Incidental Mutation 'R8061:Plcb1'
| ID |
619688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
067497-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8061 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 135346396 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 803
(Y803F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070724
AA Change: Y803F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y803F
| 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: Y803F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y803F
| 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: Y803F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y803F
| 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 |
|
| Meta Mutation Damage Score |
0.0591 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (70/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230110C19Rik |
A |
G |
9: 8,042,671 (GRCm38) |
W37R |
probably damaging |
Het |
| Acads |
G |
A |
5: 115,117,651 (GRCm38) |
R42C |
probably benign |
Het |
| Agrn |
G |
A |
4: 156,178,954 (GRCm38) |
R338C |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,648,488 (GRCm38) |
E1008G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 102,098,249 (GRCm38) |
Y108N |
possibly damaging |
Het |
| As3mt |
G |
A |
19: 46,740,543 (GRCm38) |
C369Y |
probably damaging |
Het |
| Asb3 |
A |
G |
11: 30,998,447 (GRCm38) |
N41S |
probably damaging |
Het |
| Astn1 |
G |
A |
1: 158,504,350 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,524,243 (GRCm38) |
M1770K |
possibly damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,946,220 (GRCm38) |
|
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,679,154 (GRCm38) |
Y408H |
possibly damaging |
Het |
| Chst2 |
T |
C |
9: 95,405,171 (GRCm38) |
H374R |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 95,765,027 (GRCm38) |
F390L |
possibly damaging |
Het |
| Comt |
T |
C |
16: 18,411,290 (GRCm38) |
Y100C |
probably benign |
Het |
| Dclk2 |
T |
C |
3: 86,813,674 (GRCm38) |
|
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,702,818 (GRCm38) |
Q1202* |
probably null |
Het |
| Disp1 |
C |
T |
1: 183,087,587 (GRCm38) |
V1090M |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,617,170 (GRCm38) |
D62G |
possibly damaging |
Het |
| Dock1 |
C |
T |
7: 134,772,323 (GRCm38) |
T566I |
probably benign |
Het |
| Dopey1 |
T |
G |
9: 86,521,193 (GRCm38) |
M18R |
possibly damaging |
Het |
| Dopey2 |
T |
C |
16: 93,749,996 (GRCm38) |
L296P |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,032,274 (GRCm38) |
G881R |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 105,106,449 (GRCm38) |
D155V |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 34,905,927 (GRCm38) |
S465P |
possibly damaging |
Het |
| Eno1b |
G |
A |
18: 48,047,658 (GRCm38) |
W301* |
probably null |
Het |
| Fam49a |
G |
T |
12: 12,362,027 (GRCm38) |
A150S |
possibly damaging |
Het |
| Fpgt |
A |
G |
3: 155,087,266 (GRCm38) |
S375P |
probably benign |
Het |
| Gas2l1 |
G |
A |
11: 5,061,785 (GRCm38) |
S348F |
possibly damaging |
Het |
| Gen1 |
A |
T |
12: 11,261,076 (GRCm38) |
|
probably benign |
Het |
| Gm16486 |
A |
G |
8: 70,708,575 (GRCm38) |
E139G |
probably benign |
Het |
| Ice1 |
A |
T |
13: 70,603,732 (GRCm38) |
C1412S |
probably damaging |
Het |
| Klhl2 |
A |
C |
8: 64,758,223 (GRCm38) |
L264V |
probably damaging |
Het |
| Lars2 |
A |
G |
9: 123,459,497 (GRCm38) |
T803A |
probably benign |
Het |
| Ldb2 |
T |
A |
5: 44,480,270 (GRCm38) |
K232M |
probably damaging |
Het |
| Lix1 |
G |
A |
17: 17,443,676 (GRCm38) |
R92Q |
probably damaging |
Het |
| Meig1 |
C |
T |
2: 3,409,203 (GRCm38) |
V87I |
not run |
Het |
| Mitf |
A |
C |
6: 97,993,298 (GRCm38) |
S176R |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 54,990,941 (GRCm38) |
V236A |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,122,957 (GRCm38) |
Y119* |
probably null |
Het |
| Ncapg2 |
A |
G |
12: 116,426,577 (GRCm38) |
N382S |
probably benign |
Het |
| Neu2 |
C |
T |
1: 87,596,911 (GRCm38) |
P206L |
probably damaging |
Het |
| Olfr753-ps1 |
A |
G |
17: 37,169,901 (GRCm38) |
F147S |
probably damaging |
Het |
| Osbpl5 |
C |
T |
7: 143,702,724 (GRCm38) |
R454Q |
probably benign |
Het |
| Panx1 |
A |
G |
9: 15,045,001 (GRCm38) |
S13P |
possibly damaging |
Het |
| Pde2a |
A |
G |
7: 101,503,972 (GRCm38) |
D413G |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,161,186 (GRCm38) |
|
probably benign |
Het |
| Pth2r |
T |
A |
1: 65,343,501 (GRCm38) |
Y143N |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,691,600 (GRCm38) |
|
probably null |
Het |
| Rapgef3 |
T |
C |
15: 97,761,520 (GRCm38) |
Y112C |
probably benign |
Het |
| Rusc2 |
A |
G |
4: 43,422,492 (GRCm38) |
N907S |
probably damaging |
Het |
| Scn7a |
T |
A |
2: 66,692,594 (GRCm38) |
N922I |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,212,333 (GRCm38) |
V1620A |
possibly damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,111,045 (GRCm38) |
S280R |
probably damaging |
Het |
| Slc30a5 |
T |
C |
13: 100,828,911 (GRCm38) |
I63M |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 118,152,387 (GRCm38) |
V2817E |
unknown |
Het |
| Sprr3 |
T |
C |
3: 92,456,877 (GRCm38) |
E220G |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,819,863 (GRCm38) |
E14G |
probably benign |
Het |
| Tenm4 |
A |
G |
7: 96,852,456 (GRCm38) |
D1289G |
probably damaging |
Het |
| Tmem121b |
C |
A |
6: 120,492,103 (GRCm38) |
G551V |
probably damaging |
Het |
| Tpk1 |
A |
G |
6: 43,346,844 (GRCm38) |
S224P |
probably damaging |
Het |
| Trib1 |
T |
C |
15: 59,651,555 (GRCm38) |
I146T |
probably damaging |
Het |
| Ttc32 |
T |
A |
12: 9,034,953 (GRCm38) |
Y58N |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,657,290 (GRCm38) |
I3336L |
probably benign |
Het |
| Vmn1r200 |
C |
A |
13: 22,395,283 (GRCm38) |
Y85* |
probably null |
Het |
| Vps39 |
T |
C |
2: 120,344,211 (GRCm38) |
I97V |
probably benign |
Het |
| Zan |
T |
A |
5: 137,436,631 (GRCm38) |
I2167F |
unknown |
Het |
| Zfp37 |
A |
T |
4: 62,191,428 (GRCm38) |
Y507* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,902,747 (GRCm38) |
V55A |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 74,083,514 (GRCm38) |
N294I |
possibly damaging |
Het |
| Zfp729a |
T |
C |
13: 67,620,089 (GRCm38) |
T674A |
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 |
|
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 |
|
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'- AGCAGAGCCATCAGTGTTTG -3'
(R):5'- CTGGTTAGGATTCCAATGGACAC -3'
Sequencing Primer
(F):5'- CTGTTTGTAGAGCACCACAGG -3'
(R):5'- TTCCAATGGACACAGAAAGGTTC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation