Incidental Mutation 'R0624:Plcb1'
| ID |
58774 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
038813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R0624 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 135136831 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 309
(P309S)
|
| 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: P309S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: P309S
| 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: P309S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: P309S
| 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 |
possibly damaging
Transcript: ENSMUST00000131552
AA Change: P309S
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: P309S
| 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 |
0.0900 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.2%
|
| Validation Efficiency |
98% (88/90) |
| 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: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,030,446 (GRCm39) |
D767V |
probably damaging |
Het |
| Add1 |
T |
A |
5: 34,763,197 (GRCm39) |
N128K |
probably damaging |
Het |
| Ado |
A |
T |
10: 67,384,058 (GRCm39) |
D182E |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,002,761 (GRCm39) |
|
probably benign |
Het |
| Ano10 |
A |
G |
9: 122,088,661 (GRCm39) |
|
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,364,263 (GRCm39) |
|
probably null |
Het |
| Apc2 |
A |
G |
10: 80,150,417 (GRCm39) |
T1795A |
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,418,424 (GRCm39) |
N571D |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,887,344 (GRCm39) |
N891D |
probably benign |
Het |
| Bltp2 |
G |
A |
11: 78,159,283 (GRCm39) |
E494K |
probably damaging |
Het |
| Car3 |
G |
T |
3: 14,931,864 (GRCm39) |
M78I |
probably benign |
Het |
| Cc2d2a |
A |
T |
5: 43,887,371 (GRCm39) |
H1267L |
probably benign |
Het |
| Cdk18 |
A |
G |
1: 132,046,610 (GRCm39) |
L192P |
probably damaging |
Het |
| Cdk9 |
A |
T |
2: 32,599,836 (GRCm39) |
Y134N |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,448,888 (GRCm39) |
T85S |
probably benign |
Het |
| Cenpe |
A |
G |
3: 134,952,347 (GRCm39) |
T1403A |
probably benign |
Het |
| Chd8 |
C |
T |
14: 52,457,214 (GRCm39) |
G918D |
possibly damaging |
Het |
| Csnk1e |
T |
A |
15: 79,304,098 (GRCm39) |
|
probably benign |
Het |
| Dctpp1 |
A |
T |
7: 126,856,365 (GRCm39) |
I119N |
probably damaging |
Het |
| Defb34 |
T |
A |
8: 19,173,784 (GRCm39) |
F6Y |
unknown |
Het |
| Dnai4 |
T |
C |
4: 102,930,054 (GRCm39) |
|
probably benign |
Het |
| Dvl1 |
C |
G |
4: 155,939,232 (GRCm39) |
N248K |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,618,181 (GRCm39) |
|
probably benign |
Het |
| Dync2i1 |
T |
C |
12: 116,211,910 (GRCm39) |
D199G |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,831,738 (GRCm39) |
R407W |
probably damaging |
Het |
| Epb41l5 |
T |
C |
1: 119,551,688 (GRCm39) |
D99G |
probably damaging |
Het |
| Fat1 |
A |
T |
8: 45,504,205 (GRCm39) |
N4566I |
possibly damaging |
Het |
| Gm21834 |
T |
C |
17: 58,049,015 (GRCm39) |
E67G |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,949 (GRCm39) |
|
probably null |
Het |
| Guf1 |
T |
C |
5: 69,715,923 (GRCm39) |
I108T |
probably damaging |
Het |
| Hsd3b5 |
T |
C |
3: 98,526,720 (GRCm39) |
D242G |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,059,114 (GRCm39) |
D467G |
probably null |
Het |
| Lars1 |
A |
G |
18: 42,375,849 (GRCm39) |
|
probably benign |
Het |
| Lrrc56 |
A |
T |
7: 140,786,366 (GRCm39) |
D248V |
probably damaging |
Het |
| Map3k14 |
T |
A |
11: 103,133,117 (GRCm39) |
E27V |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 58,945,123 (GRCm39) |
W116* |
probably null |
Het |
| Mgll |
A |
G |
6: 88,702,799 (GRCm39) |
R33G |
probably damaging |
Het |
| Mmp13 |
A |
G |
9: 7,280,221 (GRCm39) |
S384G |
possibly damaging |
Het |
| Nalcn |
C |
T |
14: 123,607,444 (GRCm39) |
C675Y |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,396,117 (GRCm39) |
L13P |
unknown |
Het |
| Ocstamp |
A |
G |
2: 165,239,772 (GRCm39) |
V138A |
probably damaging |
Het |
| Or12e8 |
T |
G |
2: 87,188,026 (GRCm39) |
Y79* |
probably null |
Het |
| Or2z8 |
T |
A |
8: 72,812,006 (GRCm39) |
S161T |
possibly damaging |
Het |
| Or4a68 |
A |
G |
2: 89,270,482 (GRCm39) |
V47A |
possibly damaging |
Het |
| Or4f7 |
T |
C |
2: 111,645,056 (GRCm39) |
N5S |
probably damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,323 (GRCm39) |
S206P |
possibly damaging |
Het |
| Or9i1b |
T |
G |
19: 13,896,808 (GRCm39) |
C141W |
probably damaging |
Het |
| Patj |
T |
C |
4: 98,569,472 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
G |
18: 37,651,780 (GRCm39) |
I83V |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,719,670 (GRCm39) |
E1269G |
unknown |
Het |
| Plagl2 |
T |
C |
2: 153,077,973 (GRCm39) |
T3A |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,239,000 (GRCm39) |
L175Q |
possibly damaging |
Het |
| Prrx1 |
A |
G |
1: 163,075,974 (GRCm39) |
|
probably benign |
Het |
| Psap |
T |
G |
10: 60,135,345 (GRCm39) |
|
probably benign |
Het |
| Ptgfr |
G |
A |
3: 151,540,839 (GRCm39) |
T223M |
probably damaging |
Het |
| Reep2 |
A |
T |
18: 34,973,824 (GRCm39) |
I6F |
probably benign |
Het |
| Rraga |
A |
G |
4: 86,494,454 (GRCm39) |
E100G |
probably benign |
Het |
| Rrm2b |
T |
C |
15: 37,931,889 (GRCm39) |
D37G |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,559,153 (GRCm39) |
I895M |
probably damaging |
Het |
| Ryr1 |
G |
A |
7: 28,774,034 (GRCm39) |
A2445V |
probably damaging |
Het |
| Sbf1 |
C |
T |
15: 89,186,532 (GRCm39) |
D898N |
possibly damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
| Shf |
C |
A |
2: 122,199,116 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,086,676 (GRCm39) |
E638G |
probably damaging |
Het |
| Slc13a3 |
G |
T |
2: 165,253,807 (GRCm39) |
P449T |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,234,215 (GRCm39) |
V374I |
possibly damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,794,059 (GRCm38) |
|
probably null |
Het |
| Slc7a2 |
T |
A |
8: 41,361,568 (GRCm39) |
S414T |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,393,719 (GRCm39) |
E554G |
probably benign |
Het |
| Smad2 |
T |
C |
18: 76,433,064 (GRCm39) |
I332T |
probably damaging |
Het |
| Snrnp40 |
C |
T |
4: 130,256,451 (GRCm39) |
P59S |
probably damaging |
Het |
| Sorcs2 |
A |
T |
5: 36,222,777 (GRCm39) |
I154N |
probably damaging |
Het |
| Sort1 |
G |
A |
3: 108,255,946 (GRCm39) |
G631S |
probably damaging |
Het |
| Sox10 |
T |
C |
15: 79,043,586 (GRCm39) |
D149G |
possibly damaging |
Het |
| Spn |
C |
T |
7: 126,735,380 (GRCm39) |
V376M |
possibly damaging |
Het |
| Tacc2 |
A |
G |
7: 130,179,239 (GRCm39) |
D9G |
probably damaging |
Het |
| Tapt1 |
T |
G |
5: 44,334,448 (GRCm39) |
L514F |
possibly damaging |
Het |
| Tcf3 |
A |
G |
10: 80,249,168 (GRCm39) |
L480P |
probably damaging |
Het |
| Tenm4 |
G |
C |
7: 96,423,227 (GRCm39) |
G637A |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,411,525 (GRCm39) |
N950K |
probably benign |
Het |
| Tgfbrap1 |
T |
G |
1: 43,098,289 (GRCm39) |
H497P |
probably benign |
Het |
| Tnfrsf18 |
A |
T |
4: 156,110,986 (GRCm39) |
Y48F |
possibly damaging |
Het |
| Tnxb |
A |
C |
17: 34,902,522 (GRCm39) |
H1002P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,593,571 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
C |
G |
5: 87,041,591 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
G |
19: 27,215,663 (GRCm39) |
D220G |
possibly damaging |
Het |
| Vmn1r33 |
A |
T |
6: 66,589,121 (GRCm39) |
Y144* |
probably null |
Het |
| Xrcc4 |
T |
C |
13: 90,140,594 (GRCm39) |
E205G |
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 |
|
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'- TAGCACACGTCGCGTGTTGCTATC -3'
(R):5'- AGGTCAGCAAGGCAACTCAAGTCC -3'
Sequencing Primer
(F):5'- GGTGATTTACCCAGAGTTAACCC -3'
(R):5'- GCAACTCAAGTCCCCAGAGG -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation