Incidental Mutation 'R5422:Plcl1'
ID |
426606 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plcl1
|
Ensembl Gene |
ENSMUSG00000038349 |
Gene Name |
phospholipase C-like 1 |
Synonyms |
C230017K02Rik, PRIP-1, PLC-L |
MMRRC Submission |
042846-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.877)
|
Stock # |
R5422 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
55445080-55793444 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 55736543 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 628
(Y628F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037854
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042986]
|
AlphaFold |
Q3USB7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042986
AA Change: Y628F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000037854 Gene: ENSMUSG00000038349 AA Change: Y628F
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: 97.1%
- 20x: 94.9%
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
T |
C |
8: 114,425,606 (GRCm39) |
S1219G |
probably benign |
Het |
Adgrg5 |
T |
A |
8: 95,660,580 (GRCm39) |
I73N |
probably damaging |
Het |
Agmat |
C |
A |
4: 141,483,144 (GRCm39) |
H193N |
probably damaging |
Het |
Ambn |
T |
C |
5: 88,612,370 (GRCm39) |
|
probably null |
Het |
Atp8b5 |
T |
A |
4: 43,366,644 (GRCm39) |
C803S |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,928,507 (GRCm39) |
R109S |
probably benign |
Het |
Btnl6 |
C |
T |
17: 34,733,081 (GRCm39) |
G261R |
possibly damaging |
Het |
Clk3 |
A |
G |
9: 57,672,721 (GRCm39) |
V27A |
probably benign |
Het |
Clu |
A |
G |
14: 66,213,051 (GRCm39) |
S146G |
probably damaging |
Het |
Cyp2w1 |
T |
C |
5: 139,338,528 (GRCm39) |
F43L |
probably benign |
Het |
Elf3 |
C |
T |
1: 135,182,778 (GRCm39) |
E316K |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,479,349 (GRCm39) |
D218E |
probably damaging |
Het |
Ereg |
T |
C |
5: 91,222,666 (GRCm39) |
|
probably null |
Het |
Ewsr1 |
A |
G |
11: 5,030,668 (GRCm39) |
|
probably benign |
Het |
Fat4 |
A |
G |
3: 38,941,394 (GRCm39) |
I96V |
possibly damaging |
Het |
Fgl2 |
T |
G |
5: 21,580,808 (GRCm39) |
N383K |
probably damaging |
Het |
Fkbp11 |
A |
T |
15: 98,625,989 (GRCm39) |
|
probably null |
Het |
Fn3k |
C |
A |
11: 121,340,948 (GRCm39) |
P201Q |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,812,572 (GRCm39) |
I2964V |
probably benign |
Het |
Gbx1 |
C |
T |
5: 24,709,667 (GRCm39) |
V393I |
possibly damaging |
Het |
Gch1 |
C |
T |
14: 47,394,906 (GRCm39) |
A187T |
probably damaging |
Het |
Ghdc |
C |
A |
11: 100,660,020 (GRCm39) |
K242N |
probably benign |
Het |
Ghrhr |
A |
G |
6: 55,365,188 (GRCm39) |
H394R |
probably benign |
Het |
Gje1 |
G |
A |
10: 14,592,428 (GRCm39) |
S118L |
probably damaging |
Het |
Hnrnpa2b1 |
A |
T |
6: 51,442,208 (GRCm39) |
S236R |
probably benign |
Het |
Kcnj5 |
A |
G |
9: 32,229,001 (GRCm39) |
Y66H |
probably benign |
Het |
Kif15 |
T |
A |
9: 122,813,954 (GRCm39) |
|
probably null |
Het |
Magi3 |
C |
T |
3: 103,958,684 (GRCm39) |
C467Y |
probably damaging |
Het |
Map7 |
G |
T |
10: 20,142,512 (GRCm39) |
V303F |
probably damaging |
Het |
Mapk11 |
A |
G |
15: 89,030,488 (GRCm39) |
L135P |
probably damaging |
Het |
Mapkapk5 |
T |
A |
5: 121,669,785 (GRCm39) |
|
probably null |
Het |
Myh7b |
A |
C |
2: 155,472,954 (GRCm39) |
Q1405P |
probably damaging |
Het |
Nalcn |
A |
T |
14: 123,752,777 (GRCm39) |
I328N |
probably damaging |
Het |
Nprl2 |
C |
A |
9: 107,420,796 (GRCm39) |
R144S |
probably benign |
Het |
Ogfr |
G |
T |
2: 180,237,067 (GRCm39) |
D551Y |
possibly damaging |
Het |
Ogfr |
A |
T |
2: 180,237,068 (GRCm39) |
D551V |
probably benign |
Het |
Or6b13 |
A |
T |
7: 139,782,305 (GRCm39) |
V126E |
probably damaging |
Het |
Or8c10 |
A |
T |
9: 38,279,270 (GRCm39) |
T143S |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,686,545 (GRCm39) |
K101E |
probably benign |
Het |
Pcdhb16 |
A |
T |
18: 37,612,920 (GRCm39) |
T627S |
probably damaging |
Het |
Pdzrn4 |
G |
A |
15: 92,575,502 (GRCm39) |
G303S |
probably benign |
Het |
Ptpn9 |
T |
A |
9: 56,940,441 (GRCm39) |
W194R |
probably damaging |
Het |
Ranbp9 |
A |
T |
13: 43,573,102 (GRCm39) |
M474K |
probably benign |
Het |
Rasgef1a |
T |
A |
6: 118,065,095 (GRCm39) |
F370Y |
probably damaging |
Het |
Rassf5 |
C |
A |
1: 131,108,911 (GRCm39) |
R218L |
possibly damaging |
Het |
Scart1 |
A |
T |
7: 139,804,068 (GRCm39) |
H422L |
probably benign |
Het |
Serpine2 |
C |
A |
1: 79,794,592 (GRCm39) |
V114L |
probably benign |
Het |
Serpine2 |
T |
C |
1: 79,799,206 (GRCm39) |
Y16C |
probably benign |
Het |
Sgms1 |
G |
T |
19: 32,137,232 (GRCm39) |
N111K |
probably damaging |
Het |
Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Tbc1d17 |
A |
T |
7: 44,498,292 (GRCm39) |
M1K |
probably null |
Het |
Tcf12 |
A |
T |
9: 71,776,320 (GRCm39) |
H403Q |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,667,512 (GRCm39) |
I678T |
probably damaging |
Het |
Thsd7b |
T |
C |
1: 129,849,071 (GRCm39) |
S928P |
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,952,715 (GRCm39) |
F1540I |
probably damaging |
Het |
Tph2 |
T |
A |
10: 114,915,669 (GRCm39) |
D457V |
possibly damaging |
Het |
Usp9y |
T |
C |
Y: 1,314,676 (GRCm39) |
I2112V |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Zfp335 |
T |
C |
2: 164,749,650 (GRCm39) |
K249R |
probably damaging |
Het |
Zfp54 |
C |
A |
17: 21,654,788 (GRCm39) |
S427R |
probably benign |
Het |
Zfp607b |
A |
G |
7: 27,401,813 (GRCm39) |
T90A |
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 |
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 |
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'- ATGTCAGGGGATTACAACGGTG -3'
(R):5'- GCATGATAGATGGCCTGAGGAC -3'
Sequencing Primer
(F):5'- TGAGCAGAAACATATCTGGCTCTG -3'
(R):5'- CATTTTGAAGAAACCAGCCAGTGTG -3'
|
Posted On |
2016-09-01 |