Incidental Mutation 'R7536:Plcl1'
| ID |
583563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl1
|
| Ensembl Gene |
ENSMUSG00000038349 |
| Gene Name |
phospholipase C-like 1 |
| Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
| MMRRC Submission |
045608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.897)
|
| Stock # |
R7536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 55752640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 995
(Q995*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000042986
AA Change: Q995*
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: Q995*
| 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: 99.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| AI597479 |
C |
G |
1: 43,150,505 (GRCm39) |
A205G |
possibly damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,113,690 (GRCm39) |
V74E |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,011,703 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
A |
T |
9: 22,582,096 (GRCm39) |
Q596L |
probably damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,573,245 (GRCm39) |
V248A |
probably damaging |
Het |
| Cer1 |
C |
A |
4: 82,803,205 (GRCm39) |
R39L |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,708 (GRCm39) |
T624A |
possibly damaging |
Het |
| Coro1c |
C |
A |
5: 113,983,350 (GRCm39) |
G393W |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,800,331 (GRCm39) |
L97P |
probably damaging |
Het |
| Cyp2a5 |
T |
G |
7: 26,539,903 (GRCm39) |
L317R |
probably damaging |
Het |
| Cyp2j6 |
C |
A |
4: 96,423,774 (GRCm39) |
G198V |
probably damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,962,804 (GRCm39) |
E238G |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,358,768 (GRCm39) |
T3419K |
probably damaging |
Het |
| Dpep3 |
A |
T |
8: 106,704,032 (GRCm39) |
I262K |
probably damaging |
Het |
| Dscam |
T |
G |
16: 96,442,226 (GRCm39) |
|
probably null |
Het |
| Farsb |
A |
G |
1: 78,420,391 (GRCm39) |
V500A |
possibly damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,986,209 (GRCm39) |
C136* |
probably null |
Het |
| Fbxo43 |
G |
T |
15: 36,161,997 (GRCm39) |
D403E |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,874,432 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,521,852 (GRCm39) |
Y497C |
probably damaging |
Het |
| Gbp3 |
A |
T |
3: 142,272,156 (GRCm39) |
R219S |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,502,722 (GRCm39) |
H737Q |
possibly damaging |
Het |
| Gpr89 |
C |
A |
3: 96,798,209 (GRCm39) |
R149L |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,732,186 (GRCm39) |
Y1592N |
probably damaging |
Het |
| Gria4 |
A |
C |
9: 4,464,298 (GRCm39) |
Y555D |
probably damaging |
Het |
| Hspa1b |
T |
A |
17: 35,177,851 (GRCm39) |
T45S |
possibly damaging |
Het |
| Kif5b |
A |
T |
18: 6,216,235 (GRCm39) |
N571K |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,849,066 (GRCm39) |
M694K |
probably damaging |
Het |
| Med24 |
G |
A |
11: 98,603,447 (GRCm39) |
H439Y |
possibly damaging |
Het |
| Mgl2 |
G |
T |
11: 70,027,833 (GRCm39) |
R347L |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,581,240 (GRCm39) |
L850Q |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,530 (GRCm39) |
V44A |
possibly damaging |
Het |
| Mylk3 |
T |
C |
8: 86,080,233 (GRCm39) |
I485V |
probably benign |
Het |
| Or10ag54 |
C |
T |
2: 87,099,943 (GRCm39) |
Q273* |
probably null |
Het |
| Or7e174 |
C |
A |
9: 20,012,826 (GRCm39) |
T257K |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,664,560 (GRCm39) |
L434P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,755,768 (GRCm39) |
Y223C |
probably damaging |
Het |
| Pls1 |
C |
T |
9: 95,644,110 (GRCm39) |
C462Y |
probably damaging |
Het |
| Ppp6r3 |
T |
C |
19: 3,557,341 (GRCm39) |
E249G |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,184 (GRCm39) |
N483I |
unknown |
Het |
| R3hdm1 |
A |
G |
1: 128,109,948 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
T |
C |
17: 75,821,128 (GRCm39) |
F445S |
probably damaging |
Het |
| Rnf39 |
G |
T |
17: 37,254,009 (GRCm39) |
L10F |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,740,725 (GRCm39) |
D410G |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,700,901 (GRCm39) |
T35A |
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,668,744 (GRCm39) |
|
probably null |
Het |
| Slc13a1 |
A |
T |
6: 24,100,330 (GRCm39) |
D384E |
probably damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,689,698 (GRCm39) |
T55A |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,141 (GRCm39) |
Q261* |
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,889,556 (GRCm39) |
V755M |
probably damaging |
Het |
| St7 |
C |
G |
6: 17,886,019 (GRCm39) |
P327R |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,078,694 (GRCm39) |
I268T |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,007,294 (GRCm39) |
S171P |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,427,118 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,742,203 (GRCm39) |
Y16C |
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,158,215 (GRCm39) |
Y503* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,547,681 (GRCm39) |
D32163G |
probably benign |
Het |
| Uba6 |
A |
T |
5: 86,272,191 (GRCm39) |
S833T |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,561 (GRCm39) |
L595P |
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 |
|
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 |
|
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'- ACAGAGATTTTCGCATCTTTCC -3'
(R):5'- ACATGCCCTCATCTCTGGAC -3'
Sequencing Primer
(F):5'- AGAGATTTTCGCATCTTTCCCCATC -3'
(R):5'- TGGACCTCTTCAAACATTACCC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation