Incidental Mutation 'R7084:Plch2'
ID |
549738 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch2
|
Ensembl Gene |
ENSMUSG00000029055 |
Gene Name |
phospholipase C, eta 2 |
Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
MMRRC Submission |
045178-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7084 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 155071448 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 977
(G977D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122704
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
AlphaFold |
A2AP18 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: G977D
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101256 Gene: ENSMUSG00000029055 AA Change: G977D
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 |
|
SMART Domains |
Protein: ENSMUSP00000122139 Gene: ENSMUSG00000029055 AA Change: G105D
Domain | Start | End | E-Value | Type |
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: G872D
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118292 Gene: ENSMUSG00000029055 AA Change: G872D
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: G977D
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000122704 Gene: ENSMUSG00000029055 AA Change: G977D
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176194
AA Change: G876D
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134750 Gene: ENSMUSG00000029055 AA Change: G876D
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: G218D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141152 Gene: ENSMUSG00000029055 AA Change: G218D
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (81/82) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
A |
T |
13: 119,624,721 (GRCm39) |
D8E |
unknown |
Het |
Abca5 |
T |
A |
11: 110,192,371 (GRCm39) |
I714L |
probably benign |
Het |
Abce1 |
T |
A |
8: 80,426,043 (GRCm39) |
S245C |
probably benign |
Het |
Abcg1 |
T |
A |
17: 31,325,105 (GRCm39) |
D310E |
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,637,030 (GRCm39) |
I394N |
probably benign |
Het |
Apob |
A |
T |
12: 8,059,591 (GRCm39) |
D2691V |
probably benign |
Het |
Arhgap18 |
A |
G |
10: 26,748,734 (GRCm39) |
T340A |
possibly damaging |
Het |
Arsb |
A |
T |
13: 94,077,124 (GRCm39) |
Q497L |
probably benign |
Het |
Asic5 |
T |
C |
3: 81,919,318 (GRCm39) |
I354T |
probably benign |
Het |
Atp6v0a1 |
T |
C |
11: 100,924,868 (GRCm39) |
C318R |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,226,137 (GRCm39) |
Y362H |
probably benign |
Het |
Crip3 |
T |
C |
17: 46,741,716 (GRCm39) |
Y113H |
probably benign |
Het |
Dcaf4 |
AT |
A |
12: 83,584,571 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,481,573 (GRCm39) |
I475F |
|
Het |
Dqx1 |
T |
A |
6: 83,043,436 (GRCm39) |
Y674N |
probably damaging |
Het |
Dync2h1 |
G |
T |
9: 7,113,214 (GRCm39) |
Q2437K |
possibly damaging |
Het |
Ednra |
A |
T |
8: 78,391,734 (GRCm39) |
C385* |
probably null |
Het |
Fam216a |
G |
A |
5: 122,507,623 (GRCm39) |
T68I |
probably benign |
Het |
Fbxw22 |
A |
G |
9: 109,233,291 (GRCm39) |
L14P |
probably damaging |
Het |
Fem1al |
G |
T |
11: 29,775,009 (GRCm39) |
H149Q |
probably damaging |
