Incidental Mutation 'R7436:Plch2'
| ID |
580542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
045512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7436 (G1)
|
| Quality Score |
221.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155068553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1358
(T1358A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030931]
[ENSMUST00000070953]
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| 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 |
probably benign
Transcript: ENSMUST00000105631
AA Change: T1358A
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: T1358A
| 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: ENSMUST00000124517
|
| SMART Domains |
Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135665
AA Change: T1253A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: T1253A
| 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
|
| 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: 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 |
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (66/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024B05Rik |
A |
G |
14: 41,805,178 (GRCm39) |
|
probably null |
Het |
| 2310034C09Rik |
A |
G |
16: 88,556,242 (GRCm39) |
Y152C |
probably benign |
Het |
| Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
| Akap1 |
A |
G |
11: 88,736,354 (GRCm39) |
S103P |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,981,435 (GRCm39) |
|
probably null |
Het |
| Apoa1 |
T |
A |
9: 46,141,100 (GRCm39) |
|
probably null |
Het |
| Asb16 |
A |
G |
11: 102,163,481 (GRCm39) |
D157G |
possibly damaging |
Het |
| Bank1 |
T |
C |
3: 135,761,561 (GRCm39) |
N748D |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,102,127 (GRCm39) |
G46W |
probably damaging |
Het |
| Ccdc202 |
A |
T |
14: 96,120,027 (GRCm39) |
K261N |
probably benign |
Het |
| Ccdc73 |
T |
A |
2: 104,782,214 (GRCm39) |
V190E |
probably damaging |
Het |
| Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
| Cyb561a3 |
A |
G |
19: 10,559,696 (GRCm39) |
Y7C |
probably damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,668 (GRCm39) |
D427V |
probably damaging |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,131 (GRCm39) |
T295A |
probably benign |
Het |
| D430041D05Rik |
T |
C |
2: 104,087,447 (GRCm39) |
T510A |
probably benign |
Het |
| Dennd6a |
G |
T |
14: 26,300,865 (GRCm39) |
E26* |
probably null |
Het |
| Dusp10 |
T |
C |
1: 183,801,418 (GRCm39) |
I395T |
probably damaging |
Het |
| Dzip3 |
T |
A |
16: 48,772,352 (GRCm39) |
H439L |
probably damaging |
Het |
| Heatr5b |
T |
A |
17: 79,075,962 (GRCm39) |
D1452V |
probably benign |
Het |
| Hsd3b2 |
A |
G |
3: 98,619,112 (GRCm39) |
F278L |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,242,975 (GRCm39) |
M702K |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,310,546 (GRCm39) |
F4081L |
probably damaging |
Het |
| Ido1 |
T |
G |
8: 25,076,932 (GRCm39) |
T209P |
probably benign |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,691,303 (GRCm39) |
Y689C |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,350,436 (GRCm39) |
R3809Q |
probably benign |
Het |
| Manea |
T |
C |
4: 26,328,228 (GRCm39) |
Y271C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,971,036 (GRCm39) |
T1014A |
probably benign |
Het |
| Nek5 |
A |
G |
8: 22,598,056 (GRCm39) |
F200L |
probably damaging |
Het |
| Nipal1 |
A |
G |
5: 72,824,984 (GRCm39) |
I226V |
probably benign |
Het |
| Nipsnap3a |
A |
T |
4: 52,994,159 (GRCm39) |
N80I |
probably damaging |
Het |
| Nmur1 |
G |
A |
1: 86,314,100 (GRCm39) |
P389S |
probably benign |
Het |
| Or10d5 |
G |
T |
9: 39,861,349 (GRCm39) |
C239* |
probably null |
Het |
| Or1p1 |
T |
C |
11: 74,179,511 (GRCm39) |
L13P |
possibly damaging |
Het |
| Or8u10 |
T |
C |
2: 85,915,251 (GRCm39) |
Y290C |
probably damaging |
Het |
| Patl2 |
A |
C |
2: 121,958,006 (GRCm39) |
V84G |
probably benign |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,328 (GRCm39) |
V546A |
probably damaging |
Het |
| Phf20l1 |
G |
T |
15: 66,469,599 (GRCm39) |
S168I |
possibly damaging |
Het |
| Phgdh |
T |
C |
3: 98,247,045 (GRCm39) |
N35S |
probably benign |
Het |
| Pigw |
A |
T |
11: 84,768,789 (GRCm39) |
M180K |
probably damaging |
Het |
| Pkhd1 |
G |
T |
1: 20,270,925 (GRCm39) |
H3209Q |
probably benign |
Het |
| Plbd2 |
A |
G |
5: 120,624,861 (GRCm39) |
F436L |
probably damaging |
Het |
| Poll |
C |
T |
19: 45,541,496 (GRCm39) |
V491M |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,024,553 (GRCm39) |
|
probably null |
Het |
| Ppp1r35 |
G |
A |
5: 137,778,279 (GRCm39) |
W258* |
probably null |
Het |
| Ptpdc1 |
A |
T |
13: 48,740,142 (GRCm39) |
F430I |
probably benign |
Het |
| Ptprh |
T |
C |
7: 4,555,742 (GRCm39) |
E739G |
probably damaging |
Het |
| Ramp2 |
T |
C |
11: 101,138,765 (GRCm39) |
V148A |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,501,747 (GRCm39) |
|
probably null |
Het |
| Rbm5 |
A |
G |
9: 107,627,593 (GRCm39) |
|
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,254,241 (GRCm39) |
S88C |
probably benign |
Het |
| Rpl12 |
A |
G |
2: 32,853,836 (GRCm39) |
I155V |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,841,520 (GRCm39) |
T275S |
probably benign |
Het |
| Senp5 |
C |
T |
16: 31,794,847 (GRCm39) |
E596K |
unknown |
Het |
| Serpinb9d |
A |
G |
13: 33,379,916 (GRCm39) |
Y85C |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,307,142 (GRCm39) |
Y65F |
probably benign |
Het |
| Snrnp200 |
G |
A |
2: 127,068,404 (GRCm39) |
|
probably null |
Het |
| Spatc1 |
A |
T |
15: 76,152,568 (GRCm39) |
Q66L |
probably benign |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,439,110 (GRCm39) |
D342G |
probably benign |
Het |
| Txk |
T |
A |
5: 72,853,922 (GRCm39) |
T472S |
probably damaging |
Het |
| Ube2j2 |
T |
C |
4: 156,041,788 (GRCm39) |
V249A |
probably damaging |
Het |
| Utrn |
A |
C |
10: 12,315,535 (GRCm39) |
N3025K |
possibly damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,862 (GRCm39) |
M168L |
probably benign |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,694 (GRCm39) |
S157T |
probably benign |
Het |
| Zfp977 |
A |
G |
7: 42,229,884 (GRCm39) |
S214P |
probably benign |
Het |
| Zscan10 |
T |
C |
17: 23,828,979 (GRCm39) |
L507P |
possibly damaging |
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 |
|
|
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 |
|
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'- CTCATGGCCTACAGAACAGG -3'
(R):5'- TGTGACCAAGAGCAAATCGAAC -3'
Sequencing Primer
(F):5'- AACGCCTCAGGAAGCTGG -3'
(R):5'- TCGAACCCCAACCTGCGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation