Incidental Mutation 'R9802:Plcl1'
| ID |
735241 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl1
|
| Ensembl Gene |
ENSMUSG00000038349 |
| Gene Name |
phospholipase C-like 1 |
| Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
R9802 (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 C
at 55735241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 194
(L194P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042986
AA Change: L194P
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: L194P
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,786,054 (GRCm39) |
D673G |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,283,508 (GRCm39) |
Y292C |
probably benign |
Het |
| Alg8 |
T |
A |
7: 97,027,486 (GRCm39) |
V118E |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,606,220 (GRCm39) |
D2154E |
possibly damaging |
Het |
| Anln |
T |
C |
9: 22,245,453 (GRCm39) |
I1029M |
probably damaging |
Het |
| Bltp3b |
G |
A |
10: 89,615,755 (GRCm39) |
V133I |
probably benign |
Het |
| Bms1 |
T |
A |
6: 118,368,147 (GRCm39) |
K1039I |
probably damaging |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Col4a2 |
A |
G |
8: 11,493,104 (GRCm39) |
N1299S |
probably benign |
Het |
| Dclk3 |
A |
G |
9: 111,298,244 (GRCm39) |
D596G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,561,388 (GRCm39) |
C2090S |
probably benign |
Het |
| Dock7 |
T |
C |
4: 98,846,384 (GRCm39) |
D1749G |
unknown |
Het |
| Egr1 |
T |
C |
18: 34,995,674 (GRCm39) |
F152S |
probably damaging |
Het |
| Eln |
C |
A |
5: 134,744,559 (GRCm39) |
A479S |
unknown |
Het |
| Gipc3 |
G |
A |
10: 81,179,097 (GRCm39) |
|
probably benign |
Het |
| Hcfc2 |
G |
T |
10: 82,574,269 (GRCm39) |
G148* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,684,391 (GRCm39) |
D393G |
probably benign |
Het |
| Hnf4g |
A |
T |
3: 3,699,404 (GRCm39) |
N45Y |
probably benign |
Het |
| Ighd |
G |
A |
12: 113,371,455 (GRCm39) |
P265S |
|
Het |
| Igkv3-10 |
T |
C |
6: 70,550,001 (GRCm39) |
V49A |
probably damaging |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,060,745 (GRCm39) |
I852F |
possibly damaging |
Het |
| Lhx5 |
T |
A |
5: 120,572,663 (GRCm39) |
V94E |
possibly damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,518 (GRCm39) |
P615H |
possibly damaging |
Het |
| Med12l |
T |
C |
3: 59,169,346 (GRCm39) |
W1579R |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Mib1 |
T |
A |
18: 10,798,494 (GRCm39) |
L785H |
probably damaging |
Het |
| Mrgpra6 |
C |
T |
7: 46,835,533 (GRCm39) |
R296K |
probably benign |
Het |
| Mutyh |
A |
G |
4: 116,676,485 (GRCm39) |
S486G |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,349,370 (GRCm39) |
Y96* |
probably null |
Het |
| Naip1 |
C |
G |
13: 100,562,713 (GRCm39) |
E817D |
probably benign |
Het |
| Nxf1 |
G |
A |
19: 8,739,772 (GRCm39) |
G42D |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,885,189 (GRCm39) |
Y8023C |
unknown |
Het |
| Opn5 |
G |
A |
17: 42,903,582 (GRCm39) |
T251I |
possibly damaging |
Het |
| Or4c11b |
T |
A |
2: 88,625,491 (GRCm39) |
I255K |
probably damaging |
Het |
| Prkab1 |
T |
C |
5: 116,162,274 (GRCm39) |
E12G |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,078 (GRCm39) |
F168S |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Skint3 |
T |
A |
4: 112,111,094 (GRCm39) |
V73E |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,240,342 (GRCm39) |
C445S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,037,197 (GRCm39) |
E3792G |
probably damaging |
Het |
| T |
G |
A |
17: 8,654,988 (GRCm39) |
V173M |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,799,225 (GRCm39) |
M802T |
possibly damaging |
Het |
| Ttll4 |
A |
G |
1: 74,720,482 (GRCm39) |
N499S |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,640,176 (GRCm39) |
|
probably null |
Het |
| Vmn1r195 |
T |
C |
13: 22,463,273 (GRCm39) |
Y248H |
probably damaging |
Het |
| Ybx3 |
G |
A |
6: 131,345,426 (GRCm39) |
R316C |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,676,505 (GRCm39) |
P749L |
probably damaging |
Het |
| Zfp607a |
A |
T |
7: 27,578,704 (GRCm39) |
K591N |
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 |
|
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 |
|
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'- ATTAGCTTCATGCAGGCTGG -3'
(R):5'- TTCAAACACCGTTTTCAGCCAC -3'
Sequencing Primer
(F):5'- GAAAGTGCGCCCGAACTCTC -3'
(R):5'- GTTTTCAGCCACATGAACCGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation