Incidental Mutation 'IGL03148:Pnp'
ID |
410990 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pnp
|
Ensembl Gene |
ENSMUSG00000115338 |
Gene Name |
purine-nucleoside phosphorylase |
Synonyms |
Np, Np-2, Pnp1, Np-1, Pnp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL03148
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
51181760-51190869 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 51188185 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000154171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048615]
[ENSMUST00000178092]
[ENSMUST00000226871]
[ENSMUST00000227052]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048615
|
SMART Domains |
Protein: ENSMUSP00000043926 Gene: ENSMUSG00000115338
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
26 |
280 |
5.2e-56 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178092
|
SMART Domains |
Protein: ENSMUSP00000136557 Gene: ENSMUSG00000115338
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
26 |
280 |
2e-54 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194838
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226871
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227052
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228631
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228712
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Nullizygous mice show impaired thymocyte differentiation, T cell function and mitochondrial DNA repair, altered lymphocyte subpopulations and metabolism, and enhanced thymocyte apoptosis and sensitivity to gamma-irradiation. ENU-induced mutants show a gradual decline in T cell number and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300003K06Rik |
A |
G |
11: 99,728,079 (GRCm39) |
S255P |
unknown |
Het |
Adamtsl2 |
T |
A |
2: 26,974,071 (GRCm39) |
Y125N |
probably damaging |
Het |
Ankrd9 |
T |
C |
12: 110,943,293 (GRCm39) |
E214G |
probably benign |
Het |
Bhmt2 |
T |
A |
13: 93,803,161 (GRCm39) |
D124V |
possibly damaging |
Het |
Ccdc150 |
A |
G |
1: 54,317,874 (GRCm39) |
H271R |
possibly damaging |
Het |
Clcn1 |
T |
G |
6: 42,276,925 (GRCm39) |
|
probably null |
Het |
Col6a3 |
T |
A |
1: 90,755,588 (GRCm39) |
I234F |
probably benign |
Het |
Cpa5 |
T |
A |
6: 30,630,436 (GRCm39) |
M330K |
probably damaging |
Het |
Csmd2 |
G |
A |
4: 128,278,062 (GRCm39) |
C995Y |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,059,144 (GRCm39) |
E252G |
probably damaging |
Het |
Dhrs1 |
A |
T |
14: 55,978,748 (GRCm39) |
Y133* |
probably null |
Het |
Dnaaf10 |
G |
A |
11: 17,179,845 (GRCm39) |
G282E |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,518,075 (GRCm39) |
I1300V |
probably benign |
Het |
Efcab12 |
T |
C |
6: 115,787,952 (GRCm39) |
Y670C |
probably damaging |
Het |
Frg1 |
T |
G |
8: 41,864,321 (GRCm39) |
K66N |
probably benign |
Het |
Gbp2b |
C |
A |
3: 142,312,642 (GRCm39) |
H342N |
probably benign |
Het |
Gria4 |
T |
A |
9: 4,464,295 (GRCm39) |
I556F |
possibly damaging |
Het |
Kcnh1 |
T |
G |
1: 191,959,307 (GRCm39) |
I287S |
probably damaging |
Het |
Map1b |
A |
G |
13: 99,578,203 (GRCm39) |
L150P |
probably damaging |
Het |
Map3k4 |
C |
T |
17: 12,457,045 (GRCm39) |
R1299Q |
probably benign |
Het |
Mapk10 |
T |
C |
5: 103,073,971 (GRCm39) |
N407D |
probably damaging |
Het |
Mcemp1 |
T |
A |
8: 3,717,390 (GRCm39) |
|
probably null |
Het |
Nav1 |
A |
C |
1: 135,397,762 (GRCm39) |
N802K |
possibly damaging |
Het |
Pcdhb2 |
T |
A |
18: 37,429,831 (GRCm39) |
N601K |
probably damaging |
Het |
Pi4ka |
T |
A |
16: 17,172,053 (GRCm39) |
H564L |
probably damaging |
Het |
Ppp2r2a |
G |
T |
14: 67,259,744 (GRCm39) |
N317K |
probably benign |
Het |
Pramel47 |
A |
G |
5: 95,489,177 (GRCm39) |
T207A |
possibly damaging |
Het |
Rars2 |
A |
T |
4: 34,650,243 (GRCm39) |
I343F |
possibly damaging |
Het |
Rnf213 |
T |
C |
11: 119,355,833 (GRCm39) |
F4092S |
probably damaging |
Het |
Tcp11 |
A |
G |
17: 28,289,444 (GRCm39) |
V209A |
possibly damaging |
Het |
Tet2 |
T |
C |
3: 133,187,124 (GRCm39) |
S1102G |
probably benign |
Het |
|
Other mutations in Pnp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00918:Pnp
|
APN |
14 |
51,188,459 (GRCm39) |
missense |
probably benign |
|
IGL01824:Pnp
|
APN |
14 |
51,188,870 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02649:Pnp
|
APN |
14 |
51,185,303 (GRCm39) |
splice site |
probably benign |
|
Porch
|
UTSW |
14 |
51,188,380 (GRCm39) |
nonsense |
probably null |
|
porch2
|
UTSW |
14 |
51,188,963 (GRCm39) |
nonsense |
probably null |
|
R0097:Pnp
|
UTSW |
14 |
51,188,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1510:Pnp
|
UTSW |
14 |
51,188,042 (GRCm39) |
missense |
possibly damaging |
0.80 |
R1823:Pnp
|
UTSW |
14 |
51,187,786 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Pnp
|
UTSW |
14 |
51,185,430 (GRCm39) |
missense |
probably benign |
0.00 |
R3429:Pnp
|
UTSW |
14 |
51,185,443 (GRCm39) |
missense |
probably benign |
0.10 |
R4639:Pnp
|
UTSW |
14 |
51,188,380 (GRCm39) |
nonsense |
probably null |
|
R5078:Pnp
|
UTSW |
14 |
51,188,963 (GRCm39) |
nonsense |
probably null |
|
R5982:Pnp
|
UTSW |
14 |
51,188,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R6431:Pnp
|
UTSW |
14 |
51,188,471 (GRCm39) |
missense |
probably damaging |
1.00 |
R7016:Pnp
|
UTSW |
14 |
51,187,706 (GRCm39) |
splice site |
probably null |
|
R7249:Pnp
|
UTSW |
14 |
51,188,887 (GRCm39) |
missense |
probably benign |
0.11 |
R7302:Pnp
|
UTSW |
14 |
51,188,404 (GRCm39) |
missense |
probably damaging |
0.96 |
R7717:Pnp
|
UTSW |
14 |
51,188,460 (GRCm39) |
missense |
probably benign |
0.00 |
R8348:Pnp
|
UTSW |
14 |
51,185,356 (GRCm39) |
missense |
probably benign |
|
R8448:Pnp
|
UTSW |
14 |
51,185,356 (GRCm39) |
missense |
probably benign |
|
R8879:Pnp
|
UTSW |
14 |
51,188,177 (GRCm39) |
critical splice donor site |
probably null |
|
R9444:Pnp
|
UTSW |
14 |
51,188,052 (GRCm39) |
missense |
probably damaging |
1.00 |
R9503:Pnp
|
UTSW |
14 |
51,188,423 (GRCm39) |
missense |
probably benign |
0.00 |
Z1088:Pnp
|
UTSW |
14 |
51,188,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |