Incidental Mutation 'R8323:Plcl1'
ID |
643895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl1
|
Ensembl Gene |
ENSMUSG00000038349 |
Gene Name |
phospholipase C-like 1 |
Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
MMRRC Submission |
067724-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
R8323 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55736895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 745
(D745E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
AlphaFold |
Q3USB7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042986
AA Change: D745E
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037854 Gene: ENSMUSG00000038349 AA Change: D745E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,649,351 (GRCm39) |
F6S |
probably benign |
Het |
Braf |
T |
C |
6: 39,620,058 (GRCm39) |
T507A |
possibly damaging |
Het |
Catsperb |
A |
C |
12: 101,375,658 (GRCm39) |
H24P |
probably benign |
Het |
Ccdc57 |
G |
T |
11: 120,788,750 (GRCm39) |
Q366K |
possibly damaging |
Het |
Cep295 |
G |
T |
9: 15,249,529 (GRCm39) |
T462K |
possibly damaging |
Het |
Cep295 |
T |
A |
9: 15,264,357 (GRCm39) |
R96S |
probably damaging |
Het |
Cfap206 |
C |
T |
4: 34,719,647 (GRCm39) |
E256K |
probably benign |
Het |
Cfap251 |
A |
G |
5: 123,435,588 (GRCm39) |
N1016S |
probably benign |
Het |
Cldn13 |
A |
G |
5: 134,943,828 (GRCm39) |
V119A |
probably benign |
Het |
Csmd1 |
G |
T |
8: 17,266,751 (GRCm39) |
C58* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
Dcbld2 |
T |
A |
16: 58,283,473 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
G |
1: 181,532,109 (GRCm39) |
I2299V |
probably benign |
Het |
Dsp |
C |
T |
13: 38,356,806 (GRCm39) |
H229Y |
possibly damaging |
Het |
Fam193b |
A |
T |
13: 55,702,223 (GRCm39) |
C51* |
probably null |
Het |
Fbxw10 |
G |
A |
11: 62,767,506 (GRCm39) |
V781I |
probably benign |
Het |
Fdps |
G |
T |
3: 89,002,696 (GRCm39) |
P151T |
possibly damaging |
Het |
Galk2 |
C |
T |
2: 125,708,298 (GRCm39) |
H16Y |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,813,719 (GRCm39) |
|
probably null |
Het |
Gm3727 |
C |
T |
14: 7,261,693 (GRCm38) |
V204I |
probably benign |
Het |
Gtf2h3 |
A |
G |
5: 124,720,534 (GRCm39) |
I13V |
probably benign |
Het |
H2-T24 |
T |
A |
17: 36,328,431 (GRCm39) |
|
probably null |
Het |
Heatr5a |
C |
T |
12: 52,002,289 (GRCm39) |
V216M |
probably benign |
Het |
Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
Igfbp2 |
C |
T |
1: 72,888,780 (GRCm39) |
P224S |
probably damaging |
Het |
Igkv17-127 |
A |
G |
6: 67,838,498 (GRCm39) |
I70V |
possibly damaging |
Het |
Kif11 |
T |
A |
19: 37,372,692 (GRCm39) |
F27I |
possibly damaging |
Het |
Lcor |
T |
C |
19: 41,572,036 (GRCm39) |
S264P |
probably benign |
Het |
Lrrc28 |
G |
T |
7: 67,245,455 (GRCm39) |
T137K |
unknown |
Het |
Lyg1 |
T |
A |
1: 37,989,018 (GRCm39) |
R67S |
probably damaging |
Het |
Ms4a10 |
G |
A |
19: 10,940,363 (GRCm39) |
Q255* |
probably null |
Het |
Myo1h |
A |
G |
5: 114,480,200 (GRCm39) |
R512G |
|
Het |
Nmnat3 |
T |
C |
9: 98,292,276 (GRCm39) |
Y174H |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,378,255 (GRCm39) |
I19V |
probably benign |
Het |
Nsf |
C |
A |
11: 103,819,665 (GRCm39) |
V35L |
probably benign |
Het |
Or1e30 |
A |
T |
11: 73,677,766 (GRCm39) |
M1L |
probably damaging |
Het |
Or2w6 |
T |
A |
13: 21,843,302 (GRCm39) |
M64L |
possibly damaging |
Het |
Osbpl9 |
A |
G |
4: 108,965,119 (GRCm39) |
S116P |
probably benign |
Het |
Pcdhb15 |
A |
C |
18: 37,608,715 (GRCm39) |
E649A |
probably benign |
Het |
Pcdhb8 |
T |
A |
18: 37,488,476 (GRCm39) |
D51E |
probably benign |
Het |
Prss3 |
A |
G |
6: 41,351,258 (GRCm39) |
L165P |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,793,532 (GRCm39) |
I1211N |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,503,023 (GRCm39) |
V416A |
probably benign |
Het |
Rnf111 |
T |
A |
9: 70,383,204 (GRCm39) |
Q243L |
probably benign |
Het |
Sacm1l |
T |
C |
9: 123,377,987 (GRCm39) |
V89A |
probably benign |
Het |
Sardh |
C |
T |
2: 27,125,576 (GRCm39) |
D313N |
probably damaging |
Het |
Scin |
T |
C |
12: 40,129,681 (GRCm39) |
I371V |
probably benign |
Het |
Scn10a |
C |
A |
9: 119,438,462 (GRCm39) |
L1801F |
possibly damaging |
Het |
Sele |
G |
A |
1: 163,879,207 (GRCm39) |
V281M |
possibly damaging |
Het |
Slc17a1 |
C |
A |
13: 24,071,982 (GRCm39) |
T400K |
probably damaging |
Het |
Slc22a28 |
T |
A |
19: 8,108,788 (GRCm39) |
D118V |
probably damaging |
Het |
Slc2a10 |
T |
A |
2: 165,356,671 (GRCm39) |
F110L |
probably benign |
Het |
Slc51a |
A |
G |
16: 32,295,197 (GRCm39) |
S294P |
probably damaging |
Het |
Snapc4 |
T |
C |
2: 26,254,711 (GRCm39) |
E1271G |
probably benign |
Het |
Spata31 |
C |
A |
13: 65,070,065 (GRCm39) |
Q738K |
possibly damaging |
Het |
Spdya |
A |
G |
17: 71,895,587 (GRCm39) |
D284G |
probably benign |
Het |
Tdrd5 |
T |
C |
1: 156,094,832 (GRCm39) |
D757G |
possibly damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,199 (GRCm39) |
F245S |
probably damaging |
Het |
Tmem170 |
A |
T |
8: 112,603,153 (GRCm39) |
S39T |
probably benign |
Het |
Trim24 |
G |
T |
6: 37,892,233 (GRCm39) |
|
probably null |
Het |
Uap1 |
A |
G |
1: 169,978,635 (GRCm39) |
V302A |
probably damaging |
Het |
Vmn2r96 |
A |
T |
17: 18,803,023 (GRCm39) |
Y311F |
probably damaging |
Het |
Wdhd1 |
A |
T |
14: 47,512,252 (GRCm39) |
D46E |
possibly damaging |
Het |
Zdbf2 |
G |
A |
1: 63,342,073 (GRCm39) |
V151I |
possibly damaging |
Het |
Zfp747l1 |
A |
T |
7: 126,983,621 (GRCm39) |
C494S |
possibly damaging |
Het |
Zfp943 |
A |
G |
17: 22,211,763 (GRCm39) |
Q283R |
possibly damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,235 (GRCm39) |
D337E |
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 |
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 |
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'- AATGGAGGATGTGGCTACGTC -3'
(R):5'- GGCTGCAGACATTCAAATGGG -3'
Sequencing Primer
(F):5'- CCTCAGGCCATCTATCATGCGAG -3'
(R):5'- TGGGATCGTATACTGCCCAATGAAC -3'
|
Posted On |
2020-09-02 |