Incidental Mutation 'R5809:Plcb1'
| ID |
448886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
043394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R5809 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135262244 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 278
(Y278H)
|
| 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: Y278H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: Y278H
| 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: Y278H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: Y278H
| 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: Y278H
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: Y278H
| 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
|
| Meta Mutation Damage Score |
0.6756 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (77/78) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810403A07Rik |
A |
G |
3: 88,708,885 (GRCm38) |
R460G |
probably damaging |
Het |
| A230072I06Rik |
A |
G |
8: 12,279,556 (GRCm38) |
S4G |
unknown |
Het |
| AA623943 |
T |
C |
11: 94,813,002 (GRCm38) |
|
noncoding transcript |
Het |
| Abca13 |
T |
A |
11: 9,293,692 (GRCm38) |
S1852T |
probably damaging |
Het |
| Ackr2 |
G |
A |
9: 121,909,474 (GRCm38) |
C305Y |
probably damaging |
Het |
| Aebp1 |
T |
C |
11: 5,870,257 (GRCm38) |
V411A |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,126,548 (GRCm38) |
R269H |
probably benign |
Het |
| Alox15 |
C |
A |
11: 70,350,882 (GRCm38) |
G58W |
probably damaging |
Het |
| Ankle2 |
A |
G |
5: 110,237,990 (GRCm38) |
N369S |
probably damaging |
Het |
| Ankrd28 |
T |
A |
14: 31,743,354 (GRCm38) |
I289L |
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,433,987 (GRCm38) |
T714S |
possibly damaging |
Het |
| Birc6 |
A |
C |
17: 74,670,374 (GRCm38) |
N4388T |
probably damaging |
Het |
| Blm |
A |
T |
7: 80,464,844 (GRCm38) |
L1159Q |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,504,547 (GRCm38) |
V770I |
probably benign |
Het |
| Ccdc148 |
T |
A |
2: 58,823,645 (GRCm38) |
H498L |
probably damaging |
Het |
| Cdh26 |
T |
A |
2: 178,460,126 (GRCm38) |
Y179* |
probably null |
Het |
| Cela2a |
T |
A |
4: 141,825,553 (GRCm38) |
T38S |
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,933,341 (GRCm38) |
N496K |
probably damaging |
Het |
| Cep89 |
A |
G |
7: 35,417,726 (GRCm38) |
Y251C |
probably damaging |
Het |
| Cluh |
T |
C |
11: 74,661,700 (GRCm38) |
S524P |
probably damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,872,801 (GRCm38) |
S172P |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,847,377 (GRCm38) |
S705P |
probably damaging |
Het |
| D730048I06Rik |
C |
T |
9: 35,789,001 (GRCm38) |
C96Y |
probably damaging |
Het |
| Dock2 |
T |
G |
11: 34,262,445 (GRCm38) |
D1232A |
probably benign |
Het |
| Donson |
T |
C |
16: 91,687,850 (GRCm38) |
N9S |
possibly damaging |
Het |
| Gdf9 |
T |
C |
11: 53,433,554 (GRCm38) |
L50P |
probably benign |
Het |
| Gm10300 |
C |
T |
4: 132,075,147 (GRCm38) |
|
probably benign |
Het |
| Gm8369 |
A |
G |
19: 11,504,884 (GRCm38) |
|
probably benign |
Het |
| Gm8674 |
T |
A |
13: 49,901,888 (GRCm38) |
|
noncoding transcript |
Het |
| Hepacam |
T |
A |
9: 37,384,805 (GRCm38) |
S417R |
possibly damaging |
Het |
| Hibch |
T |
A |
1: 52,853,700 (GRCm38) |
L23Q |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,649,607 (GRCm38) |
R3389C |
probably damaging |
Het |
| Hsp90ab1 |
G |
T |
17: 45,570,649 (GRCm38) |
|
probably benign |
Het |
