Incidental Mutation 'IGL03370:Plch2'
ID | 420271 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Plch2
|
Ensembl Gene |
ENSMUSG00000029055 |
Gene Name | phospholipase C, eta 2 |
Synonyms | Plcl4, A930027K05Rik, PLCeta2 |
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL03370
|
Quality Score | |
Status |
|
Chromosome | 4 |
Chromosomal Location | 154983115-155056784 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 154986914 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 244
(S244G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141152
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105631
AA Change: S1003G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000101256 Gene: ENSMUSG00000029055 AA Change: S1003G
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 |
unknown
Transcript: ENSMUST00000124517
AA Change: S131G
|
SMART Domains |
Protein: ENSMUSP00000122139 Gene: ENSMUSG00000029055 AA Change: S131G
Domain | Start | End | E-Value | Type |
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127661
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135665
AA Change: S898G
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000118292 Gene: ENSMUSG00000029055 AA Change: S898G
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 benign
Transcript: ENSMUST00000139976
AA Change: S1003G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000122704 Gene: ENSMUSG00000029055 AA Change: S1003G
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 |
unknown
Transcript: ENSMUST00000175982
AA Change: S751G
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176194
AA Change: S902G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000134750 Gene: ENSMUSG00000029055 AA Change: S902G
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 |
noncoding transcript
Transcript: ENSMUST00000176620
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186598
AA Change: S244G
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141152 Gene: ENSMUSG00000029055 AA Change: S244G
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 |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
A |
G |
4: 56,741,173 |
Y62H |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,939,055 |
I296T |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,488,541 |
|
probably null |
Het |
Daam2 |
G |
T |
17: 49,486,501 |
D329E |
probably benign |
Het |
Defb26 |
A |
G |
2: 152,507,982 |
V126A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,812,795 |
I1535N |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,555,151 |
Y431N |
probably benign |
Het |
Fbxw26 |
T |
G |
9: 109,746,019 |
I13L |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,822,064 |
H300L |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 106,420,701 |
T1277I |
probably benign |
Het |
Gigyf1 |
G |
T |
5: 137,525,690 |
V1041L |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,915,381 |
R567H |
probably benign |
Het |
Kpna6 |
G |
A |
4: 129,655,521 |
T156M |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,497,673 |
E2309K |
unknown |
Het |
Lyn |
T |
C |
4: 3,780,931 |
Y357H |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,695,490 |
V2605A |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,487,385 |
D1023G |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,864,777 |
R3820L |
probably benign |
Het |
Mus81 |
A |
G |
19: 5,484,963 |
|
probably benign |
Het |
Nup188 |
A |
G |
2: 30,340,641 |
Y1397C |
possibly damaging |
Het |
Pgd |
A |
T |
4: 149,165,228 |
V29D |
probably damaging |
Het |
Rapgef5 |
C |
A |
12: 117,730,559 |
T372K |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,282,866 |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,756,599 |
V2680E |
possibly damaging |
Het |
Sgsm3 |
A |
C |
15: 81,011,654 |
|
probably null |
Het |
Slc38a1 |
C |
T |
15: 96,579,347 |
V362I |
possibly damaging |
Het |
Sun1 |
T |
A |
5: 139,231,131 |
D308E |
probably damaging |
Het |
Tns1 |
C |
T |
1: 73,985,894 |
V387M |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,751,739 |
G22937C |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,895,160 |
A1258S |
probably benign |
Het |
Vmn2r74 |
A |
G |
7: 85,958,057 |
F153L |
probably benign |
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 |
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 |
R1306:Plch2
|
UTSW |
4 |
155007140 |
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 |
|
RF014:Plch2
|
UTSW |
4 |
155007120 |
missense |
probably damaging |
1.00 |
|
Posted On | 2016-08-02 |