Incidental Mutation 'R7038:Plch2'
| ID |
568379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
045138-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7038 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to C
at 155074489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105631
|
| SMART Domains |
Protein: ENSMUSP00000101256
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 |
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 null
Transcript: ENSMUST00000135665
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
| 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 null
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 null
Transcript: ENSMUST00000175982
|
| Predicted Effect |
probably null
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 null
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 |
0.9756 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (101/102) |
| 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: 102 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,468,979 (GRCm39) |
S748P |
possibly damaging |
Het |
| Alppl2 |
T |
C |
1: 87,016,833 (GRCm39) |
D104G |
probably damaging |
Het |
| Als2 |
C |
A |
1: 59,206,673 (GRCm39) |
W1590L |
possibly damaging |
Het |
| Aopep |
G |
T |
13: 63,338,339 (GRCm39) |
V571F |
possibly damaging |
Het |
| Aplf |
C |
T |
6: 87,630,805 (GRCm39) |
W210* |
probably null |
Het |
| Ash1l |
A |
T |
3: 88,889,978 (GRCm39) |
H619L |
probably benign |
Het |
| Baiap3 |
G |
A |
17: 25,462,814 (GRCm39) |
R1075C |
probably benign |
Het |
| Bpifb1 |
G |
T |
2: 154,044,589 (GRCm39) |
V19F |
probably damaging |
Het |
| Capn1 |
A |
T |
19: 6,064,349 (GRCm39) |
L50Q |
probably benign |
Het |
| Carmil1 |
A |
G |
13: 24,323,318 (GRCm39) |
S245P |
probably damaging |
Het |
| Cavin4 |
A |
G |
4: 48,672,479 (GRCm39) |
H308R |
probably benign |
Het |
| Cd4 |
C |
T |
6: 124,847,217 (GRCm39) |
V316M |
probably damaging |
Het |
| Cdcp1 |
T |
C |
9: 123,002,662 (GRCm39) |
Y803C |
probably damaging |
Het |
| Cep295nl |
A |
G |
11: 118,223,815 (GRCm39) |
I343T |
probably benign |
Het |
| Cgn |
T |
G |
3: 94,670,392 (GRCm39) |
T1021P |
possibly damaging |
Het |
| Cilk1 |
C |
T |
9: 78,016,484 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,822,937 (GRCm39) |
V140A |
unknown |
Het |
| Cops8 |
T |
C |
1: 90,531,320 (GRCm39) |
|
probably benign |
Het |
| Crhbp |
A |
G |
13: 95,580,699 (GRCm39) |
Y54H |
probably damaging |
Het |
| Cyp2c29 |
G |
A |
19: 39,275,571 (GRCm39) |
V4I |
probably benign |
Het |
| Cyp2j6 |
T |
A |
4: 96,423,708 (GRCm39) |
Y220F |
probably benign |
Het |
| D130043K22Rik |
A |
G |
13: 25,077,391 (GRCm39) |
D1008G |
probably damaging |
Het |
| Ddx47 |
T |
A |
6: 135,000,336 (GRCm39) |
V444E |
possibly damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,070,181 (GRCm39) |
C465* |
probably null |
Het |
| Dst |
C |
A |
1: 34,221,879 (GRCm39) |
S2561* |
probably null |
Het |
| Dstyk |
T |
C |
1: 132,381,847 (GRCm39) |
S534P |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,232,943 (GRCm39) |
|
probably benign |
Het |
| Eipr1 |
C |
T |
12: 28,801,817 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
A |
1: 63,771,032 (GRCm39) |
D129E |
possibly damaging |
Het |
| Fndc3b |
C |
T |
3: 27,555,618 (GRCm39) |
G312D |
probably benign |
Het |
| Gab2 |
T |
A |
7: 96,952,290 (GRCm39) |
I562N |
probably damaging |
Het |
| Gata5 |
C |
A |
2: 179,975,685 (GRCm39) |
D160Y |
possibly damaging |
Het |
| Gcn1 |
G |
A |
5: 115,749,203 (GRCm39) |
V1912I |
probably damaging |
Het |
| Gdf5 |
C |
A |
2: 155,786,655 (GRCm39) |
Q107H |
probably damaging |
Het |
| Gdpd1 |
A |
G |
11: 86,926,118 (GRCm39) |
Y276H |
probably damaging |
Het |
| Gins1 |
A |
G |
2: 150,759,791 (GRCm39) |
Y81C |
probably damaging |
Het |
| Gm28360 |
T |
C |
1: 117,781,329 (GRCm39) |
C107R |
probably damaging |
Het |
| Hadha |
T |
C |
5: 30,324,998 (GRCm39) |
|
probably null |
Het |
| Hcn4 |
A |
T |
9: 58,730,867 (GRCm39) |
I25F |
unknown |
Het |
| Hectd4 |
A |
G |
5: 121,437,660 (GRCm39) |
Y1095C |
possibly damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,531,730 (GRCm39) |
L73Q |
probably damaging |
Het |
| Hspa12a |
A |
G |
19: 58,793,132 (GRCm39) |
V351A |
probably damaging |
Het |
| Htr1b |
T |
A |
9: 81,514,296 (GRCm39) |
M104L |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,917,212 (GRCm39) |
T1563A |
probably benign |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Liph |
A |
T |
16: 21,795,009 (GRCm39) |
V201E |
probably damaging |
Het |
| Ltn1 |
T |
C |
16: 87,221,759 (GRCm39) |
D196G |
probably damaging |
Het |
| Med15 |
C |
T |
16: 17,470,591 (GRCm39) |
D589N |
possibly damaging |
Het |
| Mknk1 |
A |
G |
4: 115,714,307 (GRCm39) |
D26G |
probably damaging |
Het |
| Mpi |
T |
C |
9: 57,452,500 (GRCm39) |
D344G |
probably damaging |
Het |
| Mrc2 |
A |
G |
11: 105,223,062 (GRCm39) |
E435G |
possibly damaging |
Het |
| Mrps5 |
A |
G |
2: 127,442,786 (GRCm39) |
E285G |
probably damaging |
Het |
| Ms4a20 |
A |
T |
19: 11,087,675 (GRCm39) |
F85L |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,531,764 (GRCm39) |
M6197L |
probably damaging |
Het |
| Myo3b |
A |
T |
2: 69,925,552 (GRCm39) |
E34D |
probably benign |
Het |
| Nsd3 |
T |
C |
8: 26,131,279 (GRCm39) |
S215P |
probably damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,368,679 (GRCm39) |
|
probably benign |
Het |
| Ntan1 |
T |
C |
16: 13,644,774 (GRCm39) |
S37P |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,067,254 (GRCm39) |
Y765N |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,715 (GRCm39) |
D3V |
probably benign |
Het |
| Or2aa1 |
T |
C |
11: 59,480,408 (GRCm39) |
Y169C |
possibly damaging |
Het |
| Or4s2b |
A |
T |
2: 88,509,085 (GRCm39) |
R288S |
probably damaging |
Het |
| Or7g30 |
A |
C |
9: 19,352,888 (GRCm39) |
L226F |
possibly damaging |
Het |
| Pald1 |
T |
C |
10: 61,175,078 (GRCm39) |
H724R |
probably benign |
Het |
| Pcdhb7 |
A |
T |
18: 37,475,257 (GRCm39) |
D131V |
possibly damaging |
Het |
| Pds5b |
G |
T |
5: 150,724,225 (GRCm39) |
R1269S |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,273,520 (GRCm39) |
V645A |
probably damaging |
Het |
| Plag1 |
G |
T |
4: 3,904,676 (GRCm39) |
H172N |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,929,453 (GRCm39) |
V103E |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,386,984 (GRCm39) |
M1143K |
probably benign |
Het |
| Ptpn18 |
T |
A |
1: 34,498,906 (GRCm39) |
M1K |
probably null |
Het |
| Rasgrf2 |
G |
A |
13: 92,130,952 (GRCm39) |
T703I |
possibly damaging |
Het |
| Rassf6 |
A |
T |
5: 90,757,584 (GRCm39) |
H125Q |
probably benign |
Het |
| Sdad1 |
A |
G |
5: 92,446,049 (GRCm39) |
|
probably null |
Het |
| Sf3a3 |
T |
A |
4: 124,622,219 (GRCm39) |
F426L |
probably benign |
Het |
| Sgsm3 |
T |
C |
15: 80,892,576 (GRCm39) |
F6L |
possibly damaging |
Het |
| Slc14a2 |
A |
T |
18: 78,202,252 (GRCm39) |
I626N |
probably damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,436,083 (GRCm39) |
N165S |
probably benign |
Het |
| Slc41a1 |
C |
A |
1: 131,769,795 (GRCm39) |
A305D |
possibly damaging |
Het |
| Smyd4 |
C |
A |
11: 75,281,340 (GRCm39) |
P271Q |
probably damaging |
Het |
| Spag17 |
C |
A |
3: 99,891,925 (GRCm39) |
H260N |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,327,283 (GRCm39) |
V38E |
possibly damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Syt14 |
T |
A |
1: 192,665,966 (GRCm39) |
|
probably benign |
Het |
| Tbx21 |
A |
G |
11: 96,990,597 (GRCm39) |
S329P |
probably damaging |
Het |
| Tex2 |
A |
T |
11: 106,402,726 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
A |
G |
2: 120,824,058 (GRCm39) |
I244M |
possibly damaging |
Het |
| Tnks |
A |
T |
8: 35,318,790 (GRCm39) |
N830K |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,156,264 (GRCm39) |
E145G |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,723,342 (GRCm39) |
D7G |
probably damaging |
Het |
| Ttc28 |
T |
A |
5: 111,414,445 (GRCm39) |
M1320K |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,455,114 (GRCm39) |
V270G |
probably damaging |
Het |
| Unc5a |
A |
G |
13: 55,152,297 (GRCm39) |
R62G |
probably damaging |
Het |
| Unc5d |
A |
G |
8: 29,205,749 (GRCm39) |
|
probably null |
Het |
| Utrn |
T |
C |
10: 12,558,082 (GRCm39) |
H1459R |
probably damaging |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,263 (GRCm39) |
L64Q |
possibly damaging |
Het |
| Wdr55 |
T |
G |
18: 36,893,473 (GRCm39) |
L45R |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,357 (GRCm39) |
Y306H |
probably damaging |
Het |
| Zfp398 |
G |
T |
6: 47,843,243 (GRCm39) |
D300Y |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,982 (GRCm39) |
V377A |
probably damaging |
Het |
| Zfp457 |
G |
A |
13: 67,441,997 (GRCm39) |
H97Y |
probably benign |
Het |
| Zfp467 |
T |
C |
6: 48,415,072 (GRCm39) |
T527A |
probably 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 |
|
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'- TCGATGATCTAGAGACAGGGTG -3'
(R):5'- GGTACGCCCTTGACATTAGC -3'
Sequencing Primer
(F):5'- TGGCACTGGAATCCCAAGC -3'
(R):5'- TTGACATTAGCAGCCTGACC -3'
|
| Posted On |
2019-07-11 |
Incidental Mutation