Incidental Mutation 'R6431:Plcl1'
ID |
518508 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl1
|
Ensembl Gene |
ENSMUSG00000038349 |
Gene Name |
phospholipase C-like 1 |
Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
MMRRC Submission |
044569-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
R6431 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 55736411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Proline
at position 584
(R584P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
AlphaFold |
Q3USB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042986
AA Change: R584P
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000037854 Gene: ENSMUSG00000038349 AA Change: R584P
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
41 |
N/A |
INTRINSIC |
low complexity region
|
49 |
60 |
N/A |
INTRINSIC |
PH
|
115 |
226 |
6.98e-4 |
SMART |
low complexity region
|
301 |
310 |
N/A |
INTRINSIC |
Pfam:EF-hand_like
|
316 |
398 |
5.9e-27 |
PFAM |
PLCXc
|
399 |
543 |
2.13e-82 |
SMART |
low complexity region
|
550 |
564 |
N/A |
INTRINSIC |
PLCYc
|
586 |
702 |
2.15e-69 |
SMART |
C2
|
723 |
829 |
1.02e-21 |
SMART |
low complexity region
|
1080 |
1092 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187059
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
PHENOTYPE: Homozygous null mutants display impaired motor coordination and decreased sensitivity to the sedative diazepam. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
A |
G |
16: 35,099,607 (GRCm39) |
E719G |
probably damaging |
Het |
Ankdd1a |
A |
G |
9: 65,424,220 (GRCm39) |
M31T |
possibly damaging |
Het |
Atp13a5 |
T |
C |
16: 29,070,154 (GRCm39) |
K911E |
possibly damaging |
Het |
Bpifb3 |
G |
T |
2: 153,766,728 (GRCm39) |
L210F |
probably damaging |
Het |
Cacna1c |
T |
C |
6: 118,728,334 (GRCm39) |
Y211C |
probably damaging |
Het |
Carm1 |
C |
A |
9: 21,494,373 (GRCm39) |
P297T |
probably damaging |
Het |
Cdh19 |
A |
T |
1: 110,852,787 (GRCm39) |
Y383N |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,860,583 (GRCm39) |
H681R |
probably damaging |
Het |
Cmya5 |
A |
C |
13: 93,210,972 (GRCm39) |
S3274A |
possibly damaging |
Het |
Cndp2 |
T |
A |
18: 84,693,203 (GRCm39) |
K186* |
probably null |
Het |
Ctdp1 |
G |
T |
18: 80,494,470 (GRCm39) |
F310L |
probably damaging |
Het |
Cyp2c55 |
A |
T |
19: 39,019,853 (GRCm39) |
I264F |
probably damaging |
Het |
Dhx40 |
A |
T |
11: 86,664,649 (GRCm39) |
F628I |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,862,128 (GRCm39) |
M500K |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,349,970 (GRCm39) |
D2551A |
possibly damaging |
Het |
Esyt1 |
A |
G |
10: 128,352,543 (GRCm39) |
|
probably null |
Het |
Fam78a |
T |
C |
2: 31,972,843 (GRCm39) |
S26G |
probably damaging |
Het |
Fn1 |
G |
A |
1: 71,687,003 (GRCm39) |
|
probably null |
Het |
Gbx1 |
T |
C |
5: 24,709,916 (GRCm39) |
T310A |
probably benign |
Het |
Ggh |
T |
A |
4: 20,042,219 (GRCm39) |
C16S |
unknown |
Het |
Gm11595 |
T |
A |
11: 99,663,600 (GRCm39) |
T27S |
unknown |
Het |
Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
Gsk3b |
A |
G |
16: 38,014,311 (GRCm39) |
I256M |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
Hyou1 |
T |
C |
9: 44,293,322 (GRCm39) |
|
probably null |
Het |
Jup |
G |
T |
11: 100,265,167 (GRCm39) |
R637S |
probably benign |
Het |
Lama2 |
T |
A |
10: 26,929,027 (GRCm39) |
I2087F |
possibly damaging |
Het |
Lamc1 |
T |
G |
1: 153,097,417 (GRCm39) |
K1542N |
probably benign |
Het |
Lgals4 |
G |
T |
7: 28,540,117 (GRCm39) |
|
|
Het |
Lrrc8d |
A |
G |
5: 105,959,626 (GRCm39) |
D12G |
probably damaging |
Het |
Lrwd1 |
C |
T |
5: 136,161,888 (GRCm39) |
V207M |
possibly damaging |
Het |
Mbd1 |
T |
A |
18: 74,406,762 (GRCm39) |
|
probably null |
Het |
Msi1 |
T |
A |
5: 115,588,984 (GRCm39) |
I333N |
probably damaging |
Het |
Neo1 |
C |
T |
9: 58,814,354 (GRCm39) |
V871I |
probably benign |
Het |
Nr2c1 |
T |
C |
10: 94,024,078 (GRCm39) |
C428R |
probably damaging |
Het |
Ntm |
A |
G |
9: 29,322,978 (GRCm39) |
L14P |
probably damaging |
Het |
Nxpe4 |
A |
T |
9: 48,304,145 (GRCm39) |
K77N |
probably damaging |
Het |
Or1p1c |
A |
C |
11: 74,160,235 (GRCm39) |
T7P |
possibly damaging |
Het |
Or4c119 |
T |
A |
2: 88,987,505 (GRCm39) |
S5C |
probably damaging |
Het |
Or4f17-ps1 |
T |
A |
2: 111,358,001 (GRCm39) |
M132K |
probably damaging |
Het |
Or8g30 |
T |
C |
9: 39,230,074 (GRCm39) |
T279A |
possibly damaging |
Het |
Or8k18 |
G |
A |
2: 86,085,702 (GRCm39) |
L112F |
probably benign |
Het |
Pappa |
T |
A |
4: 65,074,701 (GRCm39) |
D418E |
probably damaging |
Het |
Pde4d |
G |
A |
13: 109,738,320 (GRCm39) |
|
probably null |
Het |
Pip |
A |
G |
6: 41,828,391 (GRCm39) |
N75S |
possibly damaging |
Het |
Pnp |
A |
T |
14: 51,188,471 (GRCm39) |
D237V |
probably damaging |
Het |
Ppp1r12a |
T |
C |
10: 108,098,281 (GRCm39) |
W857R |
probably damaging |
Het |
Pramel13 |
T |
C |
4: 144,119,653 (GRCm39) |
T305A |
possibly damaging |
Het |
Ptchd3 |
A |
T |
11: 121,727,229 (GRCm39) |
M368L |
probably benign |
Het |
Pum1 |
T |
A |
4: 130,501,816 (GRCm39) |
S868R |
probably damaging |
Het |
R3hdml |
A |
T |
2: 163,344,324 (GRCm39) |
S238C |
probably damaging |
Het |
Robo2 |
G |
A |
16: 73,843,697 (GRCm39) |
R173* |
probably null |
Het |
Sall3 |
A |
G |
18: 81,016,402 (GRCm39) |
S509P |
possibly damaging |
Het |
Sap130 |
T |
G |
18: 31,799,418 (GRCm39) |
H298Q |
possibly damaging |
Het |
Selenov |
C |
A |
7: 27,987,458 (GRCm39) |
G307C |
probably damaging |
Het |
Setd2 |
T |
A |
9: 110,379,453 (GRCm39) |
H1089Q |
possibly damaging |
Het |
Setdb2 |
T |
C |
14: 59,656,505 (GRCm39) |
N287D |
probably damaging |
Het |
Sis |
C |
T |
3: 72,865,507 (GRCm39) |
V182I |
probably benign |
Het |
Slc32a1 |
A |
C |
2: 158,453,457 (GRCm39) |
D99A |
probably benign |
Het |
Slk |
A |
G |
19: 47,609,327 (GRCm39) |
D760G |
probably damaging |
Het |
Smg5 |
T |
A |
3: 88,258,527 (GRCm39) |
D499E |
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,723,111 (GRCm39) |
N690Y |
probably benign |
Het |
Stat3 |
T |
C |
11: 100,780,400 (GRCm39) |
T720A |
possibly damaging |
Het |
Trdn |
T |
G |
10: 33,015,110 (GRCm39) |
N21K |
probably damaging |
Het |
Trpm4 |
A |
T |
7: 44,975,992 (GRCm39) |
V118E |
possibly damaging |
Het |
Vgll3 |
A |
G |
16: 65,612,640 (GRCm39) |
Q41R |
probably damaging |
Het |
Vmn1r189 |
A |
G |
13: 22,286,525 (GRCm39) |
V104A |
probably damaging |
Het |
Vmn1r46 |
A |
T |
6: 89,953,389 (GRCm39) |
R79S |
probably benign |
Het |
Zscan4c |
T |
C |
7: 10,740,856 (GRCm39) |
M125T |
probably benign |
Het |
|
Other mutations in Plcl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Plcl1
|
APN |
1 |
55,445,695 (GRCm39) |
missense |
probably benign |
|
IGL00491:Plcl1
|
APN |
1 |
55,752,657 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00753:Plcl1
|
APN |
1 |
55,735,897 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01415:Plcl1
|
APN |
1 |
55,735,555 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03024:Plcl1
|
APN |
1 |
55,734,946 (GRCm39) |
missense |
probably damaging |
1.00 |
K3955:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
PIT4791001:Plcl1
|
UTSW |
1 |
55,741,090 (GRCm39) |
missense |
probably benign |
0.03 |
R0066:Plcl1
|
UTSW |
1 |
55,752,634 (GRCm39) |
missense |
probably damaging |
0.99 |
R0066:Plcl1
|
UTSW |
1 |
55,752,634 (GRCm39) |
missense |
probably damaging |
0.99 |
R0083:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0086:Plcl1
|
UTSW |
1 |
55,754,742 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Plcl1
|
UTSW |
1 |
55,735,924 (GRCm39) |
missense |
probably damaging |
0.98 |
R0108:Plcl1
|
UTSW |
1 |
55,737,098 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1716:Plcl1
|
UTSW |
1 |
55,734,997 (GRCm39) |
missense |
probably damaging |
0.99 |
R2061:Plcl1
|
UTSW |
1 |
55,790,504 (GRCm39) |
missense |
probably benign |
0.01 |
R2128:Plcl1
|
UTSW |
1 |
55,736,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2869:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2870:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2870:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2872:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2872:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R2873:Plcl1
|
UTSW |
1 |
55,736,309 (GRCm39) |
missense |
probably benign |
0.09 |
R3819:Plcl1
|
UTSW |
1 |
55,735,758 (GRCm39) |
missense |
probably benign |
|
R3974:Plcl1
|
UTSW |
1 |
55,737,374 (GRCm39) |
missense |
probably benign |
0.30 |
R3975:Plcl1
|
UTSW |
1 |
55,737,374 (GRCm39) |
missense |
probably benign |
0.30 |
R4214:Plcl1
|
UTSW |
1 |
55,790,494 (GRCm39) |
nonsense |
probably null |
|
R4400:Plcl1
|
UTSW |
1 |
55,754,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R4452:Plcl1
|
UTSW |
1 |
55,736,045 (GRCm39) |
missense |
probably benign |
0.00 |
R4615:Plcl1
|
UTSW |
1 |
55,737,293 (GRCm39) |
missense |
probably benign |
0.00 |
R5060:Plcl1
|
UTSW |
1 |
55,735,671 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5422:Plcl1
|
UTSW |
1 |
55,736,543 (GRCm39) |
missense |
probably benign |
0.00 |
R5568:Plcl1
|
UTSW |
1 |
55,735,309 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5781:Plcl1
|
UTSW |
1 |
55,735,148 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5809:Plcl1
|
UTSW |
1 |
55,735,160 (GRCm39) |
missense |
probably damaging |
1.00 |
R6009:Plcl1
|
UTSW |
1 |
55,735,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R6339:Plcl1
|
UTSW |
1 |
55,735,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R6534:Plcl1
|
UTSW |
1 |
55,735,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6565:Plcl1
|
UTSW |
1 |
55,737,117 (GRCm39) |
nonsense |
probably null |
|
R6678:Plcl1
|
UTSW |
1 |
55,734,935 (GRCm39) |
missense |
probably benign |
0.13 |
R6773:Plcl1
|
UTSW |
1 |
55,790,461 (GRCm39) |
missense |
probably benign |
0.03 |
R6925:Plcl1
|
UTSW |
1 |
55,445,757 (GRCm39) |
nonsense |
probably null |
|
R7168:Plcl1
|
UTSW |
1 |
55,736,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Plcl1
|
UTSW |
1 |
55,737,377 (GRCm39) |
missense |
probably benign |
0.45 |
R7522:Plcl1
|
UTSW |
1 |
55,735,523 (GRCm39) |
missense |
probably benign |
0.31 |
R7527:Plcl1
|
UTSW |
1 |
55,736,273 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Plcl1
|
UTSW |
1 |
55,752,640 (GRCm39) |
nonsense |
probably null |
|
R7585:Plcl1
|
UTSW |
1 |
55,445,608 (GRCm39) |
missense |
probably benign |
0.00 |
R7591:Plcl1
|
UTSW |
1 |
55,736,608 (GRCm39) |
missense |
probably benign |
0.01 |
R7689:Plcl1
|
UTSW |
1 |
55,736,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Plcl1
|
UTSW |
1 |
55,736,443 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8029:Plcl1
|
UTSW |
1 |
55,735,237 (GRCm39) |
missense |
probably benign |
0.26 |
R8241:Plcl1
|
UTSW |
1 |
55,734,976 (GRCm39) |
missense |
probably benign |
0.01 |
R8323:Plcl1
|
UTSW |
1 |
55,736,895 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9000:Plcl1
|
UTSW |
1 |
55,736,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R9331:Plcl1
|
UTSW |
1 |
55,736,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9358:Plcl1
|
UTSW |
1 |
55,735,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R9432:Plcl1
|
UTSW |
1 |
55,445,587 (GRCm39) |
missense |
probably benign |
|
R9452:Plcl1
|
UTSW |
1 |
55,734,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Plcl1
|
UTSW |
1 |
55,735,450 (GRCm39) |
missense |
probably benign |
0.00 |
R9802:Plcl1
|
UTSW |
1 |
55,735,241 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Plcl1
|
UTSW |
1 |
55,790,443 (GRCm39) |
nonsense |
probably null |
|
Z1176:Plcl1
|
UTSW |
1 |
55,735,199 (GRCm39) |
missense |
probably benign |
0.20 |
Z1177:Plcl1
|
UTSW |
1 |
55,736,043 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGAAGCACCTTTGTCTTCAG -3'
(R):5'- TCTATCCGCATGGCACTAGG -3'
Sequencing Primer
(F):5'- AGAAGCACCTTTGTCTTCAGAATCC -3'
(R):5'- GGTAGACCCTTGATAAGAACTTCTTG -3'
|
Posted On |
2018-05-24 |