Incidental Mutation 'R3734:Pbld2'
| ID |
270012 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pbld2
|
| Ensembl Gene |
ENSMUSG00000020072 |
| Gene Name |
phenazine biosynthesis-like protein domain containing 2 |
| Synonyms |
3110049J23Rik |
| MMRRC Submission |
040721-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62860094-62894592 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62907244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 161
(L161P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136589
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020266]
[ENSMUST00000178684]
|
| AlphaFold |
Q9CXN7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020266
AA Change: L162P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020266
Gene: ENSMUSG00000112129
AA Change: L162P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
8 |
285 |
7e-68 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178684
AA Change: L161P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136589
Gene: ENSMUSG00000112129
AA Change: L161P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PhzC-PhzF
|
8 |
284 |
2.6e-65 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218358
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000219829
AA Change: L54P
|
| Meta Mutation Damage Score |
0.9352 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
95% (41/43) |
| 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 |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
| Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
| Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
| Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
| Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
| Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
| Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
| Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
| Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
| Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
| Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
| Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
| Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
| Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
| Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
| Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
| Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
| Nipal3 |
T |
C |
4: 135,191,157 (GRCm39) |
T325A |
probably damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
| Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
| Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
| Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
| Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
| Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
| Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
probably benign |
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 |
|
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'- GGATGTCAGAGAGCAGCTTGTG -3'
(R):5'- AGAGCCTGTCCTGACATCTC -3'
Sequencing Primer
(F):5'- CAGAGAGCAGCTTGTGTTTGG -3'
(R):5'- CAGCCTGATCTACACAGTGAGTTC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation