Mutagenetix > Incidental Mutation

Incidental Mutation 'R6276:Prodh2'

507639

Institutional Source

Beutler Lab

Gene Symbol

Prodh2

Ensembl Gene

ENSMUSG00000036892

Gene Name

proline dehydrogenase (oxidase) 2

Synonyms

MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik

MMRRC Submission

044446-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6276 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30193047-30212827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30206076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 278 (H278R)

Ref Sequence

ENSEMBL: ENSMUSP00000114778 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058280] [ENSMUST00000130839] [ENSMUST00000131040] [ENSMUST00000133318] [ENSMUST00000142575]

AlphaFold

Q8VCZ9

Predicted Effect

probably benign
Transcript: ENSMUST00000058280
AA Change: H292R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: H292R

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
Pfam:Pro_dh	87	440	3.4e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122876

SMART Domains

Protein: ENSMUSP00000114278
Gene: ENSMUSG00000036892

Domain	Start	End	E-Value	Type
Pfam:Pro_dh	1	82	2.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130839

SMART Domains

Protein: ENSMUSP00000117480
Gene: ENSMUSG00000036892

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC
low complexity region	65	79	N/A	INTRINSIC
low complexity region	97	112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131040
AA Change: H231R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892
AA Change: H231R

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	33	47	N/A	INTRINSIC
low complexity region	65	80	N/A	INTRINSIC
Pfam:Pro_dh	91	260	5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133318

SMART Domains

Protein: ENSMUSP00000122546
Gene: ENSMUSG00000036892

Domain	Start	End	E-Value	Type
low complexity region	37	46	N/A	INTRINSIC
low complexity region	63	77	N/A	INTRINSIC
low complexity region	95	110	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142514

Predicted Effect

probably benign
Transcript: ENSMUST00000142575
AA Change: H278R

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892
AA Change: H278R

Domain	Start	End	E-Value	Type
low complexity region	57	68	N/A	INTRINSIC
Pfam:Pro_dh	147	284	6.5e-14	PFAM

