Incidental Mutation 'R4615:Plcl1'
| ID |
344994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plcl1
|
| Ensembl Gene |
ENSMUSG00000038349 |
| Gene Name |
phospholipase C-like 1 |
| Synonyms |
PRIP-1, C230017K02Rik, PLC-L |
| MMRRC Submission |
041826-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.887)
|
| Stock # |
R4615 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
55405921-55754285 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55698134 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 878
(N878I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
| AlphaFold |
Q3USB7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042986
AA Change: N878I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000037854
Gene: ENSMUSG00000038349
AA Change: N878I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187059
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,330,334 (GRCm38) |
I363V |
probably benign |
Het |
| Abcc9 |
C |
G |
6: 142,689,107 (GRCm38) |
A144P |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,494,569 (GRCm38) |
|
probably null |
Het |
| Adprhl1 |
A |
G |
8: 13,242,250 (GRCm38) |
|
probably null |
Het |
| Angptl3 |
A |
T |
4: 99,031,361 (GRCm38) |
E119D |
probably benign |
Het |
| Atp8b1 |
T |
C |
18: 64,553,099 (GRCm38) |
N671S |
probably null |
Het |
| C9 |
A |
G |
15: 6,491,463 (GRCm38) |
D51G |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 105,695,074 (GRCm38) |
D1019G |
possibly damaging |
Het |
| Cdh8 |
A |
T |
8: 99,279,622 (GRCm38) |
I111K |
probably damaging |
Het |
| Cep120 |
T |
C |
18: 53,714,841 (GRCm38) |
R649G |
probably damaging |
Het |
| Clptm1l |
A |
T |
13: 73,607,738 (GRCm38) |
K158* |
probably null |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 (GRCm38) |
|
probably benign |
Het |
| Cnga1 |
A |
C |
5: 72,604,774 (GRCm38) |
L466V |
probably damaging |
Het |
| Cpsf1 |
T |
C |
15: 76,596,937 (GRCm38) |
T1240A |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,428,749 (GRCm38) |
S1117P |
probably damaging |
Het |
| Cyp2b9 |
T |
A |
7: 26,201,125 (GRCm38) |
L396Q |
probably damaging |
Het |
| Cyp8b1 |
A |
T |
9: 121,916,098 (GRCm38) |
L56* |
probably null |
Het |
| Dcbld2 |
A |
G |
16: 58,456,094 (GRCm38) |
T458A |
probably benign |
Het |
| Dio2 |
G |
T |
12: 90,729,821 (GRCm38) |
P131Q |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,158,168 (GRCm38) |
Y990C |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 19,971,488 (GRCm38) |
D594G |
possibly damaging |
Het |
| Dsp |
A |
G |
13: 38,191,632 (GRCm38) |
E1131G |
probably damaging |
Het |
| Fdx1 |
A |
T |
9: 51,948,645 (GRCm38) |
Y21* |
probably null |
Het |
| Gal3st4 |
A |
G |
5: 138,266,263 (GRCm38) |
V158A |
probably damaging |
Het |
| Gm10269 |
T |
A |
18: 20,682,763 (GRCm38) |
E67D |
probably benign |
Het |
| Gm5773 |
A |
G |
3: 93,774,032 (GRCm38) |
H337R |
probably benign |
Het |
| Gm7102 |
C |
T |
19: 61,175,926 (GRCm38) |
G24R |
unknown |
Het |
| Gng2 |
C |
T |
14: 19,891,327 (GRCm38) |
V16I |
possibly damaging |
Het |
| Gpr20 |
T |
C |
15: 73,695,736 (GRCm38) |
N268S |
probably benign |
Het |
| Ighv1-82 |
T |
C |
12: 115,952,660 (GRCm38) |
T77A |
probably benign |
Het |
| Lama2 |
C |
A |
10: 26,981,524 (GRCm38) |
V3110F |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,610,935 (GRCm38) |
L548S |
probably damaging |
Het |
| Ncapg |
A |
T |
5: 45,687,399 (GRCm38) |
M579L |
probably benign |
Het |
| Olfr1338 |
T |
C |
4: 118,754,137 (GRCm38) |
T134A |
probably benign |
Het |
| Olfr292 |
T |
C |
7: 86,694,728 (GRCm38) |
S91P |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 144,158,329 (GRCm38) |
Y346N |
probably benign |
Het |
| Orm2 |
A |
G |
4: 63,363,299 (GRCm38) |
D89G |
probably damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,308,500 (GRCm38) |
S288T |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,795,969 (GRCm38) |
C375F |
probably damaging |
Het |
| Pdcd10 |
T |
C |
3: 75,521,091 (GRCm38) |
I138M |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 81,320,737 (GRCm38) |
W536R |
probably damaging |
Het |
| Phkg2 |
C |
T |
7: 127,577,620 (GRCm38) |
R61W |
probably damaging |
Het |
| Prkdc |
A |
T |
16: 15,663,074 (GRCm38) |
D353V |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,834,287 (GRCm38) |
T954I |
probably benign |
Het |
| Ran |
A |
G |
5: 129,022,098 (GRCm38) |
I115V |
probably benign |
Het |
| Reln |
A |
G |
5: 21,972,872 (GRCm38) |
L1867P |
possibly damaging |
Het |
| S100a1 |
A |
G |
3: 90,511,255 (GRCm38) |
V84A |
possibly damaging |
Het |
| Sall2 |
G |
A |
14: 52,312,750 (GRCm38) |
P994L |
probably benign |
Het |
| Shtn1 |
A |
T |
19: 59,022,216 (GRCm38) |
I273N |
probably benign |
Het |
| Slc17a9 |
T |
C |
2: 180,731,906 (GRCm38) |
I40T |
probably benign |
Het |
| Slc29a2 |
T |
C |
19: 5,029,264 (GRCm38) |
V305A |
probably damaging |
Het |
| Ssfa2 |
A |
G |
2: 79,662,382 (GRCm38) |
E1091G |
probably damaging |
Het |
| Taar2 |
T |
A |
10: 23,941,365 (GRCm38) |
F268I |
probably benign |
Het |
| Taf3 |
G |
A |
2: 9,952,090 (GRCm38) |
T422I |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,585,156 (GRCm38) |
F99L |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,320,647 (GRCm38) |
L479P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,766,875 (GRCm38) |
I19898T |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,789,046 (GRCm38) |
T3N |
probably damaging |
Het |
| Vars |
A |
T |
17: 35,013,881 (GRCm38) |
K900N |
probably damaging |
Het |
| Vmn2r15 |
A |
G |
5: 109,293,482 (GRCm38) |
V170A |
possibly damaging |
Het |
| Vmn2r53 |
A |
T |
7: 12,582,302 (GRCm38) |
L530Q |
probably damaging |
Het |
| Zar1l |
G |
T |
5: 150,518,063 (GRCm38) |
Q33K |
probably benign |
Het |
| Zdhhc16 |
T |
C |
19: 41,943,683 (GRCm38) |
V358A |
possibly damaging |
Het |
|
| Other mutations in Plcl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Plcl1
|
APN |
1 |
55,406,536 (GRCm38) |
missense |
probably benign |
|
|
IGL00491:Plcl1
|
APN |
1 |
55,713,498 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL00753:Plcl1
|
APN |
1 |
55,696,738 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01415:Plcl1
|
APN |
1 |
55,696,396 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03024:Plcl1
|
APN |
1 |
55,695,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
K3955:Plcl1
|
UTSW |
1 |
55,697,939 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
PIT4791001:Plcl1
|
UTSW |
1 |
55,701,931 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0066:Plcl1
|
UTSW |
1 |
55,713,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0066:Plcl1
|
UTSW |
1 |
55,713,475 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0083:Plcl1
|
UTSW |
1 |
55,697,939 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R0086:Plcl1
|
UTSW |
1 |
55,715,583 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0092:Plcl1
|
UTSW |
1 |
55,696,765 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0108:Plcl1
|
UTSW |
1 |
55,697,939 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R1716:Plcl1
|
UTSW |
1 |
55,695,838 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2061:Plcl1
|
UTSW |
1 |
55,751,345 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2128:Plcl1
|
UTSW |
1 |
55,697,838 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2869:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2869:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2870:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2870:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2872:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2872:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R2873:Plcl1