Het |
Fkbp10 |
A |
G |
11: 100,312,129 (GRCm39) |
I230V |
possibly damaging |
Het |
Ggn |
C |
A |
7: 28,872,423 (GRCm39) |
A637E |
probably damaging |
Het |
Hcrtr2 |
T |
C |
9: 76,137,942 (GRCm39) |
D391G |
probably benign |
Het |
Heatr5b |
A |
T |
17: 79,117,992 (GRCm39) |
V817D |
possibly damaging |
Het |
Il1f10 |
G |
A |
2: 24,183,682 (GRCm39) |
W120* |
probably null |
Het |
Irf5 |
C |
A |
6: 29,535,876 (GRCm39) |
R297S |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,263,798 (GRCm39) |
T438A |
possibly damaging |
Het |
Jsrp1 |
T |
C |
10: 80,644,410 (GRCm39) |
D332G |
possibly damaging |
Het |
Kank4 |
A |
T |
4: 98,659,582 (GRCm39) |
V832D |
probably damaging |
Het |
Kcnip3 |
C |
T |
2: 127,352,856 (GRCm39) |
S25N |
probably benign |
Het |
Klk1b16 |
C |
T |
7: 43,788,910 (GRCm39) |
H48Y |
probably benign |
Het |
Klrh1 |
C |
A |
6: 129,743,673 (GRCm39) |
A204S |
possibly damaging |
Het |
Krtap5-4 |
G |
A |
7: 141,857,609 (GRCm39) |
C93Y |
unknown |
Het |
Lacc1 |
T |
A |
14: 77,267,096 (GRCm39) |
Q389L |
probably benign |
Het |
Lin9 |
C |
A |
1: 180,515,661 (GRCm39) |
T477K |
probably benign |
Het |
Lpar2 |
A |
T |
8: 70,276,256 (GRCm39) |
N15I |
probably damaging |
Het |
Ltbp2 |
C |
A |
12: 84,915,459 (GRCm39) |
C200F |
probably damaging |
Het |
Mall |
G |
T |
2: 127,550,793 (GRCm39) |
H122Q |
probably benign |
Het |
Mast3 |
T |
C |
8: 71,232,117 (GRCm39) |
I1287V |
probably benign |
Het |
Mindy4 |
T |
C |
6: 55,255,220 (GRCm39) |
I566T |
probably benign |
Het |
Mme |
T |
C |
3: 63,235,638 (GRCm39) |
Y195H |
probably damaging |
Het |
Mpzl1 |
T |
C |
1: 165,432,267 (GRCm39) |
T173A |
probably benign |
Het |
Mri1 |
G |
T |
8: 84,977,708 (GRCm39) |
T209N |
|
Het |
Myo1e |
A |
G |
9: 70,245,083 (GRCm39) |
I394V |
probably damaging |
Het |
Nat14 |
T |
C |
7: 4,927,329 (GRCm39) |
V167A |
possibly damaging |
Het |
Nfasc |
A |
G |
1: 132,498,247 (GRCm39) |
Y1212H |
unknown |
Het |
Nsun7 |
T |
A |
5: 66,452,764 (GRCm39) |
L493Q |
probably damaging |
Het |
Obsl1 |
A |
T |
1: 75,464,394 (GRCm39) |
S1637R |
probably benign |
Het |
Ocstamp |
A |
T |
2: 165,239,957 (GRCm39) |
Y76* |
probably null |
Het |
Or5b95 |
A |
C |
19: 12,658,198 (GRCm39) |
H242P |
probably damaging |
Het |
Or6c2b |
T |
A |
10: 128,947,416 (GRCm39) |
K293* |
probably null |
Het |
Or8b52 |
G |
A |
9: 38,576,565 (GRCm39) |
R192C |
probably benign |
Het |
Otog |
T |
A |
7: 45,947,990 (GRCm39) |
C145* |
probably null |
Het |
Padi6 |
T |
A |
4: 140,468,869 (GRCm39) |
K5* |
probably null |
Het |
Pcdha5 |
T |
A |
18: 37,094,615 (GRCm39) |
S375T |
probably benign |
Het |
Pde10a |
C |
T |
17: 9,159,994 (GRCm39) |
P140S |
probably benign |
Het |
Pgbd1 |
C |
G |
13: 21,607,300 (GRCm39) |
C298S |
possibly damaging |
Het |
Pou2f3 |
T |
C |
9: 43,040,188 (GRCm39) |
T367A |
probably damaging |
Het |
Ppm1j |
T |
A |
3: 104,692,276 (GRCm39) |
Y352N |
probably damaging |
Het |
Prkag2 |
T |
C |
5: 25,226,967 (GRCm39) |
T97A |
probably benign |
Het |
Rpl36a-ps1 |
T |
A |
14: 99,231,660 (GRCm39) |
Y26F |
probably benign |
Het |
Sctr |
A |
T |
1: 119,991,001 (GRCm39) |
N445Y |
possibly damaging |
Het |
Serping1 |
C |
T |
2: 84,603,835 (GRCm39) |
V69I |
probably benign |
Het |
Slc8a2 |
T |
A |
7: 15,878,963 (GRCm39) |
L483Q |
probably benign |
Het |
Spag17 |
T |
C |
3: 99,846,586 (GRCm39) |
F37L |
probably benign |
Het |
Srrm2 |
T |
A |
17: 24,039,290 (GRCm39) |
M1978K |
probably damaging |
Het |
Tcp11 |
T |
C |
17: 28,285,995 (GRCm39) |
Q540R |
probably benign |
Het |
Thnsl1 |
G |
T |
2: 21,217,141 (GRCm39) |
R298S |
possibly damaging |
Het |
Tigd5 |
T |
A |
15: 75,782,230 (GRCm39) |
Y197* |
probably null |
Het |
Tmprss11g |
A |
T |
5: 86,640,059 (GRCm39) |
L203Q |
probably damaging |
Het |
Trim35 |
T |
A |
14: 66,546,271 (GRCm39) |
V346E |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,598,708 (GRCm39) |
I19402V |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,749,689 (GRCm39) |
E3787K |
probably benign |
Het |
Tut1 |
G |
A |
19: 8,942,778 (GRCm39) |
V622I |
probably benign |
Het |
Vmn1r2 |
A |
G |
4: 3,172,134 (GRCm39) |
I18V |
probably benign |
Het |
Zbbx |
T |
C |
3: 75,046,853 (GRCm39) |
N22S |
possibly damaging |
Het |
Zfp169 |
A |
C |
13: 48,652,339 (GRCm39) |
M26R |
probably benign |
Het |
Zfp180 |
T |
A |
7: 23,804,686 (GRCm39) |
H368Q |
probably damaging |
Het |
Zfp638 |
T |
A |
6: 83,930,108 (GRCm39) |
S770T |
possibly damaging |
Het |
Znrf1 |
T |
C |
8: 112,263,774 (GRCm39) |
M1T |
probably null |
Het |
|
Other mutations in Plch2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Plch2
|
APN |
4 |
155,091,099 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02024:Plch2
|
APN |
4 |
155,127,595 (GRCm39) |
intron |
probably benign |
|
IGL02580:Plch2
|
APN |
4 |
155,069,221 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03370:Plch2
|
APN |
4 |
155,071,371 (GRCm39) |
missense |
probably benign |
0.18 |
IGL03407:Plch2
|
APN |
4 |
155,074,255 (GRCm39) |
missense |
probably damaging |
1.00 |
tolerant
|
UTSW |
4 |
155,069,092 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4418001:Plch2
|
UTSW |
4 |
155,073,960 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Plch2
|
UTSW |
4 |
155,093,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:Plch2
|
UTSW |
4 |
155,069,815 (GRCm39) |
unclassified |
probably benign |
|
R0347:Plch2
|
UTSW |
4 |
155,071,178 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0361:Plch2
|
UTSW |
4 |
155,091,168 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0413:Plch2
|
UTSW |
4 |
155,091,373 (GRCm39) |
critical splice donor site |
probably null |
|
R0487:Plch2
|
UTSW |
4 |
155,093,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R0514:Plch2
|
UTSW |
4 |
155,083,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0734:Plch2
|
UTSW |
4 |
155,080,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R0766:Plch2
|
UTSW |
4 |
155,074,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1306:Plch2
|
UTSW |
4 |
155,091,597 (GRCm39) |
missense |
probably damaging |
1.00 |
R1312:Plch2
|
UTSW |
4 |
155,074,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Plch2
|
UTSW |
4 |
155,068,189 (GRCm39) |
missense |
probably benign |
0.02 |
R1467:Plch2
|
UTSW |
4 |
155,068,189 (GRCm39) |
missense |
probably benign |
0.02 |
R1602:Plch2
|
UTSW |
4 |
155,068,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R1717:Plch2
|
UTSW |
4 |
155,082,729 (GRCm39) |
missense |
probably benign |
|
R1731:Plch2
|
UTSW |
4 |
155,091,451 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1769:Plch2
|
UTSW |
4 |
155,084,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R1875:Plch2
|
UTSW |
4 |
155,082,965 (GRCm39) |
missense |
probably damaging |
1.00 |
R1974:Plch2
|
UTSW |
4 |
155,069,410 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2031:Plch2
|
UTSW |
4 |
155,127,484 (GRCm39) |
intron |
probably benign |
|
R2050:Plch2
|
UTSW |
4 |
155,085,275 (GRCm39) |
missense |
probably benign |
0.00 |
R2061:Plch2
|
UTSW |
4 |
155,127,298 (GRCm39) |
intron |
probably benign |
|
R2073:Plch2
|
UTSW |
4 |
155,074,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R2075:Plch2
|
UTSW |
4 |
155,074,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R2109:Plch2
|
UTSW |
4 |
155,069,054 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2126:Plch2
|
UTSW |
4 |
155,083,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R2265:Plch2
|
UTSW |
4 |
155,077,461 (GRCm39) |
missense |
probably benign |
0.06 |
R2266:Plch2
|
UTSW |
4 |
155,077,461 (GRCm39) |
missense |
probably benign |
0.06 |
R2269:Plch2
|
UTSW |
4 |
155,077,461 (GRCm39) |
missense |
probably benign |
0.06 |
R2280:Plch2
|
UTSW |
4 |
155,068,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R2281:Plch2
|
UTSW |
4 |
155,068,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R2432:Plch2
|
UTSW |
4 |
155,070,621 (GRCm39) |
makesense |
probably null |
|
R2971:Plch2
|
UTSW |
4 |
155,075,224 (GRCm39) |
missense |
probably benign |
0.29 |
R3437:Plch2
|
UTSW |
4 |
155,075,470 (GRCm39) |
critical splice donor site |
probably null |
|
R3980:Plch2
|
UTSW |
4 |
155,069,255 (GRCm39) |
missense |
probably benign |
0.00 |
R4757:Plch2
|
UTSW |
4 |
155,080,690 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4827:Plch2
|
UTSW |
4 |
155,075,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R4828:Plch2
|
UTSW |
4 |
155,069,092 (GRCm39) |
missense |
probably benign |
0.01 |
R4869:Plch2
|
UTSW |
4 |
155,073,885 (GRCm39) |
missense |
probably benign |
0.28 |
R5020:Plch2
|
UTSW |
4 |
155,091,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R5050:Plch2
|
UTSW |
4 |
155,127,766 (GRCm39) |
intron |
probably benign |
|
R5126:Plch2
|
UTSW |
4 |
155,084,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R5237:Plch2
|
UTSW |
4 |
155,095,251 (GRCm39) |
missense |
probably benign |
|
R5274:Plch2
|
UTSW |
4 |
155,083,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R5296:Plch2
|
UTSW |
4 |
155,074,456 (GRCm39) |
splice site |
probably null |
|
R5324:Plch2
|
UTSW |
4 |
155,068,991 (GRCm39) |
missense |
probably benign |
|
R5475:Plch2
|
UTSW |
4 |
155,084,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R5494:Plch2
|
UTSW |
4 |
155,075,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R5811:Plch2
|
UTSW |
4 |
155,077,024 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6083:Plch2
|
UTSW |
4 |
155,085,275 (GRCm39) |
missense |
probably benign |
0.00 |
R6092:Plch2
|
UTSW |
4 |
155,068,829 (GRCm39) |
missense |
probably benign |
0.02 |
R6253:Plch2
|
UTSW |
4 |
155,091,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R6456:Plch2
|
UTSW |
4 |
155,077,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R7038:Plch2
|
UTSW |
4 |
155,074,489 (GRCm39) |
splice site |
probably null |
|
R7210:Plch2
|
UTSW |
4 |
155,093,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R7216:Plch2
|
UTSW |
4 |
155,068,685 (GRCm39) |
missense |
probably benign |
|
R7264:Plch2
|
UTSW |
4 |
155,083,424 (GRCm39) |
missense |
probably damaging |
0.98 |
R7291:Plch2
|
UTSW |
4 |
155,082,929 (GRCm39) |
missense |
probably damaging |
1.00 |
R7423:Plch2
|
UTSW |
4 |
155,068,194 (GRCm39) |
missense |
probably damaging |
1.00 |
R7436:Plch2
|
UTSW |
4 |
155,068,553 (GRCm39) |
missense |
probably benign |
0.01 |
R7438:Plch2
|
UTSW |
4 |
155,084,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R7594:Plch2
|
UTSW |
4 |
155,091,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Plch2
|
UTSW |
4 |
155,075,619 (GRCm39) |
missense |
probably damaging |
0.96 |
R7698:Plch2
|
UTSW |
4 |
155,087,244 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7844:Plch2
|
UTSW |
4 |
155,073,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R7939:Plch2
|
UTSW |
4 |
155,087,235 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8003:Plch2
|
UTSW |
4 |
155,138,980 (GRCm39) |
missense |
unknown |
|
R8007:Plch2
|
UTSW |
4 |
155,087,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R8281:Plch2
|
UTSW |
4 |
155,091,430 (GRCm39) |
missense |
probably benign |
0.07 |
R8434:Plch2
|
UTSW |
4 |
155,074,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R8504:Plch2
|
UTSW |
4 |
155,068,852 (GRCm39) |
missense |
probably benign |
0.31 |
R8516:Plch2
|
UTSW |
4 |
155,070,764 (GRCm39) |
missense |
probably benign |
|
R8558:Plch2
|
UTSW |
4 |
155,083,391 (GRCm39) |
missense |
probably damaging |
1.00 |
R8722:Plch2
|
UTSW |
4 |
155,069,860 (GRCm39) |
unclassified |
probably benign |
|
R8768:Plch2
|
UTSW |
4 |
155,083,324 (GRCm39) |
missense |
probably damaging |
1.00 |
R8787:Plch2
|
UTSW |
4 |
155,070,875 (GRCm39) |
missense |
probably benign |
0.00 |
R8826:Plch2
|
UTSW |
4 |
155,071,140 (GRCm39) |
missense |
probably benign |
0.00 |
R8955:Plch2
|
UTSW |
4 |
155,077,023 (GRCm39) |
missense |
probably benign |
0.00 |
R9032:Plch2
|
UTSW |
4 |
155,084,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R9085:Plch2
|
UTSW |
4 |
155,084,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R9423:Plch2
|
UTSW |
4 |
155,071,049 (GRCm39) |
missense |
|
|
R9649:Plch2
|
UTSW |
4 |
155,068,516 (GRCm39) |
missense |
probably benign |
|
R9652:Plch2
|
UTSW |
4 |
155,082,942 (GRCm39) |
missense |
probably benign |
|
R9725:Plch2
|
UTSW |
4 |
155,084,992 (GRCm39) |
missense |
probably damaging |
1.00 |
R9742:Plch2
|
UTSW |
4 |
155,082,912 (GRCm39) |
missense |
probably damaging |
0.99 |
R9789:Plch2
|
UTSW |
4 |
155,095,322 (GRCm39) |
critical splice donor site |
probably null |
|
RF014:Plch2
|
UTSW |
4 |
155,091,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCTGACCTCTCTTGAGTAG -3'
(R):5'- GCTACAGGTCCATGGTAGCTAC -3'
Sequencing Primer
(F):5'- TAGAGGGTGCCACGTCATCAG -3'
(R):5'- TAGCTACAGGTCCATGGTAGCTAC -3'
|
Posted On |
2019-05-15 |