Incidental Mutation 'R4720:Plcb1'
| ID |
354351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
041958-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R4720 (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 G
at 135093667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 160
(K160R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070724
AA Change: K160R
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: K160R
| 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 |
possibly damaging
Transcript: ENSMUST00000110116
AA Change: K160R
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: K160R
| 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 |
noncoding transcript
Transcript: ENSMUST00000129382
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131552
AA Change: K160R
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: K160R
| 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 |
probably benign
Transcript: ENSMUST00000201485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201524
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202531
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,018,248 (GRCm39) |
I1124T |
probably damaging |
Het |
| Acacb |
A |
G |
5: 114,367,975 (GRCm39) |
T1658A |
possibly damaging |
Het |
| Acvrl1 |
C |
A |
15: 101,033,654 (GRCm39) |
P112Q |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,738,170 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ankfn1 |
G |
C |
11: 89,332,252 (GRCm39) |
D431E |
possibly damaging |
Het |
| Apobec4 |
T |
C |
1: 152,632,425 (GRCm39) |
V151A |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,093,949 (GRCm39) |
S498G |
probably benign |
Het |
| Azin1 |
A |
G |
15: 38,493,744 (GRCm39) |
V293A |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,835,083 (GRCm39) |
E46G |
probably damaging |
Het |
| Ccdc96 |
T |
C |
5: 36,642,219 (GRCm39) |
|
probably benign |
Het |
| Ccnyl1 |
A |
G |
1: 64,752,290 (GRCm39) |
D169G |
probably benign |
Het |
| Cdca3 |
T |
A |
6: 124,809,127 (GRCm39) |
V89E |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Chka |
G |
A |
19: 3,936,375 (GRCm39) |
V238I |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,218,983 (GRCm39) |
K546E |
possibly damaging |
Het |
| Crybg3 |
A |
G |
16: 59,360,180 (GRCm39) |
V787A |
probably damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,089,508 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
C |
T |
17: 30,902,608 (GRCm39) |
L889F |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,967,184 (GRCm39) |
E1658G |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,996 (GRCm39) |
D102G |
probably damaging |
Het |
| Dync1i2 |
T |
G |
2: 71,064,018 (GRCm39) |
S121A |
probably damaging |
Het |
| Ece1 |
G |
A |
4: 137,684,486 (GRCm39) |
E591K |
probably damaging |
Het |
| Enthd1 |
G |
A |
15: 80,444,510 (GRCm39) |
S15L |
probably damaging |
Het |
| Epb41l2 |
T |
A |
10: 25,347,524 (GRCm39) |
H372Q |
probably damaging |
Het |
| Errfi1 |
T |
A |
4: 150,951,204 (GRCm39) |
Y211N |
probably damaging |
Het |
| Fam193b |
G |
A |
13: 55,691,250 (GRCm39) |
T208M |
probably benign |
Het |
| Flacc1 |
T |
C |
1: 58,717,507 (GRCm39) |
I135V |
possibly damaging |
Het |
| Fmnl2 |
C |
T |
2: 52,997,552 (GRCm39) |
T501M |
possibly damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm4841 |
G |
T |
18: 60,403,135 (GRCm39) |
D319E |
probably benign |
Het |
| Gucd1 |
A |
G |
10: 75,345,494 (GRCm39) |
F187S |
probably damaging |
Het |
| Hcar2 |
GCGGATGCGCAC |
GC |
5: 124,002,752 (GRCm39) |
|
probably null |
Het |
| Helz2 |
T |
C |
2: 180,880,210 (GRCm39) |
D502G |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,639 (GRCm39) |
E111G |
possibly damaging |
Het |
| Htr2a |
T |
A |
14: 74,882,499 (GRCm39) |
S162T |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,869,623 (GRCm39) |
Y223H |
possibly damaging |
Het |
| Il1rl1 |
A |
G |
1: 40,485,838 (GRCm39) |
K330E |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,400,645 (GRCm39) |
F562I |
probably damaging |
Het |
| Isx |
T |
C |
8: 75,600,487 (GRCm39) |
|
probably null |
Het |
| Jcad |
G |
A |
18: 4,674,055 (GRCm39) |
V606I |
probably benign |
Het |
| Kcnn2 |
A |
T |
18: 45,816,187 (GRCm39) |
T333S |
possibly damaging |
Het |
| Kcnq5 |
C |
T |
1: 21,473,274 (GRCm39) |
A630T |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,028,946 (GRCm39) |
M188V |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,903,086 (GRCm39) |
V321A |
possibly damaging |
Het |
| Krtap4-8 |
A |
T |
11: 99,671,271 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
C |
19: 41,574,334 (GRCm39) |
A1030P |
probably benign |
Het |
| Lgals3bp |
A |
C |
11: 118,289,295 (GRCm39) |
L52R |
probably damaging |
Het |
| Lipk |
C |
A |
19: 33,999,099 (GRCm39) |
H126Q |
probably damaging |
Het |
| Lpgat1 |
T |
C |
1: 191,495,779 (GRCm39) |
Y323H |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,311,517 (GRCm39) |
N2654H |
probably damaging |
Het |
| Lsm14b |
C |
T |
2: 179,669,774 (GRCm39) |
Q6* |
probably null |
Het |
| Lysmd3 |
C |
T |
13: 81,817,584 (GRCm39) |
A187V |
possibly damaging |
Het |
| Map2k5 |
A |
G |
9: 63,201,001 (GRCm39) |
S211P |
probably damaging |
Het |
| Mlph |
A |
T |
1: 90,869,419 (GRCm39) |
I474F |
probably damaging |
Het |
| Mpped2 |
T |
C |
2: 106,614,091 (GRCm39) |
S142P |
probably damaging |
Het |
| Nemf |
A |
C |
12: 69,371,062 (GRCm39) |
M678R |
probably benign |
Het |
| Nfe2l1 |
A |
T |
11: 96,718,515 (GRCm39) |
Y7N |
probably damaging |
Het |
| Nfkbie |
T |
G |
17: 45,867,232 (GRCm39) |
D122E |
probably benign |
Het |
| Noc3l |
C |
A |
19: 38,778,066 (GRCm39) |
A783S |
probably benign |
Het |
| Nol8 |
T |
C |
13: 49,816,229 (GRCm39) |
V761A |
probably damaging |
Het |
| Nvl |
A |
G |
1: 180,929,152 (GRCm39) |
L743P |
probably damaging |
Het |
| Or1j1 |
T |
A |
2: 36,702,484 (GRCm39) |
I207F |
probably benign |
Het |
| Plekhg3 |
G |
T |
12: 76,625,096 (GRCm39) |
G1313C |
possibly damaging |
Het |
| Plekhh1 |
GTCAAA |
G |
12: 79,122,194 (GRCm39) |
|
probably null |
Het |
| Popdc3 |
G |
A |
10: 45,191,002 (GRCm39) |
V38I |
probably benign |
Het |
| Prdx3 |
A |
T |
19: 60,858,551 (GRCm39) |
V114D |
possibly damaging |
Het |
| Prkdc |
T |
A |
16: 15,485,579 (GRCm39) |
S469T |
probably benign |
Het |
| Rbm22 |
G |
A |
18: 60,697,463 (GRCm39) |
R56H |
probably damaging |
Het |
| Reln |
A |
T |
5: 22,491,894 (GRCm39) |
F113I |
possibly damaging |
Het |
| Rims1 |
A |
G |
1: 22,497,731 (GRCm39) |
Y808H |
probably damaging |
Het |
| Rsbn1 |
C |
A |
3: 103,836,336 (GRCm39) |
T458N |
possibly damaging |
Het |
| Serpina3b |
A |
G |
12: 104,096,889 (GRCm39) |
S57G |
possibly damaging |
Het |
| Skor2 |
G |
T |
18: 76,948,878 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
A |
T |
11: 53,879,719 (GRCm39) |
Y447N |
probably damaging |
Het |
| Slco1a7 |
C |
A |
6: 141,668,948 (GRCm39) |
A495S |
probably damaging |
Het |
| Stx19 |
G |
T |
16: 62,642,682 (GRCm39) |
R166L |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,205,869 (GRCm39) |
T170A |
possibly damaging |
Het |
| Sycp2 |
T |
G |
2: 178,016,225 (GRCm39) |
S746R |
probably benign |
Het |
| Tchh |
G |
T |
3: 93,355,189 (GRCm39) |
R1543L |
unknown |
Het |
| Tjp2 |
T |
C |
19: 24,078,169 (GRCm39) |
D908G |
probably damaging |
Het |
| Ttc8 |
C |
A |
12: 98,946,068 (GRCm39) |
A452E |
possibly damaging |
Het |
| Unc5a |
T |
A |
13: 55,151,696 (GRCm39) |
W709R |
probably null |
Het |
| Unc80 |
T |
A |
1: 66,549,951 (GRCm39) |
S736R |
possibly damaging |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,788 (GRCm39) |
H387Q |
probably benign |
Het |
| Vmn2r39 |
C |
T |
7: 9,026,469 (GRCm39) |
|
probably null |
Het |
| Vmn2r88 |
T |
A |
14: 51,650,702 (GRCm39) |
D138E |
probably benign |
Het |
| Vwce |
T |
C |
19: 10,625,831 (GRCm39) |
F448L |
possibly damaging |
Het |
| Wdr75 |
C |
T |
1: 45,861,645 (GRCm39) |
S695F |
probably benign |
Het |
| Zfand4 |
T |
C |
6: 116,265,122 (GRCm39) |
|
probably null |
Het |
| Zfp511 |
T |
A |
7: 139,617,424 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,501,565 (GRCm39) |
K584E |
possibly 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 |
|
|
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 |
|
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'- ACGCTTCTAAAGAGACAGTATTCC -3'
(R):5'- GTCATAAGGAAGCCAGCTGTCTTG -3'
Sequencing Primer
(F):5'- GACAGTATTCCATTTTACCATCCAGG -3'
(R):5'- CCAGCTGTCTTGTGAGAGACTAGC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation