Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03061:Prodh2'

409465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prodh2

Ensembl Gene

ENSMUSG00000036892

Gene Name

proline dehydrogenase (oxidase) 2

Synonyms

MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik

Accession Numbers

Essential gene?

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

Stock #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

30193047-30212827 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 30212258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 408 (K408*)

Ref Sequence

ENSEMBL: ENSMUSP00000062214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058280]

AlphaFold

Q8VCZ9

Predicted Effect

probably null
Transcript: ENSMUST00000058280
AA Change: K408*

SMART Domains

Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: K408*

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

silent
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

noncoding transcript
Transcript: ENSMUST00000124276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142514

Coding Region Coverage

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 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,961,374 (GRCm39)	N106K	probably damaging	Het
Ak8	T	C	2: 28,632,767 (GRCm39)		probably benign	Het
BC016579	C	T	16: 45,449,849 (GRCm39)	G190S	probably damaging	Het
C4bp	A	G	1: 130,564,454 (GRCm39)	V410A	probably damaging	Het
Cacna2d3	T	C	14: 28,780,388 (GRCm39)	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,659 (GRCm39)		probably null	Het
Car10	G	T	11: 93,381,351 (GRCm39)	V105F	probably damaging	Het
Car15	C	T	16: 17,653,249 (GRCm39)	C306Y	possibly damaging	Het
Casr	C	T	16: 36,316,250 (GRCm39)	A530T	probably benign	Het
Col5a3	A	G	9: 20,708,868 (GRCm39)		probably null	Het
Creld1	A	G	6: 113,465,058 (GRCm39)	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,623,793 (GRCm39)	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,866,856 (GRCm39)	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 140,937,148 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,172,471 (GRCm39)		probably benign	Het
Ifi27l2a	T	C	12: 103,401,803 (GRCm39)	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,597,124 (GRCm39)	R164Q	probably benign	Het
Impg2	T	C	16: 56,088,779 (GRCm39)	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323 (GRCm39)	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,869,455 (GRCm39)	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,476,510 (GRCm39)	T157I	probably benign	Het
Lrrc32	A	T	7: 98,148,629 (GRCm39)	T470S	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mroh9	A	T	1: 162,854,071 (GRCm39)	H776Q	probably damaging	Het
Myh7	T	C	14: 55,228,661 (GRCm39)		probably benign	Het
Myh7b	A	G	2: 155,462,031 (GRCm39)	N309S	possibly damaging	Het
Myo5b	A	T	18: 74,767,630 (GRCm39)	T313S	probably benign	Het
Myo5b	G	A	18: 74,713,615 (GRCm39)		probably benign	Het
Npas4	C	T	19: 5,036,365 (GRCm39)	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,478,698 (GRCm39)	Y557*	probably null	Het
Or2aj4	T	C	16: 19,385,463 (GRCm39)	T57A	possibly damaging	Het
Or52k2	A	G	7: 102,253,946 (GRCm39)	I128M	probably damaging	Het
Or8g53	T	A	9: 39,683,458 (GRCm39)	T213S	probably benign	Het
Pcdh15	A	G	10: 74,152,843 (GRCm39)	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,128,816 (GRCm39)	D617Y	probably damaging	Het
Ptprs	T	C	17: 56,725,830 (GRCm39)	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,401,193 (GRCm39)	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,125,493 (GRCm39)	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,741,962 (GRCm39)	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,284,980 (GRCm39)	I323F	probably damaging	Het
Snx19	T	A	9: 30,344,928 (GRCm39)	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tg	A	C	15: 66,543,254 (GRCm39)	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694 (GRCm39)	A928E	probably damaging	Het
Tmem94	T	C	11: 115,683,247 (GRCm39)	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,572,721 (GRCm39)	H698N	possibly damaging	Het
Vcan	T	C	13: 89,851,394 (GRCm39)	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,260,088 (GRCm39)	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,487,015 (GRCm39)	N549K	probably damaging	Het
Zfp598	T	C	17: 24,898,566 (GRCm39)	V455A	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
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
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

Posted On

2016-08-02