Incidental Mutation 'R2017:Plcb1'
| ID |
223161 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
040026-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R2017 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135362420 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 898
(I898N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070724
AA Change: I898N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: I898N
| 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 |
possibly damaging
Transcript: ENSMUST00000110116
AA Change: I898N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: I898N
| 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 |
possibly damaging
Transcript: ENSMUST00000131552
AA Change: I898N
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: I898N
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025C18Rik |
T |
C |
2: 165,079,026 (GRCm38) |
D29G |
unknown |
Het |
| Abca13 |
A |
T |
11: 9,290,619 (GRCm38) |
L827F |
probably damaging |
Het |
| Abcc1 |
T |
A |
16: 14,461,204 (GRCm38) |
V1126E |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 86,563,988 (GRCm38) |
L41S |
probably damaging |
Het |
| Adgrg7 |
T |
C |
16: 56,732,806 (GRCm38) |
T643A |
probably benign |
Het |
| Angpt2 |
T |
C |
8: 18,705,731 (GRCm38) |
N240S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,313,602 (GRCm38) |
T1150A |
probably benign |
Het |
| Apob |
G |
A |
12: 8,007,751 (GRCm38) |
D2078N |
possibly damaging |
Het |
| Apool |
T |
A |
X: 112,364,561 (GRCm38) |
S234T |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,690,211 (GRCm38) |
P751S |
probably benign |
Het |
| Astn2 |
G |
A |
4: 65,540,941 (GRCm38) |
T1079I |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,540,334 (GRCm38) |
N989S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,836,621 (GRCm38) |
D189G |
probably damaging |
Het |
| Bcas1 |
A |
C |
2: 170,348,161 (GRCm38) |
|
probably null |
Het |
| Btk |
T |
C |
X: 134,547,601 (GRCm38) |
D355G |
probably benign |
Het |
| C2cd4c |
A |
G |
10: 79,612,989 (GRCm38) |
V108A |
possibly damaging |
Het |
| Cbfa2t2 |
T |
C |
2: 154,517,807 (GRCm38) |
L264P |
probably damaging |
Het |
| Cd22 |
A |
T |
7: 30,872,780 (GRCm38) |
L423Q |
probably damaging |
Het |
| Cep128 |
T |
C |
12: 91,366,464 (GRCm38) |
D9G |
probably damaging |
Het |
| Cer1 |
A |
T |
4: 82,882,883 (GRCm38) |
V181D |
probably damaging |
Het |
| Ciita |
T |
C |
16: 10,511,676 (GRCm38) |
L584P |
probably damaging |
Het |
| Cmss1 |
T |
C |
16: 57,316,278 (GRCm38) |
D77G |
probably damaging |
Het |
| Col4a2 |
T |
C |
8: 11,445,086 (GRCm38) |
F1515L |
probably benign |
Het |
| Dcaf1 |
A |
G |
9: 106,847,923 (GRCm38) |
E536G |
probably damaging |
Het |
| Dcaf1 |
T |
A |
9: 106,839,088 (GRCm38) |
D360E |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,437,070 (GRCm38) |
I3370F |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,266,196 (GRCm38) |
V119A |
possibly damaging |
Het |
| Edn3 |
A |
G |
2: 174,778,662 (GRCm38) |
E103G |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,921,613 (GRCm38) |
R376L |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,673,201 (GRCm38) |
M4V |
probably benign |
Het |
| Emilin3 |
G |
A |
2: 160,909,610 (GRCm38) |
R170C |
possibly damaging |
Het |
| Epx |
T |
C |
11: 87,874,337 (GRCm38) |
D178G |
probably damaging |
Het |
| Fam208b |
A |
T |
13: 3,576,770 (GRCm38) |
I1060K |
probably benign |
Het |
| Fam49a |
T |
A |
12: 12,362,361 (GRCm38) |
V208D |
probably damaging |
Het |
| Fkbp10 |
G |
A |
11: 100,421,673 (GRCm38) |
V252I |
possibly damaging |
Het |
| Flnc |
G |
A |
6: 29,443,797 (GRCm38) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,982,732 (GRCm38) |
K3132E |
possibly damaging |
Het |
| Gla |
C |
T |
X: 134,596,322 (GRCm38) |
A39T |
probably damaging |
Het |
| H2-Ke6 |
A |
T |
17: 34,026,213 (GRCm38) |
M259K |
probably damaging |
Het |
| Hivep2 |
C |
T |
10: 14,130,757 (GRCm38) |
T1033M |
probably damaging |
Het |
| Ikzf4 |
C |
T |
10: 128,634,157 (GRCm38) |
G498D |
probably damaging |
Het |
| Impg1 |
T |
C |
9: 80,440,667 (GRCm38) |
Y95C |
probably damaging |
Het |
| Ino80c |
T |
A |
18: 24,111,753 (GRCm38) |
K136* |
probably null |
Het |
| Iqsec1 |
A |
C |
6: 90,689,930 (GRCm38) |
H508Q |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,637,962 (GRCm38) |
H305R |
possibly damaging |
Het |
| Jup |
T |
A |
11: 100,386,341 (GRCm38) |
T14S |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 52,725,906 (GRCm38) |
74 |
probably benign |
Het |
| Klf12 |
T |
C |
14: 100,022,637 (GRCm38) |
R219G |
possibly damaging |
Het |
| Klhl42 |
G |
T |
6: 147,107,793 (GRCm38) |
V377L |
probably benign |
Het |
| Large1 |
A |
G |
8: 72,852,197 (GRCm38) |
F460S |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,048,977 (GRCm38) |
D402V |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,501,125 (GRCm38) |
Y1158F |
probably benign |
Het |
| Map2 |
T |
A |
1: 66,412,799 (GRCm38) |
S365T |
probably damaging |
Het |
| Mapk8ip1 |
A |
G |
2: 92,391,034 (GRCm38) |
|
probably null |
Het |
| Med26 |
A |
G |
8: 72,496,947 (GRCm38) |
S103P |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,751,303 (GRCm38) |
S394P |
possibly damaging |
Het |
| Nle1 |
G |
T |
11: 82,905,547 (GRCm38) |
P166Q |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,758,882 (GRCm38) |
I254T |
probably benign |
Het |
| Olfr1288 |
G |
T |
2: 111,479,187 (GRCm38) |
M134I |
probably benign |
Het |
| Olfr371 |
T |
C |
8: 85,230,744 (GRCm38) |
L83P |
possibly damaging |
Het |
| Olfr406 |
T |
A |
11: 74,270,333 (GRCm38) |
W315R |
probably benign |
Het |
| Olfr592 |
T |
C |
7: 103,186,930 (GRCm38) |
F110L |
probably benign |
Het |
| Pacs2 |
A |
T |
12: 113,062,457 (GRCm38) |
N545Y |
probably damaging |
Het |
| Palld |
T |
C |
8: 61,684,765 (GRCm38) |
E652G |
probably damaging |
Het |
| Pgm5 |
T |
C |
19: 24,824,312 (GRCm38) |
N184S |
probably benign |
Het |
| Pitpnm1 |
T |
C |
19: 4,111,873 (GRCm38) |
V955A |
probably benign |
Het |
| Pramef12 |
A |
G |
4: 144,394,674 (GRCm38) |
V260A |
possibly damaging |
Het |
| Prr36 |
T |
A |
8: 4,215,205 (GRCm38) |
T182S |
probably benign |
Het |
| Prss35 |
A |
G |
9: 86,755,512 (GRCm38) |
S112G |
probably benign |
Het |
| Ptprj |
C |
T |
2: 90,464,614 (GRCm38) |
V417M |
probably damaging |
Het |
| Ptprm |
G |
T |
17: 66,957,153 (GRCm38) |
|
probably null |
Het |
| Rasgrp2 |
T |
C |
19: 6,413,165 (GRCm38) |
V498A |
probably benign |
Het |
| Rfx6 |
A |
G |
10: 51,721,604 (GRCm38) |
N513S |
possibly damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,210,471 (GRCm38) |
I693T |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,515,321 (GRCm38) |
T1143A |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 187,048,453 (GRCm38) |
S366P |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,070,568 (GRCm38) |
L2406P |
probably benign |
Het |
| Tgfb2 |
A |
T |
1: 186,630,765 (GRCm38) |
Y287* |
probably null |
Het |
| Trip11 |
A |
T |
12: 101,885,360 (GRCm38) |
V815E |
probably benign |
Het |
| Trp53bp2 |
G |
T |
1: 182,449,015 (GRCm38) |
V854L |
probably benign |
Het |
| Ttc30a1 |
A |
G |
2: 75,981,457 (GRCm38) |
L94P |
probably benign |
Het |
| Vmn1r78 |
T |
C |
7: 12,153,343 (GRCm38) |
S294P |
possibly damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,446,713 (GRCm38) |
K678R |
probably benign |
Het |
| Yeats2 |
T |
A |
16: 20,159,181 (GRCm38) |
N138K |
probably benign |
Het |
| Zufsp |
A |
T |
10: 33,927,464 (GRCm38) |
N541K |
possibly damaging |
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 |
|
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 |
|
R4946:Plcb1
|
UTSW |
2 |
135,345,095 (GRCm38) |
missense |
probably benign |
0.01 |
|
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'- CCTGGAGATGAAACCCAGATGG -3'
(R):5'- TTACATATCCCCAATCTGCAGC -3'
Sequencing Primer
(F):5'- AGATGGCCAAGTGCTCTTC -3'
(R):5'- CGTTTCAGTCATGGTAAACACCAGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation