Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01646:Pnpo'

102669

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pnpo

Ensembl Gene

ENSMUSG00000018659

Gene Name

pyridoxine 5'-phosphate oxidase

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.324) question?

Stock #

IGL01646

Quality Score

Status

Chromosome

Chromosomal Location

96828651-96834812 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96829775 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 251 (E251V)

Ref Sequence

ENSEMBL: ENSMUSP00000018803 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018803] [ENSMUST00000054311] [ENSMUST00000062172] [ENSMUST00000107629] [ENSMUST00000107633] [ENSMUST00000107636]

AlphaFold

Q91XF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018803
AA Change: E251V

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659
AA Change: E251V

Domain	Start	End	E-Value	Type
Pfam:Pyridox_oxase_2	59	149	3.9e-8	PFAM
Pfam:Pyridox_oxidase	60	153	2.4e-27	PFAM
Pfam:PNPOx_C	206	261	2.8e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000054311

SMART Domains

Protein: ENSMUSP00000056614
Gene: ENSMUSG00000047040

Domain	Start	End	E-Value	Type
Pfam:ATAD4	6	88	3.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000062172

SMART Domains

Protein: ENSMUSP00000056647
Gene: ENSMUSG00000047040

Domain	Start	End	E-Value	Type
Pfam:ATAD4	6	87	1.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107629

SMART Domains

Protein: ENSMUSP00000103255
Gene: ENSMUSG00000018659

Domain	Start	End	E-Value	Type
PDB:1NRG\|A	1	92	2e-49	PDB
SCOP:d1dnla_	57	86	3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107633

SMART Domains

Protein: ENSMUSP00000103259
Gene: ENSMUSG00000047040

Domain	Start	End	E-Value	Type
Pfam:ATAD4	6	88	3.7e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107636

SMART Domains

Protein: ENSMUSP00000103262
Gene: ENSMUSG00000047040

Domain	Start	End	E-Value	Type
Pfam:ATAD4	6	88	3.7e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153896

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the terminal, rate-limiting step in the synthesis of pyridoxal 5'-phosphate, also known as vitamin B6. Vitamin B6 is a required co-factor for enzymes involved in both homocysteine metabolism and synthesis of neurotransmitters such as catecholamine. Mutations in this gene result in pyridoxamine 5'-phosphate oxidase (PNPO) deficiency, a form of neonatal epileptic encephalopathy. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambp	C	T	4: 63,066,977 (GRCm39)	V188I	probably benign	Het
Bbs9	G	T	9: 22,582,221 (GRCm39)	E638*	probably null	Het
Bmp6	A	G	13: 38,682,904 (GRCm39)	M465V	probably damaging	Het
Ccdc192	T	A	18: 57,800,417 (GRCm39)	C171*	probably null	Het
Cemip	T	C	7: 83,632,440 (GRCm39)	E374G	possibly damaging	Het
Cnbd1	A	T	4: 18,895,141 (GRCm39)	Y200*	probably null	Het
Cox6b1	G	T	7: 30,323,929 (GRCm39)	Y34*	probably null	Het
Cyp2d26	A	C	15: 82,675,619 (GRCm39)	I303M	probably benign	Het
Diaph1	T	A	18: 38,026,469 (GRCm39)		probably null	Het
Dmp1	T	C	5: 104,359,731 (GRCm39)	S136P	probably damaging	Het
Dpy19l1	C	T	9: 24,396,365 (GRCm39)	R117Q	probably damaging	Het
Eea1	A	G	10: 95,832,877 (GRCm39)	T241A	probably damaging	Het
Erap1	C	A	13: 74,814,291 (GRCm39)	T25K	probably damaging	Het
Fras1	A	G	5: 96,906,007 (GRCm39)	E3137G	probably benign	Het
Fryl	C	T	5: 73,179,844 (GRCm39)		probably null	Het
Gldc	T	G	19: 30,078,165 (GRCm39)	D944A	possibly damaging	Het
Grm5	A	G	7: 87,689,267 (GRCm39)	Y546C	probably damaging	Het
Igkv1-122	G	A	6: 67,993,728 (GRCm39)	M1I	probably null	Het
Jag2	G	A	12: 112,879,969 (GRCm39)	P380S	possibly damaging	Het
Kcnc2	T	C	10: 112,108,311 (GRCm39)		probably null	Het
Kmt2a	T	C	9: 44,736,781 (GRCm39)		probably benign	Het
Lrrc55	A	G	2: 85,022,333 (GRCm39)	V286A	probably damaging	Het
Mllt10	C	A	2: 18,127,128 (GRCm39)	H82N	probably damaging	Het
Myh11	C	A	16: 14,039,639 (GRCm39)	R837L	probably damaging	Het
Nsg1	C	A	5: 38,313,035 (GRCm39)	D55Y	probably damaging	Het
Nup107	C	A	10: 117,617,247 (GRCm39)	R221M	probably damaging	Het
Nup153	G	T	13: 46,837,583 (GRCm39)	A1213D	possibly damaging	Het
Ovgp1	G	A	3: 105,885,665 (GRCm39)	G174S	probably damaging	Het
Papss2	C	T	19: 32,629,482 (GRCm39)	A357V	probably benign	Het
Pclo	A	G	5: 14,763,881 (GRCm39)	K4118R	unknown	Het
Pde2a	T	C	7: 101,156,918 (GRCm39)	I628T	possibly damaging	Het
Pla2r1	A	G	2: 60,325,708 (GRCm39)	W521R	probably damaging	Het
Pld1	A	T	3: 28,153,813 (GRCm39)	Q744L	probably damaging	Het
Rdh10	C	T	1: 16,178,246 (GRCm39)	H173Y	possibly damaging	Het
Sgpp2	A	T	1: 78,393,533 (GRCm39)	I179F	probably damaging	Het
Slc11a1	C	T	1: 74,423,899 (GRCm39)	P409L	probably damaging	Het
Slc35b4	T	A	6: 34,135,364 (GRCm39)	N316I	probably benign	Het
Snrnp200	A	G	2: 127,064,148 (GRCm39)	I712V	probably benign	Het
Spr	T	C	6: 85,111,222 (GRCm39)	D216G	possibly damaging	Het
Sri	G	A	5: 8,113,755 (GRCm39)		probably null	Het
Tas2r124	T	C	6: 132,732,332 (GRCm39)	S214P	probably damaging	Het
Tg	T	A	15: 66,549,936 (GRCm39)	S233T	probably damaging	Het
Tgfbr3	A	T	5: 107,269,279 (GRCm39)		probably benign	Het
Vmn2r45	A	G	7: 8,486,337 (GRCm39)	F317S	probably benign	Het
Vmn2r99	C	A	17: 19,613,920 (GRCm39)		probably benign	Het
Zfp957	T	C	14: 79,451,331 (GRCm39)	E156G	probably benign	Het

Other mutations in Pnpo

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00970:Pnpo	APN	11	96,834,618 (GRCm39)	missense	possibly damaging	0.90
IGL01654:Pnpo	APN	11	96,834,555 (GRCm39)	critical splice donor site	probably null
IGL02081:Pnpo	APN	11	96,830,150 (GRCm39)	missense	probably damaging	0.99
IGL03153:Pnpo	APN	11	96,834,661 (GRCm39)	missense	probably damaging	1.00
IGL03179:Pnpo	APN	11	96,830,085 (GRCm39)	missense	possibly damaging	0.79
R0398:Pnpo	UTSW	11	96,833,253 (GRCm39)	nonsense	probably null
R3917:Pnpo	UTSW	11	96,830,583 (GRCm39)	missense	probably damaging	1.00
R4418:Pnpo	UTSW	11	96,831,795 (GRCm39)	splice site	probably null
R5214:Pnpo	UTSW	11	96,833,295 (GRCm39)	missense	probably benign	0.07
R5427:Pnpo	UTSW	11	96,834,633 (GRCm39)	missense	probably benign	0.02
R9584:Pnpo	UTSW	11	96,831,705 (GRCm39)	nonsense	probably null
X0052:Pnpo	UTSW	11	96,834,634 (GRCm39)	missense	possibly damaging	0.71

Posted On

2014-01-21