| Hunk |
C |
A |
16: 90,475,903 (GRCm38) |
T365K |
probably damaging |
Het |
| Il12a |
A |
T |
3: 68,695,262 (GRCm38) |
|
probably benign |
Het |
| Ints13 |
A |
G |
6: 146,576,349 (GRCm38) |
V34A |
probably benign |
Het |
| Intu |
A |
C |
3: 40,679,590 (GRCm38) |
M418L |
probably damaging |
Het |
| Klra9 |
A |
G |
6: 130,179,073 (GRCm38) |
S240P |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,512,290 (GRCm38) |
D100N |
probably benign |
Het |
| Ndrg1 |
A |
G |
15: 66,930,850 (GRCm38) |
|
probably benign |
Het |
| Olfr181 |
T |
C |
16: 58,926,497 (GRCm38) |
T25A |
probably benign |
Het |
| Olfr739 |
T |
C |
14: 50,425,448 (GRCm38) |
*310Q |
probably null |
Het |
| Pax7 |
A |
G |
4: 139,830,371 (GRCm38) |
S30P |
probably damaging |
Het |
| Pdcd11 |
A |
T |
19: 47,093,808 (GRCm38) |
T54S |
probably benign |
Het |
| Pex19 |
T |
C |
1: 172,130,739 (GRCm38) |
V95A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,519,707 (GRCm38) |
I1121V |
probably benign |
Het |
| Pklr |
A |
T |
3: 89,141,784 (GRCm38) |
I146F |
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,696,001 (GRCm38) |
I167N |
probably damaging |
Het |
| Plekhh1 |
A |
T |
12: 79,078,687 (GRCm38) |
I1241F |
probably benign |
Het |
| Plxnb2 |
G |
T |
15: 89,167,571 (GRCm38) |
D148E |
possibly damaging |
Het |
| Pthlh |
T |
C |
6: 147,257,247 (GRCm38) |
I72V |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,785,756 (GRCm38) |
R880Q |
probably benign |
Het |
| Rrp36 |
T |
C |
17: 46,668,006 (GRCm38) |
K209E |
probably damaging |
Het |
| Scarb1 |
A |
G |
5: 125,304,222 (GRCm38) |
V86A |
probably damaging |
Het |
| Sh2d7 |
A |
C |
9: 54,539,576 (GRCm38) |
S37R |
probably benign |
Het |
| Slc13a2 |
A |
T |
11: 78,397,821 (GRCm38) |
V543E |
probably damaging |
Het |
| Smarcal1 |
A |
G |
1: 72,591,137 (GRCm38) |
T117A |
probably benign |
Het |
| Smok2a |
A |
G |
17: 13,226,978 (GRCm38) |
R481G |
possibly damaging |
Het |
| Smr2 |
G |
A |
5: 88,108,840 (GRCm38) |
A126T |
probably benign |
Het |
| Sspo |
G |
T |
6: 48,460,045 (GRCm38) |
W1304C |
possibly damaging |
Het |
| Svep1 |
A |
G |
4: 58,116,524 (GRCm38) |
S909P |
possibly damaging |
Het |
| Tchh |
A |
T |
3: 93,445,573 (GRCm38) |
K773N |
unknown |
Het |
| Tmem156 |
T |
C |
5: 65,075,607 (GRCm38) |
N140S |
possibly damaging |
Het |
| Tmem213 |
T |
C |
6: 38,115,654 (GRCm38) |
I107T |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,511,579 (GRCm38) |
Y161C |
probably damaging |
Het |
| Trappc8 |
C |
T |
18: 20,818,082 (GRCm38) |
A1436T |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,965,511 (GRCm38) |
Y933C |
possibly damaging |
Het |
| Ufm1 |
A |
T |
3: 53,857,882 (GRCm38) |
|
probably benign |
Het |
| Wdr27 |
A |
T |
17: 14,883,669 (GRCm38) |
L725Q |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,305,876 (GRCm38) |
D1138G |
possibly damaging |
Het |
| Zkscan16 |
G |
A |
4: 58,946,481 (GRCm38) |
V119M |
probably damaging |
Het |
| Zmat5 |
A |
G |
11: 4,722,431 (GRCm38) |
D16G |
probably damaging |
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 |
|
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 |
|
R8061:Plcb1
|
UTSW |
2 |
135,346,396 (GRCm38) |
missense |
probably benign |
|
|
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'- AAGTTGTGGAACAGACTGTGATTTC -3'
(R):5'- TGGCTTGCACCACAAACAG -3'
Sequencing Primer
(F):5'- GGAACAGACTGTGATTTCTTCTC -3'
(R):5'- GGCTTGCACCACAAACAGAACTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation