Incidental Mutation 'IGL02025:Pnp2'
| ID |
184133 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pnp2
|
| Ensembl Gene |
ENSMUSG00000068417 |
| Gene Name |
purine-nucleoside phosphorylase 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL02025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51193598-51202206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51197010 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 32
(L32H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095925]
[ENSMUST00000178092]
[ENSMUST00000227052]
|
| AlphaFold |
Q9D8C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095925
AA Change: L32H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: L32H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
41 |
295 |
4.9e-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 |
probably benign
Transcript: ENSMUST00000227052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228593
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,866,770 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,118 (GRCm39) |
T1511A |
probably benign |
Het |
| Casp8 |
A |
C |
1: 58,863,306 (GRCm39) |
I69L |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,220,922 (GRCm39) |
E1274G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,554,036 (GRCm39) |
S230R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,103,976 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
G |
14: 68,000,736 (GRCm39) |
S1656P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,228 (GRCm39) |
V72D |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,337 (GRCm39) |
D1508G |
probably damaging |
Het |
| Gm20489 |
A |
C |
X: 100,307,290 (GRCm39) |
V21G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,302,056 (GRCm39) |
N22S |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,912,276 (GRCm39) |
|
probably null |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,197,751 (GRCm39) |
T501A |
probably benign |
Het |
| Npnt |
A |
C |
3: 132,596,523 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
G |
A |
3: 102,856,942 (GRCm39) |
|
probably benign |
Het |
| Opalin |
T |
C |
19: 41,060,674 (GRCm39) |
|
probably benign |
Het |
| Or10ak9 |
G |
A |
4: 118,726,362 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,433 (GRCm39) |
V20A |
possibly damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,269 (GRCm39) |
I214V |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,840,101 (GRCm39) |
L341H |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,212,469 (GRCm39) |
F571S |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,191 (GRCm39) |
S460P |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,008 (GRCm39) |
S619P |
probably benign |
Het |
| Sirpb1b |
C |
T |
3: 15,613,863 (GRCm39) |
R73Q |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,571,539 (GRCm39) |
G90E |
possibly damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,620,713 (GRCm39) |
R366W |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,484 (GRCm39) |
Y783* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,464 (GRCm39) |
S55F |
probably damaging |
Het |
|
| Other mutations in Pnp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02418:Pnp2
|
APN |
14 |
51,201,293 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL03216:Pnp2
|
APN |
14 |
51,200,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03388:Pnp2
|
APN |
14 |
51,200,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Pnp2
|
UTSW |
14 |
51,196,990 (GRCm39) |
nonsense |
probably null |
|
|
R0097:Pnp2
|
UTSW |
14 |
51,200,958 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0123:Pnp2
|
UTSW |
14 |
51,200,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0134:Pnp2
|
UTSW |
14 |
51,200,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Pnp2
|
UTSW |
14 |
51,201,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1477:Pnp2
|
UTSW |
14 |
51,196,992 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1820:Pnp2
|
UTSW |
14 |
51,201,914 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1934:Pnp2
|
UTSW |
14 |
51,193,675 (GRCm39) |
missense |
probably benign |
|
|
R2138:Pnp2
|
UTSW |
14 |
51,201,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3843:Pnp2
|
UTSW |
14 |
51,200,878 (GRCm39) |
missense |
probably null |
1.00 |
|
R4355:Pnp2
|
UTSW |
14 |
51,197,082 (GRCm39) |
missense |
probably benign |
|
|
R4938:Pnp2
|
UTSW |
14 |
51,201,025 (GRCm39) |
splice site |
probably null |
|
|
R5516:Pnp2
|
UTSW |
14 |
51,201,195 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5636:Pnp2
|
UTSW |
14 |
51,193,649 (GRCm39) |
splice site |
probably null |
|
|
R6396:Pnp2
|
UTSW |
14 |
51,200,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Pnp2
|
UTSW |
14 |
51,201,931 (GRCm39) |
makesense |
probably null |
|
|
R7862:Pnp2
|
UTSW |
14 |
51,201,016 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7934:Pnp2
|
UTSW |
14 |
51,201,903 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8057:Pnp2
|
UTSW |
14 |
51,201,838 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8104:Pnp2
|
UTSW |
14 |
51,197,099 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8488:Pnp2
|
UTSW |
14 |
51,201,836 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8519:Pnp2
|
UTSW |
14 |
51,201,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Pnp2
|
UTSW |
14 |
51,200,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8916:Pnp2
|
UTSW |
14 |
51,201,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9592:Pnp2
|
UTSW |
14 |
51,196,981 (GRCm39) |
nonsense |
probably null |
|
|
R9592:Pnp2
|
UTSW |
14 |
51,196,979 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9762:Pnp2
|
UTSW |
14 |
51,197,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2014-05-07 |
Incidental Mutation