Incidental Mutation 'IGL02081:Pnpo'
| ID |
283382 |
| 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: 0.335)
|
| Stock # |
IGL02081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
96828651-96834812 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96830150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 183
(Y183C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018803]
[ENSMUST00000054311]
[ENSMUST00000062172]
[ENSMUST00000107629]
[ENSMUST00000107633]
[ENSMUST00000107636]
|
| AlphaFold |
Q91XF0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018803
AA Change: Y183C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000018803
Gene: ENSMUSG00000018659
AA Change: Y183C
| 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 |
noncoding transcript
Transcript: ENSMUST00000107628
|
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
G |
T |
8: 44,023,233 (GRCm39) |
L86I |
probably damaging |
Het |
| Adamts17 |
C |
T |
7: 66,711,858 (GRCm39) |
R726C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,171 (GRCm39) |
K778R |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,045,655 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,597,285 (GRCm39) |
C1173S |
possibly damaging |
Het |
| Apol7b |
A |
G |
15: 77,307,736 (GRCm39) |
L253P |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,604 (GRCm39) |
T1268S |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,765,258 (GRCm39) |
K1149N |
probably damaging |
Het |
| Bri3bp |
G |
A |
5: 125,518,961 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Cyp4a10 |
G |
A |
4: 115,378,369 (GRCm39) |
A152T |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,204,355 (GRCm39) |
D1396N |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,936,842 (GRCm39) |
Y634* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,723,930 (GRCm39) |
K529E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,684 (GRCm39) |
D58G |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,239,332 (GRCm39) |
D776G |
possibly damaging |
Het |
| Il18r1 |
A |
T |
1: 40,537,665 (GRCm39) |
S477C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,523,281 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,305 (GRCm39) |
F242V |
probably benign |
Het |
| Krtap4-1 |
G |
A |
11: 99,519,010 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,418 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,254,106 (GRCm39) |
T1009A |
probably damaging |
Het |
| Mrpl22 |
T |
C |
11: 58,062,647 (GRCm39) |
I19T |
probably benign |
Het |
| Nup88 |
A |
G |
11: 70,845,480 (GRCm39) |
|
probably benign |
Het |
| Or5b94 |
A |
T |
19: 12,652,180 (GRCm39) |
I204F |
probably benign |
Het |
| Poln |
C |
T |
5: 34,286,483 (GRCm39) |
M228I |
probably benign |
Het |
| Scara5 |
T |
C |
14: 65,968,104 (GRCm39) |
W126R |
possibly damaging |
Het |
| Scmh1 |
T |
G |
4: 120,372,275 (GRCm39) |
C359W |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,194 (GRCm39) |
I41V |
possibly damaging |
Het |
| St8sia1 |
T |
C |
6: 142,774,953 (GRCm39) |
M209V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,495,391 (GRCm39) |
S89T |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,649,597 (GRCm39) |
T1667A |
probably damaging |
Het |
| Tmem217 |
C |
T |
17: 29,745,347 (GRCm39) |
G128S |
probably damaging |
Het |
| Ttpal |
A |
G |
2: 163,457,308 (GRCm39) |
N260S |
probably benign |
Het |
| Vwa2 |
A |
G |
19: 56,890,668 (GRCm39) |
D233G |
probably benign |
Het |
| Wdr83 |
A |
G |
8: 85,802,472 (GRCm39) |
F258L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,795 (GRCm39) |
L354* |
probably null |
Het |
| Zfp516 |
A |
G |
18: 82,973,858 (GRCm39) |
R19G |
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 |
|
IGL01646:Pnpo
|
APN |
11 |
96,829,775 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01654:Pnpo
|
APN |
11 |
96,834,555 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2015-04-16 |
Incidental Mutation