Incidental Mutation 'R0308:Plcb1'
| ID |
24947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
038518-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R0308 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 134655534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 38
(V38G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070724
AA Change: V38G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: V38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
2.2e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1.3e-7 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
997 |
1155 |
1.9e-64 |
PFAM |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110116
AA Change: V38G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: V38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
4.1e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1.1e-9 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
1003 |
1176 |
2.9e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131552
AA Change: V38G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: V38G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_like
|
224 |
315 |
3.9e-26 |
PFAM |
|
PLCXc
|
316 |
467 |
2.85e-74 |
SMART |
|
low complexity region
|
491 |
501 |
N/A |
INTRINSIC |
|
PLCYc
|
540 |
656 |
2e-69 |
SMART |
|
C2
|
677 |
776 |
1.55e-12 |
SMART |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
Pfam:DUF1154
|
903 |
946 |
1e-9 |
PFAM |
|
low complexity region
|
967 |
984 |
N/A |
INTRINSIC |
|
Pfam:PLC-beta_C
|
1003 |
1148 |
8e-51 |
PFAM |
|
low complexity region
|
1157 |
1168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202531
|
| Meta Mutation Damage Score |
0.0752 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.1%
- 20x: 89.5%
|
| Validation Efficiency |
100% (82/82) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit spontaneous seizures and high mortality around 3 weeks of age. Mutant males show exhibit sperm with a reduced acrosome reaction rate and fertilizing capacity in vitro and decreased fertility in vivo. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,450,989 (GRCm39) |
D65V |
probably damaging |
Het |
| 4933407L21Rik |
A |
T |
1: 85,859,007 (GRCm39) |
|
probably benign |
Het |
| Abcc12 |
C |
T |
8: 87,284,381 (GRCm39) |
|
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,311,646 (GRCm39) |
E1301G |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,863 (GRCm39) |
N230Y |
probably damaging |
Het |
| Anapc15-ps |
T |
A |
10: 95,508,954 (GRCm39) |
M109L |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,742,141 (GRCm39) |
I472V |
possibly damaging |
Het |
| Arhgef26 |
C |
A |
3: 62,247,820 (GRCm39) |
D301E |
probably benign |
Het |
| Armc10 |
G |
A |
5: 21,852,295 (GRCm39) |
|
probably benign |
Het |
| Atm |
T |
C |
9: 53,365,773 (GRCm39) |
|
probably null |
Het |
| Atp5f1b |
T |
C |
10: 127,921,908 (GRCm39) |
V265A |
probably benign |
Het |
| Atp8b1 |
G |
T |
18: 64,678,315 (GRCm39) |
C860* |
probably null |
Het |
| Atrnl1 |
T |
G |
19: 57,741,720 (GRCm39) |
S1160A |
probably benign |
Het |
| Bmal1 |
A |
T |
7: 112,890,743 (GRCm39) |
I179F |
probably damaging |
Het |
| Cep55 |
A |
G |
19: 38,048,659 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cfap54 |
C |
A |
10: 92,721,226 (GRCm39) |
D2502Y |
unknown |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Clptm1l |
A |
G |
13: 73,759,786 (GRCm39) |
D282G |
possibly damaging |
Het |
| Csrp1 |
C |
A |
1: 135,673,024 (GRCm39) |
T47N |
probably damaging |
Het |
| Cyp2c40 |
T |
A |
19: 39,766,432 (GRCm39) |
I388F |
probably damaging |
Het |
| Dars1 |
C |
T |
1: 128,291,996 (GRCm39) |
R494H |
probably damaging |
Het |
| Dna2 |
T |
C |
10: 62,792,753 (GRCm39) |
V256A |
probably damaging |
Het |
| Dock7 |
T |
C |
4: 98,873,051 (GRCm39) |
T1132A |
probably benign |
Het |
| Dpcd |
T |
G |
19: 45,565,445 (GRCm39) |
F140V |
probably damaging |
Het |
| Elk3 |
A |
T |
10: 93,101,067 (GRCm39) |
M228K |
probably benign |
Het |
| Erich6 |
A |
G |
3: 58,543,525 (GRCm39) |
F182L |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,712,904 (GRCm39) |
|
probably benign |
Het |
| Fryl |
A |
T |
5: 73,198,947 (GRCm39) |
|
probably benign |
Het |
| Fzd9 |
A |
T |
5: 135,278,260 (GRCm39) |
C542S |
probably damaging |
Het |
| Gba1 |
A |
G |
3: 89,115,671 (GRCm39) |
T460A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,769,792 (GRCm39) |
A587T |
probably benign |
Het |
| Gm11011 |
C |
T |
2: 169,424,614 (GRCm39) |
|
probably benign |
Het |
| Gmppb |
A |
G |
9: 107,927,033 (GRCm39) |
E68G |
probably benign |
Het |
| Gpld1 |
A |
G |
13: 25,146,818 (GRCm39) |
N260S |
possibly damaging |
Het |
| Hipk3 |
G |
A |
2: 104,263,552 (GRCm39) |
S900L |
probably damaging |
Het |
| Idi2l |
T |
G |
13: 8,990,877 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
A |
T |
X: 55,526,715 (GRCm39) |
M215L |
possibly damaging |
Het |
| Irx6 |
T |
A |
8: 93,403,659 (GRCm39) |
L128Q |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,558,780 (GRCm39) |
S373P |
probably damaging |
Het |
| Jak1 |
T |
C |
4: 101,011,732 (GRCm39) |
|
probably null |
Het |
| Jak2 |
C |
T |
19: 29,289,157 (GRCm39) |
T1103I |
probably benign |
Het |
| Katnal1 |
A |
T |
5: 148,815,734 (GRCm39) |
V401D |
possibly damaging |
Het |
| Krbox5 |
A |
G |
13: 67,991,232 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,313,326 (GRCm39) |
|
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,710,738 (GRCm39) |
H7R |
probably benign |
Het |
| Mrgprx3-ps |
A |
G |
7: 46,959,766 (GRCm39) |
V75A |
probably benign |
Het |
| Nol6 |
C |
T |
4: 41,123,584 (GRCm39) |
A55T |
probably benign |
Het |
| Opa1 |
G |
A |
16: 29,440,349 (GRCm39) |
R818Q |
probably damaging |
Het |
| Opn4 |
T |
C |
14: 34,319,081 (GRCm39) |
Y168C |
possibly damaging |
Het |
| Or8b35 |
A |
G |
9: 37,904,141 (GRCm39) |
I118V |
probably benign |
Het |
| Phf21a |
T |
C |
2: 92,161,122 (GRCm39) |
V330A |
possibly damaging |
Het |
| Phykpl |
A |
G |
11: 51,484,423 (GRCm39) |
|
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,214,703 (GRCm39) |
T593S |
probably benign |
Het |
| Poll |
A |
T |
19: 45,544,404 (GRCm39) |
I339N |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,700,890 (GRCm39) |
I1796V |
probably benign |
Het |
| Rnf103 |
G |
A |
6: 71,486,686 (GRCm39) |
R439H |
probably damaging |
Het |
| Rrn3 |
G |
A |
16: 13,617,746 (GRCm39) |
|
probably benign |
Het |
| Sec14l4 |
G |
A |
11: 3,991,726 (GRCm39) |
|
probably benign |
Het |
| Sec23a |
A |
C |
12: 59,053,985 (GRCm39) |
Y4* |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,040,265 (GRCm39) |
|
probably null |
Het |
| Serpinb6b |
A |
T |
13: 33,162,220 (GRCm39) |
N221Y |
probably benign |
Het |
| Slc6a2 |
A |
G |
8: 93,687,988 (GRCm39) |
E38G |
possibly damaging |
Het |
| Smap1 |
A |
T |
1: 23,888,423 (GRCm39) |
L196I |
probably damaging |
Het |
| Sorbs2 |
C |
T |
8: 46,248,167 (GRCm39) |
Q473* |
probably null |
Het |
| Sphkap |
C |
A |
1: 83,254,690 (GRCm39) |
V1020F |
probably damaging |
Het |
| Srfbp1 |
T |
C |
18: 52,621,614 (GRCm39) |
V225A |
probably benign |
Het |
| Srprb |
G |
A |
9: 103,079,204 (GRCm39) |
P728S |
possibly damaging |
Het |
| Tarm1 |
T |
C |
7: 3,545,187 (GRCm39) |
|
probably benign |
Het |
| Tcp1 |
T |
A |
17: 13,139,306 (GRCm39) |
I162N |
probably benign |
Het |
| Tmem237 |
C |
A |
1: 59,146,676 (GRCm39) |
A292S |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tnpo1 |
A |
G |
13: 98,983,011 (GRCm39) |
F884L |
probably damaging |
Het |
| Trim7 |
A |
G |
11: 48,740,328 (GRCm39) |
T142A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,616,024 (GRCm39) |
I14894F |
probably damaging |
Het |
| Tubgcp6 |
T |
C |
15: 89,006,639 (GRCm39) |
R128G |
possibly damaging |
Het |
| Ube2d2b |
A |
G |
5: 107,978,774 (GRCm39) |
T142A |
possibly damaging |
Het |
| Unc13c |
G |
T |
9: 73,388,400 (GRCm39) |
L2129I |
probably benign |
Het |
| Ushbp1 |
T |
C |
8: 71,843,697 (GRCm39) |
D247G |
probably damaging |
Het |
| Usp43 |
G |
A |
11: 67,770,966 (GRCm39) |
A556V |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,638 (GRCm39) |
H440L |
probably benign |
Het |
| Zfp518b |
C |
T |
5: 38,830,113 (GRCm39) |
E631K |
possibly damaging |
Het |
|
| Other mutations in Plcb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Plcb1
|
APN |
2 |
135,093,676 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01152:Plcb1
|
APN |
2 |
134,655,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01945:Plcb1
|
APN |
2 |
135,062,711 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01999:Plcb1
|
APN |
2 |
135,188,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02109:Plcb1
|
APN |
2 |
134,628,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plcb1
|
APN |
2 |
135,229,773 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02207:Plcb1
|
APN |
2 |
135,229,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02566:Plcb1
|
APN |
2 |
135,314,183 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02590:Plcb1
|
APN |
2 |
135,136,784 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02640:Plcb1
|
APN |
2 |
135,062,779 (GRCm39) |
splice site |
probably benign |
|
|
IGL02926:Plcb1
|
APN |
2 |
135,206,682 (GRCm39) |
splice site |
probably benign |
|
|
IGL03071:Plcb1
|
APN |
2 |
135,229,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03236:Plcb1
|
APN |
2 |
135,188,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03252:Plcb1
|
APN |
2 |
135,212,348 (GRCm39) |
missense |
probably benign |
|
|
IGL03387:Plcb1
|
APN |
2 |
134,655,606 (GRCm39) |
splice site |
probably benign |
|
|
BB001:Plcb1
|
UTSW |
2 |
135,201,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
BB011:Plcb1
|
UTSW |
2 |
135,201,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0024:Plcb1
|
UTSW |
2 |
135,204,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0024:Plcb1
|
UTSW |
2 |
135,204,345 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0053:Plcb1
|
UTSW |
2 |
135,136,835 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0053:Plcb1
|
UTSW |
2 |
135,136,835 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0415:Plcb1
|
UTSW |
2 |
135,179,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0624:Plcb1
|
UTSW |
2 |
135,136,831 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0898:Plcb1
|
UTSW |
2 |
135,229,063 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1071:Plcb1
|
UTSW |
2 |
135,167,577 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1615:Plcb1
|
UTSW |
2 |
135,204,364 (GRCm39) |
splice site |
probably benign |
|
|
R1617:Plcb1
|
UTSW |
2 |
135,179,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1785:Plcb1
|
UTSW |
2 |
135,167,587 (GRCm39) |
nonsense |
probably null |
|
|
R1866:Plcb1
|
UTSW |
2 |
135,186,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1869:Plcb1
|
UTSW |
2 |
135,152,934 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1902:Plcb1
|
UTSW |
2 |
134,655,533 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1938:Plcb1
|
UTSW |
2 |
135,228,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2016:Plcb1
|
UTSW |
2 |
135,204,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2017:Plcb1
|
UTSW |
2 |
135,204,340 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2131:Plcb1
|
UTSW |
2 |
135,167,587 (GRCm39) |
nonsense |
probably null |
|
|
R2132:Plcb1
|
UTSW |
2 |
135,167,587 (GRCm39) |
nonsense |
probably null |
|
|
R2133:Plcb1
|
UTSW |
2 |
135,167,587 (GRCm39) |
nonsense |
probably null |
|
|
R2164:Plcb1
|
UTSW |
2 |
135,188,250 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2419:Plcb1
|
UTSW |
2 |
135,104,020 (GRCm39) |
splice site |
probably benign |
|
|
R2429:Plcb1
|
UTSW |
2 |
135,179,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2508:Plcb1
|
UTSW |
2 |
135,102,428 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3161:Plcb1
|
UTSW |
2 |
135,177,402 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3870:Plcb1
|
UTSW |
2 |
135,167,591 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4191:Plcb1
|
UTSW |
2 |
135,187,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4239:Plcb1
|
UTSW |
2 |
135,186,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4552:Plcb1
|
UTSW |
2 |
135,177,413 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4553:Plcb1
|
UTSW |
2 |
135,177,413 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4720:Plcb1
|
UTSW |
2 |
135,093,667 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4946:Plcb1
|
UTSW |
2 |
135,187,015 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5012:Plcb1
|
UTSW |
2 |
135,175,320 (GRCm39) |
missense |
probably null |
0.97 |
|
R5151:Plcb1
|
UTSW |
2 |
135,104,165 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5320:Plcb1
|
UTSW |
2 |
135,094,696 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5415:Plcb1
|
UTSW |
2 |
135,189,322 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5523:Plcb1
|
UTSW |
2 |
135,102,486 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5568:Plcb1
|
UTSW |
2 |
135,212,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5688:Plcb1
|
UTSW |
2 |
135,177,400 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5809:Plcb1
|
UTSW |
2 |
135,104,164 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6237:Plcb1
|
UTSW |
2 |
135,212,486 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6315:Plcb1
|
UTSW |
2 |
135,188,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6478:Plcb1
|
UTSW |
2 |
135,177,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6531:Plcb1
|
UTSW |
2 |
135,167,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6683:Plcb1
|
UTSW |
2 |
134,628,513 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6760:Plcb1
|
UTSW |
2 |
135,313,980 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6947:Plcb1
|
UTSW |
2 |
135,228,075 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6976:Plcb1
|
UTSW |
2 |
135,104,159 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7379:Plcb1
|
UTSW |
2 |
135,212,430 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7473:Plcb1
|
UTSW |
2 |
135,186,196 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Plcb1
|
UTSW |
2 |
135,093,684 (GRCm39) |
nonsense |
probably null |
|
|
R7498:Plcb1
|
UTSW |
2 |
135,104,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7498:Plcb1
|
UTSW |
2 |
135,104,153 (GRCm39) |
nonsense |
probably null |
|
|
R7777:Plcb1
|
UTSW |
2 |
135,062,677 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7924:Plcb1
|
UTSW |
2 |
135,201,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8061:Plcb1
|
UTSW |
2 |
135,188,316 (GRCm39) |
missense |
probably benign |
|
|
R8099:Plcb1
|
UTSW |
2 |
135,093,654 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8299:Plcb1
|
UTSW |
2 |
135,177,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Plcb1
|
UTSW |
2 |
135,159,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Plcb1
|
UTSW |
2 |
135,091,972 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8549:Plcb1
|
UTSW |
2 |
135,206,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8693:Plcb1
|
UTSW |
2 |
135,094,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8750:Plcb1
|
UTSW |
2 |
135,177,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8817:Plcb1
|
UTSW |
2 |
135,175,429 (GRCm39) |
intron |
probably benign |
|
|
R8950:Plcb1
|
UTSW |
2 |
135,179,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9146:Plcb1
|
UTSW |
2 |
135,182,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9301:Plcb1
|
UTSW |
2 |
135,167,610 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9311:Plcb1
|
UTSW |
2 |
135,189,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9459:Plcb1
|
UTSW |
2 |
135,164,558 (GRCm39) |
missense |
probably benign |
0.03 |
|
S24628:Plcb1
|
UTSW |
2 |
135,179,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Plcb1
|
UTSW |
2 |
135,186,974 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1088:Plcb1
|
UTSW |
2 |
135,062,766 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTGTCAGTTCTGTGTCTGATAACCT -3'
(R):5'- GCCCTTAGCCTGAGTCTCTGGAAGTA -3'
Sequencing Primer
(F):5'- ctgtctattaccatacttgccttc -3'
(R):5'- CCTGAGTCTCTGGAAGTAGAATC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation