Incidental Mutation 'R0415:Plcb1'
| ID |
40206 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
038617-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R0415 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135179419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 609
(Y609C)
|
| 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: Y609C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y609C
| 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: Y609C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y609C
| 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: Y609C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y609C
| 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
|
| Meta Mutation Damage Score |
0.9571 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
97% (99/102) |
| 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: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427G23Rik |
A |
T |
5: 24,036,048 (GRCm39) |
|
noncoding transcript |
Het |
| Acox2 |
A |
G |
14: 8,243,835 (GRCm38) |
|
probably benign |
Het |
| Adgb |
T |
C |
10: 10,306,811 (GRCm39) |
|
probably null |
Het |
| Adgra3 |
C |
A |
5: 50,119,099 (GRCm39) |
|
probably benign |
Het |
| Adgre4 |
G |
A |
17: 56,159,288 (GRCm39) |
V658I |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,990,235 (GRCm39) |
|
probably benign |
Het |
| Anapc2 |
A |
G |
2: 25,168,337 (GRCm39) |
T159A |
probably damaging |
Het |
| Arfgef3 |
A |
G |
10: 18,488,875 (GRCm39) |
|
probably benign |
Het |
| Atf7ip |
C |
T |
6: 136,537,010 (GRCm39) |
S81L |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,253,031 (GRCm39) |
|
probably benign |
Het |
| Camk1 |
A |
T |
6: 113,318,852 (GRCm39) |
Y20* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,122,944 (GRCm39) |
Y249H |
possibly damaging |
Het |
| Cd109 |
T |
A |
9: 78,619,897 (GRCm39) |
S1380T |
probably benign |
Het |
| Cfap57 |
A |
T |
4: 118,426,628 (GRCm39) |
L1107Q |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 105,952,279 (GRCm39) |
V540I |
probably damaging |
Het |
| Cst9 |
T |
A |
2: 148,680,362 (GRCm39) |
|
probably benign |
Het |
| Cul5 |
C |
T |
9: 53,578,370 (GRCm39) |
V73I |
probably benign |
Het |
| Cxcl16 |
T |
A |
11: 70,349,574 (GRCm39) |
K84* |
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,317,539 (GRCm39) |
|
probably benign |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dip2c |
C |
T |
13: 9,618,325 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
T |
14: 99,324,892 (GRCm39) |
I513N |
probably damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,516,359 (GRCm39) |
L3* |
probably null |
Het |
| Dop1a |
T |
A |
9: 86,388,555 (GRCm39) |
L480M |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,699,392 (GRCm39) |
V1787A |
possibly damaging |
Het |
| Etnk1 |
A |
G |
6: 143,126,500 (GRCm39) |
N115S |
probably damaging |
Het |
| Fryl |
T |
C |
5: 73,255,757 (GRCm39) |
Y758C |
probably damaging |
Het |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Ggnbp2 |
A |
C |
11: 84,724,051 (GRCm39) |
|
probably benign |
Het |
| Gm7137 |
A |
G |
10: 77,624,007 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,891,322 (GRCm39) |
Q132L |
probably benign |
Het |
| Habp2 |
T |
C |
19: 56,306,149 (GRCm39) |
|
probably benign |
Het |
| Hectd2 |
T |
C |
19: 36,562,284 (GRCm39) |
|
probably benign |
Het |
| Htr6 |
A |
G |
4: 138,789,392 (GRCm39) |
I291T |
possibly damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,530 (GRCm39) |
D199G |
unknown |
Het |
| Itih2 |
A |
G |
2: 10,110,426 (GRCm39) |
|
probably benign |
Het |
| Kcnab2 |
A |
G |
4: 152,479,593 (GRCm39) |
F248S |
probably benign |
Het |
| Kcnc4 |
T |
C |
3: 107,352,749 (GRCm39) |
K610E |
probably damaging |
Het |
| Kcnk16 |
T |
A |
14: 20,313,043 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
C |
T |
7: 139,510,037 (GRCm39) |
T1293I |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,464,446 (GRCm39) |
I556F |
possibly damaging |
Het |
| Lrrc8d |
T |
C |
5: 105,959,731 (GRCm39) |
L47P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,711,135 (GRCm39) |
Y119* |
probably null |
Het |
| Lyst |
T |
C |
13: 13,886,195 (GRCm39) |
|
probably benign |
Het |
| Macrod2 |
G |
A |
2: 142,052,065 (GRCm39) |
|
probably null |
Het |
| Mical2 |
C |
T |
7: 111,980,235 (GRCm39) |
R70C |
probably damaging |
Het |
| Mllt3 |
ACTGCTGCTGCTGCTGCTGCT |
ACTGCTGCTGCTGCTGCT |
4: 87,759,576 (GRCm39) |
|
probably benign |
Het |
| Msh3 |
A |
G |
13: 92,483,294 (GRCm39) |
V283A |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,191,569 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or51e2 |
C |
T |
7: 102,391,294 (GRCm39) |
M305I |
probably benign |
Het |
| Or5m10 |
A |
T |
2: 85,717,782 (GRCm39) |
I213F |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,399 (GRCm39) |
H191L |
probably benign |
Het |
| Or8c15 |
A |
T |
9: 38,121,269 (GRCm39) |
M305L |
probably benign |
Het |
| Or8g2 |
A |
G |
9: 39,821,279 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,337,047 (GRCm39) |
G1221D |
probably damaging |
Het |
| Pax5 |
G |
A |
4: 44,691,886 (GRCm39) |
A120V |
probably damaging |
Het |
| Pcsk6 |
C |
T |
7: 65,683,622 (GRCm39) |
R746C |
probably damaging |
Het |
| Pif1 |
G |
A |
9: 65,495,333 (GRCm39) |
C81Y |
probably benign |
Het |
| Plcd4 |
C |
A |
1: 74,591,256 (GRCm39) |
S217Y |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,318 (GRCm39) |
H104Y |
probably benign |
Het |
| Polr2k |
A |
G |
15: 36,175,602 (GRCm39) |
Y45C |
probably damaging |
Het |
| Prex1 |
A |
G |
2: 166,428,619 (GRCm39) |
|
probably benign |
Het |
| Pth2r |
A |
G |
1: 65,427,598 (GRCm39) |
M424V |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,441,396 (GRCm39) |
R464G |
probably benign |
Het |
| Rad51c |
A |
G |
11: 87,288,481 (GRCm39) |
L234P |
probably damaging |
Het |
| Rnf145 |
A |
G |
11: 44,415,965 (GRCm39) |
Y60C |
probably damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,525 (GRCm39) |
I135T |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,305,295 (GRCm39) |
I509F |
probably damaging |
Het |
| Ro60 |
G |
T |
1: 143,635,813 (GRCm39) |
N444K |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,884,042 (GRCm39) |
S213G |
probably damaging |
Het |
| Selenbp1 |
T |
C |
3: 94,844,224 (GRCm39) |
V27A |
possibly damaging |
Het |
| Selenof |
T |
G |
3: 144,283,453 (GRCm39) |
L14R |
probably damaging |
Het |
| Sfswap |
A |
T |
5: 129,581,190 (GRCm39) |
D121V |
probably damaging |
Het |
| Slc25a34 |
C |
A |
4: 141,347,780 (GRCm39) |
M300I |
possibly damaging |
Het |
| Slc34a3 |
T |
G |
2: 25,119,122 (GRCm39) |
T583P |
probably benign |
Het |
| Slc66a3 |
C |
A |
12: 17,047,711 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,781,691 (GRCm39) |
A1199S |
probably benign |
Het |
| Spint1 |
A |
G |
2: 119,076,096 (GRCm39) |
T231A |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,099,576 (GRCm39) |
N229K |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,379,516 (GRCm39) |
|
probably benign |
Het |
| Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
| Tbcel |
C |
A |
9: 42,355,796 (GRCm39) |
C139F |
probably benign |
Het |
| Thbs2 |
A |
C |
17: 14,900,235 (GRCm39) |
S573A |
probably benign |
Het |
| Tmem132c |
A |
G |
5: 127,640,769 (GRCm39) |
E980G |
probably damaging |
Het |
| Tmem247 |
G |
T |
17: 87,229,750 (GRCm39) |
C197F |
probably damaging |
Het |
| Tmem43 |
C |
A |
6: 91,459,300 (GRCm39) |
P257Q |
probably benign |
Het |
| Tmprss13 |
A |
G |
9: 45,248,430 (GRCm39) |
|
probably null |
Het |
| Ubr5 |
T |
C |
15: 37,973,224 (GRCm39) |
T2626A |
probably damaging |
Het |
| Vmn1r196 |
T |
A |
13: 22,478,006 (GRCm39) |
V215D |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,317 (GRCm39) |
T220K |
probably benign |
Het |
| Vmn2r116 |
G |
A |
17: 23,606,253 (GRCm39) |
M388I |
possibly damaging |
Het |
| Vmn2r74 |
A |
C |
7: 85,610,618 (GRCm39) |
C25G |
probably damaging |
Het |
| Xndc1 |
T |
C |
7: 101,729,823 (GRCm39) |
|
probably benign |
Het |
| Zfp282 |
A |
G |
6: 47,874,815 (GRCm39) |
D340G |
probably damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,987 (GRCm39) |
I558N |
possibly damaging |
Het |
| Zfp316 |
T |
A |
5: 143,250,246 (GRCm39) |
T56S |
unknown |
Het |
| Zfp345 |
A |
G |
2: 150,316,479 (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 |
|
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 |
|
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'- TGACACAAGTCATTCTTGCTGTCCC -3'
(R):5'- GGAAGTGTTGAACTTCTTAGTGGCCTC -3'
Sequencing Primer
(F):5'- GGTATCCACAGGTTTCCCAGAAG -3'
(R):5'- gtgtatgtgtaggtacatctttgtg -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation