Incidental Mutation 'R4946:Plcb1'
| ID |
383392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
042543-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R4946 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135345095 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 761
(I761V)
|
| 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: I761V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: I761V
| 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: I761V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: I761V
| 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 |
probably benign
Transcript: ENSMUST00000131552
AA Change: I761V
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: I761V
| 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: ENSMUST00000153402
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 110,086,474 (GRCm38) |
D98G |
probably damaging |
Het |
| Adgre1 |
G |
A |
17: 57,443,918 (GRCm38) |
V531I |
probably benign |
Het |
| Aldoart2 |
A |
G |
12: 55,566,016 (GRCm38) |
Q242R |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,941,940 (GRCm38) |
|
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,898,117 (GRCm38) |
A737V |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,253,838 (GRCm38) |
I789V |
probably benign |
Het |
| Ankrd13c |
T |
C |
3: 158,005,773 (GRCm38) |
V510A |
probably damaging |
Het |
| Arid1b |
T |
A |
17: 5,342,843 (GRCm38) |
M2216K |
probably damaging |
Het |
| Arrdc1 |
A |
G |
2: 24,925,848 (GRCm38) |
V380A |
probably benign |
Het |
| B3galt1 |
C |
A |
2: 68,118,569 (GRCm38) |
N209K |
possibly damaging |
Het |
| Cd300c2 |
A |
T |
11: 114,996,905 (GRCm38) |
C224S |
probably benign |
Het |
| Cdk4 |
T |
C |
10: 127,064,890 (GRCm38) |
|
probably null |
Het |
| Cdk5rap1 |
T |
C |
2: 154,368,874 (GRCm38) |
T115A |
possibly damaging |
Het |
| Clvs1 |
A |
T |
4: 9,281,831 (GRCm38) |
R92* |
probably null |
Het |
| Cnga1 |
A |
G |
5: 72,604,764 (GRCm38) |
V469A |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,196,653 (GRCm38) |
F16L |
probably benign |
Het |
| Dlg5 |
A |
T |
14: 24,154,361 (GRCm38) |
C1299S |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,931,560 (GRCm38) |
Y3690F |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,387,904 (GRCm38) |
V3170M |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,326,557 (GRCm38) |
M1971V |
probably damaging |
Het |
| Dpp8 |
T |
C |
9: 65,055,918 (GRCm38) |
Y485H |
probably benign |
Het |
| Dsc2 |
T |
C |
18: 20,050,157 (GRCm38) |
D68G |
probably damaging |
Het |
| Elavl1 |
A |
T |
8: 4,301,752 (GRCm38) |
D121E |
probably benign |
Het |
| Ermap |
A |
G |
4: 119,183,308 (GRCm38) |
V311A |
probably damaging |
Het |
| Fam102b |
A |
G |
3: 108,980,228 (GRCm38) |
V240A |
probably benign |
Het |
| Fbxw11 |
C |
T |
11: 32,739,226 (GRCm38) |
R437C |
probably damaging |
Het |
| Gas2l3 |
T |
C |
10: 89,413,772 (GRCm38) |
M495V |
probably benign |
Het |
| Hacd1 |
C |
T |
2: 14,045,137 (GRCm38) |
|
probably null |
Het |
| Itgav |
A |
G |
2: 83,788,983 (GRCm38) |
R596G |
probably benign |
Het |
| Kars |
T |
C |
8: 112,001,720 (GRCm38) |
H215R |
possibly damaging |
Het |
| Kif26a |
G |
A |
12: 112,177,794 (GRCm38) |
R1494H |
probably damaging |
Het |
| Klf12 |
G |
A |
14: 100,022,957 (GRCm38) |
S112L |
possibly damaging |
Het |
| Krt77 |
T |
C |
15: 101,869,563 (GRCm38) |
Y19C |
unknown |
Het |
| Lrrc4c |
A |
G |
2: 97,630,489 (GRCm38) |
T487A |
probably benign |
Het |
| Lrrn1 |
A |
G |
6: 107,568,890 (GRCm38) |
M550V |
probably benign |
Het |
| Lsr |
C |
A |
7: 30,958,209 (GRCm38) |
R442L |
probably benign |
Het |
| Lysmd2 |
A |
C |
9: 75,635,446 (GRCm38) |
T112P |
probably damaging |
Het |
| Mctp2 |
A |
T |
7: 72,259,269 (GRCm38) |
S99T |
probably benign |
Het |
| Mettl4 |
A |
G |
17: 94,740,532 (GRCm38) |
V227A |
probably benign |
Het |
| Mill2 |
T |
A |
7: 18,856,683 (GRCm38) |
|
probably null |
Het |
| Mpp3 |
T |
C |
11: 102,005,022 (GRCm38) |
N476D |
probably benign |
Het |
| Mtmr6 |
C |
T |
14: 60,280,189 (GRCm38) |
P83L |
possibly damaging |
Het |
| Myh3 |
T |
C |
11: 67,093,538 (GRCm38) |
I1067T |
probably benign |
Het |
| Myh9 |
C |
A |
15: 77,773,340 (GRCm38) |
Q1068H |
probably damaging |
Het |
| Narf |
T |
A |
11: 121,250,353 (GRCm38) |
H304Q |
possibly damaging |
Het |
| Nfatc2ip |
G |
T |
7: 126,396,612 (GRCm38) |
P35Q |
possibly damaging |
Het |
| Npas3 |
C |
A |
12: 54,065,835 (GRCm38) |
P426Q |
probably damaging |
Het |
| Olfr1289 |
T |
C |
2: 111,483,966 (GRCm38) |
Y207H |
possibly damaging |
Het |
| Olfr1508 |
G |
A |
14: 52,463,283 (GRCm38) |
T242I |
probably damaging |
Het |
| Olfr432 |
T |
G |
1: 174,050,834 (GRCm38) |
S154A |
possibly damaging |
Het |
| Olfr467 |
A |
G |
7: 107,815,382 (GRCm38) |
H266R |
possibly damaging |
Het |
| Olfr640 |
T |
A |
7: 104,022,012 (GRCm38) |
Q102L |
probably damaging |
Het |
| Pcdh10 |
A |
T |
3: 45,379,482 (GRCm38) |
E77V |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,356,185 (GRCm38) |
R2764Q |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 124,370,585 (GRCm38) |
D493G |
possibly damaging |
Het |
| Piezo2 |
G |
T |
18: 63,157,262 (GRCm38) |
T142N |
probably benign |
Het |
| Plekhg4 |
T |
G |
8: 105,381,996 (GRCm38) |
D1196E |
probably null |
Het |
| Pparg |
A |
G |
6: 115,451,028 (GRCm38) |
K159E |
probably damaging |
Het |
| Psmb1 |
A |
T |
17: 15,498,216 (GRCm38) |
M16K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,525,734 (GRCm38) |
I2139V |
probably benign |
Het |
| Ralgapb |
T |
A |
2: 158,440,967 (GRCm38) |
S239T |
probably damaging |
Het |
| Serpina11 |
A |
G |
12: 103,984,664 (GRCm38) |
V266A |
probably damaging |
Het |
| Sf3a2 |
C |
G |
10: 80,804,113 (GRCm38) |
|
probably benign |
Het |
| Smim18 |
T |
C |
8: 33,742,559 (GRCm38) |
T11A |
possibly damaging |
Het |
| Snx6 |
G |
A |
12: 54,770,743 (GRCm38) |
T7I |
probably damaging |
Het |
| Srcin1 |
T |
A |
11: 97,551,942 (GRCm38) |
D75V |
probably damaging |
Het |
| Srsf12 |
T |
A |
4: 33,231,174 (GRCm38) |
S223T |
probably damaging |
Het |
| Taf4b |
G |
T |
18: 14,813,542 (GRCm38) |
C474F |
probably damaging |
Het |
| Tango6 |
T |
A |
8: 106,718,090 (GRCm38) |
C542* |
probably null |
Het |
| Tbc1d24 |
A |
G |
17: 24,208,536 (GRCm38) |
S151P |
possibly damaging |
Het |
| Tssk6 |
T |
C |
8: 69,903,064 (GRCm38) |
S253P |
probably benign |
Het |
| Ttc39c |
G |
A |
18: 12,724,942 (GRCm38) |
W300* |
probably null |
Het |
| Ttc6 |
T |
A |
12: 57,643,140 (GRCm38) |
W539R |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,918,709 (GRCm38) |
E3999* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,752,426 (GRCm38) |
T22708A |
probably damaging |
Het |
| Vill |
T |
G |
9: 119,068,440 (GRCm38) |
L261R |
probably damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,432,174 (GRCm38) |
S162P |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,956,094 (GRCm38) |
I139T |
probably benign |
Het |
|
| Other mutations in Plcb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00510:Plcb1
|
APN |
2 |
135,251,756 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
IGL01152:Plcb1
|
APN |
2 |
134,813,659 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01945:Plcb1
|
APN |
2 |
135,220,791 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01999:Plcb1
|
APN |
2 |
135,346,318 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02109:Plcb1
|
APN |
2 |
134,786,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02153:Plcb1
|
APN |
2 |
135,387,853 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02207:Plcb1
|
APN |
2 |
135,387,171 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02566:Plcb1
|
APN |
2 |
135,472,263 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02590:Plcb1
|
APN |
2 |
135,294,864 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02640:Plcb1
|
APN |
2 |
135,220,859 (GRCm38) |
splice site |
probably benign |
|
|
IGL02926:Plcb1
|
APN |
2 |
135,364,762 (GRCm38) |
splice site |
probably benign |
|
|
IGL03071:Plcb1
|
APN |
2 |
135,387,802 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03236:Plcb1
|
APN |
2 |
135,346,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03252:Plcb1
|
APN |
2 |
135,370,428 (GRCm38) |
missense |
probably benign |
|
|
IGL03387:Plcb1
|
APN |
2 |
134,813,686 (GRCm38) |
splice site |
probably benign |
|
|
BB001:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
BB011:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0024:Plcb1
|
UTSW |
2 |
135,362,425 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0024:Plcb1
|
UTSW |
2 |
135,362,425 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0053:Plcb1
|
UTSW |
2 |
135,294,915 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0053:Plcb1
|
UTSW |
2 |
135,294,915 (GRCm38) |
missense |
probably benign |
0.33 |
|
R0308:Plcb1
|
UTSW |
2 |
134,813,614 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0415:Plcb1
|
UTSW |
2 |
135,337,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0624:Plcb1
|
UTSW |
2 |
135,294,911 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R0898:Plcb1
|
UTSW |
2 |
135,387,143 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R1071:Plcb1
|
UTSW |
2 |
135,325,657 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1615:Plcb1
|
UTSW |
2 |
135,362,444 (GRCm38) |
splice site |
probably benign |
|
|
R1617:Plcb1
|
UTSW |
2 |
135,337,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1785:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R1866:Plcb1
|
UTSW |
2 |
135,344,173 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1869:Plcb1
|
UTSW |
2 |
135,311,014 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1902:Plcb1
|
UTSW |
2 |
134,813,613 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1938:Plcb1
|
UTSW |
2 |
135,386,302 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2016:Plcb1
|
UTSW |
2 |
135,362,420 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2017:Plcb1
|
UTSW |
2 |
135,362,420 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2131:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2132:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2133:Plcb1
|
UTSW |
2 |
135,325,667 (GRCm38) |
nonsense |
probably null |
|
|
R2164:Plcb1
|
UTSW |
2 |
135,346,330 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R2419:Plcb1
|
UTSW |
2 |
135,262,100 (GRCm38) |
splice site |
probably benign |
|
|
R2429:Plcb1
|
UTSW |
2 |
135,337,442 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2508:Plcb1
|
UTSW |
2 |
135,260,508 (GRCm38) |
missense |
probably benign |
0.27 |
|
R3161:Plcb1
|
UTSW |
2 |
135,335,482 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3870:Plcb1
|
UTSW |
2 |
135,325,671 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4191:Plcb1
|
UTSW |
2 |
135,345,090 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4239:Plcb1
|
UTSW |
2 |
135,344,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4552:Plcb1
|
UTSW |
2 |
135,335,493 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4553:Plcb1
|
UTSW |
2 |
135,335,493 (GRCm38) |
missense |
probably benign |
0.44 |
|
R4720:Plcb1
|
UTSW |
2 |
135,251,747 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5012:Plcb1
|
UTSW |
2 |
135,333,400 (GRCm38) |
missense |
probably null |
0.97 |
|
R5151:Plcb1
|
UTSW |
2 |
135,262,245 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5320:Plcb1
|
UTSW |
2 |
135,252,776 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R5415:Plcb1
|
UTSW |
2 |
135,347,402 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R5523:Plcb1
|
UTSW |
2 |
135,260,566 (GRCm38) |
missense |
probably benign |
0.08 |
|
R5568:Plcb1
|
UTSW |
2 |
135,370,593 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5688:Plcb1
|
UTSW |
2 |
135,335,480 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5809:Plcb1
|
UTSW |
2 |
135,262,244 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6237:Plcb1
|
UTSW |
2 |
135,370,566 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6315:Plcb1
|
UTSW |
2 |
135,346,341 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6478:Plcb1
|
UTSW |
2 |
135,335,451 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6531:Plcb1
|
UTSW |
2 |
135,325,802 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6683:Plcb1
|
UTSW |
2 |
134,786,593 (GRCm38) |
missense |
probably benign |
0.32 |
|
R6760:Plcb1
|
UTSW |
2 |
135,472,060 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R6947:Plcb1
|
UTSW |
2 |
135,386,155 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6976:Plcb1
|
UTSW |
2 |
135,262,239 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R7379:Plcb1
|
UTSW |
2 |
135,370,510 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7473:Plcb1
|
UTSW |
2 |
135,344,276 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7492:Plcb1
|
UTSW |
2 |
135,251,764 (GRCm38) |
nonsense |
probably null |
|
|
R7498:Plcb1
|
UTSW |
2 |
135,262,234 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7498:Plcb1
|
UTSW |
2 |
135,262,233 (GRCm38) |
nonsense |
probably null |
|
|
R7777:Plcb1
|
UTSW |
2 |
135,220,757 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7924:Plcb1
|
UTSW |
2 |
135,359,693 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8061:Plcb1
|
UTSW |
2 |
135,346,396 (GRCm38) |
missense |
probably benign |
|
|
R8099:Plcb1
|
UTSW |
2 |
135,251,734 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R8299:Plcb1
|
UTSW |
2 |
135,335,476 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8394:Plcb1
|
UTSW |
2 |
135,317,790 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8439:Plcb1
|
UTSW |
2 |
135,250,052 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8549:Plcb1
|
UTSW |
2 |
135,364,933 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8693:Plcb1
|
UTSW |
2 |
135,252,776 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8750:Plcb1
|
UTSW |
2 |
135,335,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8817:Plcb1
|
UTSW |
2 |
135,333,509 (GRCm38) |
intron |
probably benign |
|
|
R8950:Plcb1
|
UTSW |
2 |
135,337,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9146:Plcb1
|
UTSW |
2 |
135,340,695 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9301:Plcb1
|
UTSW |
2 |
135,325,690 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R9311:Plcb1
|
UTSW |
2 |
135,347,465 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9459:Plcb1
|
UTSW |
2 |
135,322,638 (GRCm38) |
missense |
probably benign |
0.03 |
|
S24628:Plcb1
|
UTSW |
2 |
135,337,499 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Plcb1
|
UTSW |
2 |
135,345,054 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
Z1088:Plcb1
|
UTSW |
2 |
135,220,846 (GRCm38) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCTTACAACACAGAGAGGCAAC -3'
(R):5'- ACTTTTACAGCACAGCAACATG -3'
Sequencing Primer
(F):5'- CAGGGCCAGCTTTTCTAA -3'
(R):5'- TTTTACAGCACAGCAACATGACAAAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation