Incidental Mutation 'R1306:Plch2'
ID | 157797 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch2
|
Ensembl Gene |
ENSMUSG00000029055 |
Gene Name | phospholipase C, eta 2 |
Synonyms | Plcl4, A930027K05Rik, PLCeta2 |
MMRRC Submission |
039372-MU
|
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | R1306 (G1)
|
Quality Score | 225 |
Status |
Not validated
|
Chromosome | 4 |
Chromosomal Location | 154983115-155056784 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 155007140 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 71
(E71G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134750
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000126098]
[ENSMUST00000131173]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105631
AA Change: E172G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101256 Gene: ENSMUSG00000029055 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
45 |
N/A |
INTRINSIC |
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
PH
|
122 |
231 |
1.8e-6 |
SMART |
EFh
|
247 |
275 |
7.29e-4 |
SMART |
EFh
|
283 |
312 |
4.67e-2 |
SMART |
Pfam:EF-hand_like
|
317 |
399 |
1.7e-26 |
PFAM |
PLCXc
|
400 |
545 |
6.76e-76 |
SMART |
low complexity region
|
559 |
572 |
N/A |
INTRINSIC |
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
PLCYc
|
707 |
821 |
1.25e-56 |
SMART |
C2
|
840 |
948 |
1.66e-21 |
SMART |
low complexity region
|
1088 |
1107 |
N/A |
INTRINSIC |
low complexity region
|
1227 |
1236 |
N/A |
INTRINSIC |
low complexity region
|
1356 |
1369 |
N/A |
INTRINSIC |
low complexity region
|
1421 |
1451 |
N/A |
INTRINSIC |
low complexity region
|
1454 |
1466 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126098
|
SMART Domains |
Protein: ENSMUSP00000115440 Gene: ENSMUSG00000029055
Domain | Start | End | E-Value | Type |
SCOP:d1mai__
|
39 |
58 |
2e-3 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131173
AA Change: E89G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118629 Gene: ENSMUSG00000029055 AA Change: E89G
Domain | Start | End | E-Value | Type |
Blast:PH
|
31 |
111 |
6e-49 |
BLAST |
SCOP:d1mai__
|
34 |
111 |
4e-18 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: E67G
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118292 Gene: ENSMUSG00000029055 AA Change: E67G
Domain | Start | End | E-Value | Type |
PH
|
17 |
126 |
1.8e-6 |
SMART |
EFh
|
142 |
170 |
7.29e-4 |
SMART |
EFh
|
178 |
207 |
4.67e-2 |
SMART |
Pfam:EF-hand_like
|
212 |
294 |
2.8e-25 |
PFAM |
PLCXc
|
295 |
440 |
6.76e-76 |
SMART |
low complexity region
|
454 |
467 |
N/A |
INTRINSIC |
low complexity region
|
554 |
571 |
N/A |
INTRINSIC |
PLCYc
|
602 |
716 |
1.25e-56 |
SMART |
C2
|
735 |
843 |
1.66e-21 |
SMART |
low complexity region
|
983 |
1002 |
N/A |
INTRINSIC |
low complexity region
|
1122 |
1131 |
N/A |
INTRINSIC |
low complexity region
|
1251 |
1264 |
N/A |
INTRINSIC |
low complexity region
|
1316 |
1346 |
N/A |
INTRINSIC |
low complexity region
|
1349 |
1361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000139976
AA Change: E172G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000122704 Gene: ENSMUSG00000029055 AA Change: E172G
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
45 |
N/A |
INTRINSIC |
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
PH
|
122 |
231 |
1.8e-6 |
SMART |
EFh
|
247 |
275 |
7.29e-4 |
SMART |
EFh
|
283 |
312 |
4.67e-2 |
SMART |
Pfam:EF-hand_like
|
317 |
399 |
3.2e-27 |
PFAM |
PLCXc
|
400 |
545 |
6.76e-76 |
SMART |
low complexity region
|
559 |
572 |
N/A |
INTRINSIC |
low complexity region
|
659 |
676 |
N/A |
INTRINSIC |
PLCYc
|
707 |
821 |
1.25e-56 |
SMART |
C2
|
840 |
948 |
1.66e-21 |
SMART |
low complexity region
|
1087 |
1100 |
N/A |
INTRINSIC |
low complexity region
|
1166 |
1194 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000145662
AA Change: E96G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119864 Gene: ENSMUSG00000029055 AA Change: E96G
Domain | Start | End | E-Value | Type |
PH
|
46 |
155 |
1.8e-6 |
SMART |
EFh
|
171 |
199 |
7.29e-4 |
SMART |
EFh
|
207 |
236 |
4.67e-2 |
SMART |
Pfam:EF-hand_like
|
241 |
323 |
5.2e-27 |
PFAM |
PLCXc
|
324 |
469 |
6.76e-76 |
SMART |
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175982
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: E71G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134750 Gene: ENSMUSG00000029055 AA Change: E71G
Domain | Start | End | E-Value | Type |
PH
|
21 |
130 |
1.8e-6 |
SMART |
EFh
|
146 |
174 |
7.29e-4 |
SMART |
EFh
|
182 |
211 |
4.67e-2 |
SMART |
Pfam:EF-hand_like
|
216 |
298 |
1.6e-25 |
PFAM |
PLCXc
|
299 |
444 |
6.76e-76 |
SMART |
low complexity region
|
458 |
471 |
N/A |
INTRINSIC |
low complexity region
|
558 |
575 |
N/A |
INTRINSIC |
PLCYc
|
606 |
720 |
1.25e-56 |
SMART |
C2
|
739 |
847 |
1.66e-21 |
SMART |
low complexity region
|
986 |
999 |
N/A |
INTRINSIC |
low complexity region
|
1065 |
1093 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000186598
AA Change: E89G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141152 Gene: ENSMUSG00000029055 AA Change: E89G
Domain | Start | End | E-Value | Type |
C2
|
79 |
189 |
5.8e-18 |
SMART |
low complexity region
|
328 |
341 |
N/A |
INTRINSIC |
low complexity region
|
407 |
435 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009] PHENOTYPE: Mice homozygous for a reporter allele exhibit no apparent abnormal phenotype. [provided by MGI curators]
|
Allele List at MGI | |
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk3 |
T |
A |
7: 81,093,873 |
L1146H |
probably damaging |
Het |
Atad2b |
A |
G |
12: 4,974,239 |
I121M |
probably benign |
Het |
Atg2a |
A |
T |
19: 6,253,021 |
T1053S |
probably benign |
Het |
Bend5 |
C |
T |
4: 111,459,773 |
Q127* |
probably null |
Het |
Ccser1 |
G |
A |
6: 62,380,106 |
D843N |
probably damaging |
Het |
Dennd4b |
A |
G |
3: 90,271,165 |
T512A |
probably benign |
Het |
Dnmbp |
A |
T |
19: 43,901,779 |
D516E |
probably benign |
Het |
Dok3 |
C |
A |
13: 55,527,448 |
E86* |
probably null |
Het |
Fat3 |
A |
G |
9: 16,376,679 |
I516T |
probably damaging |
Het |
Gabbr1 |
T |
A |
17: 37,055,990 |
|
probably null |
Het |
Gjd2 |
T |
C |
2: 114,011,865 |
T44A |
probably damaging |
Het |
Mcm7 |
C |
A |
5: 138,167,203 |
A480S |
probably damaging |
Het |
Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,109,031 |
|
probably benign |
Het |
Ntn4 |
C |
T |
10: 93,707,353 |
R314W |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 58,932,432 |
H967R |
possibly damaging |
Het |
Pik3c2g |
A |
G |
6: 139,772,428 |
N227S |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,573,172 |
S1278P |
probably damaging |
Het |
Pnmal1 |
A |
G |
7: 16,962,025 |
R428G |
probably benign |
Het |
Sertad2 |
T |
C |
11: 20,648,388 |
S195P |
probably benign |
Het |
Slc19a3 |
A |
G |
1: 83,022,762 |
L178S |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,770,988 |
D139G |
possibly damaging |
Het |
Tm4sf19 |
G |
A |
16: 32,407,902 |
V170M |
probably damaging |
Het |
Vwa3a |
C |
G |
7: 120,800,390 |
S1031R |
possibly damaging |
Het |
|
Other mutations in Plch2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Plch2
|
APN |
4 |
155006642 |
missense |
probably damaging |
1.00 |
IGL02024:Plch2
|
APN |
4 |
155043138 |
intron |
probably benign |
|
IGL02580:Plch2
|
APN |
4 |
154984764 |
missense |
probably benign |
0.03 |
IGL03370:Plch2
|
APN |
4 |
154986914 |
missense |
probably benign |
0.18 |
IGL03407:Plch2
|
APN |
4 |
154989798 |
missense |
probably damaging |
1.00 |
tolerant
|
UTSW |
4 |
154984635 |
missense |
probably benign |
0.01 |
PIT4418001:Plch2
|
UTSW |
4 |
154989503 |
missense |
probably damaging |
1.00 |
PIT4445001:Plch2
|
UTSW |
4 |
155009026 |
missense |
probably damaging |
1.00 |
R0117:Plch2
|
UTSW |
4 |
154985358 |
unclassified |
probably benign |
|
R0347:Plch2
|
UTSW |
4 |
154986721 |
missense |
possibly damaging |
0.91 |
R0361:Plch2
|
UTSW |
4 |
155006711 |
missense |
possibly damaging |
0.95 |
R0413:Plch2
|
UTSW |
4 |
155006916 |
critical splice donor site |
probably null |
|
R0487:Plch2
|
UTSW |
4 |
155009012 |
missense |
probably damaging |
1.00 |
R0514:Plch2
|
UTSW |
4 |
154998886 |
missense |
probably damaging |
1.00 |
R0734:Plch2
|
UTSW |
4 |
154996283 |
missense |
probably damaging |
1.00 |
R0766:Plch2
|
UTSW |
4 |
154989799 |
missense |
probably damaging |
1.00 |
R1312:Plch2
|
UTSW |
4 |
154989799 |
missense |
probably damaging |
1.00 |
R1467:Plch2
|
UTSW |
4 |
154983732 |
missense |
probably benign |
0.02 |
R1467:Plch2
|
UTSW |
4 |
154983732 |
missense |
probably benign |
0.02 |
R1602:Plch2
|
UTSW |
4 |
154984450 |
missense |
probably damaging |
0.99 |
R1717:Plch2
|
UTSW |
4 |
154998272 |
missense |
probably benign |
|
R1731:Plch2
|
UTSW |
4 |
155006994 |
missense |
possibly damaging |
0.83 |
R1769:Plch2
|
UTSW |
4 |
155000083 |
missense |
probably damaging |
1.00 |
R1875:Plch2
|
UTSW |
4 |
154998508 |
missense |
probably damaging |
1.00 |
R1974:Plch2
|
UTSW |
4 |
154984953 |
missense |
possibly damaging |
0.77 |
R2031:Plch2
|
UTSW |
4 |
155043027 |
intron |
probably benign |
|
R2050:Plch2
|
UTSW |
4 |
155000818 |
missense |
probably benign |
0.00 |
R2061:Plch2
|
UTSW |
4 |
155042841 |
intron |
probably benign |
|
R2073:Plch2
|
UTSW |
4 |
154989909 |
missense |
probably damaging |
1.00 |
R2075:Plch2
|
UTSW |
4 |
154989909 |
missense |
probably damaging |
1.00 |
R2109:Plch2
|
UTSW |
4 |
154984597 |
missense |
possibly damaging |
0.92 |
R2126:Plch2
|
UTSW |
4 |
154998999 |
missense |
probably damaging |
1.00 |
R2265:Plch2
|
UTSW |
4 |
154993004 |
missense |
probably benign |
0.06 |
R2266:Plch2
|
UTSW |
4 |
154993004 |
missense |
probably benign |
0.06 |
R2269:Plch2
|
UTSW |
4 |
154993004 |
missense |
probably benign |
0.06 |
R2280:Plch2
|
UTSW |
4 |
154984309 |
missense |
probably damaging |
1.00 |
R2281:Plch2
|
UTSW |
4 |
154984309 |
missense |
probably damaging |
1.00 |
R2432:Plch2
|
UTSW |
4 |
154986164 |
makesense |
probably null |
|
R2971:Plch2
|
UTSW |
4 |
154990767 |
missense |
probably benign |
0.29 |
R3437:Plch2
|
UTSW |
4 |
154991013 |
critical splice donor site |
probably null |
|
R3980:Plch2
|
UTSW |
4 |
154984798 |
missense |
probably benign |
0.00 |
R4757:Plch2
|
UTSW |
4 |
154996233 |
missense |
possibly damaging |
0.88 |
R4827:Plch2
|
UTSW |
4 |
154991113 |
missense |
probably damaging |
1.00 |
R4828:Plch2
|
UTSW |
4 |
154984635 |
missense |
probably benign |
0.01 |
R4869:Plch2
|
UTSW |
4 |
154989428 |
missense |
probably benign |
0.28 |
R5020:Plch2
|
UTSW |
4 |
155007083 |
missense |
probably damaging |
1.00 |
R5050:Plch2
|
UTSW |
4 |
155043309 |
intron |
probably benign |
|
R5126:Plch2
|
UTSW |
4 |
155000519 |
missense |
probably damaging |
1.00 |
R5237:Plch2
|
UTSW |
4 |
155010794 |
missense |
probably benign |
|
R5274:Plch2
|
UTSW |
4 |
154998954 |
missense |
probably damaging |
1.00 |
R5296:Plch2
|
UTSW |
4 |
154989999 |
splice site |
probably null |
|
R5324:Plch2
|
UTSW |
4 |
154984534 |
missense |
probably benign |
|
R5475:Plch2
|
UTSW |
4 |
155000137 |
missense |
probably damaging |
1.00 |
R5494:Plch2
|
UTSW |
4 |
154991122 |
missense |
probably damaging |
1.00 |
R5811:Plch2
|
UTSW |
4 |
154992567 |
missense |
possibly damaging |
0.62 |
R6083:Plch2
|
UTSW |
4 |
155000818 |
missense |
probably benign |
0.00 |
R6092:Plch2
|
UTSW |
4 |
154984372 |
missense |
probably benign |
0.02 |
R6253:Plch2
|
UTSW |
4 |
155007101 |
missense |
probably damaging |
1.00 |
R6456:Plch2
|
UTSW |
4 |
154993002 |
missense |
probably damaging |
1.00 |
R7038:Plch2
|
UTSW |
4 |
154990032 |
splice site |
probably null |
|
R7084:Plch2
|
UTSW |
4 |
154986991 |
missense |
probably benign |
0.31 |
R7210:Plch2
|
UTSW |
4 |
155009086 |
missense |
probably damaging |
1.00 |
R7216:Plch2
|
UTSW |
4 |
154984228 |
missense |
probably benign |
|
R7264:Plch2
|
UTSW |
4 |
154998967 |
missense |
probably damaging |
0.98 |
R7291:Plch2
|
UTSW |
4 |
154998472 |
missense |
probably damaging |
1.00 |
R7423:Plch2
|
UTSW |
4 |
154983737 |
missense |
probably damaging |
1.00 |
R7436:Plch2
|
UTSW |
4 |
154984096 |
missense |
probably benign |
0.01 |
R7438:Plch2
|
UTSW |
4 |
155000460 |
missense |
probably damaging |
1.00 |
R7594:Plch2
|
UTSW |
4 |
155007027 |
missense |
probably damaging |
1.00 |
R7663:Plch2
|
UTSW |
4 |
154991162 |
missense |
probably damaging |
0.96 |
R7698:Plch2
|
UTSW |
4 |
155002787 |
missense |
possibly damaging |
0.95 |
R7844:Plch2
|
UTSW |
4 |
154989465 |
missense |
probably damaging |
1.00 |
R7939:Plch2
|
UTSW |
4 |
155002778 |
missense |
possibly damaging |
0.91 |
R8003:Plch2
|
UTSW |
4 |
155054523 |
missense |
unknown |
|
R8007:Plch2
|
UTSW |
4 |
155002831 |
missense |
probably damaging |
1.00 |
R8281:Plch2
|
UTSW |
4 |
155006973 |
missense |
probably benign |
0.07 |
R8434:Plch2
|
UTSW |
4 |
154989735 |
missense |
probably damaging |
1.00 |
R8504:Plch2
|
UTSW |
4 |
154984395 |
missense |
probably benign |
0.31 |
R8516:Plch2
|
UTSW |
4 |
154986307 |
missense |
probably benign |
|
R8558:Plch2
|
UTSW |
4 |
154998934 |
missense |
probably damaging |
1.00 |
R8768:Plch2
|
UTSW |
4 |
154998867 |
missense |
probably damaging |
1.00 |
RF014:Plch2
|
UTSW |
4 |
155007120 |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGAGCCTAAGGATATTGGTCCCTG -3'
(R):5'- ACTTGTTACTGAAGCAGCCGCAG -3'
Sequencing Primer
(F):5'- CTAAGGATATTGGTCCCTGGTACG -3'
(R):5'- GGTGCCTAGACTGCCAAAG -3'
|
Posted On | 2014-02-18 |