Incidental Mutation 'R7717:Pnp'
ID |
594994 |
Institutional Source |
Beutler Lab
|
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 # |
R7717 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
51181760-51190869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 51188460 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 211
(M211I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043926
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048615]
[ENSMUST00000095925]
[ENSMUST00000178092]
[ENSMUST00000226871]
[ENSMUST00000227052]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048615
AA Change: M211I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000043926 Gene: ENSMUSG00000115338 AA Change: M211I
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 benign
Transcript: ENSMUST00000178092
AA Change: M211I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136557 Gene: ENSMUSG00000115338 AA Change: M211I
Domain | Start | End | E-Value | Type |
Pfam:PNP_UDP_1
|
26 |
280 |
2e-54 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226871
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227052
AA Change: M233I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
T |
C |
17: 43,761,644 (GRCm39) |
L1113P |
probably damaging |
Het |
Aldh3b3 |
T |
C |
19: 4,013,970 (GRCm39) |
L57P |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,559,251 (GRCm39) |
D132G |
probably benign |
Het |
Cep290 |
C |
T |
10: 100,328,543 (GRCm39) |
R111W |
probably benign |
Het |
Cfap44 |
A |
G |
16: 44,250,298 (GRCm39) |
D792G |
probably damaging |
Het |
Col20a1 |
C |
T |
2: 180,649,408 (GRCm39) |
R1029W |
probably damaging |
Het |
Csf3r |
A |
G |
4: 125,931,403 (GRCm39) |
Y462C |
probably damaging |
Het |
Cthrc1 |
T |
C |
15: 38,940,511 (GRCm39) |
V38A |
probably benign |
Het |
Cxcr2 |
T |
C |
1: 74,197,998 (GRCm39) |
V164A |
probably benign |
Het |
Efr3b |
A |
G |
12: 4,034,574 (GRCm39) |
S199P |
probably damaging |
Het |
Elavl4 |
A |
G |
4: 110,063,663 (GRCm39) |
C342R |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,042,356 (GRCm39) |
|
probably null |
Het |
Gm14190 |
A |
T |
11: 99,581,476 (GRCm39) |
C31S |
unknown |
Het |
Golt1b |
T |
A |
6: 142,339,769 (GRCm39) |
V78D |
probably damaging |
Het |
Gsdmc3 |
T |
A |
15: 63,741,061 (GRCm39) |
D29V |
probably damaging |
Het |
Itih1 |
T |
A |
14: 30,653,142 (GRCm39) |
D766V |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,926,879 (GRCm39) |
S251F |
probably damaging |
Het |
Lrp8 |
A |
G |
4: 107,691,940 (GRCm39) |
T115A |
probably benign |
Het |
Lrrc37a |
A |
G |
11: 103,395,126 (GRCm39) |
S100P |
probably benign |
Het |
Lss |
T |
C |
10: 76,381,286 (GRCm39) |
V424A |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,073 (GRCm39) |
V568A |
possibly damaging |
Het |
Myo10 |
A |
T |
15: 25,732,056 (GRCm39) |
T311S |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,172,578 (GRCm39) |
V779A |
probably benign |
Het |
Or10ak12 |
A |
T |
4: 118,666,130 (GRCm39) |
S310R |
probably damaging |
Het |
Or11h23 |
T |
A |
14: 50,948,219 (GRCm39) |
L144Q |
probably damaging |
Het |
Or2ag16 |
A |
G |
7: 106,351,843 (GRCm39) |
W251R |
possibly damaging |
Het |
Or2n1e |
C |
A |
17: 38,586,471 (GRCm39) |
Q270K |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,320,152 (GRCm39) |
T29A |
probably benign |
Het |
Or5b21 |
A |
T |
19: 12,839,159 (GRCm39) |
I7F |
probably benign |
Het |
Pak1 |
T |
A |
7: 97,535,555 (GRCm39) |
D215E |
probably benign |
Het |
Pde7b |
A |
G |
10: 20,282,937 (GRCm39) |
F355L |
probably benign |
Het |
Phaf1 |
C |
A |
8: 105,978,236 (GRCm39) |
Q397K |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,787 (GRCm39) |
S204P |
|
Het |
Pirb |
T |
C |
7: 3,720,782 (GRCm39) |
K239E |
not run |
Het |
Pirb |
C |
T |
7: 3,720,800 (GRCm39) |
G233R |
not run |
Het |
Pot1a |
A |
T |
6: 25,758,822 (GRCm39) |
L319Q |
probably benign |
Het |
Rspry1 |
G |
T |
8: 95,349,750 (GRCm39) |
C46F |
probably damaging |
Het |
Sanbr |
A |
C |
11: 23,556,757 (GRCm39) |
C408G |
probably benign |
Het |
Sec11c |
C |
T |
18: 65,945,783 (GRCm39) |
T82M |
possibly damaging |
Het |
Secisbp2 |
T |
C |
13: 51,827,134 (GRCm39) |
V414A |
probably benign |
Het |
Tenm2 |
A |
G |
11: 36,755,762 (GRCm39) |
F79L |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,042,019 (GRCm39) |
V232A |
possibly damaging |
Het |
Zbtb17 |
T |
C |
4: 141,193,394 (GRCm39) |
S593P |
probably damaging |
Het |
Zfp143 |
T |
G |
7: 109,685,427 (GRCm39) |
C419G |
possibly damaging |
Het |
Zfp804b |
T |
C |
5: 6,821,293 (GRCm39) |
N590S |
possibly 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 |
|
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 |
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'- TCTGAGATAATCCCACCTGTGTTC -3'
(R):5'- CTTGCAGCCACAGGTAGAGAAG -3'
Sequencing Primer
(F):5'- GCTTTCAGTGCCTGGAAA -3'
(R):5'- AGAGAAGGTGGCTGTACTTACATTC -3'
|
Posted On |
2019-11-12 |