Incidental Mutation 'IGL01824:Pnp'
| ID |
154618 |
| 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: 0.108)
|
| Stock # |
IGL01824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51181760-51190869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51188870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 221
(T221I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136557
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048615]
[ENSMUST00000095925]
[ENSMUST00000178092]
[ENSMUST00000226871]
[ENSMUST00000227052]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048615
AA Change: T221I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043926
Gene: ENSMUSG00000115338
AA Change: T221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
26 |
280 |
5.2e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095925
|
| SMART Domains |
Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
41 |
295 |
4.9e-56 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178092
AA Change: T221I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136557
Gene: ENSMUSG00000115338
AA Change: T221I
| 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: ENSMUST00000228593
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17c |
G |
A |
7: 83,800,497 (GRCm39) |
R186C |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Asah1 |
A |
T |
8: 41,802,580 (GRCm39) |
|
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,494 (GRCm39) |
W400R |
probably damaging |
Het |
| Cyp27a1 |
G |
T |
1: 74,775,040 (GRCm39) |
E290* |
probably null |
Het |
| Dnah7a |
T |
C |
1: 53,543,429 (GRCm39) |
D2247G |
probably benign |
Het |
| Gins4 |
G |
A |
8: 23,724,784 (GRCm39) |
Q57* |
probably null |
Het |
| Gli1 |
T |
C |
10: 127,172,396 (GRCm39) |
D219G |
probably benign |
Het |
| Greb1 |
A |
T |
12: 16,761,717 (GRCm39) |
C554* |
probably null |
Het |
| Gtf2ird2 |
T |
C |
5: 134,226,123 (GRCm39) |
|
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,020 (GRCm39) |
R155G |
probably benign |
Het |
| Lck |
T |
A |
4: 129,451,939 (GRCm39) |
M14L |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,336,691 (GRCm39) |
D322G |
probably damaging |
Het |
| Or4b1b |
T |
A |
2: 90,112,263 (GRCm39) |
I219F |
probably damaging |
Het |
| Pcdh18 |
A |
T |
3: 49,709,223 (GRCm39) |
D697E |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,905,753 (GRCm39) |
I1514T |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,365,516 (GRCm39) |
M523V |
probably benign |
Het |
| Sema4c |
A |
G |
1: 36,592,110 (GRCm39) |
Y246H |
possibly damaging |
Het |
| Slco1a5 |
T |
A |
6: 142,198,763 (GRCm39) |
I301F |
probably benign |
Het |
| Srebf1 |
A |
G |
11: 60,094,957 (GRCm39) |
S446P |
probably benign |
Het |
| Sys1 |
T |
G |
2: 164,305,225 (GRCm39) |
L56R |
probably damaging |
Het |
| Trpc7 |
G |
T |
13: 56,937,535 (GRCm39) |
Y585* |
probably null |
Het |
| Vmn2r110 |
T |
A |
17: 20,794,929 (GRCm39) |
Y580F |
probably benign |
Het |
| Zmym6 |
G |
T |
4: 127,002,499 (GRCm39) |
V485F |
probably damaging |
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 |
|
|
IGL02649:Pnp
|
APN |
14 |
51,185,303 (GRCm39) |
splice site |
probably benign |
|
|
IGL03148:Pnp
|
APN |
14 |
51,188,185 (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 |
2014-02-04 |
Incidental Mutation