Incidental Mutation 'R6396:Pnp2'
| ID |
516017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnp2
|
| Ensembl Gene |
ENSMUSG00000068417 |
| Gene Name |
purine-nucleoside phosphorylase 2 |
| Synonyms |
|
| MMRRC Submission |
044544-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R6396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51193598-51202206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51200616 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 94
(V94E)
|
| 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: V94E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: V94E
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (36/36) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,296,224 (GRCm39) |
I947K |
probably damaging |
Het |
| B3galnt2 |
A |
T |
13: 14,170,333 (GRCm39) |
I447F |
probably damaging |
Het |
| Cacna2d3 |
C |
A |
14: 29,118,522 (GRCm39) |
V134L |
probably benign |
Het |
| Clcn4 |
C |
T |
7: 7,297,024 (GRCm39) |
G145S |
probably damaging |
Het |
| Cndp1 |
A |
T |
18: 84,650,135 (GRCm39) |
M186K |
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,627,461 (GRCm39) |
Y98C |
probably damaging |
Het |
| Ctsb |
T |
C |
14: 63,375,550 (GRCm39) |
V172A |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Dyrk1a |
C |
A |
16: 94,472,299 (GRCm39) |
Q230K |
probably damaging |
Het |
| Ech1 |
C |
T |
7: 28,529,763 (GRCm39) |
|
probably null |
Het |
| Fam81b |
T |
A |
13: 76,399,968 (GRCm39) |
R97W |
probably damaging |
Het |
| Heatr1 |
A |
G |
13: 12,420,978 (GRCm39) |
E423G |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,233,521 (GRCm39) |
K1786N |
probably damaging |
Het |
| Igf2r |
T |
C |
17: 12,932,977 (GRCm39) |
I848M |
probably benign |
Het |
| Igkv10-96 |
G |
A |
6: 68,608,969 (GRCm39) |
Q109* |
probably null |
Het |
| Mup6 |
T |
C |
4: 60,004,837 (GRCm39) |
I76T |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,315,738 (GRCm39) |
R243G |
probably benign |
Het |
| Nsd1 |
G |
A |
13: 55,386,602 (GRCm39) |
G119D |
probably damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,312 (GRCm39) |
H171R |
possibly damaging |
Het |
| Or4c113 |
A |
G |
2: 88,885,641 (GRCm39) |
I43T |
probably benign |
Het |
| Or4c120 |
T |
G |
2: 89,001,034 (GRCm39) |
D174A |
probably damaging |
Het |
| Or51ab3 |
C |
T |
7: 103,201,888 (GRCm39) |
Q299* |
probably null |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pank3 |
T |
C |
11: 35,669,516 (GRCm39) |
V250A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,334,495 (GRCm39) |
I270V |
possibly damaging |
Het |
| Prdm10 |
T |
C |
9: 31,229,842 (GRCm39) |
V86A |
possibly damaging |
Het |
| Resf1 |
A |
G |
6: 149,229,417 (GRCm39) |
D821G |
probably damaging |
Het |
| Riox1 |
G |
A |
12: 83,998,087 (GRCm39) |
D208N |
possibly damaging |
Het |
| Rrp15 |
A |
G |
1: 186,469,783 (GRCm39) |
|
probably null |
Het |
| Skor1 |
G |
T |
9: 63,052,232 (GRCm39) |
P579Q |
probably damaging |
Het |
| Slc44a4 |
T |
A |
17: 35,147,860 (GRCm39) |
Y481* |
probably null |
Het |
| Smg7 |
A |
T |
1: 152,724,351 (GRCm39) |
V610E |
probably benign |
Het |
| Tlx1 |
A |
G |
19: 45,144,491 (GRCm39) |
Q71R |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,201,125 (GRCm39) |
Y277* |
probably null |
Het |
| Zswim2 |
T |
A |
2: 83,754,062 (GRCm39) |
R199S |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATACAGGGAAGTATGCTTGC -3'
(R):5'- ACTCTCACTGGGAATGTCACC -3'
Sequencing Primer
(F):5'- CAGTCTAGGCTGGCCTTGAAC -3'
(R):5'- CACTGGGAATGTCACCTTAGATGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation