Incidental Mutation 'R2299:Ppwd1'
ID |
245275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ppwd1
|
Ensembl Gene |
ENSMUSG00000021713 |
Gene Name |
peptidylprolyl isomerase domain and WD repeat containing 1 |
Synonyms |
4632422M10Rik, A330090G21Rik |
MMRRC Submission |
040298-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R2299 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
104341632-104365351 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 104356571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 315
(M315V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022226
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022226]
|
AlphaFold |
Q8CEC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022226
AA Change: M315V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022226 Gene: ENSMUSG00000021713 AA Change: M315V
Domain | Start | End | E-Value | Type |
WD40
|
80 |
117 |
2.96e-2 |
SMART |
WD40
|
122 |
161 |
8.49e-3 |
SMART |
Blast:WD40
|
164 |
207 |
9e-6 |
BLAST |
WD40
|
211 |
251 |
2.76e0 |
SMART |
WD40
|
269 |
308 |
1.4e-3 |
SMART |
Blast:WD40
|
343 |
382 |
2e-6 |
BLAST |
Blast:WD40
|
433 |
460 |
3e-7 |
BLAST |
Pfam:Pro_isomerase
|
493 |
645 |
1.9e-52 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225798
|
Meta Mutation Damage Score |
0.0585 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (37/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933434E20Rik |
A |
G |
3: 89,971,845 (GRCm39) |
N68S |
possibly damaging |
Het |
5031439G07Rik |
A |
C |
15: 84,837,486 (GRCm39) |
F276V |
possibly damaging |
Het |
Abca12 |
C |
T |
1: 71,297,381 (GRCm39) |
V2370I |
probably damaging |
Het |
Acsl3 |
T |
G |
1: 78,676,827 (GRCm39) |
C469W |
probably damaging |
Het |
Adgrg5 |
A |
T |
8: 95,665,204 (GRCm39) |
I372F |
possibly damaging |
Het |
Ankrd42 |
A |
G |
7: 92,239,462 (GRCm39) |
I442T |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bmpr1b |
C |
A |
3: 141,550,963 (GRCm39) |
R376L |
probably damaging |
Het |
C1qtnf6 |
T |
A |
15: 78,409,542 (GRCm39) |
T102S |
probably benign |
Het |
Chordc1 |
T |
C |
9: 18,213,404 (GRCm39) |
L85P |
probably damaging |
Het |
Clec2j |
T |
A |
6: 128,632,199 (GRCm39) |
|
noncoding transcript |
Het |
Copa |
T |
C |
1: 171,949,292 (GRCm39) |
I1223T |
probably benign |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cyfip2 |
T |
A |
11: 46,176,958 (GRCm39) |
E74V |
probably benign |
Het |
Dsg1a |
A |
T |
18: 20,473,207 (GRCm39) |
D760V |
probably damaging |
Het |
Folr1 |
A |
G |
7: 101,513,199 (GRCm39) |
L32P |
probably damaging |
Het |
Galnt13 |
A |
T |
2: 54,950,595 (GRCm39) |
R425S |
possibly damaging |
Het |
Gm4559 |
A |
T |
7: 141,827,572 (GRCm39) |
C177S |
unknown |
Het |
H2bc9 |
A |
G |
13: 23,727,354 (GRCm39) |
S57P |
probably damaging |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,812,636 (GRCm39) |
D459G |
probably damaging |
Het |
Limd1 |
A |
T |
9: 123,345,942 (GRCm39) |
K574* |
probably null |
Het |
Mmrn1 |
A |
G |
6: 60,953,425 (GRCm39) |
K569E |
probably damaging |
Het |
Or51f1d |
T |
C |
7: 102,700,789 (GRCm39) |
W95R |
probably damaging |
Het |
Ppp4r3c1 |
A |
G |
X: 88,976,005 (GRCm39) |
M64T |
possibly damaging |
Het |
Prss21 |
A |
G |
17: 24,088,563 (GRCm39) |
E176G |
probably benign |
Het |
Ptpn23 |
A |
G |
9: 110,221,581 (GRCm39) |
I173T |
possibly damaging |
Het |
Rit1 |
T |
A |
3: 88,633,377 (GRCm39) |
|
probably null |
Het |
Rnf14 |
C |
T |
18: 38,441,138 (GRCm39) |
A176V |
probably benign |
Het |
Sema5a |
T |
A |
15: 32,562,922 (GRCm39) |
V311E |
possibly damaging |
Het |
Slc28a2 |
C |
T |
2: 122,272,259 (GRCm39) |
Q34* |
probably null |
Het |
Spire1 |
A |
C |
18: 67,663,493 (GRCm39) |
L36R |
probably damaging |
Het |
Usp33 |
T |
A |
3: 152,080,258 (GRCm39) |
V463E |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,815,944 (GRCm39) |
L813S |
possibly damaging |
Het |
Vmn1r174 |
A |
T |
7: 23,453,429 (GRCm39) |
I32F |
probably benign |
Het |
Zbtb24 |
G |
A |
10: 41,340,577 (GRCm39) |
V536M |
probably damaging |
Het |
|
Other mutations in Ppwd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00321:Ppwd1
|
APN |
13 |
104,353,651 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01582:Ppwd1
|
APN |
13 |
104,350,212 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01697:Ppwd1
|
APN |
13 |
104,356,972 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01771:Ppwd1
|
APN |
13 |
104,353,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02414:Ppwd1
|
APN |
13 |
104,359,645 (GRCm39) |
missense |
probably benign |
|
IGL02803:Ppwd1
|
APN |
13 |
104,350,192 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02873:Ppwd1
|
APN |
13 |
104,346,261 (GRCm39) |
missense |
probably damaging |
1.00 |
F5770:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
R0462:Ppwd1
|
UTSW |
13 |
104,359,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1638:Ppwd1
|
UTSW |
13 |
104,356,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R2211:Ppwd1
|
UTSW |
13 |
104,343,650 (GRCm39) |
missense |
probably benign |
0.26 |
R2226:Ppwd1
|
UTSW |
13 |
104,353,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R2353:Ppwd1
|
UTSW |
13 |
104,350,090 (GRCm39) |
missense |
probably benign |
|
R2382:Ppwd1
|
UTSW |
13 |
104,343,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R3123:Ppwd1
|
UTSW |
13 |
104,350,198 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4521:Ppwd1
|
UTSW |
13 |
104,346,167 (GRCm39) |
missense |
probably benign |
0.16 |
R4972:Ppwd1
|
UTSW |
13 |
104,356,616 (GRCm39) |
missense |
probably benign |
0.00 |
R5125:Ppwd1
|
UTSW |
13 |
104,356,943 (GRCm39) |
missense |
probably benign |
0.14 |
R5178:Ppwd1
|
UTSW |
13 |
104,356,943 (GRCm39) |
missense |
probably benign |
0.14 |
R5468:Ppwd1
|
UTSW |
13 |
104,361,952 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5638:Ppwd1
|
UTSW |
13 |
104,356,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R6748:Ppwd1
|
UTSW |
13 |
104,344,538 (GRCm39) |
nonsense |
probably null |
|
R7095:Ppwd1
|
UTSW |
13 |
104,342,134 (GRCm39) |
missense |
probably benign |
0.21 |
R7201:Ppwd1
|
UTSW |
13 |
104,343,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R7206:Ppwd1
|
UTSW |
13 |
104,350,106 (GRCm39) |
missense |
probably damaging |
0.99 |
R7664:Ppwd1
|
UTSW |
13 |
104,356,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R7746:Ppwd1
|
UTSW |
13 |
104,353,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R9259:Ppwd1
|
UTSW |
13 |
104,359,612 (GRCm39) |
missense |
probably damaging |
1.00 |
R9354:Ppwd1
|
UTSW |
13 |
104,342,080 (GRCm39) |
missense |
probably benign |
0.00 |
R9408:Ppwd1
|
UTSW |
13 |
104,346,155 (GRCm39) |
missense |
possibly damaging |
0.74 |
V7580:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
V7581:Ppwd1
|
UTSW |
13 |
104,356,745 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- TATCACCTCAACAAATGCTGAGAG -3'
(R):5'- GCCGCACGAATATAAGTTCCC -3'
Sequencing Primer
(F):5'- GGTAATGAAGCAATATCACACGATC -3'
(R):5'- GTTCCCTAAAAATGTGAACTGGG -3'
|
Posted On |
2014-10-30 |