Incidental Mutation 'R5523:Plcb1'
| ID |
431648 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcb1
|
| Ensembl Gene |
ENSMUSG00000051177 |
| Gene Name |
phospholipase C, beta 1 |
| Synonyms |
3110043I21Rik |
| MMRRC Submission |
043265-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.204)
|
| Stock # |
R5523 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
134628084-135317178 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 135102486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Histidine
at position 221
(P221H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
| AlphaFold |
Q9Z1B3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070724
AA Change: P221H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000064844
Gene: ENSMUSG00000051177
AA Change: P221H
| 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 benign
Transcript: ENSMUST00000110116
AA Change: P221H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000105743
Gene: ENSMUSG00000051177
AA Change: P221H
| 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 |
probably benign
Transcript: ENSMUST00000131552
AA Change: P221H
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118756
Gene: ENSMUSG00000051177
AA Change: P221H
| 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
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.4%
- 20x: 91.4%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
G |
A |
3: 153,644,273 (GRCm39) |
T70M |
probably benign |
Het |
| Adamtsl3 |
G |
A |
7: 82,223,650 (GRCm39) |
A218T |
possibly damaging |
Het |
| Ahnak2 |
T |
C |
12: 112,741,642 (GRCm39) |
D810G |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,707,341 (GRCm39) |
L315* |
probably null |
Het |
| Apoa5 |
T |
C |
9: 46,181,887 (GRCm39) |
F321S |
possibly damaging |
Het |
| Baiap2l1 |
G |
C |
5: 144,212,768 (GRCm39) |
P416A |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,835,432 (GRCm39) |
I128V |
possibly damaging |
Het |
| Bpifb2 |
T |
C |
2: 153,717,905 (GRCm39) |
|
probably benign |
Het |
| Cdt1 |
G |
A |
8: 123,294,832 (GRCm39) |
R13H |
possibly damaging |
Het |
| Cenpj |
A |
G |
14: 56,789,880 (GRCm39) |
V723A |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,685,675 (GRCm39) |
W849R |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,267,192 (GRCm39) |
D169G |
probably damaging |
Het |
| Cyp2d22 |
A |
G |
15: 82,256,772 (GRCm39) |
V334A |
probably damaging |
Het |
| Cyp4f39 |
C |
A |
17: 32,689,807 (GRCm39) |
N84K |
probably benign |
Het |
| Cyp4f40 |
T |
A |
17: 32,888,796 (GRCm39) |
F192I |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,342,554 (GRCm39) |
D632G |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,352,416 (GRCm39) |
R2523Q |
probably damaging |
Het |
| Echs1 |
G |
T |
7: 139,692,426 (GRCm39) |
T107K |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,843,580 (GRCm39) |
V17I |
probably damaging |
Het |
| Fank1 |
G |
T |
7: 133,478,569 (GRCm39) |
C210F |
probably damaging |
Het |
| Fbxo15 |
T |
G |
18: 84,978,194 (GRCm39) |
M136R |
probably damaging |
Het |
| Ggcx |
C |
A |
6: 72,401,017 (GRCm39) |
P240H |
probably damaging |
Het |
| Gpr179 |
T |
C |
11: 97,227,608 (GRCm39) |
R1516G |
probably benign |
Het |
| Gprin3 |
G |
A |
6: 59,330,931 (GRCm39) |
Q459* |
probably null |
Het |
| Hadha |
C |
A |
5: 30,350,252 (GRCm39) |
V99F |
possibly damaging |
Het |
| Hirip3 |
A |
G |
7: 126,463,034 (GRCm39) |
D330G |
possibly damaging |
Het |
| Irx2 |
T |
C |
13: 72,779,714 (GRCm39) |
W333R |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,841,271 (GRCm39) |
T10A |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,723,211 (GRCm39) |
I467T |
probably benign |
Het |
| Klc3 |
A |
T |
7: 19,130,932 (GRCm39) |
I215N |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,504,337 (GRCm39) |
V3657A |
probably benign |
Het |
| Lin28b |
A |
T |
10: 45,345,164 (GRCm39) |
L54* |
probably null |
Het |
| Mgll |
T |
C |
6: 88,702,743 (GRCm39) |
V14A |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,234,408 (GRCm39) |
N976S |
probably benign |
Het |
| Myh8 |
C |
A |
11: 67,196,788 (GRCm39) |
A1807E |
possibly damaging |
Het |
| Nalcn |
G |
A |
14: 123,647,155 (GRCm39) |
P573S |
probably damaging |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Neb |
T |
C |
2: 52,168,827 (GRCm39) |
S1903G |
probably benign |
Het |
| Nfe2 |
T |
A |
15: 103,157,556 (GRCm39) |
D145V |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,687 (GRCm39) |
Y295* |
probably null |
Het |
| Padi1 |
A |
T |
4: 140,542,164 (GRCm39) |
V586D |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,416,192 (GRCm39) |
D311G |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,145,439 (GRCm39) |
H510L |
probably damaging |
Het |
| Plekhg2 |
A |
T |
7: 28,069,856 (GRCm39) |
V58E |
probably damaging |
Het |
| Pparg |
A |
C |
6: 115,467,032 (GRCm39) |
Q435P |
probably damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,484,892 (GRCm39) |
T282A |
possibly damaging |
Het |
| Prcd |
T |
C |
11: 116,559,110 (GRCm39) |
|
probably benign |
Het |
| Pygo1 |
A |
T |
9: 72,852,266 (GRCm39) |
H151L |
possibly damaging |
Het |
| Rnmt |
A |
G |
18: 68,446,773 (GRCm39) |
Y266C |
probably benign |
Het |
| Rxrb |
T |
C |
17: 34,255,411 (GRCm39) |
V246A |
probably damaging |
Het |
| Sart1 |
A |
G |
19: 5,433,704 (GRCm39) |
S378P |
probably damaging |
Het |
| Sema4d |
T |
C |
13: 51,865,390 (GRCm39) |
N318S |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,798,754 (GRCm39) |
V1765I |
probably benign |
Het |
| Slc17a6 |
A |
T |
7: 51,276,598 (GRCm39) |
K116* |
probably null |
Het |
| Smc6 |
T |
A |
12: 11,341,540 (GRCm39) |
H519Q |
probably benign |
Het |
| Sowahc |
T |
A |
10: 59,058,785 (GRCm39) |
M307K |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,087,560 (GRCm39) |
Y960H |
probably damaging |
Het |
| Tmem270 |
A |
C |
5: 134,931,636 (GRCm39) |
V102G |
probably benign |
Het |
| Tmprss11d |
A |
G |
5: 86,486,729 (GRCm39) |
F54L |
probably benign |
Het |
| Top1 |
T |
A |
2: 160,544,695 (GRCm39) |
Y270* |
probably null |
Het |
| Trpm2 |
A |
G |
10: 77,771,795 (GRCm39) |
F615L |
probably benign |
Het |
| Ttf2 |
A |
G |
3: 100,866,558 (GRCm39) |
S525P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,777,241 (GRCm39) |
M1387K |
possibly damaging |
Het |
| Upk3bl |
A |
T |
5: 136,088,954 (GRCm39) |
R156W |
probably damaging |
Het |
| Usp34 |
G |
T |
11: 23,299,198 (GRCm39) |
R290L |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,620,005 (GRCm39) |
V1561A |
|
Het |
| Zan |
A |
G |
5: 137,420,155 (GRCm39) |
I2834T |
unknown |
Het |
| Zfp105 |
A |
G |
9: 122,755,454 (GRCm39) |
Y90C |
probably benign |
Het |
| Zfp804a |
T |
C |
2: 82,089,339 (GRCm39) |
V1056A |
probably damaging |
Het |
| Zfp956 |
A |
T |
6: 47,930,455 (GRCm39) |
|
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 |
|
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'- TTGGCCTCAGAGGTGTTCTC -3'
(R):5'- AAGGCCAGTAGCAGATTGTCAC -3'
Sequencing Primer
(F):5'- CCTTGGACTGGTTTGGCAAAAAG -3'
(R):5'- AGTAGCAGATTGTCACCTCCTTCAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation