D278G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023222
Gene: ENSMUSG00000022562
AA Change: D278G

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: D278G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131967
Gene: ENSMUSG00000022562
AA Change: D278G

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: D278G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000129100
Gene: ENSMUSG00000022562
AA Change: D278G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,916,205 (GRCm39)	I37T	probably damaging	Het
Ackr2	A	G	9: 121,737,874 (GRCm39)	Y83C	probably damaging	Het
Adam19	C	T	11: 46,012,403 (GRCm39)	Q300*	probably null	Het
Anxa7	C	T	14: 20,519,474 (GRCm39)	A115T	probably benign	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Atad2b	A	T	12: 5,077,105 (GRCm39)	R1109*	probably null	Het
Batf2	A	G	19: 6,221,396 (GRCm39)	T69A	probably benign	Het
Best1	A	G	19: 9,964,177 (GRCm39)	C428R	probably benign	Het
Birc6	A	G	17: 74,892,980 (GRCm39)	T973A	probably benign	Het
Bmp2k	C	T	5: 97,216,293 (GRCm39)	T597I	unknown	Het
Bmpr1a	G	A	14: 34,165,836 (GRCm39)	P57L	possibly damaging	Het
Camk2d	A	T	3: 126,591,379 (GRCm39)	H283L	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ces1b	C	A	8: 93,806,132 (GRCm39)	K36N	possibly damaging	Het
Ces2a	T	A	8: 105,465,672 (GRCm39)	M308K	probably benign	Het
Ctnnd2	C	A	15: 30,683,501 (GRCm39)	Q501K	probably benign	Het
Cyb561d1	T	C	3: 108,106,629 (GRCm39)	T197A	probably benign	Het
Dedd2	C	A	7: 24,918,391 (GRCm39)	A55S	probably damaging	Het
Dnah2	C	T	11: 69,391,643 (GRCm39)	R684Q	probably damaging	Het
Elovl3	A	G	19: 46,122,979 (GRCm39)	Y185C	probably damaging	Het
Fgf3	C	T	7: 144,392,569 (GRCm39)	A42V	probably damaging	Het
Gabra5	A	G	7: 57,140,529 (GRCm39)	L56P	probably damaging	Het
Gm19410	T	G	8: 36,281,997 (GRCm39)	V1860G	possibly damaging	Het
Gm21663	G	T	5: 26,143,751 (GRCm39)	N190K	probably damaging	Het
Grm3	T	A	5: 9,639,581 (GRCm39)	I155L	probably benign	Het
Hadha	A	G	5: 30,327,755 (GRCm39)	I495T	probably damaging	Het
Herc4	C	T	10: 63,109,365 (GRCm39)	A200V	possibly damaging	Het
Itga3	C	A	11: 94,967,188 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,602,289 (GRCm39)	S132N	probably benign	Het
Lpar1	T	C	4: 58,486,857 (GRCm39)	N138S	possibly damaging	Het
Lrrc42	T	A	4: 107,096,983 (GRCm39)	T247S	probably damaging	Het
Man2b1	T	A	8: 85,813,804 (GRCm39)	V256E	probably damaging	Het
Map3k4	G	T	17: 12,490,536 (GRCm39)	Y298*	probably null	Het
Mars1	A	G	10: 127,144,455 (GRCm39)	V195A	probably benign	Het
Mdm4	A	T	1: 132,922,311 (GRCm39)	V278E	probably benign	Het
Mdp1	A	G	14: 55,897,544 (GRCm39)	V37A	probably damaging	Het
Med13	A	G	11: 86,199,652 (GRCm39)	I685T	probably benign	Het
Mobp	A	G	9: 119,996,914 (GRCm39)	N15S	probably damaging	Het
Nbn	T	A	4: 15,979,320 (GRCm39)	M435K	probably benign	Het
Nfs1	A	G	2: 155,965,703 (GRCm39)	V126A	probably benign	Het
Npepl1	T	A	2: 173,963,909 (GRCm39)	V480E	probably damaging	Het
Nr2e3	G	A	9: 59,855,972 (GRCm39)	S155F	possibly damaging	Het
Or4c124	A	T	2: 89,156,157 (GRCm39)	Y122*	probably null	Het
Or51q1c	A	G	7: 103,653,046 (GRCm39)	H188R	probably benign	Het
Pard3	T	C	8: 128,098,056 (GRCm39)	Y366H	probably damaging	Het
Pcdhb11	A	G	18: 37,555,006 (GRCm39)	N112S	possibly damaging	Het
Pde11a	A	G	2: 76,168,189 (GRCm39)	S255P	probably damaging	Het
Piezo1	T	C	8: 123,224,268 (GRCm39)	H745R		Het
Pkn2	A	T	3: 142,517,776 (GRCm39)	S441T	possibly damaging	Het
Pld1	A	C	3: 28,130,550 (GRCm39)	H450P	probably damaging	Het
Plekhs1	T	A	19: 56,459,209 (GRCm39)	H22Q	probably damaging	Het
Prss44	A	C	9: 110,645,611 (GRCm39)	Y285S	probably damaging	Het
Qpctl	T	C	7: 18,878,852 (GRCm39)	E249G	probably benign	Het
Rcsd1	A	T	1: 165,491,185 (GRCm39)	S50T	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scube1	T	A	15: 83,505,266 (GRCm39)	N496Y	probably damaging	Het
Skic3	A	G	13: 76,328,196 (GRCm39)	M1415V	probably benign	Het
Slc16a8	AGGCC	A	15: 79,136,125 (GRCm39)		probably null	Het
Slc38a4	T	A	15: 96,903,781 (GRCm39)	T407S	probably benign	Het
Slc51a	T	G	16: 32,298,590 (GRCm39)	I56L	probably benign	Het
Slc6a18	T	G	13: 73,819,755 (GRCm39)	I272L	probably damaging	Het
Sorl1	A	G	9: 42,035,375 (GRCm39)	L12P	possibly damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Syne1	C	T	10: 5,178,218 (GRCm39)	R4752Q	probably damaging	Het
Tbc1d9	C	A	8: 83,997,957 (GRCm39)	H1171Q	probably damaging	Het
Thsd1	G	A	8: 22,733,597 (GRCm39)	V215I	probably benign	Het
Tmem143	T	A	7: 45,557,598 (GRCm39)	M208K	probably benign	Het
Tmem63b	C	T	17: 45,977,048 (GRCm39)	V440I	probably benign	Het
Tnik	A	T	3: 28,700,776 (GRCm39)	S918C	probably damaging	Het
Ttn	A	G	2: 76,733,751 (GRCm39)	I4508T	unknown	Het
Vav2	A	G	2: 27,173,334 (GRCm39)	F497L	probably damaging	Het
Zc3h14	G	A	12: 98,751,988 (GRCm39)	R730Q	probably damaging	Het
Zfp560	G	A	9: 20,259,384 (GRCm39)	H493Y	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
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
R8029:Oplah	UTSW	15	76,189,896 (GRCm39)	missense	probably benign
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'- ACAAGATGCTAGGAGTCGCC -3'
(R):5'- TGTGCAGATGCTTACCTCAC -3'

Sequencing Primer
(F):5'- TAGGAGTCGCCCCCAAGAC -3'
(R):5'- ATCCAGCGCTATGTGCAG -3'

Posted On

2019-06-26