Mutagenetix > Incidental Mutation

Incidental Mutation 'R5643:Prodh2'

440853

Institutional Source

Beutler Lab

Gene Symbol

Prodh2

Ensembl Gene

ENSMUSG00000036892

Gene Name

proline dehydrogenase (oxidase) 2

Synonyms

MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik

MMRRC Submission

043291-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30193047-30212827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30206171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 324 (T324A)

Ref Sequence

ENSEMBL: ENSMUSP00000062214 (fasta)

Gene Model

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

AlphaFold

Q8VCZ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058280
AA Change: T324A

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: T324A

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

SMART Domains

Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892

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

SMART Domains

Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892

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

0.0725

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

94% (110/117)

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,988,021 (GRCm39)	K3102E	possibly damaging	Het
Akap13	T	C	7: 75,351,902 (GRCm39)		probably null	Het
Akp3	A	T	1: 87,055,485 (GRCm39)	T511S	unknown	Het
Alkal2	T	A	12: 30,934,889 (GRCm39)	L36Q	probably damaging	Het
Arhgef17	A	T	7: 100,529,218 (GRCm39)	V523E	probably damaging	Het
Asah1	G	T	8: 41,813,332 (GRCm39)	T27K	possibly damaging	Het
Bag2	A	G	1: 33,786,034 (GRCm39)	V96A	probably damaging	Het
Bicd1	C	T	6: 149,421,901 (GRCm39)	A874V	probably damaging	Het
C4b	T	C	17: 34,961,391 (GRCm39)	I189M	probably benign	Het
Calcr	A	G	6: 3,708,538 (GRCm39)	I216T	probably damaging	Het
Cdk5rap2	T	A	4: 70,184,970 (GRCm39)	D1160V	probably damaging	Het
Cep128	A	T	12: 91,315,625 (GRCm39)	I87K	probably damaging	Het
Cep170b	C	G	12: 112,707,275 (GRCm39)	H1256Q	probably benign	Het
Chd2	A	T	7: 73,134,232 (GRCm39)	V705E	probably damaging	Het
Clec12b	T	A	6: 129,356,923 (GRCm39)	I172L	probably benign	Het
Cobl	A	T	11: 12,256,948 (GRCm39)		probably benign	Het
Col5a2	T	A	1: 45,429,202 (GRCm39)	D972V	probably damaging	Het
Csrp1	A	T	1: 135,678,797 (GRCm39)	N174I	probably damaging	Het
Dnah7a	T	A	1: 53,444,866 (GRCm39)	H3946L	probably benign	Het
Dnajc21	A	T	15: 10,462,001 (GRCm39)	D133E	probably benign	Het
Dvl3	T	A	16: 20,345,026 (GRCm39)	I353N	probably damaging	Het
Elavl3	A	T	9: 21,930,029 (GRCm39)	S292T	probably benign	Het
Ephb2	T	C	4: 136,498,923 (GRCm39)	N52S	probably damaging	Het
Gaa	T	A	11: 119,171,361 (GRCm39)	M671K	possibly damaging	Het
Gabrg3	T	C	7: 56,423,032 (GRCm39)	D222G	possibly damaging	Het
Gk5	C	T	9: 96,022,709 (GRCm39)	Q182*	probably null	Het
Gm14403	A	T	2: 177,199,054 (GRCm39)	H50L	possibly damaging	Het
Gzma	T	C	13: 113,234,794 (GRCm39)	T66A	probably damaging	Het
Hint2	T	C	4: 43,656,445 (GRCm39)		probably benign	Het
Hnmt	A	T	2: 23,904,251 (GRCm39)	W137R	probably damaging	Het
Hoga1	T	C	19: 42,048,402 (GRCm39)	V90A	probably benign	Het
Idua	A	T	5: 108,828,090 (GRCm39)		probably benign	Het
Kif1a	A	C	1: 92,983,489 (GRCm39)	S669R	probably damaging	Het
Klhdc7b	A	T	15: 89,271,862 (GRCm39)	M915L	possibly damaging	Het
Klhl41	A	G	2: 69,500,815 (GRCm39)	Y92C	probably damaging	Het
Klrc2	A	T	6: 129,633,420 (GRCm39)	C186S	probably damaging	Het
Lmo7	A	G	14: 102,166,772 (GRCm39)		probably benign	Het
Lrriq1	T	C	10: 103,051,301 (GRCm39)	M484V	probably benign	Het
Lzts1	A	G	8: 69,591,729 (GRCm39)	S140P	possibly damaging	Het
Mgat5b	T	A	11: 116,864,226 (GRCm39)	V464E	probably damaging	Het
Mms19	A	T	19: 41,944,305 (GRCm39)	D298E	possibly damaging	Het
Muc5ac	T	C	7: 141,347,452 (GRCm39)		probably null	Het
Mycbp2	T	A	14: 103,524,770 (GRCm39)	K597I	probably damaging	Het
Myo18a	C	A	11: 77,745,513 (GRCm39)	D1619E	probably benign	Het
Nfx1	T	C	4: 40,984,973 (GRCm39)	W366R	probably null	Het
Nipbl	C	T	15: 8,388,391 (GRCm39)	V410I	probably benign	Het
Or14j10	T	A	17: 37,935,323 (GRCm39)	I68F	probably benign	Het
Or4c101	T	A	2: 88,389,849 (GRCm39)	M1K	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52h1	T	C	7: 103,829,091 (GRCm39)	I175V	probably benign	Het
Or5b95	A	T	19: 12,658,336 (GRCm39)	Y288F	probably damaging	Het
Or7g32	A	T	9: 19,388,853 (GRCm39)	M231K	probably benign	Het
Or8u10	T	C	2: 85,915,503 (GRCm39)	N206S	probably damaging	Het
Otog	A	T	7: 45,936,871 (GRCm39)	T1527S	probably damaging	Het
P2ry12	A	T	3: 59,125,516 (GRCm39)	M53K	possibly damaging	Het
Pask	A	G	1: 93,265,065 (GRCm39)		probably null	Het
Pcca	G	A	14: 123,124,481 (GRCm39)	C684Y	probably damaging	Het
Pcdhb10	A	G	18: 37,546,219 (GRCm39)	T432A	possibly damaging	Het
Peak1	T	C	9: 56,166,039 (GRCm39)	N630D	probably damaging	Het
Plbd2	A	T	5: 120,631,231 (GRCm39)		probably null	Het
Plekhg5	T	C	4: 152,188,797 (GRCm39)	V200A	probably benign	Het
Pola2	A	G	19: 6,011,198 (GRCm39)	V42A	probably benign	Het
Ppfibp2	T	A	7: 107,337,097 (GRCm39)	W572R	probably damaging	Het
Ppp6r1	C	T	7: 4,636,771 (GRCm39)	E679K	probably benign	Het
Pramel11	A	T	4: 143,622,337 (GRCm39)	H339Q	probably damaging	Het
Prdx3	G	A	19: 60,859,963 (GRCm39)	A70V	probably damaging	Het
Prkd2	T	C	7: 16,577,717 (GRCm39)	F57L	probably benign	Het
Ptdss1	T	C	13: 67,120,604 (GRCm39)	F267L	probably damaging	Het
Rai14	T	A	15: 10,593,137 (GRCm39)	H169L	probably benign	Het
Rere	A	G	4: 150,701,700 (GRCm39)	H1360R	probably damaging	Het
Rfc3	C	T	5: 151,573,444 (GRCm39)	V40I	probably benign	Het
Rims1	T	A	1: 22,577,590 (GRCm39)	T219S	probably damaging	Het
Rnf169	T	C	7: 99,576,338 (GRCm39)	R289G	possibly damaging	Het
Senp7	T	C	16: 56,004,512 (GRCm39)		silent	Het
Sfmbt2	A	T	2: 10,573,184 (GRCm39)	I571F	probably damaging	Het
Slc11a2	C	A	15: 100,301,068 (GRCm39)	K328N	probably benign	Het
Slc25a10	A	G	11: 120,387,202 (GRCm39)		probably benign	Het
Slc38a8	T	C	8: 120,207,488 (GRCm39)	*433W	probably null	Het
Slco1a5	A	C	6: 142,183,320 (GRCm39)		probably null	Het
Smc6	T	A	12: 11,339,995 (GRCm39)	N434K	probably benign	Het
Syndig1	A	T	2: 149,741,428 (GRCm39)	I5F	possibly damaging	Het
Syt5	T	C	7: 4,546,018 (GRCm39)	Q124R	probably benign	Het
Taok3	A	C	5: 117,344,785 (GRCm39)	M171L	probably benign	Het
Tbrg1	T	C	9: 37,560,709 (GRCm39)	D389G	probably benign	Het
Tcaf2	G	A	6: 42,619,707 (GRCm39)	R107C	possibly damaging	Het
Tex14	C	A	11: 87,426,452 (GRCm39)	H1159Q	probably damaging	Het
Tmprss11d	T	A	5: 86,474,388 (GRCm39)	M190L	probably benign	Het
Ttn	T	A	2: 76,768,867 (GRCm39)	T2856S	probably damaging	Het
Ubr4	T	A	4: 139,171,998 (GRCm39)	M2997K	probably damaging	Het
Unc5c	C	T	3: 141,383,886 (GRCm39)	A88V	probably damaging	Het
Use1	T	C	8: 71,820,398 (GRCm39)		probably benign	Het
Vmn1r43	T	C	6: 89,847,354 (GRCm39)	N44S	probably damaging	Het
Vmn1r89	T	A	7: 12,954,146 (GRCm39)	V294D	possibly damaging	Het
Vmn2r11	A	T	5: 109,194,869 (GRCm39)	V819E	probably damaging	Het
Vmn2r120	T	A	17: 57,831,977 (GRCm39)	M271L	probably benign	Het
Vmn2r52	T	C	7: 9,905,059 (GRCm39)	Y260C	probably damaging	Het
Vmn2r67	T	A	7: 84,799,151 (GRCm39)	R519*	probably null	Het
Vmn2r69	T	A	7: 85,056,404 (GRCm39)	D578V	probably damaging	Het
Vmn2r85	T	C	10: 130,262,343 (GRCm39)	Y132C	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp318	T	A	17: 46,720,170 (GRCm39)		probably benign	Het
Zfp810	A	T	9: 22,194,467 (GRCm39)	S74T	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
R6276:Prodh2	UTSW	7	30,206,076 (GRCm39)	missense	probably benign	0.07
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'- ATCTAAAGGTAAGTGGCAGGCTC -3'
(R):5'- ATGCTCACTGTGCACTCAC -3'

Sequencing Primer
(F):5'- GTGGGAACTCAGCAACCTGAC -3'
(R):5'- GGCAGAGGTCAATCTCCCTATC -3'

Posted On

2016-11-08