Incidental Mutation 'R7498:Plcb1'
| ID |
581187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
045571-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R7498 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 135104153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 274
(L274*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000070724
AA Change: L274*
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: L274*
| 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 null
Transcript: ENSMUST00000110116
AA Change: L274*
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: L274*
| 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 null
Transcript: ENSMUST00000131552
AA Change: L274*
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: L274*
| 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 |
0.9754 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (75/76) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
G |
A |
2: 68,498,012 (GRCm39) |
E148K |
unknown |
Het |
| Adgrl2 |
T |
A |
3: 148,564,852 (GRCm39) |
K243* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Ahnak |
A |
T |
19: 8,989,383 (GRCm39) |
I3556F |
probably benign |
Het |
| Akap6 |
C |
T |
12: 53,189,488 (GRCm39) |
R2301* |
probably null |
Het |
| Alg6 |
A |
G |
4: 99,636,933 (GRCm39) |
T305A |
probably damaging |
Het |
| Alpk1 |
C |
T |
3: 127,473,427 (GRCm39) |
A859T |
probably benign |
Het |
| Apba3 |
T |
A |
10: 81,104,735 (GRCm39) |
F3I |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,967,465 (GRCm39) |
E4151G |
probably damaging |
Het |
| Bmp2k |
T |
A |
5: 97,235,978 (GRCm39) |
F1134I |
probably benign |
Het |
| C6 |
A |
T |
15: 4,792,846 (GRCm39) |
H317L |
probably damaging |
Het |
| Catsperg2 |
G |
A |
7: 29,416,527 (GRCm39) |
S295L |
possibly damaging |
Het |
| Ccdc142 |
G |
T |
6: 83,080,212 (GRCm39) |
R385L |
possibly damaging |
Het |
| Ciz1 |
A |
T |
2: 32,261,761 (GRCm39) |
M482L |
probably benign |
Het |
| Crisp3 |
A |
G |
17: 40,536,693 (GRCm39) |
|
probably null |
Het |
| Dcaf15 |
G |
A |
8: 84,828,392 (GRCm39) |
P233S |
probably damaging |
Het |
| Def8 |
A |
G |
8: 124,174,583 (GRCm39) |
N16S |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,364,925 (GRCm39) |
S3569A |
probably damaging |
Het |
| Dok6 |
C |
T |
18: 89,787,443 (GRCm39) |
|
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,376,464 (GRCm39) |
T233S |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,044 (GRCm39) |
V1325D |
unknown |
Het |
| Fancm |
T |
A |
12: 65,146,165 (GRCm39) |
H629Q |
probably benign |
Het |
| Fbxo10 |
T |
C |
4: 45,062,194 (GRCm39) |
S111G |
probably benign |
Het |
| Fbxo21 |
T |
C |
5: 118,140,239 (GRCm39) |
|
probably null |
Het |
| Fdx1 |
A |
C |
9: 51,859,898 (GRCm39) |
L144R |
probably damaging |
Het |
| Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
| Flot2 |
G |
A |
11: 77,944,188 (GRCm39) |
|
probably null |
Het |
| Fndc10 |
C |
T |
4: 155,779,195 (GRCm39) |
R80C |
probably damaging |
Het |
| Fut8 |
A |
T |
12: 77,459,708 (GRCm39) |
T274S |
probably benign |
Het |
| Gli2 |
T |
C |
1: 118,763,565 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
| Hdlbp |
T |
A |
1: 93,341,337 (GRCm39) |
H1007L |
probably benign |
Het |
| Hmcn2 |
A |
C |
2: 31,273,487 (GRCm39) |
|
probably null |
Het |
| Inhbb |
C |
T |
1: 119,345,608 (GRCm39) |
R227H |
probably damaging |
Het |
| Kifc1 |
A |
G |
17: 34,102,846 (GRCm39) |
F256L |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,494,790 (GRCm39) |
F326Y |
probably damaging |
Het |
| Mcmdc2 |
T |
C |
1: 9,989,302 (GRCm39) |
V242A |
probably benign |
Het |
| Mettl8 |
A |
C |
2: 70,795,969 (GRCm39) |
V306G |
probably damaging |
Het |
| Mog |
A |
T |
17: 37,322,984 (GRCm39) |
|
probably null |
Het |
| Morc2b |
G |
A |
17: 33,356,833 (GRCm39) |
A313V |
possibly damaging |
Het |
| Myh3 |
A |
G |
11: 66,987,874 (GRCm39) |
N1449S |
possibly damaging |
Het |
| Myh8 |
C |
A |
11: 67,174,263 (GRCm39) |
T200K |
possibly damaging |
Het |
| Myo16 |
T |
A |
8: 10,450,589 (GRCm39) |
H530Q |
unknown |
Het |
| Neb |
C |
T |
2: 52,148,188 (GRCm39) |
R2686H |
probably damaging |
Het |
| Nudt2 |
T |
C |
4: 41,480,539 (GRCm39) |
F141L |
possibly damaging |
Het |
| Obscn |
G |
A |
11: 58,973,539 (GRCm39) |
H1931Y |
probably damaging |
Het |
| Odad3 |
A |
G |
9: 21,913,553 (GRCm39) |
I73T |
probably damaging |
Het |
| Or10al5 |
A |
G |
17: 38,063,242 (GRCm39) |
T166A |
probably damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,575 (GRCm39) |
V211D |
possibly damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,623 (GRCm39) |
C141* |
probably null |
Het |
| Potefam3d |
A |
C |
8: 69,972,475 (GRCm39) |
Y91* |
probably null |
Het |
| Prc1 |
C |
T |
7: 79,962,898 (GRCm39) |
T564M |
possibly damaging |
Het |
| Psd4 |
G |
A |
2: 24,296,996 (GRCm39) |
R923Q |
probably damaging |
Het |
| Ptprj |
G |
A |
2: 90,266,909 (GRCm39) |
Q1300* |
probably null |
Het |
| Rapgef6 |
G |
T |
11: 54,510,830 (GRCm39) |
R249L |
probably damaging |
Het |
| Slain1 |
G |
A |
14: 103,893,429 (GRCm39) |
|
probably null |
Het |
| Slfn9 |
A |
T |
11: 82,873,013 (GRCm39) |
I630N |
probably damaging |
Het |
| Smg6 |
G |
A |
11: 74,819,932 (GRCm39) |
A68T |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,127,113 (GRCm39) |
T1966S |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,727,625 (GRCm39) |
M153L |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,519,418 (GRCm39) |
M357L |
probably benign |
Het |
| Tal1 |
A |
T |
4: 114,925,879 (GRCm39) |
H316L |
possibly damaging |
Het |
| Tenm4 |
A |
G |
7: 96,497,224 (GRCm39) |
E1207G |
probably damaging |
Het |
| Tmem64 |
C |
A |
4: 15,266,176 (GRCm39) |
H75Q |
probably benign |
Het |
| Tor4a |
A |
G |
2: 25,085,804 (GRCm39) |
V33A |
probably benign |
Het |
| Traj52 |
C |
T |
14: 54,402,818 (GRCm39) |
T15I |
|
Het |
| Trim50 |
G |
A |
5: 135,392,768 (GRCm39) |
V228M |
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,858,657 (GRCm39) |
I360F |
possibly damaging |
Het |
| Trpm6 |
A |
T |
19: 18,853,484 (GRCm39) |
R1835W |
probably damaging |
Het |
| Ubn1 |
T |
C |
16: 4,894,969 (GRCm39) |
S672P |
probably damaging |
Het |
| Ugt2a2 |
C |
T |
5: 87,622,500 (GRCm39) |
C156Y |
probably damaging |
Het |
| Wnk1 |
T |
C |
6: 119,904,157 (GRCm39) |
S2223G |
unknown |
Het |
| Wnt7b |
G |
T |
15: 85,427,880 (GRCm39) |
A194E |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 120,940,028 (GRCm39) |
V206A |
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 |
|
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 |
|
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'- AAGTTGTGGAACAGACTGTGATTTC -3'
(R):5'- TGGCTTGCACCACAAACAG -3'
Sequencing Primer
(F):5'- GGAACAGACTGTGATTTCTTCTC -3'
(R):5'- GGCTTGCACCACAAACAGAACTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation