Incidental Mutation 'R2967:Pwp2'
| ID |
263295 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwp2
|
| Ensembl Gene |
ENSMUSG00000032834 |
| Gene Name |
PWP2 periodic tryptophan protein homolog (yeast) |
| Synonyms |
Pwp2, Pwp2h, 6530411D08Rik |
| MMRRC Submission |
040523-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.721)
|
| Stock # |
R2967 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78006743-78020983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 78018532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 84
(L84S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000384]
[ENSMUST00000042556]
|
| AlphaFold |
Q8BU03 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000384
|
| SMART Domains |
Protein: ENSMUSP00000000384
Gene: ENSMUSG00000000374
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TRAPPC10
|
1016 |
1245 |
1.1e-45 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042556
AA Change: L84S
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: L84S
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
83 |
1.47e2 |
SMART |
|
WD40
|
86 |
123 |
1.78e1 |
SMART |
|
WD40
|
133 |
172 |
5.35e-1 |
SMART |
|
WD40
|
177 |
216 |
8.29e-1 |
SMART |
|
low complexity region
|
239 |
254 |
N/A |
INTRINSIC |
|
WD40
|
273 |
316 |
1.9e2 |
SMART |
|
WD40
|
319 |
359 |
4.44e0 |
SMART |
|
WD40
|
362 |
401 |
7.44e-8 |
SMART |
|
WD40
|
404 |
443 |
3.87e-6 |
SMART |
|
WD40
|
446 |
487 |
5.7e1 |
SMART |
|
WD40
|
490 |
529 |
1.28e-11 |
SMART |
|
WD40
|
533 |
571 |
9.94e-1 |
SMART |
|
WD40
|
594 |
633 |
4.95e0 |
SMART |
|
WD40
|
692 |
729 |
2.21e1 |
SMART |
|
Pfam:Utp12
|
771 |
875 |
9.4e-25 |
PFAM |
|
low complexity region
|
890 |
902 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,304,131 (GRCm39) |
S185G |
possibly damaging |
Het |
| Adgra1 |
G |
A |
7: 139,455,601 (GRCm39) |
E410K |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,361,993 (GRCm39) |
N733I |
probably damaging |
Het |
| Bola3 |
T |
A |
6: 83,326,280 (GRCm39) |
Y24N |
probably benign |
Het |
| Cntn6 |
G |
A |
6: 104,703,198 (GRCm39) |
V135I |
probably benign |
Het |
| Eif2s3y |
A |
T |
Y: 1,020,030 (GRCm39) |
M353L |
probably benign |
Het |
| Ercc8 |
C |
A |
13: 108,297,248 (GRCm39) |
P53T |
probably damaging |
Het |
| Gan |
A |
G |
8: 117,910,265 (GRCm39) |
K65E |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,792,339 (GRCm39) |
E597G |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,773,909 (GRCm39) |
H81L |
probably benign |
Het |
| Hs2st1 |
T |
A |
3: 144,170,899 (GRCm39) |
N91I |
probably damaging |
Het |
| Or1e31 |
A |
G |
11: 73,689,933 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or7a41 |
A |
T |
10: 78,870,887 (GRCm39) |
I86F |
probably damaging |
Het |
| Pgr |
T |
C |
9: 8,901,819 (GRCm39) |
S451P |
possibly damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,686 (GRCm39) |
R394S |
probably damaging |
Het |
| Rab1a |
T |
A |
11: 20,173,068 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
T |
C |
13: 51,824,915 (GRCm39) |
S388P |
probably benign |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Sybu |
T |
C |
15: 44,609,752 (GRCm39) |
K172R |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,219,339 (GRCm39) |
A1197V |
probably benign |
Het |
| Ttf1 |
T |
A |
2: 28,955,395 (GRCm39) |
V253D |
possibly damaging |
Het |
| Ugt2a2 |
A |
T |
5: 87,622,488 (GRCm39) |
V160E |
probably damaging |
Het |
| Vmn1r81 |
G |
T |
7: 11,993,964 (GRCm39) |
Q215K |
probably damaging |
Het |
| Zfp653 |
A |
G |
9: 21,977,026 (GRCm39) |
L147P |
probably damaging |
Het |
|
| Other mutations in Pwp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Pwp2
|
APN |
10 |
78,014,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Pwp2
|
APN |
10 |
78,014,119 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02280:Pwp2
|
APN |
10 |
78,019,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02558:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Pwp2
|
APN |
10 |
78,016,917 (GRCm39) |
missense |
probably benign |
|
|
IGL02612:Pwp2
|
APN |
10 |
78,018,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Pwp2
|
UTSW |
10 |
78,020,921 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
PIT4449001:Pwp2
|
UTSW |
10 |
78,014,304 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0573:Pwp2
|
UTSW |
10 |
78,018,520 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1835:Pwp2
|
UTSW |
10 |
78,014,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Pwp2
|
UTSW |
10 |
78,013,576 (GRCm39) |
splice site |
probably benign |
|
|
R2251:Pwp2
|
UTSW |
10 |
78,016,922 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4909:Pwp2
|
UTSW |
10 |
78,018,328 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4950:Pwp2
|
UTSW |
10 |
78,018,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4970:Pwp2
|
UTSW |
10 |
78,009,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5015:Pwp2
|
UTSW |
10 |
78,018,527 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5355:Pwp2
|
UTSW |
10 |
78,011,378 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5390:Pwp2
|
UTSW |
10 |
78,013,605 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5416:Pwp2
|
UTSW |
10 |
78,018,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Pwp2
|
UTSW |
10 |
78,007,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Pwp2
|
UTSW |
10 |
78,018,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6495:Pwp2
|
UTSW |
10 |
78,012,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Pwp2
|
UTSW |
10 |
78,018,222 (GRCm39) |
splice site |
probably null |
|
|
R6848:Pwp2
|
UTSW |
10 |
78,020,127 (GRCm39) |
splice site |
probably null |
|
|
R6897:Pwp2
|
UTSW |
10 |
78,007,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Pwp2
|
UTSW |
10 |
78,009,084 (GRCm39) |
splice site |
probably null |
|
|
R7269:Pwp2
|
UTSW |
10 |
78,012,170 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7367:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Pwp2
|
UTSW |
10 |
78,014,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Pwp2
|
UTSW |
10 |
78,018,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7898:Pwp2
|
UTSW |
10 |
78,009,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Pwp2
|
UTSW |
10 |
78,007,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8447:Pwp2
|
UTSW |
10 |
78,007,873 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8750:Pwp2
|
UTSW |
10 |
78,013,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Pwp2
|
UTSW |
10 |
78,009,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9367:Pwp2
|
UTSW |
10 |
78,014,827 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pwp2
|
UTSW |
10 |
78,007,808 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGCATTGAACTCTCGCTTC -3'
(R):5'- AGGGTCAAGTTCAGCTTCATAG -3'
Sequencing Primer
(F):5'- AATGTTGCCCTTTGTGACAACG -3'
(R):5'- GCTTCATAGCACAGGTTCCAG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation