Incidental Mutation 'R5078:Pnp'
ID |
386980 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pnp
|
Ensembl Gene |
ENSMUSG00000115338 |
Gene Name |
purine-nucleoside phosphorylase |
Synonyms |
Np, Np-2, Pnp1, Np-1, Pnp |
MMRRC Submission |
042667-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R5078 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
51181760-51190869 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 51188963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 252
(L252*)
|
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 null
Transcript: ENSMUST00000048615
AA Change: L252*
|
SMART Domains |
Protein: ENSMUSP00000043926 Gene: ENSMUSG00000115338 AA Change: L252*
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 null
Transcript: ENSMUST00000178092
AA Change: L252*
|
SMART Domains |
Protein: ENSMUSP00000136557 Gene: ENSMUSG00000115338 AA Change: L252*
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228593
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (53/53) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy9 |
T |
C |
16: 4,141,771 (GRCm39) |
S345G |
probably benign |
Het |
Adgrf2 |
A |
T |
17: 43,021,877 (GRCm39) |
F316I |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,736,002 (GRCm39) |
|
probably benign |
Het |
Auts2 |
T |
C |
5: 132,287,786 (GRCm39) |
K66E |
possibly damaging |
Het |
Bicra |
T |
C |
7: 15,709,382 (GRCm39) |
D1144G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,557,312 (GRCm39) |
S1109P |
probably damaging |
Het |
Camkv |
T |
C |
9: 107,822,572 (GRCm39) |
V29A |
probably damaging |
Het |
Ccdc178 |
A |
T |
18: 22,200,685 (GRCm39) |
|
probably null |
Het |
Ccser1 |
G |
A |
6: 61,288,350 (GRCm39) |
R171H |
probably damaging |
Het |
Cdk19 |
A |
G |
10: 40,312,150 (GRCm39) |
Y133C |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,223,352 (GRCm39) |
D123V |
probably benign |
Het |
Chd1 |
T |
C |
17: 15,946,616 (GRCm39) |
S121P |
possibly damaging |
Het |
Col4a2 |
T |
C |
8: 11,493,936 (GRCm39) |
V1459A |
probably benign |
Het |
Dlg1 |
T |
A |
16: 31,675,287 (GRCm39) |
Y704* |
probably null |
Het |
Dsg2 |
T |
C |
18: 20,729,140 (GRCm39) |
|
probably null |
Het |
Egln3 |
T |
C |
12: 54,228,453 (GRCm39) |
R218G |
probably damaging |
Het |
Gm11568 |
T |
C |
11: 99,749,181 (GRCm39) |
C129R |
unknown |
Het |
Gm13991 |
T |
C |
2: 116,358,355 (GRCm39) |
|
noncoding transcript |
Het |
Gmnc |
C |
A |
16: 26,784,332 (GRCm39) |
V58L |
probably benign |
Het |
Gpx5 |
A |
G |
13: 21,472,881 (GRCm39) |
F151S |
probably damaging |
Het |
Helz |
G |
A |
11: 107,546,922 (GRCm39) |
G1079R |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,969 (GRCm39) |
E1039G |
probably benign |
Het |
Kif18a |
T |
C |
2: 109,125,487 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,143,530 (GRCm39) |
T500A |
possibly damaging |
Het |
Lrfn5 |
A |
C |
12: 61,890,660 (GRCm39) |
K650Q |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,331,874 (GRCm39) |
D1627G |
possibly damaging |
Het |
Nxn |
T |
C |
11: 76,152,433 (GRCm39) |
K354E |
probably damaging |
Het |
Or5d20-ps1 |
T |
A |
2: 87,931,879 (GRCm39) |
I151L |
probably benign |
Het |
Pcnx2 |
T |
C |
8: 126,478,895 (GRCm39) |
T2118A |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,598,105 (GRCm39) |
F861L |
possibly damaging |
Het |
Piezo2 |
A |
G |
18: 63,157,607 (GRCm39) |
Y2368H |
probably damaging |
Het |
Prom2 |
T |
C |
2: 127,373,757 (GRCm39) |
Q641R |
probably benign |
Het |
Prpf31 |
T |
C |
7: 3,637,702 (GRCm39) |
S180P |
possibly damaging |
Het |
Prss27 |
C |
A |
17: 24,263,414 (GRCm39) |
Y142* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,201,082 (GRCm39) |
M265R |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Ropn1 |
T |
A |
16: 34,487,161 (GRCm39) |
D32E |
probably damaging |
Het |
Rps23 |
T |
C |
13: 91,071,822 (GRCm39) |
F41L |
probably benign |
Het |
Sec24d |
A |
G |
3: 123,084,201 (GRCm39) |
I127V |
probably benign |
Het |
Selenot |
C |
T |
3: 58,492,692 (GRCm39) |
R60W |
probably damaging |
Het |
Tll1 |
T |
C |
8: 64,546,921 (GRCm39) |
K342E |
probably damaging |
Het |
Tlx1 |
A |
T |
19: 45,144,460 (GRCm39) |
N61Y |
probably damaging |
Het |
Vmn2r117 |
T |
A |
17: 23,679,122 (GRCm39) |
I701F |
probably damaging |
Het |
Zmynd12 |
A |
G |
4: 119,302,047 (GRCm39) |
K229E |
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 |
|
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCTAGTAAGGCTACCTGAGAG -3'
(R):5'- TAGAGAGCTACTTGGACCCC -3'
Sequencing Primer
(F):5'- TGGATGCTTTCTGAAATTCAGTGAAC -3'
(R):5'- TACTTGGACCCCACCAGG -3'
|
Posted On |
2016-06-06 |