Incidental Mutation 'R3843:Pnp2'
| ID |
277258 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnp2
|
| Ensembl Gene |
ENSMUSG00000068417 |
| Gene Name |
purine-nucleoside phosphorylase 2 |
| Synonyms |
|
| MMRRC Submission |
040783-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.129)
|
| Stock # |
R3843 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
51193598-51202206 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51200878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 121
(L121Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095925]
[ENSMUST00000178092]
[ENSMUST00000227052]
|
| AlphaFold |
Q9D8C9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095925
AA Change: L121Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093615
Gene: ENSMUSG00000068417
AA Change: L121Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PNP_UDP_1
|
41 |
295 |
4.9e-56 |
PFAM |
|
| Predicted Effect |
probably null
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
|
| Meta Mutation Damage Score |
0.8846 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
T |
6: 23,092,495 (GRCm39) |
Y168* |
probably null |
Het |
| Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
| Arid2 |
C |
T |
15: 96,249,721 (GRCm39) |
T145I |
possibly damaging |
Het |
| Ccdc8 |
T |
C |
7: 16,729,039 (GRCm39) |
V176A |
probably damaging |
Het |
| Cdhr1 |
G |
T |
14: 36,806,884 (GRCm39) |
F440L |
probably benign |
Het |
| Ckap2 |
A |
T |
8: 22,665,774 (GRCm39) |
N424K |
probably damaging |
Het |
| Col6a1 |
C |
T |
10: 76,547,175 (GRCm39) |
R730H |
unknown |
Het |
| Dennd1b |
C |
A |
1: 138,981,092 (GRCm39) |
P102Q |
probably damaging |
Het |
| E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
| Eef1akmt2 |
C |
T |
7: 132,433,305 (GRCm39) |
V134I |
probably damaging |
Het |
| Elp3 |
A |
T |
14: 65,802,932 (GRCm39) |
|
probably null |
Het |
| Grap |
T |
G |
11: 61,551,151 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
C |
13: 12,450,002 (GRCm39) |
Y1999H |
probably benign |
Het |
| Hectd4 |
G |
T |
5: 121,397,936 (GRCm39) |
W288L |
possibly damaging |
Het |
| Hnf4g |
G |
A |
3: 3,716,362 (GRCm39) |
C262Y |
probably benign |
Het |
| Hrh4 |
A |
G |
18: 13,155,343 (GRCm39) |
Y294C |
possibly damaging |
Het |
| Igkv5-39 |
C |
A |
6: 69,877,526 (GRCm39) |
G77W |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,755,742 (GRCm39) |
L1952P |
probably damaging |
Het |
| Lgr4 |
C |
T |
2: 109,827,118 (GRCm39) |
|
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,782,828 (GRCm39) |
R194W |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,941,112 (GRCm39) |
F547L |
probably damaging |
Het |
| Or5m3 |
A |
G |
2: 85,838,548 (GRCm39) |
I143V |
probably benign |
Het |
| Pdp1 |
T |
C |
4: 11,961,961 (GRCm39) |
K117E |
probably benign |
Het |
| Phtf2 |
G |
A |
5: 20,979,020 (GRCm39) |
A31V |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,886,553 (GRCm39) |
Y42* |
probably null |
Het |
| Pkhd1 |
A |
T |
1: 20,628,947 (GRCm39) |
C667S |
probably benign |
Het |
| Ppfia1 |
C |
T |
7: 144,058,707 (GRCm39) |
R698Q |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,104,587 (GRCm39) |
F275I |
probably benign |
Het |
| Slc50a1 |
A |
T |
3: 89,177,207 (GRCm39) |
I70N |
probably damaging |
Het |
| Sytl2 |
C |
G |
7: 90,009,367 (GRCm39) |
T123R |
possibly damaging |
Het |
| Tlk1 |
T |
A |
2: 70,579,671 (GRCm39) |
T214S |
probably benign |
Het |
| Tmco3 |
A |
G |
8: 13,346,114 (GRCm39) |
|
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,344,914 (GRCm39) |
T335A |
probably benign |
Het |
| Zbtb47 |
T |
A |
9: 121,592,499 (GRCm39) |
V273E |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCAGGGGCACAAGCTTG -3'
(R):5'- GACAAGGCCAGACTCTCTAC -3'
Sequencing Primer
(F):5'- GCACAAGCTTGGTTGGATC -3'
(R):5'- AGGCCAGACTCTCTACATGTAG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation