Incidental Mutation 'R8693:Plcb1'
ID |
668481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcb1
|
Ensembl Gene |
ENSMUSG00000051177 |
Gene Name |
phospholipase C, beta 1 |
Synonyms |
3110043I21Rik |
MMRRC Submission |
068547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.226)
|
Stock # |
R8693 (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 135252776 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 174
(I174V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105743
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070724]
[ENSMUST00000110116]
[ENSMUST00000131552]
|
AlphaFold |
Q9Z1B3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070724
AA Change: I174V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000064844 Gene: ENSMUSG00000051177 AA Change: I174V
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: I174V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105743 Gene: ENSMUSG00000051177 AA Change: I174V
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 benign
Transcript: ENSMUST00000131552
AA Change: I174V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118756 Gene: ENSMUSG00000051177 AA Change: I174V
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410089E03Rik |
T |
C |
15: 8,229,008 (GRCm38) |
M2246T |
probably benign |
Het |
Abcc2 |
T |
C |
19: 43,822,035 (GRCm38) |
S924P |
probably benign |
Het |
Acacb |
A |
G |
5: 114,226,783 (GRCm38) |
H1508R |
probably damaging |
Het |
Adam34 |
T |
C |
8: 43,651,604 (GRCm38) |
M335V |
probably benign |
Het |
Akap8 |
A |
T |
17: 32,310,651 (GRCm38) |
N438K |
probably damaging |
Het |
Alpi |
C |
A |
1: 87,098,683 (GRCm38) |
G529C |
unknown |
Het |
Arhgap30 |
T |
C |
1: 171,397,526 (GRCm38) |
V50A |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,231,763 (GRCm38) |
E145G |
probably damaging |
Het |
Ccdc177 |
A |
G |
12: 80,757,808 (GRCm38) |
L564P |
unknown |
Het |
Cdk12 |
C |
T |
11: 98,250,307 (GRCm38) |
P1458L |
unknown |
Het |
Chek1 |
A |
G |
9: 36,713,844 (GRCm38) |
F314L |
probably benign |
Het |
Cndp1 |
T |
C |
18: 84,628,813 (GRCm38) |
D250G |
probably damaging |
Het |
Cnot3 |
T |
C |
7: 3,653,523 (GRCm38) |
V239A |
probably benign |
Het |
Crhr2 |
A |
G |
6: 55,102,794 (GRCm38) |
F187S |
possibly damaging |
Het |
Dchs2 |
T |
A |
3: 83,285,324 (GRCm38) |
V1692D |
probably damaging |
Het |
Dctd |
T |
A |
8: 48,112,011 (GRCm38) |
I57N |
probably damaging |
Het |
Dennd5b |
A |
T |
6: 149,009,774 (GRCm38) |
L977* |
probably null |
Het |
Dhrs13 |
G |
C |
11: 78,032,666 (GRCm38) |
R70P |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,111,970 (GRCm38) |
S865P |
probably damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,881,551 (GRCm38) |
I275F |
possibly damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,432,237 (GRCm38) |
I757N |
probably damaging |
Het |
Exog |
A |
G |
9: 119,447,042 (GRCm38) |
Q110R |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,403,704 (GRCm38) |
C426R |
probably benign |
Het |
Fndc11 |
A |
C |
2: 181,222,071 (GRCm38) |
H223P |
probably damaging |
Het |
Frmd3 |
T |
A |
4: 74,162,049 (GRCm38) |
S334R |
probably damaging |
Het |
Galnt14 |
A |
T |
17: 73,526,262 (GRCm38) |
I239N |
probably damaging |
Het |
Gm5930 |
C |
T |
14: 44,338,558 (GRCm38) |
M1I |
probably null |
Het |
Igkv4-63 |
A |
G |
6: 69,378,067 (GRCm38) |
S77P |
probably benign |
Het |
Igkv5-48 |
G |
A |
6: 69,726,795 (GRCm38) |
S42F |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,034,514 (GRCm38) |
Y1992F |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,810,684 (GRCm38) |
Y3788C |
unknown |
Het |
Lgals4 |
C |
T |
7: 28,841,496 (GRCm38) |
R282C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,809,240 (GRCm38) |
N525S |
probably benign |
Het |
Med1 |
T |
C |
11: 98,155,773 (GRCm38) |
H1399R |
unknown |
Het |
Mga |
T |
A |
2: 119,963,926 (GRCm38) |
V2697E |
possibly damaging |
Het |
Msto1 |
T |
C |
3: 88,911,877 (GRCm38) |
T188A |
probably benign |
Het |
Nrap |
T |
C |
19: 56,321,952 (GRCm38) |
H1456R |
probably damaging |
Het |
Olfr959 |
G |
T |
9: 39,572,504 (GRCm38) |
P252T |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 63,075,111 (GRCm38) |
K248* |
probably null |
Het |
Pcdhb12 |
G |
A |
18: 37,437,421 (GRCm38) |
R540H |
probably benign |
Het |
Pcx |
G |
T |
19: 4,602,011 (GRCm38) |
A96S |
probably damaging |
Het |
Psme3 |
T |
C |
11: 101,320,596 (GRCm38) |
I193T |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,197,406 (GRCm38) |
M587K |
probably benign |
Het |
Rph3a |
A |
T |
5: 120,962,438 (GRCm38) |
H132Q |
probably damaging |
Het |
Scrib |
C |
A |
15: 76,064,505 (GRCm38) |
D501Y |
probably damaging |
Het |
Sdad1 |
C |
A |
5: 92,304,998 (GRCm38) |
R127L |
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,341,730 (GRCm38) |
T356A |
probably damaging |
Het |
Sh3bgrl3 |
T |
C |
4: 134,127,805 (GRCm38) |
D73G |
probably benign |
Het |
Sipa1l1 |
G |
T |
12: 82,169,743 (GRCm38) |
|
probably benign |
Het |
Slc17a8 |
G |
A |
10: 89,592,896 (GRCm38) |
A261V |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,662,397 (GRCm38) |
I195F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,140,928 (GRCm38) |
K809E |
possibly damaging |
Het |
Tmem30c |
G |
A |
16: 57,266,492 (GRCm38) |
T316M |
probably damaging |
Het |
Tnfrsf19 |
T |
C |
14: 60,971,002 (GRCm38) |
T357A |
probably benign |
Het |
Top2a |
T |
A |
11: 99,010,042 (GRCm38) |
T574S |
probably damaging |
Het |
Trappc3l |
G |
A |
10: 34,098,921 (GRCm38) |
C133Y |
probably damaging |
Het |
Unk |
C |
T |
11: 116,047,814 (GRCm38) |
T81I |
probably damaging |
Het |
Vamp1 |
G |
A |
6: 125,240,425 (GRCm38) |
R144K |
unknown |
Het |
Wnt9b |
T |
C |
11: 103,733,661 (GRCm38) |
N101S |
probably damaging |
Het |
Wwtr1 |
T |
A |
3: 57,462,524 (GRCm38) |
D390V |
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 |
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 |
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'- CAGTAGTTTTCATTGGGTCATCTCCAC -3'
(R):5'- CTCAATTGCATCAAGCTATGTCTAC -3'
Sequencing Primer
(F):5'- CCACTACCTTAGAATCTTGATTGTG -3'
(R):5'- GCTATGTCTACAAAACACTAGGCAG -3'
|
Posted On |
2021-04-30 |