Incidental Mutation 'IGL03216:Pnp2'
| ID |
413466 |
| 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: 0.129)
|
| Stock # |
IGL03216
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51193598-51202206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 51200654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 107
(S107A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095925]
[ENSMUST00000178092]
[ENSMUST00000227052]
|
| AlphaFold |
Q9D8C9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095925
AA Change: S107A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: S107A
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano10 |
A |
T |
9: 122,086,127 (GRCm39) |
Y491N |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,558,840 (GRCm39) |
F709L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,439,944 (GRCm38) |
I1196T |
probably damaging |
Het |
| Cage1 |
T |
C |
13: 38,190,153 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,736,373 (GRCm39) |
C2888S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,844,932 (GRCm39) |
T46A |
possibly damaging |
Het |
| Cyp2d26 |
T |
C |
15: 82,677,462 (GRCm39) |
M76V |
probably benign |
Het |
| Fermt3 |
A |
T |
19: 6,976,748 (GRCm39) |
D653E |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,467,180 (GRCm39) |
|
probably benign |
Het |
| Gm21985 |
T |
A |
2: 112,097,281 (GRCm39) |
S39T |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,386,228 (GRCm39) |
D3727V |
probably benign |
Het |
| Ifi208 |
A |
T |
1: 173,506,507 (GRCm39) |
T97S |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,392,836 (GRCm39) |
E709G |
probably benign |
Het |
| Itgb5 |
T |
A |
16: 33,723,208 (GRCm39) |
H361Q |
probably benign |
Het |
| Mr1 |
T |
A |
1: 155,005,035 (GRCm39) |
N335I |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,351,582 (GRCm39) |
F684I |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,455,721 (GRCm39) |
I2544F |
probably benign |
Het |
| Or6c1b |
A |
G |
10: 129,272,806 (GRCm39) |
T42A |
probably damaging |
Het |
| Pomt1 |
A |
G |
2: 32,132,955 (GRCm39) |
I184V |
probably damaging |
Het |
| Slc6a19 |
T |
G |
13: 73,834,300 (GRCm39) |
M301L |
probably benign |
Het |
| Smarca5 |
T |
C |
8: 81,446,287 (GRCm39) |
Y471C |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,735 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
C |
T |
13: 3,624,553 (GRCm39) |
C1799Y |
probably damaging |
Het |
| Tex55 |
T |
C |
16: 38,649,052 (GRCm39) |
D19G |
possibly damaging |
Het |
| Trmt6 |
T |
C |
2: 132,650,618 (GRCm39) |
N330S |
probably null |
Het |
| Tsc22d1 |
T |
C |
14: 76,656,077 (GRCm39) |
V770A |
probably benign |
Het |
| Ttll6 |
A |
G |
11: 96,042,840 (GRCm39) |
D462G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,775,393 (GRCm39) |
H1883R |
probably damaging |
Het |
| Ubxn10 |
C |
T |
4: 138,448,050 (GRCm39) |
V209M |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,002 (GRCm39) |
T540A |
probably benign |
Het |
| Vmn2r17 |
A |
T |
5: 109,600,756 (GRCm39) |
R685W |
probably damaging |
Het |
| Vps4a |
C |
T |
8: 107,763,335 (GRCm39) |
R30C |
probably damaging |
Het |
| Xpo6 |
A |
G |
7: 125,703,985 (GRCm39) |
V1055A |
probably damaging |
Het |
| Zfp445 |
C |
T |
9: 122,681,043 (GRCm39) |
C966Y |
probably damaging |
Het |
|
| Other mutations in Pnp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02025:Pnp2
|
APN |
14 |
51,197,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02418:Pnp2
|
APN |
14 |
51,201,293 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
2016-08-02 |
Incidental Mutation