Incidental Mutation 'R8016:Pbld2'
| ID |
617185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbld2
|
| Ensembl Gene |
ENSMUSG00000020072 |
| Gene Name |
phenazine biosynthesis-like protein domain containing 2 |
| Synonyms |
3110049J23Rik |
| MMRRC Submission |
067456-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62883744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 70
(F70L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020262]
[ENSMUST00000124784]
|
| AlphaFold |
Q9CXN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020262
AA Change: F70L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020262
Gene: ENSMUSG00000020072
AA Change: F70L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
8 |
284 |
2e-64 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124784
AA Change: F131L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121682
Gene: ENSMUSG00000020072
AA Change: F131L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
69 |
175 |
1.5e-39 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
All alleles(21) : Gene trapped(21) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,583,926 (GRCm39) |
M105K |
probably benign |
Het |
| Acer2 |
T |
C |
4: 86,804,443 (GRCm39) |
F53L |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,252,668 (GRCm39) |
V307A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,726,370 (GRCm39) |
I193V |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,790,226 (GRCm39) |
T489M |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,357,733 (GRCm39) |
V133D |
unknown |
Het |
| Btla |
T |
C |
16: 45,070,950 (GRCm39) |
V304A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,334,007 (GRCm39) |
I878N |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
| Clcnka |
A |
T |
4: 141,117,463 (GRCm39) |
S445T |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,727 (GRCm39) |
V1187A |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,787,712 (GRCm39) |
V664A |
unknown |
Het |
| Crb2 |
C |
A |
2: 37,676,568 (GRCm39) |
A183E |
possibly damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,951 (GRCm39) |
V188I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,022,864 (GRCm39) |
N1043K |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,475,876 (GRCm39) |
R1376H |
probably benign |
Het |
| Foxj1 |
A |
G |
11: 116,222,675 (GRCm39) |
F376S |
probably damaging |
Het |
| Hsd17b11 |
A |
T |
5: 104,169,526 (GRCm39) |
I27N |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,251 (GRCm39) |
V528A |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,139,329 (GRCm39) |
V283A |
probably benign |
Het |
| Nup54 |
G |
A |
5: 92,582,176 (GRCm39) |
T45I |
unknown |
Het |
| Or4c100 |
G |
A |
2: 88,356,517 (GRCm39) |
V197I |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,588 (GRCm39) |
M1V |
probably null |
Het |
| Pdzph1 |
A |
G |
17: 59,239,476 (GRCm39) |
S951P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,118,314 (GRCm39) |
C558* |
probably null |
Het |
| Slc12a6 |
A |
T |
2: 112,186,899 (GRCm39) |
H966L |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,297,740 (GRCm39) |
V176D |
probably damaging |
Het |
| St6galnac3 |
G |
T |
3: 152,911,129 (GRCm39) |
H277Q |
probably damaging |
Het |
| Syde2 |
T |
A |
3: 145,707,727 (GRCm39) |
D822E |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,681 (GRCm39) |
E1853D |
probably benign |
Het |
| Tigd4 |
T |
C |
3: 84,501,971 (GRCm39) |
V296A |
possibly damaging |
Het |
| Tmed4 |
A |
T |
11: 6,224,242 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,651,826 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,201 (GRCm39) |
S1117P |
possibly damaging |
Het |
| Wasl |
A |
T |
6: 24,634,594 (GRCm39) |
Y103N |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,228 (GRCm39) |
D150G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,848 (GRCm39) |
V105D |
possibly 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 |
|
R0311:Pbld2
|
UTSW |
10 |
62,890,286 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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'- AGAATGCTTCTCTATCTCGTGC -3'
(R):5'- TGCTATAATTGTAATACAAGGAGCC -3'
Sequencing Primer
(F):5'- TGCTCACGCCTCTAAGGAAG -3'
(R):5'- CTCACAGTCAGCTATTGGATGGATC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation