Incidental Mutation 'R8950:Plcb1'
| ID |
681551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.226)
|
| Stock # |
R8950 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134786067-135475258 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 135337519 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 616
(N616D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105743
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070724
AA Change: N616D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: N616D
| 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: N616D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: N616D
| 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: N616D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: N616D
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530053A07Rik |
A |
G |
7: 28,164,326 (GRCm38) |
R2508G |
probably benign |
Het |
| Abca14 |
T |
A |
7: 120,224,421 (GRCm38) |
Y390* |
probably null |
Het |
| Abca14 |
T |
C |
7: 120,224,372 (GRCm38) |
F374S |
possibly damaging |
Het |
| Abca9 |
T |
C |
11: 110,163,380 (GRCm38) |
|
probably null |
Het |
| Anxa1 |
G |
T |
19: 20,375,298 (GRCm38) |
S304* |
probably null |
Het |
| Aspm |
G |
A |
1: 139,478,952 (GRCm38) |
R1859Q |
probably damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,378,496 (GRCm38) |
N14K |
probably damaging |
Het |
| Bmpr1a |
G |
T |
14: 34,441,191 (GRCm38) |
H81N |
possibly damaging |
Het |
| Camkv |
C |
T |
9: 107,947,097 (GRCm38) |
T236I |
probably damaging |
Het |
| Carm1 |
T |
A |
9: 21,579,493 (GRCm38) |
M219K |
probably damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,598,511 (GRCm38) |
R1352G |
probably benign |
Het |
| Cib1 |
A |
G |
7: 80,228,463 (GRCm38) |
L89P |
probably damaging |
Het |
| Col6a5 |
C |
T |
9: 105,945,634 (GRCm38) |
E175K |
unknown |
Het |
| Crebbp |
A |
G |
16: 4,213,159 (GRCm38) |
F22S |
probably damaging |
Het |
| Csf2rb |
A |
T |
15: 78,348,320 (GRCm38) |
D609V |
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,676,623 (GRCm38) |
|
probably null |
Het |
| Dchs1 |
A |
T |
7: 105,759,005 (GRCm38) |
H1873Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,290,439 (GRCm38) |
D1901G |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,541,299 (GRCm38) |
T1235N |
probably benign |
Het |
| Eddm3b |
T |
A |
14: 51,116,653 (GRCm38) |
S33T |
probably damaging |
Het |
| Fam151b |
A |
T |
13: 92,474,059 (GRCm38) |
M74K |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,023,121 (GRCm38) |
F1735I |
probably damaging |
Het |
| Fip1l1 |
T |
G |
5: 74,595,863 (GRCm38) |
S505R |
probably damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,089,825 (GRCm38) |
|
probably benign |
Het |
| Gm609 |
A |
T |
16: 45,442,644 (GRCm38) |
V44D |
possibly damaging |
Het |
| Gpr180 |
A |
G |
14: 118,158,040 (GRCm38) |
I295V |
probably benign |
Het |
| Gtf3c2 |
G |
A |
5: 31,173,807 (GRCm38) |
T175I |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,354,729 (GRCm38) |
Y733H |
probably damaging |
Het |
| Irs1 |
T |
A |
1: 82,286,931 (GRCm38) |
Q1188L |
probably benign |
Het |
| Kcnk5 |
T |
C |
14: 20,141,978 (GRCm38) |
R372G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,613,926 (GRCm38) |
N746K |
possibly damaging |
Het |
| Kdm7a |
T |
C |
6: 39,146,969 (GRCm38) |
I754V |
probably benign |
Het |
| Mad2l1bp |
G |
A |
17: 46,147,965 (GRCm38) |
T213I |
possibly damaging |
Het |
| Map2 |
G |
T |
1: 66,380,525 (GRCm38) |
R5L |
probably damaging |
Het |
| Map4 |
G |
A |
9: 110,072,634 (GRCm38) |
V781M |
possibly damaging |
Het |
| Mbd2 |
A |
G |
18: 70,580,793 (GRCm38) |
D231G |
probably damaging |
Het |
| Negr1 |
C |
A |
3: 157,016,269 (GRCm38) |
P160Q |
probably damaging |
Het |
| Nfya |
A |
T |
17: 48,393,461 (GRCm38) |
|
probably benign |
Het |
| Nlk |
T |
C |
11: 78,695,932 (GRCm38) |
Q112R |
probably benign |
Het |
| Obscn |
C |
A |
11: 59,056,183 (GRCm38) |
A4339S |
probably damaging |
Het |
| Olfr139 |
A |
G |
11: 74,044,956 (GRCm38) |
F106S |
possibly damaging |
Het |
| Olfr1451 |
A |
T |
19: 12,999,081 (GRCm38) |
I32F |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,437,537 (GRCm38) |
T579A |
probably benign |
Het |
| Pcdhb2 |
G |
A |
18: 37,296,662 (GRCm38) |
V563M |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm38) |
|
probably benign |
Het |
| Piezo1 |
T |
C |
8: 122,481,990 (GRCm38) |
R2545G |
probably benign |
Het |
| Pogk |
A |
T |
1: 166,398,825 (GRCm38) |
F586I |
probably damaging |
Het |
| Prkg2 |
T |
A |
5: 98,971,956 (GRCm38) |
I435F |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,177,666 (GRCm38) |
T35A |
probably damaging |
Het |
| Rad17 |
A |
G |
13: 100,631,068 (GRCm38) |
S342P |
probably damaging |
Het |
| Rpl36-ps4 |
A |
G |
17: 87,921,146 (GRCm38) |
T40A |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,517,152 (GRCm38) |
T1247A |
unknown |
Het |
| Slc22a14 |
A |
G |
9: 119,169,710 (GRCm38) |
L182P |
possibly damaging |
Het |
| Slc35b3 |
T |
C |
13: 38,954,121 (GRCm38) |
D104G |
probably damaging |
Het |
| Sult2a1 |
A |
G |
7: 13,796,417 (GRCm38) |
F266L |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,733,559 (GRCm38) |
M1L |
probably damaging |
Het |
| Tat |
T |
A |
8: 109,991,705 (GRCm38) |
I74N |
probably damaging |
Het |
| Trappc6a |
G |
T |
7: 19,515,998 (GRCm38) |
|
probably benign |
Het |
| Twistnb |
T |
A |
12: 33,433,527 (GRCm38) |
Y93N |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,846,267 (GRCm38) |
E193G |
possibly damaging |
Het |
| Virma |
C |
T |
4: 11,519,047 (GRCm38) |
Q765* |
probably null |
Het |
| Vmn1r46 |
T |
C |
6: 89,977,071 (GRCm38) |
S301P |
probably damaging |
Het |
| Vmn2r116 |
A |
T |
17: 23,401,493 (GRCm38) |
I734F |
probably damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,491,101 (GRCm38) |
V819D |
probably damaging |
Het |
| Vmn2r74 |
A |
G |
7: 85,957,361 (GRCm38) |
I259T |
probably damaging |
Het |
| Vps13a |
A |
G |
19: 16,745,976 (GRCm38) |
I286T |
probably damaging |
Het |
| Wdr73 |
T |
C |
7: 80,900,383 (GRCm38) |
I55V |
probably benign |
Het |
| Znhit2 |
A |
T |
19: 6,061,773 (GRCm38) |
R183* |
probably null |
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 |
|
R5809:Plcb1
|
UTSW |
2 |
135,262,244 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
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 |
|
|
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'- GCATATCTCACCCATCGATTCG -3'
(R):5'- TGTCAGTACACATATGACTGTAGG -3'
Sequencing Primer
(F):5'- AATATCTATTTTGTTTCCCCAGTGAG -3'
(R):5'- ACTGTAGGAAAATAGCATGAAATCC -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation