Incidental Mutation 'R7256:Plcl1'
| ID |
564241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl1
|
| Ensembl Gene |
ENSMUSG00000038349 |
| Gene Name |
phospholipase C-like 1 |
| Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
| MMRRC Submission |
045317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R7256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55737377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 906
(Q906R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042986
AA Change: Q906R
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: Q906R
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,659,923 (GRCm39) |
Y790H |
probably damaging |
Het |
| Bend3 |
A |
C |
10: 43,369,667 (GRCm39) |
S7R |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,431,997 (GRCm39) |
A1832V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,851 (GRCm39) |
E338G |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,490 (GRCm39) |
S1406P |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,382,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,172,351 (GRCm39) |
C569W |
probably damaging |
Het |
| Ces5a |
G |
A |
8: 94,226,154 (GRCm39) |
T527I |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,796,608 (GRCm39) |
I200F |
probably damaging |
Het |
| Cmas |
G |
A |
6: 142,716,312 (GRCm39) |
D251N |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,960,268 (GRCm39) |
A105E |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dctn6 |
A |
T |
8: 34,557,962 (GRCm39) |
I170N |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,321,920 (GRCm39) |
Y3800C |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,724,988 (GRCm39) |
V465I |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,123,058 (GRCm39) |
T646A |
probably benign |
Het |
| Etv4 |
T |
A |
11: 101,675,151 (GRCm39) |
|
probably null |
Het |
| Exoc3l2 |
T |
C |
7: 19,218,628 (GRCm39) |
V549A |
unknown |
Het |
| Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,390,251 (GRCm39) |
I179S |
|
Het |
| Galntl5 |
A |
G |
5: 25,400,298 (GRCm39) |
H109R |
probably benign |
Het |
| Garem1 |
C |
A |
18: 21,281,811 (GRCm39) |
G182W |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,032,285 (GRCm39) |
Y50N |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,615,709 (GRCm39) |
F271I |
probably benign |
Het |
| Hivep2 |
G |
T |
10: 14,004,845 (GRCm39) |
S481I |
probably benign |
Het |
| Homez |
T |
A |
14: 55,094,877 (GRCm39) |
Q277L |
probably damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,210,722 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,678,957 (GRCm39) |
S118P |
probably damaging |
Het |
| Ikzf2 |
A |
C |
1: 69,617,212 (GRCm39) |
|
probably null |
Het |
| Kif5b |
A |
G |
18: 6,225,340 (GRCm39) |
V230A |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,040 (GRCm39) |
V719E |
probably benign |
Het |
| Lsm7 |
G |
A |
10: 80,689,565 (GRCm39) |
R66W |
possibly damaging |
Het |
| Map3k13 |
T |
A |
16: 21,710,988 (GRCm39) |
D90E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,953,098 (GRCm39) |
K460E |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,681,515 (GRCm39) |
N1061H |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,277,089 (GRCm39) |
Q275R |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,800 (GRCm39) |
D227E |
probably benign |
Het |
| Nploc4 |
G |
T |
11: 120,319,376 (GRCm39) |
S61R |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,381 (GRCm39) |
Y24C |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,553,699 (GRCm39) |
I1143N |
probably damaging |
Het |
| Or14a256 |
G |
T |
7: 86,264,873 (GRCm39) |
H327N |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,192,838 (GRCm39) |
Y312N |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,004 (GRCm39) |
M57K |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,720,956 (GRCm39) |
S188P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,532,366 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,633 (GRCm39) |
H229R |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 44,991,167 (GRCm39) |
N1018S |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,452,849 (GRCm39) |
D93E |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,125 (GRCm39) |
V534A |
possibly damaging |
Het |
| Pygm |
A |
T |
19: 6,435,926 (GRCm39) |
I126F |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,472,415 (GRCm39) |
Y909C |
probably damaging |
Het |
| Rasgrf2 |
G |
A |
13: 92,032,637 (GRCm39) |
Q560* |
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,684,540 (GRCm39) |
I1190F |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,183,921 (GRCm39) |
K1693E |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,165,002 (GRCm39) |
T121A |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,762,806 (GRCm39) |
N112S |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,502,591 (GRCm39) |
Q3548* |
probably null |
Het |
| Sardh |
A |
T |
2: 27,108,824 (GRCm39) |
V637D |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,722,016 (GRCm39) |
V179A |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,667 (GRCm39) |
E48G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,124,870 (GRCm39) |
T319I |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,913 (GRCm39) |
Q390L |
possibly damaging |
Het |
| Tmem53 |
C |
T |
4: 117,109,237 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,370 (GRCm39) |
I54N |
probably damaging |
Het |
| Vmn1r223 |
A |
C |
13: 23,434,036 (GRCm39) |
Y210S |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,947,205 (GRCm39) |
H670Q |
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 |
|
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'- TCGTTCACATAGCAATAACCAATCG -3'
(R):5'- CTCCATTAGCTGGCCAAACTC -3'
Sequencing Primer
(F):5'- TAGCAATAACCAATCGCAGTGG -3'
(R):5'- TTAGCTGGCCAAACTCAACCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation