Incidental Mutation 'R5568:Plcb1'
ID |
436989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb1
|
Ensembl Gene |
ENSMUSG00000051177 |
Gene Name |
phospholipase C, beta 1 |
Synonyms |
3110043I21Rik |
MMRRC Submission |
043125-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.204)
|
Stock # |
R5568 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135212513 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 1035
(I1035F)
|
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: I1035F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000064844 Gene: ENSMUSG00000051177 AA Change: I1035F
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: I1035F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000105743 Gene: ENSMUSG00000051177 AA Change: I1035F
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: I1035F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118756 Gene: ENSMUSG00000051177 AA Change: I1035F
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: 98.3%
- 20x: 95.0%
|
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: 96 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4 |
T |
C |
4: 144,349,364 (GRCm39) |
V207A |
probably benign |
Het |
Abcc10 |
C |
A |
17: 46,614,834 (GRCm39) |
|
probably null |
Het |
Abcc9 |
A |
C |
6: 142,634,742 (GRCm39) |
V174G |
possibly damaging |
Het |
Abl1 |
C |
T |
2: 31,669,086 (GRCm39) |
A155V |
probably damaging |
Het |
Aco2 |
T |
A |
15: 81,787,787 (GRCm39) |
D212E |
probably damaging |
Het |
Adam26b |
A |
T |
8: 43,973,529 (GRCm39) |
M491K |
probably benign |
Het |
Anapc5 |
G |
A |
5: 122,929,988 (GRCm39) |
|
probably benign |
Het |
Atf7 |
A |
G |
15: 102,471,757 (GRCm39) |
I46T |
probably damaging |
Het |
Cacna1b |
A |
G |
2: 24,497,612 (GRCm39) |
S2100P |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,775,137 (GRCm39) |
D501V |
probably damaging |
Het |
Cc2d2a |
A |
G |
5: 43,866,433 (GRCm39) |
M748V |
probably damaging |
Het |
Cd300c2 |
T |
C |
11: 114,891,662 (GRCm39) |
T71A |
probably damaging |
Het |
Chmp2a |
T |
C |
7: 12,767,758 (GRCm39) |
M56V |
probably benign |
Het |
Cilp |
A |
C |
9: 65,187,515 (GRCm39) |
R1203S |
probably benign |
Het |
Clp1 |
T |
A |
2: 84,556,322 (GRCm39) |
K53* |
probably null |
Het |
Crhbp |
T |
A |
13: 95,578,737 (GRCm39) |
D128V |
probably damaging |
Het |
Crispld1 |
T |
A |
1: 17,820,495 (GRCm39) |
I292N |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,677,526 (GRCm39) |
I488N |
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,307,456 (GRCm39) |
M149L |
probably benign |
Het |
Ddx24 |
T |
A |
12: 103,390,547 (GRCm39) |
Q59L |
possibly damaging |
Het |
Ddx27 |
A |
G |
2: 166,871,439 (GRCm39) |
H512R |
possibly damaging |
Het |
Dlgap4 |
T |
A |
2: 156,604,821 (GRCm39) |
*993K |
probably null |
Het |
Dmxl2 |
A |
T |
9: 54,330,643 (GRCm39) |
|
probably null |
Het |
Dus4l |
A |
T |
12: 31,696,712 (GRCm39) |
F88L |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,904,071 (GRCm39) |
V176E |
probably damaging |
Het |
Fat3 |
T |
A |
9: 16,288,219 (GRCm39) |
K435* |
probably null |
Het |
Fsip2 |
T |
C |
2: 82,816,908 (GRCm39) |
C4214R |
probably benign |
Het |
Garin5a |
T |
G |
7: 44,150,428 (GRCm39) |
S207A |
probably damaging |
Het |
Gfral |
T |
C |
9: 76,072,087 (GRCm39) |
*394W |
probably null |
Het |
Glis1 |
T |
C |
4: 107,476,832 (GRCm39) |
S518P |
probably damaging |
Het |
H2-T10 |
A |
G |
17: 36,430,079 (GRCm39) |
|
probably null |
Het |
Hsbp1l1 |
T |
C |
18: 80,278,679 (GRCm39) |
T35A |
possibly damaging |
Het |
Ighv5-12 |
A |
G |
12: 113,665,837 (GRCm39) |
F87S |
probably damaging |
Het |
Ints13 |
A |
C |
6: 146,477,855 (GRCm39) |
D31E |
probably damaging |
Het |
Kbtbd12 |
C |
T |
6: 88,595,609 (GRCm39) |
D74N |
probably damaging |
Het |
Klrb1c |
A |
G |
6: 128,765,877 (GRCm39) |
|
probably benign |
Het |
Kmt5b |
A |
T |
19: 3,836,538 (GRCm39) |
H25L |
probably benign |
Het |
Krt28 |
A |
T |
11: 99,262,210 (GRCm39) |
M260K |
probably damaging |
Het |
Krt79 |
A |
G |
15: 101,838,220 (GRCm39) |
S512P |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,075,293 (GRCm39) |
|
probably null |
Het |
Maneal |
T |
C |
4: 124,750,937 (GRCm39) |
E273G |
possibly damaging |
Het |
Map4k3 |
T |
A |
17: 80,971,427 (GRCm39) |
Y80F |
possibly damaging |
Het |
Mbd6 |
A |
G |
10: 127,119,297 (GRCm39) |
V946A |
possibly damaging |
Het |
Mfsd14b |
A |
T |
13: 65,219,936 (GRCm39) |
|
probably null |
Het |
Mrpl46 |
C |
G |
7: 78,430,242 (GRCm39) |
W176S |
probably damaging |
Het |
Muc19 |
A |
G |
15: 91,768,468 (GRCm39) |
|
noncoding transcript |
Het |
Mup3 |
T |
G |
4: 62,002,809 (GRCm39) |
E184A |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,781,911 (GRCm39) |
H1699R |
probably benign |
Het |
Ndrg2 |
T |
A |
14: 52,144,420 (GRCm39) |
T269S |
probably damaging |
Het |
Nfatc1 |
A |
T |
18: 80,693,037 (GRCm39) |
V688D |
probably benign |
Het |
Ninj2 |
T |
C |
6: 120,175,670 (GRCm39) |
I101T |
probably benign |
Het |
Nlrp10 |
T |
A |
7: 108,523,468 (GRCm39) |
M671L |
probably benign |
Het |
Npsr1 |
T |
A |
9: 24,224,510 (GRCm39) |
L296I |
probably damaging |
Het |
Or10d5 |
A |
G |
9: 39,861,983 (GRCm39) |
L28P |
probably benign |
Het |
Or52r1b |
G |
T |
7: 102,691,517 (GRCm39) |
R272L |
possibly damaging |
Het |
Pacsin1 |
T |
A |
17: 27,927,022 (GRCm39) |
D242E |
probably damaging |
Het |
Pcdh1 |
T |
C |
18: 38,330,420 (GRCm39) |
Y861C |
probably damaging |
Het |
Pcdha12 |
T |
C |
18: 37,153,443 (GRCm39) |
L54P |
probably damaging |
Het |
Pcdhb18 |
T |
A |
18: 37,624,853 (GRCm39) |
S728T |
probably benign |
Het |
Phyhd1 |
T |
A |
2: 30,167,022 (GRCm39) |
H108Q |
probably damaging |
Het |
Plcl1 |
T |
C |
1: 55,735,309 (GRCm39) |
S217P |
possibly damaging |
Het |
Plppr2 |
G |
A |
9: 21,852,425 (GRCm39) |
R103H |
probably damaging |
Het |
Plxnb2 |
G |
A |
15: 89,041,638 (GRCm39) |
T1722I |
probably damaging |
Het |
Pole3 |
T |
C |
4: 62,442,668 (GRCm39) |
N53S |
probably damaging |
Het |
Ptk6 |
A |
T |
2: 180,841,488 (GRCm39) |
N140K |
possibly damaging |
Het |
Rab12 |
C |
T |
17: 66,804,418 (GRCm39) |
R180H |
probably damaging |
Het |
Rab36 |
G |
T |
10: 74,888,311 (GRCm39) |
V252L |
probably benign |
Het |
Ranbp3 |
T |
C |
17: 57,008,543 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
G |
3: 79,011,308 (GRCm39) |
L259P |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,222,140 (GRCm39) |
M380L |
probably benign |
Het |
Scaf4 |
GGCTGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTGCTG |
16: 90,026,745 (GRCm39) |
|
probably benign |
Het |
Scd2 |
T |
C |
19: 44,288,142 (GRCm39) |
F178S |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,356,250 (GRCm39) |
S87P |
probably damaging |
Het |
Slf1 |
T |
A |
13: 77,194,823 (GRCm39) |
D834V |
probably damaging |
Het |
Sorcs2 |
A |
C |
5: 36,203,874 (GRCm39) |
Y540* |
probably null |
Het |
Srpk2 |
T |
A |
5: 23,730,697 (GRCm39) |
Q274L |
possibly damaging |
Het |
Stradb |
T |
A |
1: 59,031,901 (GRCm39) |
M271K |
possibly damaging |
Het |
Tfec |
T |
A |
6: 16,867,592 (GRCm39) |
Q16L |
possibly damaging |
Het |
Tfg |
T |
C |
16: 56,521,450 (GRCm39) |
T63A |
probably benign |
Het |
Ticrr |
G |
A |
7: 79,339,715 (GRCm39) |
|
probably null |
Het |
Ticrr |
T |
A |
7: 79,345,044 (GRCm39) |
C1636* |
probably null |
Het |
Tln2 |
A |
G |
9: 67,219,147 (GRCm39) |
I266T |
probably damaging |
Het |
Tmcc1 |
G |
C |
6: 115,999,071 (GRCm39) |
R323G |
possibly damaging |
Het |
Tnnt3 |
A |
G |
7: 142,065,777 (GRCm39) |
E138G |
probably damaging |
Het |
Tpm2 |
C |
A |
4: 43,522,692 (GRCm39) |
E75* |
probably null |
Het |
Ttn |
T |
G |
2: 76,580,922 (GRCm39) |
T23324P |
probably damaging |
Het |
Ubr4 |
T |
G |
4: 139,119,349 (GRCm39) |
L176R |
probably damaging |
Het |
Uhrf2 |
G |
T |
19: 30,016,488 (GRCm39) |
D46Y |
probably damaging |
Het |
Ulbp1 |
A |
C |
10: 7,423,281 (GRCm39) |
S21A |
unknown |
Het |
Usp17lb |
C |
T |
7: 104,490,415 (GRCm39) |
G170R |
probably damaging |
Het |
Utp15 |
T |
C |
13: 98,394,433 (GRCm39) |
N153S |
probably benign |
Het |
Vcan |
T |
A |
13: 89,836,790 (GRCm39) |
E2918V |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,919 (GRCm39) |
I195K |
probably damaging |
Het |
Vmn1r76 |
C |
T |
7: 11,665,062 (GRCm39) |
V16I |
probably benign |
Het |
Xdh |
T |
C |
17: 74,250,880 (GRCm39) |
D24G |
possibly damaging |
Het |
Xylb |
T |
A |
9: 119,190,198 (GRCm39) |
H68Q |
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 |
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'- TACCACCAGCCCAGTTCTTG -3'
(R):5'- TTAGAGGGATTCATCAAATGTGAGG -3'
Sequencing Primer
(F):5'- GTGTCTTTGCAGATCTGAACCCAG -3'
(R):5'- ATCAAATGTGAGGAGTGTTAGTGTAC -3'
|
Posted On |
2016-10-24 |