Meta Mutation Damage Score

0.0812

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the first step in the catabolism of trans-4-hydroxy-L-proline, an amino acid derivative obtained through food intake and collagen turnover. One of the downstream products of this catabolism is glyoxylate, which in people with disorders of glyoxalate metabolism can lead to an increase in oxalate levels and the formation of calcium-oxalate kidney stones. Therefore, this gene may serve as a therapeutic target against primary hyperoxalurias (PH). This gene is similar to proline dehydrogenase (oxidase) 1, a mitochondrial enzyme that catalyzes the first step in proline catabolism. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	A	T	1: 125,322,874 (GRCm39)	D364E	probably benign	Het
Adra2c	C	T	5: 35,437,423 (GRCm39)	T65I	probably damaging	Het
Agap2	T	A	10: 126,925,229 (GRCm39)		probably null	Het
Ager	T	C	17: 34,817,728 (GRCm39)	V126A	possibly damaging	Het
Arhgap39	T	C	15: 76,621,736 (GRCm39)	I288M	probably benign	Het
Arhgap45	A	T	10: 79,862,068 (GRCm39)	S541C	probably benign	Het
Asb4	A	G	6: 5,431,043 (GRCm39)	Y426C	probably damaging	Het
Azi2	C	T	9: 117,878,406 (GRCm39)	T82I	probably damaging	Het
Baz2b	T	A	2: 59,778,567 (GRCm39)	R764S	probably damaging	Het
Ccdc146	A	C	5: 21,506,338 (GRCm39)	I701S	probably damaging	Het
Ccnq	T	C	11: 78,642,056 (GRCm39)	K145E	probably damaging	Het
Cd55b	T	A	1: 130,345,903 (GRCm39)	I172F	probably damaging	Het
Cdk11b	A	G	4: 155,718,647 (GRCm39)	E199G	probably benign	Het
Cntnap4	A	T	8: 113,478,921 (GRCm39)	T216S	possibly damaging	Het
D5Ertd579e	A	T	5: 36,761,858 (GRCm39)	N1336K	possibly damaging	Het
Dlg5	T	C	14: 24,214,636 (GRCm39)	N649S	probably damaging	Het
Dmxl1	A	G	18: 49,979,653 (GRCm39)	E96G	probably benign	Het
Dscaml1	C	T	9: 45,579,458 (GRCm39)	T335I	possibly damaging	Het
Epb41l2	G	T	10: 25,378,022 (GRCm39)	G695C	probably damaging	Het
Erbb4	C	T	1: 68,599,735 (GRCm39)	R114H	probably damaging	Het
F2rl1	G	T	13: 95,650,446 (GRCm39)	Y145*	probably null	Het
Fsip2	A	T	2: 82,810,785 (GRCm39)	Y2368F	possibly damaging	Het
Galnt7	C	T	8: 57,989,612 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,941,802 (GRCm39)	Y627*	probably null	Het
Gm6811	T	A	17: 21,314,245 (GRCm39)		noncoding transcript	Het
Gm6811	T	G	17: 21,314,952 (GRCm39)		noncoding transcript	Het
H2-M1	G	A	17: 36,982,602 (GRCm39)	T86M	possibly damaging	Het
Hk2	T	C	6: 82,720,347 (GRCm39)	D170G	probably benign	Het
Hmcn1	C	T	1: 150,614,432 (GRCm39)	A1325T	possibly damaging	Het
Insrr	T	A	3: 87,707,826 (GRCm39)	Y89*	probably null	Het
Itga1	T	C	13: 115,117,388 (GRCm39)	E871G	probably benign	Het
Kat6a	T	C	8: 23,429,421 (GRCm39)	L1592P	possibly damaging	Het
Kndc1	C	A	7: 139,500,979 (GRCm39)	A756E	probably benign	Het
Krt12	A	T	11: 99,312,728 (GRCm39)	C105*	probably null	Het
Lama1	G	A	17: 68,091,083 (GRCm39)		probably null	Het
Lama3	A	G	18: 12,640,006 (GRCm39)	N67S	probably benign	Het
Lrrk1	A	G	7: 65,956,587 (GRCm39)		probably null	Het
Lypd9	T	A	11: 58,337,192 (GRCm39)	I94L	possibly damaging	Het
Map2	T	C	1: 66,438,578 (GRCm39)	V34A	probably damaging	Het
Mroh6	A	G	15: 75,757,549 (GRCm39)	L487P	probably damaging	Het
Myo18b	A	T	5: 112,959,508 (GRCm39)	S1430T	probably benign	Het
Notch3	G	A	17: 32,373,723 (GRCm39)	T495I	probably benign	Het
Or1e31	A	T	11: 73,690,229 (GRCm39)	M118K	probably damaging	Het
Palld	C	T	8: 61,966,457 (GRCm39)	A980T	probably damaging	Het
Paxip1	A	T	5: 27,966,666 (GRCm39)	I620N	probably damaging	Het
Pcdha6	A	G	18: 37,102,820 (GRCm39)		probably null	Het
Pcdhb11	G	A	18: 37,554,813 (GRCm39)	V48M	probably benign	Het
Pcdhga6	A	G	18: 37,840,697 (GRCm39)	E139G	probably benign	Het
Pck1	T	C	2: 172,999,112 (GRCm39)	V426A	probably damaging	Het
Pck2	T	A	14: 55,780,081 (GRCm39)	I110N	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phactr3	G	A	2: 177,920,812 (GRCm39)	E222K	probably damaging	Het
Ppip5k1	A	T	2: 121,153,684 (GRCm39)		probably benign	Het
Rspry1	T	A	8: 95,349,886 (GRCm39)	H91Q	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Smn1	A	G	13: 100,264,503 (GRCm39)	N78S	possibly damaging	Het
Spta1	T	A	1: 174,046,078 (GRCm39)	I1614N	probably damaging	Het
Syt17	T	C	7: 118,033,513 (GRCm39)	D165G	probably damaging	Het
Tbck	A	G	3: 132,448,766 (GRCm39)	Y593C	probably damaging	Het
Tcaf2	G	C	6: 42,606,687 (GRCm39)	F422L	probably benign	Het
Tex15	T	A	8: 34,067,217 (GRCm39)	F2216I	possibly damaging	Het
Trpc4	A	G	3: 54,225,441 (GRCm39)	E846G	probably benign	Het
Ttc41	T	C	10: 86,580,313 (GRCm39)	I753T	probably benign	Het
Vdac1	C	T	11: 52,267,309 (GRCm39)	T70M	possibly damaging	Het
Vmn1r124	A	C	7: 20,994,104 (GRCm39)	F147V	probably benign	Het
Vmn1r220	T	C	13: 23,368,465 (GRCm39)	D77G	probably damaging	Het
Vmn2r28	T	C	7: 5,493,730 (GRCm39)	H72R	probably benign	Het
Vmn2r78	A	T	7: 86,570,318 (GRCm39)	I279L	probably benign	Het
Vmn2r95	G	T	17: 18,671,732 (GRCm39)	A490S	possibly damaging	Het
Wdfy4	C	T	14: 32,831,482 (GRCm39)	A915T	possibly damaging	Het
Zmiz2	G	T	11: 6,345,604 (GRCm39)		probably null	Het
Zscan2	A	G	7: 80,525,557 (GRCm39)	N426S	probably benign	Het