|
UTSW |
1 |
55,697,150 (GRCm38) |
missense |
probably benign |
0.09 |
|
R3819:Plcl1
|
UTSW |
1 |
55,696,599 (GRCm38) |
missense |
probably benign |
|
|
R3974:Plcl1
|
UTSW |
1 |
55,698,215 (GRCm38) |
missense |
probably benign |
0.30 |
|
R3975:Plcl1
|
UTSW |
1 |
55,698,215 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4214:Plcl1
|
UTSW |
1 |
55,751,335 (GRCm38) |
nonsense |
probably null |
|
|
R4400:Plcl1
|
UTSW |
1 |
55,715,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4452:Plcl1
|
UTSW |
1 |
55,696,886 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5060:Plcl1
|
UTSW |
1 |
55,696,512 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5422:Plcl1
|
UTSW |
1 |
55,697,384 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5568:Plcl1
|
UTSW |
1 |
55,696,150 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5781:Plcl1
|
UTSW |
1 |
55,695,989 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5809:Plcl1
|
UTSW |
1 |
55,696,001 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6009:Plcl1
|
UTSW |
1 |
55,696,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6339:Plcl1
|
UTSW |
1 |
55,696,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6431:Plcl1
|
UTSW |
1 |
55,697,252 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6534:Plcl1
|
UTSW |
1 |
55,696,748 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6565:Plcl1
|
UTSW |
1 |
55,697,958 (GRCm38) |
nonsense |
probably null |
|
|
R6678:Plcl1
|
UTSW |
1 |
55,695,776 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6773:Plcl1
|
UTSW |
1 |
55,751,302 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6925:Plcl1
|
UTSW |
1 |
55,406,598 (GRCm38) |
nonsense |
probably null |
|
|
R7168:Plcl1
|
UTSW |
1 |
55,697,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7256:Plcl1
|
UTSW |
1 |
55,698,218 (GRCm38) |
missense |
probably benign |
0.45 |
|
R7522:Plcl1
|
UTSW |
1 |
55,696,364 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7527:Plcl1
|
UTSW |
1 |
55,697,114 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7536:Plcl1
|
UTSW |
1 |
55,713,481 (GRCm38) |
nonsense |
probably null |
|
|
R7585:Plcl1
|
UTSW |
1 |
55,406,449 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7591:Plcl1
|
UTSW |
1 |
55,697,449 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7689:Plcl1
|
UTSW |
1 |
55,697,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7960:Plcl1
|
UTSW |
1 |
55,697,284 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R8029:Plcl1
|
UTSW |
1 |
55,696,078 (GRCm38) |
missense |
probably benign |
0.26 |
|
R8241:Plcl1
|
UTSW |
1 |
55,695,817 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8323:Plcl1
|
UTSW |
1 |
55,697,736 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R9000:Plcl1
|
UTSW |
1 |
55,697,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9331:Plcl1
|
UTSW |
1 |
55,696,871 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9358:Plcl1
|
UTSW |
1 |
55,696,651 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9432:Plcl1
|
UTSW |
1 |
55,406,428 (GRCm38) |
missense |
probably benign |
|
|
R9452:Plcl1
|
UTSW |
1 |
55,695,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9652:Plcl1
|
UTSW |
1 |
55,696,291 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9802:Plcl1
|
UTSW |
1 |
55,696,082 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Z1176:Plcl1
|
UTSW |
1 |
55,751,284 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Plcl1
|
UTSW |
1 |
55,696,040 (GRCm38) |
missense |
probably benign |
0.20 |
|
Z1177:Plcl1
|
UTSW |
1 |
55,696,884 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGAATGTCTGCAGCCCG -3'
(R):5'- AATACAGTGGTGCATGGGTCTG -3'
Sequencing Primer
(F):5'- AATGTCTGCAGCCCGGGTAC -3'
(R):5'- TATTTGCAAGCCAGCCATCGG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation