Incidental Mutation 'IGL01654:Pnpo'
| ID |
102931 |
| 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)
|
| Stock # |
IGL01654
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96828651-96834812 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 96834555 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018803]
[ENSMUST00000107629]
|
| AlphaFold |
Q91XF0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000018803
|
| SMART Domains |
Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659
| 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 |
noncoding transcript
Transcript: ENSMUST00000107628
|
| Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000131501
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153896
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186326
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,854,838 (GRCm39) |
E68V |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,765,065 (GRCm39) |
|
probably null |
Het |
| Abcg2 |
T |
A |
6: 58,660,306 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,762,061 (GRCm39) |
I1252T |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,996 (GRCm39) |
D19E |
probably benign |
Het |
| Bbs9 |
T |
A |
9: 22,402,238 (GRCm39) |
|
probably null |
Het |
| Bod1l |
T |
C |
5: 41,975,519 (GRCm39) |
T1932A |
probably damaging |
Het |
| C2cd5 |
A |
G |
6: 143,027,133 (GRCm39) |
V124A |
probably benign |
Het |
| Cd151 |
T |
A |
7: 141,050,275 (GRCm39) |
I170N |
probably benign |
Het |
| Ckap5 |
C |
T |
2: 91,407,954 (GRCm39) |
H827Y |
probably benign |
Het |
| Clk3 |
C |
T |
9: 57,659,046 (GRCm39) |
V572M |
probably damaging |
Het |
| Ddrgk1 |
T |
C |
2: 130,496,629 (GRCm39) |
D245G |
probably damaging |
Het |
| Enpp5 |
A |
G |
17: 44,392,066 (GRCm39) |
D165G |
possibly damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Fbxw14 |
T |
C |
9: 109,115,648 (GRCm39) |
|
probably benign |
Het |
| Fes |
C |
T |
7: 80,036,558 (GRCm39) |
|
probably null |
Het |
| Gemin4 |
A |
T |
11: 76,104,224 (GRCm39) |
L179H |
probably damaging |
Het |
| Gm3327 |
A |
G |
14: 44,362,317 (GRCm39) |
E72G |
unknown |
Het |
| Gm4847 |
C |
T |
1: 166,465,917 (GRCm39) |
R224Q |
probably damaging |
Het |
| Lonp2 |
T |
C |
8: 87,440,714 (GRCm39) |
V357A |
probably damaging |
Het |
| Mc2r |
A |
G |
18: 68,541,143 (GRCm39) |
I50T |
probably benign |
Het |
| Mmp19 |
C |
T |
10: 128,634,389 (GRCm39) |
A310V |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,435,853 (GRCm39) |
R890Q |
probably benign |
Het |
| Npdc1 |
T |
C |
2: 25,297,649 (GRCm39) |
S101P |
possibly damaging |
Het |
| Phldb1 |
T |
C |
9: 44,629,654 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,662 (GRCm39) |
N460S |
probably damaging |
Het |
| Prkcq |
A |
T |
2: 11,288,654 (GRCm39) |
T536S |
probably damaging |
Het |
| Rft1 |
T |
A |
14: 30,398,837 (GRCm39) |
V269E |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,977,254 (GRCm39) |
I215F |
probably damaging |
Het |
| Slc12a5 |
G |
A |
2: 164,815,675 (GRCm39) |
D41N |
possibly damaging |
Het |
| Srp68 |
T |
C |
11: 116,138,638 (GRCm39) |
|
probably benign |
Het |
| Wdr17 |
T |
C |
8: 55,115,914 (GRCm39) |
T623A |
probably damaging |
Het |
| Zfand2a |
A |
G |
5: 139,467,823 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,783,796 (GRCm39) |
Y917C |
probably damaging |
Het |
| Zmym6 |
C |
T |
4: 127,017,519 (GRCm39) |
S1008L |
probably damaging |
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 |
|
IGL01646:Pnpo
|
APN |
11 |
96,829,775 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
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 |
Incidental Mutation