Other mutations in Prodh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Prodh2	APN	7	30,210,628 (GRCm39)	missense	probably damaging	1.00
IGL01949:Prodh2	APN	7	30,209,190 (GRCm39)	critical splice acceptor site	probably null
IGL02119:Prodh2	APN	7	30,205,929 (GRCm39)	missense	probably damaging	1.00
IGL02334:Prodh2	APN	7	30,205,803 (GRCm39)	missense	probably damaging	0.99
IGL03061:Prodh2	APN	7	30,212,258 (GRCm39)	nonsense	probably null
R0831:Prodh2	UTSW	7	30,193,649 (GRCm39)	nonsense	probably null
R0964:Prodh2	UTSW	7	30,205,706 (GRCm39)	missense	probably damaging	1.00
R1295:Prodh2	UTSW	7	30,193,514 (GRCm39)	missense	probably damaging	1.00
R4414:Prodh2	UTSW	7	30,205,877 (GRCm39)	missense	probably damaging	1.00
R5035:Prodh2	UTSW	7	30,205,904 (GRCm39)	missense	possibly damaging	0.49
R5461:Prodh2	UTSW	7	30,193,948 (GRCm39)	missense	possibly damaging	0.92
R5643:Prodh2	UTSW	7	30,206,171 (GRCm39)	missense	possibly damaging	0.65
R6876:Prodh2	UTSW	7	30,205,925 (GRCm39)	missense	probably damaging	1.00
R7860:Prodh2	UTSW	7	30,212,064 (GRCm39)	splice site	probably null
R7972:Prodh2	UTSW	7	30,210,580 (GRCm39)	missense	probably damaging	1.00
R8040:Prodh2	UTSW	7	30,205,836 (GRCm39)	missense	probably damaging	1.00
X0026:Prodh2	UTSW	7	30,193,200 (GRCm39)	missense	possibly damaging	0.83
Z1177:Prodh2	UTSW	7	30,193,415 (GRCm39)	missense	probably damaging	1.00
Z1186:Prodh2	UTSW	7	30,206,069 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TAACACATGGGCATCCTGGC -3'
(R):5'- CATGCTCACTGTGCACTCAC -3'

Sequencing Primer
(F):5'- GCTGCTGGTAGATGCTGAATATAC -3'
(R):5'- AAGATCAGTGTCTCAGCTGC -3'

Posted On

2018-03-15