Incidental Mutation 'R9358:Plcl1'
| ID |
708488 |
| 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: 0.897)
|
| Stock # |
R9358 (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 55735810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 384
(S384P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042986
AA Change: S384P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: S384P
| 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: 99.6%
- 20x: 98.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
A |
T |
3: 121,474,976 (GRCm39) |
K149* |
probably null |
Het |
| Ap3m2 |
G |
A |
8: 23,280,959 (GRCm39) |
S365F |
possibly damaging |
Het |
| Apob |
T |
A |
12: 8,060,833 (GRCm39) |
I3105K |
probably benign |
Het |
| Arfgef3 |
A |
G |
10: 18,492,628 (GRCm39) |
L1261P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,450,653 (GRCm39) |
|
probably null |
Het |
| Axin2 |
A |
G |
11: 108,814,873 (GRCm39) |
T254A |
probably benign |
Het |
| Cachd1 |
G |
A |
4: 100,833,622 (GRCm39) |
V800M |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,222,881 (GRCm39) |
L892P |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,962,987 (GRCm39) |
R466* |
probably null |
Het |
| Cilp |
A |
G |
9: 65,183,269 (GRCm39) |
Q391R |
probably benign |
Het |
| Cracd |
A |
T |
5: 77,002,836 (GRCm39) |
I137F |
probably damaging |
Het |
| Ctcfl |
T |
A |
2: 172,960,581 (GRCm39) |
M1L |
possibly damaging |
Het |
| Dnah14 |
G |
A |
1: 181,536,598 (GRCm39) |
A2414T |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,406,592 (GRCm39) |
L550P |
probably damaging |
Het |
| Erich6b |
T |
A |
14: 75,902,668 (GRCm39) |
S162T |
probably benign |
Het |
| Fbxw7 |
C |
A |
3: 84,883,561 (GRCm39) |
H578Q |
|
Het |
| Fer |
T |
C |
17: 64,280,076 (GRCm39) |
L418P |
possibly damaging |
Het |
| Fndc3b |
A |
C |
3: 27,505,556 (GRCm39) |
L904R |
possibly damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,935,422 (GRCm39) |
I249N |
possibly damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,127 (GRCm39) |
D304E |
probably benign |
Het |
| Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
| Gpatch4 |
G |
T |
3: 87,962,452 (GRCm39) |
E222* |
probably null |
Het |
| Heatr1 |
A |
T |
13: 12,433,087 (GRCm39) |
T1146S |
probably benign |
Het |
| Hrc |
A |
C |
7: 44,985,984 (GRCm39) |
E378D |
probably benign |
Het |
| Hspg2 |
G |
T |
4: 137,244,909 (GRCm39) |
R878L |
probably damaging |
Het |
| Igkv1-122 |
A |
G |
6: 67,993,756 (GRCm39) |
M11V |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,643,885 (GRCm39) |
K75* |
probably null |
Het |
| Jag1 |
A |
G |
2: 136,924,948 (GRCm39) |
V1218A |
probably benign |
Het |
| Kif28 |
C |
T |
1: 179,563,695 (GRCm39) |
D94N |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,064,378 (GRCm39) |
T1201M |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 27,492,761 (GRCm39) |
L11P |
unknown |
Het |
| Lrfn2 |
T |
C |
17: 49,403,530 (GRCm39) |
V551A |
probably damaging |
Het |
| Lrrc8d |
A |
G |
5: 105,960,358 (GRCm39) |
N256S |
probably benign |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mon2 |
A |
G |
10: 122,868,452 (GRCm39) |
S534P |
probably benign |
Het |
| Mrps5 |
T |
A |
2: 127,437,734 (GRCm39) |
I187N |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,840 (GRCm39) |
M360V |
probably benign |
Het |
| Muc16 |
T |
G |
9: 18,553,520 (GRCm39) |
I4258L |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,781,520 (GRCm39) |
D1005G |
possibly damaging |
Het |
| Myo18b |
T |
A |
5: 112,943,269 (GRCm39) |
R1645S |
possibly damaging |
Het |
| Naip2 |
A |
T |
13: 100,298,080 (GRCm39) |
V652D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,163,106 (GRCm39) |
M134K |
probably benign |
Het |
| Nup107 |
A |
G |
10: 117,586,868 (GRCm39) |
F893S |
probably damaging |
Het |
| Or10j3 |
A |
T |
1: 173,031,741 (GRCm39) |
R273W |
probably damaging |
Het |
| Or11h23 |
A |
G |
14: 50,947,802 (GRCm39) |
E5G |
probably benign |
Het |
| Or1e35 |
A |
T |
11: 73,797,451 (GRCm39) |
I289N |
probably damaging |
Het |
| Or4f14b |
A |
G |
2: 111,775,429 (GRCm39) |
V124A |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,799 (GRCm39) |
C182Y |
probably damaging |
Het |
| Pcgf1 |
G |
T |
6: 83,056,433 (GRCm39) |
R124L |
probably benign |
Het |
| Pdcd10 |
A |
T |
3: 75,448,533 (GRCm39) |
N10K |
probably damaging |
Het |
| Pdx1 |
C |
T |
5: 147,207,064 (GRCm39) |
Q6* |
probably null |
Het |
| Serpina1b |
T |
A |
12: 103,694,653 (GRCm39) |
T364S |
possibly damaging |
Het |
| Slc5a11 |
C |
T |
7: 122,857,775 (GRCm39) |
T288I |
probably damaging |
Het |
| Slc6a1 |
A |
T |
6: 114,291,271 (GRCm39) |
S515C |
probably damaging |
Het |
| Snca |
A |
T |
6: 60,710,121 (GRCm39) |
D119E |
probably benign |
Het |
| Sorcs2 |
T |
C |
5: 36,200,814 (GRCm39) |
D578G |
probably damaging |
Het |
| Sulf1 |
T |
A |
1: 12,890,729 (GRCm39) |
L389Q |
probably damaging |
Het |
| Thoc2l |
T |
C |
5: 104,667,826 (GRCm39) |
F783L |
possibly damaging |
Het |
| Tln1 |
A |
C |
4: 43,532,084 (GRCm39) |
I2501S |
possibly damaging |
Het |
| Tmem191 |
A |
G |
16: 17,094,257 (GRCm39) |
E27G |
probably damaging |
Het |
| Tmem200a |
G |
T |
10: 25,869,677 (GRCm39) |
N197K |
probably benign |
Het |
| Tmem207 |
A |
T |
16: 26,345,434 (GRCm39) |
S11T |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,564,953 (GRCm39) |
T28425A |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,439,379 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,477,197 (GRCm39) |
I398K |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,452,236 (GRCm39) |
H472L |
probably benign |
Het |
| Vps45 |
C |
T |
3: 95,940,976 (GRCm39) |
|
probably null |
Het |
| Wdr26 |
T |
C |
1: 181,019,423 (GRCm39) |
H334R |
probably damaging |
Het |
| Zfp268 |
A |
T |
4: 145,349,613 (GRCm39) |
Y350F |
possibly damaging |
Het |
| Zmynd10 |
A |
G |
9: 107,426,249 (GRCm39) |
D132G |
possibly damaging |
Het |
| Zpbp2 |
A |
G |
11: 98,444,774 (GRCm39) |
T123A |
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 |
|
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 |
|
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'- ATTTTGCGAACTGTGCACC -3'
(R):5'- ACAGCCCATCTTCAATGCTC -3'
Sequencing Primer
(F):5'- TGCACCAGGCCAGAAGTGTAC -3'
(R):5'- AATGCTCTCACATACCCATTGATATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation