Incidental Mutation 'R1866:Plcb1'
| ID |
208698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
039889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R1866 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135186093 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 687
(F687L)
|
| 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: F687L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: F687L
| 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: F687L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: F687L
| 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: F687L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: F687L
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.3%
- 20x: 92.6%
|
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apba1 |
A |
T |
19: 23,870,195 (GRCm39) |
E9V |
probably benign |
Het |
| Armc8 |
T |
A |
9: 99,418,333 (GRCm39) |
T32S |
probably benign |
Het |
| Atr |
T |
A |
9: 95,752,658 (GRCm39) |
|
probably null |
Het |
| Blm |
A |
G |
7: 80,143,862 (GRCm39) |
L859P |
probably benign |
Het |
| Cacna2d3 |
A |
T |
14: 28,691,171 (GRCm39) |
F51L |
probably damaging |
Het |
| Cdcp2 |
A |
G |
4: 106,964,197 (GRCm39) |
N349S |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,457,124 (GRCm39) |
H442Y |
possibly damaging |
Het |
| Chrm3 |
A |
G |
13: 9,928,517 (GRCm39) |
L173P |
probably damaging |
Het |
| Cpb1 |
C |
G |
3: 20,317,920 (GRCm39) |
M201I |
probably benign |
Het |
| Dgcr8 |
A |
T |
16: 18,076,178 (GRCm39) |
N2K |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,528,079 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,077,071 (GRCm39) |
Q2398L |
probably benign |
Het |
| Dpep2 |
A |
T |
8: 106,716,080 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
C |
A |
2: 118,303,142 (GRCm39) |
T1504K |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,828,896 (GRCm39) |
V496A |
probably damaging |
Het |
| Fam174a |
A |
C |
1: 95,241,620 (GRCm39) |
S27R |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,182,840 (GRCm39) |
Q1339L |
probably benign |
Het |
| Fkbpl |
T |
A |
17: 34,864,797 (GRCm39) |
D188E |
possibly damaging |
Het |
| Focad |
A |
G |
4: 88,325,402 (GRCm39) |
D89G |
possibly damaging |
Het |
| Fstl4 |
C |
A |
11: 53,077,225 (GRCm39) |
Q661K |
probably benign |
Het |
| Gck |
T |
C |
11: 5,853,253 (GRCm39) |
Y289C |
probably benign |
Het |
| Gm16181 |
T |
A |
17: 35,442,913 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
G |
A |
9: 66,358,073 (GRCm39) |
G2385S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,902,606 (GRCm39) |
|
probably null |
Het |
| Il12b |
T |
C |
11: 44,299,353 (GRCm39) |
W141R |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,664,414 (GRCm39) |
S517T |
probably benign |
Het |
| Kank1 |
A |
G |
19: 25,388,813 (GRCm39) |
S801G |
probably benign |
Het |
| Klrh1 |
A |
G |
6: 129,752,343 (GRCm39) |
|
probably null |
Het |
| Lctl |
A |
G |
9: 64,039,003 (GRCm39) |
D205G |
probably damaging |
Het |
| Lhx3 |
A |
C |
2: 26,093,986 (GRCm39) |
V79G |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,543,912 (GRCm39) |
I1127T |
probably damaging |
Het |
| Ltbp3 |
A |
T |
19: 5,797,877 (GRCm39) |
E505D |
probably benign |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Map6 |
A |
G |
7: 98,965,083 (GRCm39) |
S291G |
probably damaging |
Het |
| Mapk7 |
A |
G |
11: 61,380,239 (GRCm39) |
F671L |
probably benign |
Het |
| Mau2 |
A |
G |
8: 70,484,142 (GRCm39) |
W149R |
probably damaging |
Het |
| Mb21d2 |
C |
T |
16: 28,647,267 (GRCm39) |
V236I |
possibly damaging |
Het |
| Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
| Mical1 |
C |
A |
10: 41,361,466 (GRCm39) |
P797Q |
probably benign |
Het |
| Mnx1 |
G |
A |
5: 29,679,043 (GRCm39) |
R347C |
unknown |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nlrp2 |
G |
T |
7: 5,330,715 (GRCm39) |
C560* |
probably null |
Het |
| Npat |
T |
A |
9: 53,474,416 (GRCm39) |
L736H |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,145,010 (GRCm39) |
V147E |
probably damaging |
Het |
| Nxpe2 |
A |
G |
9: 48,238,121 (GRCm39) |
F45L |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,951,741 (GRCm39) |
D4370G |
probably benign |
Het |
| Or2d3b |
A |
G |
7: 106,514,273 (GRCm39) |
I289M |
probably damaging |
Het |
| Or4a79 |
T |
C |
2: 89,551,550 (GRCm39) |
K302E |
probably benign |
Het |
| Or4c35 |
T |
C |
2: 89,808,671 (GRCm39) |
L183S |
probably damaging |
Het |
| Or4d10 |
A |
G |
19: 12,051,183 (GRCm39) |
V271A |
probably benign |
Het |
| Or52n4 |
A |
G |
7: 104,294,004 (GRCm39) |
S190P |
probably benign |
Het |
| Or5g23 |
T |
A |
2: 85,439,188 (GRCm39) |
H22L |
probably benign |
Het |
| Or8k3 |
A |
C |
2: 86,059,072 (GRCm39) |
M81R |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,671,249 (GRCm39) |
I1157T |
possibly damaging |
Het |
| Pias2 |
T |
A |
18: 77,240,412 (GRCm39) |
S589R |
probably benign |
Het |
| Plk5 |
G |
T |
10: 80,196,403 (GRCm39) |
|
probably null |
Het |
| Pnpla2 |
T |
A |
7: 141,035,329 (GRCm39) |
Y44N |
probably damaging |
Het |
| Ppp1r12a |
T |
A |
10: 108,098,292 (GRCm39) |
D337E |
possibly damaging |
Het |
| Prl2c5 |
G |
T |
13: 13,365,358 (GRCm39) |
|
probably null |
Het |
| Prom2 |
T |
C |
2: 127,378,514 (GRCm39) |
D460G |
probably damaging |
Het |
| Pros1 |
A |
G |
16: 62,748,498 (GRCm39) |
H657R |
possibly damaging |
Het |
| Prune2 |
A |
G |
19: 17,100,856 (GRCm39) |
E2120G |
probably damaging |
Het |
| Rap2a |
T |
A |
14: 120,716,347 (GRCm39) |
L70Q |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,839,157 (GRCm39) |
E858D |
probably benign |
Het |
| Rbm48 |
T |
C |
5: 3,645,997 (GRCm39) |
Y69C |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,123,018 (GRCm39) |
I267N |
probably damaging |
Het |
| Rpusd2 |
G |
T |
2: 118,865,728 (GRCm39) |
A142S |
probably benign |
Het |
| Rspo2 |
A |
T |
15: 42,939,332 (GRCm39) |
W153R |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Serinc5 |
T |
A |
13: 92,842,771 (GRCm39) |
M407K |
probably damaging |
Het |
| Slain2 |
T |
C |
5: 73,114,665 (GRCm39) |
S299P |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,084,528 (GRCm39) |
Y419H |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,627,183 (GRCm39) |
D173E |
probably damaging |
Het |
| Slc22a19 |
A |
T |
19: 7,688,506 (GRCm39) |
I18N |
probably damaging |
Het |
| Slc37a3 |
A |
T |
6: 39,336,902 (GRCm39) |
F91L |
probably damaging |
Het |
| Spag5 |
C |
A |
11: 78,195,281 (GRCm39) |
T196K |
possibly damaging |
Het |
| Susd2 |
G |
T |
10: 75,475,566 (GRCm39) |
A326D |
probably damaging |
Het |
| Syna |
G |
T |
5: 134,588,769 (GRCm39) |
A60D |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,355,067 (GRCm39) |
E1502D |
unknown |
Het |
| Tecta |
T |
C |
9: 42,303,320 (GRCm39) |
H104R |
probably damaging |
Het |
| Tmed1 |
T |
C |
9: 21,420,387 (GRCm39) |
D102G |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,722,781 (GRCm39) |
D128G |
probably damaging |
Het |
| Uroc1 |
A |
G |
6: 90,338,506 (GRCm39) |
M656V |
probably benign |
Het |
| Usp47 |
T |
A |
7: 111,701,077 (GRCm39) |
V1096D |
possibly damaging |
Het |
| Utp20 |
T |
A |
10: 88,598,632 (GRCm39) |
K115* |
probably null |
Het |
| Vmn2r19 |
G |
T |
6: 123,308,597 (GRCm39) |
|
probably null |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,255 (GRCm39) |
V787D |
probably damaging |
Het |
| Vmn2r87 |
A |
T |
10: 130,308,441 (GRCm39) |
I599N |
possibly damaging |
Het |
| Vwf |
A |
G |
6: 125,644,492 (GRCm39) |
D2449G |
possibly damaging |
Het |
| Zbtb7c |
T |
A |
18: 76,269,977 (GRCm39) |
C22S |
probably benign |
Het |
| Zc3h7a |
A |
G |
16: 10,965,168 (GRCm39) |
I655T |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,503 (GRCm39) |
W36R |
probably 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 |
|
R0308:Plcb1
|
UTSW |
2 |
134,655,534 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
|
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'- ATCTGATTGGCTCCTAACCTG -3'
(R):5'- ACCCAGATAAACTTGCCTCTTG -3'
Sequencing Primer
(F):5'- TAACCTGCCCATTCTCACCCAG -3'
(R):5'- GCAACAGGCAGGAGACCC -3'
|
| Posted On |
2014-06-30 |
Incidental Mutation