Incidental Mutation 'R1974:Plch2'
ID |
221381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch2
|
Ensembl Gene |
ENSMUSG00000029055 |
Gene Name |
phospholipase C, eta 2 |
Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
MMRRC Submission |
039987-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1974 (G1)
|
Quality Score |
220 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 155069410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 1072
(F1072S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101256
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030931]
[ENSMUST00000070953]
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000186598]
[ENSMUST00000139976]
[ENSMUST00000176194]
|
AlphaFold |
A2AP18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030931
|
SMART Domains |
Protein: ENSMUSP00000030931 Gene: ENSMUSG00000029056
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
Pfam:Fumble
|
35 |
369 |
1.5e-142 |
PFAM |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
Pfam:DUF89
|
451 |
763 |
1.4e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000070953
|
SMART Domains |
Protein: ENSMUSP00000064330 Gene: ENSMUSG00000029056
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
Pfam:Fumble
|
36 |
367 |
1.8e-133 |
PFAM |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
Pfam:DUF89
|
451 |
810 |
3.1e-64 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: F1072S
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101256 Gene: ENSMUSG00000029055 AA Change: F1072S
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 |
noncoding transcript
Transcript: ENSMUST00000105632
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124517
|
SMART Domains |
Protein: ENSMUSP00000122139 Gene: ENSMUSG00000029055
Domain | Start | End | E-Value | Type |
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127661
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: F967S
PolyPhen 2
Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000118292 Gene: ENSMUSG00000029055 AA Change: F967S
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 |
unknown
Transcript: ENSMUST00000175982
AA Change: F820S
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176620
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129386
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148934
|
SMART Domains |
Protein: ENSMUSP00000125663 Gene: ENSMUSG00000029056
Domain | Start | End | E-Value | Type |
Pfam:Fumble
|
1 |
225 |
2.6e-103 |
PFAM |
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
Pfam:DUF89
|
309 |
472 |
1.9e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186598
|
SMART Domains |
Protein: ENSMUSP00000141152 Gene: ENSMUSG00000029055
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139976
|
SMART Domains |
Protein: ENSMUSP00000122704 Gene: ENSMUSG00000029055
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 benign
Transcript: ENSMUST00000176194
|
SMART Domains |
Protein: ENSMUSP00000134750 Gene: ENSMUSG00000029055
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,773,028 (GRCm39) |
L739Q |
probably damaging |
Het |
4933436I01Rik |
A |
T |
X: 66,963,655 (GRCm39) |
Y401* |
probably null |
Het |
Abcg3 |
A |
G |
5: 105,111,504 (GRCm39) |
V321A |
probably benign |
Het |
Acad10 |
C |
A |
5: 121,764,248 (GRCm39) |
V894L |
possibly damaging |
Het |
Adam9 |
A |
G |
8: 25,482,240 (GRCm39) |
I255T |
probably damaging |
Het |
Ago3 |
T |
C |
4: 126,240,544 (GRCm39) |
Y785C |
probably damaging |
Het |
Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
Akap4 |
A |
G |
X: 6,943,595 (GRCm39) |
S633G |
probably benign |
Het |
Alox15 |
T |
A |
11: 70,240,799 (GRCm39) |
T194S |
probably benign |
Het |
Amh |
T |
C |
10: 80,642,250 (GRCm39) |
S207P |
probably benign |
Het |
Apc |
T |
A |
18: 34,433,057 (GRCm39) |
C415S |
possibly damaging |
Het |
Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
Atp5mf |
A |
T |
5: 145,121,389 (GRCm39) |
L64Q |
probably damaging |
Het |
Barhl2 |
C |
G |
5: 106,605,179 (GRCm39) |
E177Q |
probably benign |
Het |
C1qtnf5 |
T |
C |
9: 44,020,072 (GRCm39) |
V232A |
probably damaging |
Het |
Calr |
T |
C |
8: 85,570,786 (GRCm39) |
I290V |
probably benign |
Het |
Cdh19 |
G |
C |
1: 110,817,889 (GRCm39) |
Q618E |
possibly damaging |
Het |
Celsr2 |
G |
T |
3: 108,321,530 (GRCm39) |
D427E |
probably damaging |
Het |
Cep250 |
T |
C |
2: 155,831,424 (GRCm39) |
S1294P |
probably damaging |
Het |
Chrna7 |
T |
A |
7: 62,749,034 (GRCm39) |
T483S |
probably damaging |
Het |
Clmn |
A |
T |
12: 104,758,121 (GRCm39) |
W132R |
probably damaging |
Het |
Cpsf2 |
G |
A |
12: 101,956,306 (GRCm39) |
D370N |
probably benign |
Het |
Crnn |
T |
C |
3: 93,056,594 (GRCm39) |
V460A |
probably benign |
Het |
Daam1 |
T |
A |
12: 72,035,703 (GRCm39) |
I957N |
probably damaging |
Het |
Defb9 |
T |
C |
8: 22,371,905 (GRCm39) |
K36R |
probably benign |
Het |
Dock10 |
T |
A |
1: 80,488,143 (GRCm39) |
I2007F |
possibly damaging |
Het |
Dpm1 |
A |
T |
2: 168,059,667 (GRCm39) |
V143D |
probably damaging |
Het |
Dync1h1 |
T |
C |
12: 110,592,166 (GRCm39) |
V1110A |
possibly damaging |
Het |
Erlec1 |
T |
G |
11: 30,889,604 (GRCm39) |
K373N |
possibly damaging |
Het |
Fbxo40 |
C |
T |
16: 36,790,303 (GRCm39) |
G269E |
probably benign |
Het |
Fbxw7 |
T |
A |
3: 84,862,242 (GRCm39) |
C70S |
possibly damaging |
Het |
Fhip2a |
T |
C |
19: 57,373,809 (GRCm39) |
F690L |
probably damaging |
Het |
Fnbp1 |
G |
T |
2: 30,943,059 (GRCm39) |
R280S |
probably null |
Het |
Gapvd1 |
G |
A |
2: 34,590,853 (GRCm39) |
R940C |
probably damaging |
Het |
Gfod2 |
T |
C |
8: 106,444,142 (GRCm39) |
K134E |
possibly damaging |
Het |
Gpi1 |
A |
T |
7: 33,920,228 (GRCm39) |
|
probably null |
Het |
Grik2 |
A |
T |
10: 49,008,923 (GRCm39) |
N721K |
possibly damaging |
Het |
Gsn |
G |
T |
2: 35,191,483 (GRCm39) |
G455V |
probably damaging |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,574,771 (GRCm39) |
T781A |
unknown |
Het |
Iscu |
A |
G |
5: 113,915,079 (GRCm39) |
|
probably benign |
Het |
Kcna4 |
G |
A |
2: 107,126,565 (GRCm39) |
G433D |
possibly damaging |
Het |
Kir3dl2 |
T |
A |
X: 135,357,024 (GRCm39) |
N146I |
probably benign |
Het |
Klrg1 |
T |
A |
6: 122,259,721 (GRCm39) |
Q17L |
possibly damaging |
Het |
Krt82 |
T |
G |
15: 101,453,597 (GRCm39) |
Q263P |
probably benign |
Het |
Mfrp |
T |
C |
9: 44,017,669 (GRCm39) |
C554R |
probably damaging |
Het |
Minar1 |
T |
G |
9: 89,483,256 (GRCm39) |
T714P |
probably damaging |
Het |
Mst1r |
T |
C |
9: 107,791,962 (GRCm39) |
Y833H |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
Nipal4 |
T |
C |
11: 46,042,210 (GRCm39) |
N157S |
probably damaging |
Het |
Notch2 |
G |
A |
3: 97,980,071 (GRCm39) |
G195D |
probably damaging |
Het |
Nrcam |
A |
T |
12: 44,610,776 (GRCm39) |
H492L |
probably benign |
Het |
Or10aa1 |
A |
T |
1: 173,870,154 (GRCm39) |
I213F |
probably damaging |
Het |
Or4p21 |
A |
T |
2: 88,276,853 (GRCm39) |
I143N |
probably damaging |
Het |
Papln |
G |
A |
12: 83,828,811 (GRCm39) |
R817H |
probably damaging |
Het |
Pcnx2 |
T |
C |
8: 126,614,110 (GRCm39) |
E447G |
probably benign |
Het |
Pdp2 |
T |
C |
8: 105,320,538 (GRCm39) |
V129A |
probably benign |
Het |
Prag1 |
T |
A |
8: 36,570,081 (GRCm39) |
D221E |
probably damaging |
Het |
Prkg1 |
T |
C |
19: 31,563,095 (GRCm39) |
D102G |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,769,011 (GRCm39) |
D662E |
probably benign |
Het |
Ptprn |
T |
C |
1: 75,231,464 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
G |
6: 22,986,310 (GRCm39) |
D370G |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,590,886 (GRCm39) |
S1637P |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,403,696 (GRCm39) |
H642L |
probably benign |
Het |
Slc30a5 |
A |
T |
13: 100,950,461 (GRCm39) |
F209I |
probably benign |
Het |
Slc4a3 |
G |
T |
1: 75,528,835 (GRCm39) |
E508* |
probably null |
Het |
Stpg2 |
C |
T |
3: 139,014,944 (GRCm39) |
R370* |
probably null |
Het |
Tas2r113 |
T |
A |
6: 132,870,796 (GRCm39) |
F275I |
probably benign |
Het |
Tmem132d |
T |
G |
5: 128,346,263 (GRCm39) |
K86N |
probably damaging |
Het |
Tpgs2 |
A |
T |
18: 25,273,593 (GRCm39) |
F189L |
probably damaging |
Het |
Trmt6 |
A |
G |
2: 132,652,968 (GRCm39) |
S104P |
probably damaging |
Het |
Trpv3 |
T |
C |
11: 73,174,514 (GRCm39) |
S294P |
probably damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,228,727 (GRCm39) |
|
probably null |
Het |
Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
Vmn2r107 |
T |
A |
17: 20,575,879 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
probably benign |
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 |
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 |
|
R7084:Plch2
|
UTSW |
4 |
155,071,448 (GRCm39) |
missense |
probably benign |
0.31 |
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'- TCCAAAAGCTCCCAGAGATGTC -3'
(R):5'- AAAGCCTGGTTGCTGGGATATC -3'
Sequencing Primer
(F):5'- CAGAGATGTCTGCTGGGAGC -3'
(R):5'- GACTGGTGGTCCCTACCCTTG -3'
|
Posted On |
2014-08-25 |