Incidental Mutation 'R0086:Plcl1'
ID |
19874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl1
|
Ensembl Gene |
ENSMUSG00000038349 |
Gene Name |
phospholipase C-like 1 |
Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
MMRRC Submission |
038373-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
R0086 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55754742 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 1030
(W1030R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
AlphaFold |
Q3USB7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042986
AA Change: W1030R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037854 Gene: ENSMUSG00000038349 AA Change: W1030R
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
|
Meta Mutation Damage Score |
0.8992 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
Validation Efficiency |
96% (91/95) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,946,802 (GRCm39) |
V233D |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,000,199 (GRCm39) |
V252A |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,279,397 (GRCm39) |
T596I |
possibly damaging |
Het |
Agap2 |
C |
A |
10: 126,923,751 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
T |
G |
3: 103,722,176 (GRCm39) |
V50G |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,250,424 (GRCm39) |
I381N |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,900,161 (GRCm39) |
V1113A |
possibly damaging |
Het |
C1galt1 |
T |
A |
6: 7,867,051 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,660,773 (GRCm39) |
K158E |
probably damaging |
Het |
Cenpe |
C |
T |
3: 134,970,185 (GRCm39) |
|
probably benign |
Het |
Cercam |
T |
C |
2: 29,761,076 (GRCm39) |
L42P |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,864,456 (GRCm39) |
E807G |
possibly damaging |
Het |
Cog6 |
A |
G |
3: 52,900,991 (GRCm39) |
V157A |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,344,271 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,499,357 (GRCm39) |
I15F |
unknown |
Het |
Dock7 |
A |
T |
4: 98,833,381 (GRCm39) |
V1970D |
probably damaging |
Het |
Exph5 |
A |
G |
9: 53,249,230 (GRCm39) |
D73G |
possibly damaging |
Het |
Gjc2 |
A |
T |
11: 59,067,672 (GRCm39) |
M270K |
probably benign |
Het |
Gns |
G |
A |
10: 121,227,378 (GRCm39) |
D463N |
probably damaging |
Het |
Hoxd8 |
G |
T |
2: 74,536,276 (GRCm39) |
G129W |
probably damaging |
Het |
Ina |
A |
G |
19: 47,012,030 (GRCm39) |
T483A |
possibly damaging |
Het |
Lmod3 |
T |
A |
6: 97,224,306 (GRCm39) |
Q505L |
probably damaging |
Het |
Map3k13 |
A |
G |
16: 21,732,975 (GRCm39) |
N526D |
probably damaging |
Het |
Map3k2 |
A |
T |
18: 32,351,521 (GRCm39) |
I435F |
probably damaging |
Het |
Mfsd6l |
A |
G |
11: 68,447,391 (GRCm39) |
T81A |
probably benign |
Het |
Micall1 |
T |
C |
15: 79,009,689 (GRCm39) |
|
probably benign |
Het |
Mkrn2 |
G |
T |
6: 115,590,296 (GRCm39) |
M217I |
possibly damaging |
Het |
Mtrex |
G |
T |
13: 113,063,862 (GRCm39) |
F10L |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,834,086 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,972 (GRCm39) |
C530Y |
probably damaging |
Het |
Numb |
T |
C |
12: 83,842,704 (GRCm39) |
T442A |
probably damaging |
Het |
Oip5 |
C |
T |
2: 119,448,410 (GRCm39) |
|
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,417,462 (GRCm39) |
I13F |
possibly damaging |
Het |
Or4c119 |
C |
T |
2: 88,986,820 (GRCm39) |
R233H |
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,261 (GRCm39) |
I216T |
probably benign |
Het |
Or8g22 |
T |
C |
9: 38,958,191 (GRCm39) |
T175A |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,038,832 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,419,404 (GRCm39) |
N2956K |
possibly damaging |
Het |
Polr2i |
G |
A |
7: 29,932,511 (GRCm39) |
V73M |
probably damaging |
Het |
Prr14l |
T |
A |
5: 32,988,903 (GRCm39) |
|
probably benign |
Het |
Pxdn |
G |
T |
12: 30,052,418 (GRCm39) |
R865L |
possibly damaging |
Het |
Scnn1a |
T |
C |
6: 125,319,550 (GRCm39) |
|
probably benign |
Het |
Shkbp1 |
G |
T |
7: 27,051,451 (GRCm39) |
H203N |
probably benign |
Het |
Slc22a14 |
C |
T |
9: 119,051,804 (GRCm39) |
|
probably benign |
Het |
Snap29 |
C |
A |
16: 17,246,100 (GRCm39) |
T240K |
probably damaging |
Het |
Sp2 |
C |
A |
11: 96,848,253 (GRCm39) |
G457C |
probably damaging |
Het |
Ssr2 |
C |
T |
3: 88,484,187 (GRCm39) |
|
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,910,753 (GRCm39) |
C297* |
probably null |
Het |
Tpm3 |
T |
A |
3: 89,997,399 (GRCm39) |
|
probably benign |
Het |
Trmt6 |
CTG |
C |
2: 132,650,937 (GRCm39) |
|
probably benign |
Het |
Trp63 |
T |
C |
16: 25,689,837 (GRCm39) |
Y431H |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,566,886 (GRCm39) |
C376S |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Ulk1 |
G |
A |
5: 110,935,573 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,249,557 (GRCm39) |
S1425P |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,191,433 (GRCm39) |
I1335V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,058 (GRCm39) |
Y352H |
probably damaging |
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 |
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 |
R6431:Plcl1
|
UTSW |
1 |
55,736,411 (GRCm39) |
missense |
probably benign |
0.03 |
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'- GAGTGAAACAGAGCCTGAACCAGTC -3'
(R):5'- TCACTTAGAGCTAACTCCGGTGGTC -3'
Sequencing Primer
(F):5'- GCCTGAACCAGTCATTTTAGATGC -3'
(R):5'- TAACTCCGGTGGTCAGGAC -3'
|
Posted On |
2013-04-11 |