Mutagenetix > Incidental Mutation

Incidental Mutation 'R0964:Prodh2'

81474

Institutional Source

Beutler Lab

Gene Symbol

Prodh2

Ensembl Gene

ENSMUSG00000036892

Gene Name

proline dehydrogenase (oxidase) 2

Synonyms

MmPOX1, POX1, 2510038B11Rik, 2510028N04Rik

MMRRC Submission

039093-MU

Accession Numbers

Essential gene?

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

Stock #

R0964 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30193047-30212827 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30205706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 218 (R218S)

Ref Sequence

ENSEMBL: ENSMUSP00000122546 (fasta)

Gene Model

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

AlphaFold

Q8VCZ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000058280
AA Change: R220S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000062214
Gene: ENSMUSG00000036892
AA Change: R220S

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 damaging
Transcript: ENSMUST00000131040
AA Change: R159S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116662
Gene: ENSMUSG00000036892
AA Change: R159S

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 damaging
Transcript: ENSMUST00000133318
AA Change: R218S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122546
Gene: ENSMUSG00000036892
AA Change: R218S

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 damaging
Transcript: ENSMUST00000142575
AA Change: R206S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114778
Gene: ENSMUSG00000036892
AA Change: R206S

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

0.4792

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 94.0%

Validation Efficiency

98% (55/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Acacb	A	T	5: 114,367,813 (GRCm39)	M1604L	possibly damaging	Het
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgrl1	T	C	8: 84,661,041 (GRCm39)		probably benign	Het
Alppl2	C	T	1: 87,015,446 (GRCm39)	V372I	possibly damaging	Het
Apol8	C	T	15: 77,633,811 (GRCm39)	S255N	probably benign	Het
Atp8b4	A	T	2: 126,179,413 (GRCm39)	F973I	probably damaging	Het
Bbs4	A	G	9: 59,230,259 (GRCm39)	*150Q	probably null	Het
Bltp3a	A	T	17: 28,106,152 (GRCm39)	T893S	probably damaging	Het
Cacna1h	A	T	17: 25,597,749 (GRCm39)		probably benign	Het
Ccn1	C	A	3: 145,353,503 (GRCm39)	C353F	probably damaging	Het
Ccser2	C	T	14: 36,630,965 (GRCm39)		probably benign	Het
Chd9	A	G	8: 91,741,832 (GRCm39)	E1607G	probably benign	Het
Clca4b	A	G	3: 144,621,337 (GRCm39)	I579T	probably benign	Het
Col20a1	T	A	2: 180,626,278 (GRCm39)		probably benign	Het
Creg2	T	C	1: 39,664,144 (GRCm39)	I205V	probably benign	Het
Ddx24	C	T	12: 103,390,166 (GRCm39)	R275H	probably damaging	Het
Dip2c	G	A	13: 9,618,699 (GRCm39)	A579T	probably benign	Het
Dnah3	T	C	7: 119,551,962 (GRCm39)		probably benign	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Gckr	T	C	5: 31,484,259 (GRCm39)		probably benign	Het
Gpbp1l1	A	G	4: 116,438,436 (GRCm39)		probably benign	Het
Hmcn2	A	G	2: 31,281,523 (GRCm39)	T1913A	probably benign	Het
Lmo7	T	C	14: 102,158,003 (GRCm39)		probably benign	Het
Meioc	G	A	11: 102,570,857 (GRCm39)	V863I	probably damaging	Het
Myh1	A	G	11: 67,112,430 (GRCm39)	D1799G	probably damaging	Het
Myh1	A	G	11: 67,096,751 (GRCm39)	I341V	probably benign	Het
Myh13	A	G	11: 67,235,828 (GRCm39)	T664A	probably benign	Het
Myo3b	A	C	2: 70,257,193 (GRCm39)	D1269A	probably damaging	Het
Nckap1	A	G	2: 80,378,243 (GRCm39)		probably null	Het
Nr3c2	A	G	8: 77,635,297 (GRCm39)		probably null	Het
Nxpe5	T	C	5: 138,238,186 (GRCm39)	S249P	probably damaging	Het
Or52z1	C	T	7: 103,436,604 (GRCm39)	M293I	probably benign	Het
Or8k16	A	G	2: 85,520,709 (GRCm39)	N312S	probably benign	Het
Or9a4	T	C	6: 40,549,139 (GRCm39)	V273A	probably benign	Het
Pitpnm3	G	A	11: 71,949,296 (GRCm39)	T675I	probably damaging	Het
Plekhm1	C	A	11: 103,285,908 (GRCm39)	E176*	probably null	Het
Prdm11	C	A	2: 92,819,567 (GRCm39)		probably benign	Het
Rps15a	T	C	7: 117,714,060 (GRCm39)	D54G	probably benign	Het
Sbno2	G	T	10: 79,920,093 (GRCm39)	T46N	possibly damaging	Het
Sdk2	A	G	11: 113,697,243 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,926,907 (GRCm39)	F567L	probably damaging	Het
Slc36a1	A	G	11: 55,116,780 (GRCm39)		probably benign	Het
Spaca6	A	T	17: 18,058,653 (GRCm39)	E284V	possibly damaging	Het
Srsf3	C	A	17: 29,255,412 (GRCm39)	L66I	probably damaging	Het
Srsf3	T	A	17: 29,255,413 (GRCm39)	L66Q	probably damaging	Het
Syne1	T	C	10: 4,993,652 (GRCm39)	T8363A	possibly damaging	Het
Trmt1	T	A	8: 85,423,481 (GRCm39)	L298Q	probably damaging	Het
Uba6	T	C	5: 86,267,260 (GRCm39)	I923V	possibly damaging	Het
Vmn2r106	G	A	17: 20,487,859 (GRCm39)	H847Y	probably benign	Het
Vmn2r15	T	C	5: 109,445,401 (GRCm39)	T8A	probably benign	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb41	T	G	1: 139,366,769 (GRCm39)	F583V	probably damaging	Het
Zfp938	T	A	10: 82,061,253 (GRCm39)	I456F	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
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

Predicted Primers

PCR Primer
(F):5'- CTCAGCCTCCCAAATTGTGAGACTG -3'
(R):5'- TGCAGAGCACATGGACAGACTCAG -3'

Sequencing Primer
(F):5'- TGGCATCCTGTCCTGCAAG -3'
(R):5'- AGGTTGCTGAGTTCCCAC -3'

Posted On

2013-11-07