Incidental Mutation 'R6478:Plcb1'
| ID |
516888 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
044610-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R6478 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135177371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 568
(S568P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070724
AA Change: S568P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: S568P
| 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 damaging
Transcript: ENSMUST00000110116
AA Change: S568P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: S568P
| 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 damaging
Transcript: ENSMUST00000131552
AA Change: S568P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: S568P
| 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: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (75/79) |
| 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 |
|---|
| Aatk |
T |
A |
11: 119,901,817 (GRCm39) |
S803C |
probably benign |
Het |
| Abcc9 |
C |
T |
6: 142,625,034 (GRCm39) |
A454T |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,343,158 (GRCm39) |
E565G |
probably damaging |
Het |
| Adam33 |
C |
A |
2: 130,893,266 (GRCm39) |
R753L |
probably benign |
Het |
| Adgre1 |
A |
G |
17: 57,708,955 (GRCm39) |
T49A |
possibly damaging |
Het |
| Ankra2 |
A |
T |
13: 98,404,950 (GRCm39) |
H153L |
probably damaging |
Het |
| Ankrd26 |
T |
G |
6: 118,488,599 (GRCm39) |
E1353D |
probably benign |
Het |
| Ankrd52 |
T |
G |
10: 128,215,200 (GRCm39) |
|
probably null |
Het |
| Arhgef10l |
T |
A |
4: 140,270,068 (GRCm39) |
T619S |
possibly damaging |
Het |
| Armh4 |
A |
G |
14: 50,010,789 (GRCm39) |
V306A |
possibly damaging |
Het |
| Asgr1 |
T |
C |
11: 69,947,720 (GRCm39) |
V130A |
possibly damaging |
Het |
| Atg10 |
C |
A |
13: 91,085,466 (GRCm39) |
C161F |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,401,554 (GRCm39) |
N1438K |
probably damaging |
Het |
| BC107364 |
T |
A |
3: 96,343,322 (GRCm39) |
|
probably null |
Het |
| Bcar3 |
G |
T |
3: 122,220,225 (GRCm39) |
A41S |
probably benign |
Het |
| Btbd6 |
A |
G |
12: 112,940,932 (GRCm39) |
|
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,835,600 (GRCm39) |
T318A |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,809,719 (GRCm39) |
I2221N |
probably damaging |
Het |
| Cept1 |
C |
T |
3: 106,440,761 (GRCm39) |
W48* |
probably null |
Het |
| Cfap161 |
T |
A |
7: 83,442,484 (GRCm39) |
I85L |
probably benign |
Het |
| Clasp1 |
A |
T |
1: 118,439,910 (GRCm39) |
R640* |
probably null |
Het |
| Col5a1 |
T |
A |
2: 27,842,448 (GRCm39) |
I441N |
unknown |
Het |
| Col9a1 |
C |
A |
1: 24,224,486 (GRCm39) |
L223I |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,406,836 (GRCm39) |
D223G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dpy19l1 |
A |
T |
9: 24,361,992 (GRCm39) |
M129K |
possibly damaging |
Het |
| Ecpas |
A |
T |
4: 58,810,785 (GRCm39) |
I1524N |
probably damaging |
Het |
| Fcgbpl1 |
C |
G |
7: 27,854,798 (GRCm39) |
P1808R |
probably damaging |
Het |
| Fcrl1 |
C |
A |
3: 87,296,946 (GRCm39) |
H318Q |
probably benign |
Het |
| Fer1l5 |
A |
G |
1: 36,441,612 (GRCm39) |
N609S |
probably damaging |
Het |
| Fkbp4 |
C |
T |
6: 128,410,194 (GRCm39) |
E256K |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Glrx |
G |
A |
13: 75,995,418 (GRCm39) |
|
probably null |
Het |
| Gm7356 |
A |
T |
17: 14,221,726 (GRCm39) |
M101K |
probably damaging |
Het |
| Gstp2 |
A |
T |
19: 4,090,499 (GRCm39) |
I162N |
probably benign |
Het |
| Hectd3 |
A |
C |
4: 116,856,783 (GRCm39) |
K443N |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,540,535 (GRCm39) |
R2925W |
probably damaging |
Het |
| Hspa1a |
G |
T |
17: 35,189,282 (GRCm39) |
N540K |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,938,235 (GRCm39) |
M649K |
probably benign |
Het |
| Katnb1 |
T |
C |
8: 95,822,084 (GRCm39) |
V270A |
possibly damaging |
Het |
| Kctd3 |
A |
G |
1: 188,704,561 (GRCm39) |
S737P |
probably benign |
Het |
| Klra10 |
T |
C |
6: 130,249,507 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
A |
G |
7: 45,448,013 (GRCm39) |
D1353G |
unknown |
Het |
| Lrrk1 |
A |
G |
7: 65,912,481 (GRCm39) |
V1693A |
probably damaging |
Het |
| Mpnd |
A |
T |
17: 56,316,575 (GRCm39) |
I85F |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 70,179,304 (GRCm39) |
T1173A |
probably benign |
Het |
| Myof |
G |
A |
19: 37,892,279 (GRCm39) |
P1158L |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,187,069 (GRCm39) |
|
probably benign |
Het |
| Npepps |
C |
T |
11: 97,149,099 (GRCm39) |
|
probably null |
Het |
| Opn5 |
T |
A |
17: 42,891,640 (GRCm39) |
I266F |
probably benign |
Het |
| Or4a74 |
T |
G |
2: 89,439,790 (GRCm39) |
I219L |
probably damaging |
Het |
| P2rx4 |
A |
G |
5: 122,845,763 (GRCm39) |
D16G |
probably damaging |
Het |
| Padi2 |
G |
T |
4: 140,644,948 (GRCm39) |
V61L |
probably benign |
Het |
| Pkd1l1 |
G |
A |
11: 8,813,911 (GRCm39) |
T1480I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,554,914 (GRCm39) |
E505G |
probably damaging |
Het |
| Rcan2 |
A |
G |
17: 44,147,225 (GRCm39) |
E21G |
probably benign |
Het |
| Rhob |
G |
T |
12: 8,549,585 (GRCm39) |
C16* |
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,490,413 (GRCm39) |
N3807S |
probably damaging |
Het |
| Sass6 |
T |
A |
3: 116,415,046 (GRCm39) |
N519K |
probably benign |
Het |
| Slco1a8 |
A |
T |
6: 141,939,368 (GRCm39) |
N208K |
possibly damaging |
Het |
| Smad9 |
A |
T |
3: 54,689,864 (GRCm39) |
D28V |
probably damaging |
Het |
| Spmip8 |
A |
T |
8: 96,047,894 (GRCm39) |
|
probably null |
Het |
| Tex14 |
G |
T |
11: 87,405,199 (GRCm39) |
G704C |
probably benign |
Het |
| Tmc3 |
A |
G |
7: 83,271,524 (GRCm39) |
N892S |
probably benign |
Het |
| Tnfaip2 |
T |
A |
12: 111,412,097 (GRCm39) |
L166Q |
probably damaging |
Het |
| Triml2 |
A |
G |
8: 43,638,165 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,856,193 (GRCm39) |
V666A |
probably benign |
Het |
| Tshz2 |
G |
T |
2: 169,726,584 (GRCm39) |
L393F |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,672,115 (GRCm39) |
|
probably benign |
Het |
| Tubb5 |
A |
G |
17: 36,146,734 (GRCm39) |
Y159H |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,178,129 (GRCm39) |
Y35C |
probably damaging |
Het |
| Utp4 |
T |
C |
8: 107,631,078 (GRCm39) |
|
probably null |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,864 (GRCm39) |
C79S |
probably damaging |
Het |
| Wnt5b |
T |
C |
6: 119,410,751 (GRCm39) |
T230A |
probably damaging |
Het |
| Zfp618 |
A |
T |
4: 63,050,943 (GRCm39) |
I575F |
probably damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,176 (GRCm39) |
V894L |
possibly damaging |
Het |
| Zpbp |
T |
C |
11: 11,412,318 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- AACCATCAGGCTTTCTCACC -3'
(R):5'- ACACCTGAGACTTGGGCTATATTC -3'
Sequencing Primer
(F):5'- CCCTAGCTATGAATACTTGAAGAGG -3'
(R):5'- CCTGAGACTTGGGCTATATTCTATTC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation