Incidental Mutation 'R0311:Pbld2'
ID |
25212 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pbld2
|
Ensembl Gene |
ENSMUSG00000020072 |
Gene Name |
phenazine biosynthesis-like protein domain containing 2 |
Synonyms |
3110049J23Rik |
MMRRC Submission |
038521-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0311 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 62890286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020262
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020262]
[ENSMUST00000124784]
|
AlphaFold |
Q9CXN7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000020262
|
SMART Domains |
Protein: ENSMUSP00000020262 Gene: ENSMUSG00000020072
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
8 |
284 |
2e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124784
|
SMART Domains |
Protein: ENSMUSP00000121682 Gene: ENSMUSG00000020072
Domain | Start | End | E-Value | Type |
Pfam:PhzC-PhzF
|
69 |
175 |
1.5e-39 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130531
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155982
|
Meta Mutation Damage Score |
0.9487 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.6%
- 20x: 91.6%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
All alleles(21) : Gene trapped(21) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
C |
7: 120,002,127 (GRCm39) |
M1547L |
probably damaging |
Het |
Abcb4 |
A |
G |
5: 8,984,243 (GRCm39) |
K658E |
probably benign |
Het |
Abr |
A |
G |
11: 76,399,953 (GRCm39) |
S15P |
possibly damaging |
Het |
Adgrb2 |
G |
C |
4: 129,910,922 (GRCm39) |
A1168P |
probably damaging |
Het |
Adgre4 |
A |
T |
17: 56,109,010 (GRCm39) |
E339V |
probably benign |
Het |
Asprv1 |
T |
C |
6: 86,605,822 (GRCm39) |
W223R |
probably damaging |
Het |
Ccdc89 |
A |
G |
7: 90,075,901 (GRCm39) |
E37G |
probably damaging |
Het |
Cd48 |
C |
A |
1: 171,527,148 (GRCm39) |
Y191* |
probably null |
Het |
Chd4 |
T |
C |
6: 125,078,628 (GRCm39) |
I257T |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,257 (GRCm39) |
M2V |
probably benign |
Het |
Dnah11 |
A |
T |
12: 118,090,868 (GRCm39) |
D1025E |
probably benign |
Het |
Erich5 |
A |
G |
15: 34,473,085 (GRCm39) |
*363W |
probably null |
Het |
Etl4 |
A |
G |
2: 20,811,940 (GRCm39) |
D1341G |
probably damaging |
Het |
Fbxw11 |
A |
G |
11: 32,672,083 (GRCm39) |
T184A |
probably benign |
Het |
Fktn |
A |
G |
4: 53,744,620 (GRCm39) |
Q300R |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gdpd3 |
G |
A |
7: 126,366,361 (GRCm39) |
R66Q |
possibly damaging |
Het |
Hexb |
A |
G |
13: 97,320,327 (GRCm39) |
|
probably benign |
Het |
Kdm4b |
A |
G |
17: 56,693,200 (GRCm39) |
R346G |
probably benign |
Het |
Mbtd1 |
T |
A |
11: 93,812,183 (GRCm39) |
|
probably null |
Het |
Med23 |
T |
A |
10: 24,773,256 (GRCm39) |
C653S |
possibly damaging |
Het |
Nwd2 |
A |
T |
5: 63,962,341 (GRCm39) |
I642L |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,460 (GRCm39) |
Y71F |
possibly damaging |
Het |
Or5b21 |
A |
G |
19: 12,839,233 (GRCm39) |
I31M |
probably benign |
Het |
Or8b48 |
T |
C |
9: 38,450,593 (GRCm39) |
V134A |
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Plpp2 |
C |
T |
10: 79,363,414 (GRCm39) |
R77K |
probably damaging |
Het |
Pym1 |
G |
T |
10: 128,601,853 (GRCm39) |
R168L |
possibly damaging |
Het |
Rbm4 |
T |
C |
19: 4,837,584 (GRCm39) |
Y300C |
probably damaging |
Het |
Rnf207 |
A |
G |
4: 152,400,236 (GRCm39) |
C175R |
probably damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,407,581 (GRCm39) |
V3196A |
probably damaging |
Het |
Syne1 |
T |
A |
10: 5,298,943 (GRCm39) |
I1048L |
possibly damaging |
Het |
Th |
T |
C |
7: 142,449,778 (GRCm39) |
E41G |
probably damaging |
Het |
Tmx4 |
T |
A |
2: 134,440,446 (GRCm39) |
*336L |
probably null |
Het |
Tnfrsf18 |
T |
C |
4: 156,110,872 (GRCm39) |
V10A |
possibly damaging |
Het |
Tnxb |
A |
T |
17: 34,935,958 (GRCm39) |
I2670F |
probably damaging |
Het |
Tpx2 |
T |
C |
2: 152,732,412 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn2r73 |
A |
G |
7: 85,520,997 (GRCm39) |
S324P |
probably benign |
Het |
Vps18 |
T |
C |
2: 119,127,846 (GRCm39) |
Y890H |
probably benign |
Het |
Ythdc1 |
G |
A |
5: 86,983,564 (GRCm39) |
D670N |
probably damaging |
Het |
|
Other mutations in Pbld2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00927:Pbld2
|
APN |
10 |
62,907,734 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02162:Pbld2
|
APN |
10 |
62,907,179 (GRCm39) |
splice site |
probably benign |
|
IGL03206:Pbld2
|
APN |
10 |
62,883,261 (GRCm39) |
missense |
probably benign |
0.06 |
R0366:Pbld2
|
UTSW |
10 |
62,889,736 (GRCm39) |
unclassified |
probably benign |
|
R0727:Pbld2
|
UTSW |
10 |
62,903,298 (GRCm39) |
missense |
probably benign |
0.03 |
R0731:Pbld2
|
UTSW |
10 |
62,892,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R1412:Pbld2
|
UTSW |
10 |
62,883,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R1523:Pbld2
|
UTSW |
10 |
62,912,212 (GRCm39) |
missense |
probably benign |
0.01 |
R1531:Pbld2
|
UTSW |
10 |
62,889,732 (GRCm39) |
critical splice donor site |
probably null |
|
R1773:Pbld2
|
UTSW |
10 |
62,890,150 (GRCm39) |
missense |
probably benign |
0.03 |
R1778:Pbld2
|
UTSW |
10 |
62,890,150 (GRCm39) |
missense |
probably benign |
0.03 |
R1797:Pbld2
|
UTSW |
10 |
62,910,903 (GRCm39) |
critical splice donor site |
probably null |
|
R2251:Pbld2
|
UTSW |
10 |
62,860,384 (GRCm39) |
unclassified |
probably benign |
|
R3036:Pbld2
|
UTSW |
10 |
62,907,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R3117:Pbld2
|
UTSW |
10 |
62,890,215 (GRCm39) |
missense |
probably benign |
0.00 |
R3622:Pbld2
|
UTSW |
10 |
62,897,470 (GRCm39) |
missense |
probably damaging |
0.97 |
R3624:Pbld2
|
UTSW |
10 |
62,897,470 (GRCm39) |
missense |
probably damaging |
0.97 |
R3734:Pbld2
|
UTSW |
10 |
62,907,244 (GRCm39) |
missense |
probably damaging |
1.00 |
R4260:Pbld2
|
UTSW |
10 |
62,860,186 (GRCm39) |
unclassified |
probably benign |
|
R4684:Pbld2
|
UTSW |
10 |
62,893,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Pbld2
|
UTSW |
10 |
62,883,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R4936:Pbld2
|
UTSW |
10 |
62,888,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R5508:Pbld2
|
UTSW |
10 |
62,902,444 (GRCm39) |
splice site |
probably null |
|
R5596:Pbld2
|
UTSW |
10 |
62,907,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5603:Pbld2
|
UTSW |
10 |
62,907,228 (GRCm39) |
missense |
probably benign |
|
R6298:Pbld2
|
UTSW |
10 |
62,874,931 (GRCm39) |
missense |
probably benign |
0.05 |
R6404:Pbld2
|
UTSW |
10 |
62,890,107 (GRCm39) |
missense |
probably damaging |
0.98 |
R7089:Pbld2
|
UTSW |
10 |
62,889,691 (GRCm39) |
missense |
probably benign |
0.23 |
R7134:Pbld2
|
UTSW |
10 |
62,860,368 (GRCm39) |
unclassified |
probably benign |
|
R7423:Pbld2
|
UTSW |
10 |
62,883,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8016:Pbld2
|
UTSW |
10 |
62,883,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R8039:Pbld2
|
UTSW |
10 |
62,883,771 (GRCm39) |
missense |
probably damaging |
1.00 |
R8119:Pbld2
|
UTSW |
10 |
62,889,656 (GRCm39) |
missense |
probably benign |
0.34 |
R8281:Pbld2
|
UTSW |
10 |
62,883,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R8747:Pbld2
|
UTSW |
10 |
62,888,069 (GRCm39) |
missense |
probably benign |
0.07 |
YA93:Pbld2
|
UTSW |
10 |
62,890,224 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTCCAAAGCATGGCTTCCC -3'
(R):5'- GCTCACTATCTTGACAGTGTGCCC -3'
Sequencing Primer
(F):5'- atccacctgcctctgcc -3'
(R):5'- GACAGTGTGCCCTCTTCTG -3'
|
Posted On |
2013-04-16 |