Incidental Mutation 'R4828:Plch2'
| ID |
372564 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
042444-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155069092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 1073
(R1073Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118292
(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 |
probably benign
Transcript: ENSMUST00000105631
AA Change: R1178Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: R1178Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000129386
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135665
AA Change: R1073Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: R1073Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000176620
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000175982
AA Change: R926Q
|
| 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 |
|
| 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 |
|
| Meta Mutation Damage Score |
0.1171 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| Validation Efficiency |
98% (106/108) |
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Adat3 |
T |
C |
10: 80,442,881 (GRCm39) |
S240P |
probably benign |
Het |
| Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
| Alg2 |
A |
G |
4: 47,471,563 (GRCm39) |
V415A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,482,184 (GRCm39) |
E141G |
probably benign |
Het |
| Ampd1 |
A |
C |
3: 102,988,413 (GRCm39) |
T115P |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 66,291,632 (GRCm39) |
L1267P |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,528,441 (GRCm39) |
S315R |
probably damaging |
Het |
| Atp10d |
A |
C |
5: 72,396,461 (GRCm39) |
D222A |
probably benign |
Het |
| B9d1 |
A |
G |
11: 61,398,461 (GRCm39) |
E47G |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,785,968 (GRCm39) |
D118G |
probably damaging |
Het |
| Bnip3l |
G |
T |
14: 67,246,208 (GRCm39) |
P9Q |
probably damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,807 (GRCm39) |
N287S |
probably benign |
Het |
| Ccdc190 |
A |
G |
1: 169,761,465 (GRCm39) |
D189G |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,413,210 (GRCm39) |
K583E |
probably damaging |
Het |
| Cd84 |
A |
T |
1: 171,700,315 (GRCm39) |
N144I |
probably damaging |
Het |
| Chrnd |
A |
G |
1: 87,119,293 (GRCm39) |
|
probably benign |
Het |
| Clca3b |
G |
T |
3: 144,550,273 (GRCm39) |
T224K |
probably benign |
Het |
| Crcp |
A |
G |
5: 130,088,603 (GRCm39) |
T119A |
probably damaging |
Het |
| Cul2 |
T |
C |
18: 3,431,013 (GRCm39) |
Y596H |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,610,715 (GRCm39) |
W356R |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,317,400 (GRCm39) |
Q425L |
possibly damaging |
Het |
| Dnah7b |
T |
A |
1: 46,167,272 (GRCm39) |
V588D |
possibly damaging |
Het |
| Dock4 |
G |
T |
12: 40,718,436 (GRCm39) |
G245W |
probably damaging |
Het |
| Dpf3 |
A |
G |
12: 83,341,273 (GRCm39) |
I160T |
possibly damaging |
Het |
| Dstyk |
A |
G |
1: 132,361,875 (GRCm39) |
T102A |
probably benign |
Het |
| Eif3d |
A |
T |
15: 77,844,229 (GRCm39) |
L425* |
probably null |
Het |
| Elac2 |
A |
G |
11: 64,886,153 (GRCm39) |
E477G |
probably damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
| Ext2 |
G |
A |
2: 93,626,112 (GRCm39) |
T316I |
probably benign |
Het |
| Fbf1 |
A |
G |
11: 116,039,777 (GRCm39) |
V694A |
probably benign |
Het |
| Fgg |
G |
A |
3: 82,915,677 (GRCm39) |
|
probably benign |
Het |
| Flnb |
G |
A |
14: 7,919,238 (GRCm38) |
V1664I |
probably benign |
Het |
| Flnc |
G |
A |
6: 29,455,166 (GRCm39) |
D1932N |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,409 (GRCm39) |
|
noncoding transcript |
Het |
| Gnai1 |
G |
A |
5: 18,496,470 (GRCm39) |
S151L |
probably damaging |
Het |
| Golph3l |
G |
A |
3: 95,499,059 (GRCm39) |
R67H |
possibly damaging |
Het |
| Grk5 |
T |
A |
19: 60,976,213 (GRCm39) |
C42* |
probably null |
Het |
| Herc1 |
G |
A |
9: 66,404,625 (GRCm39) |
|
probably null |
Het |
| Hey2 |
A |
T |
10: 30,710,179 (GRCm39) |
H191Q |
possibly damaging |
Het |
| Il11 |
A |
G |
7: 4,779,481 (GRCm39) |
V8A |
probably benign |
Het |
| Il23r |
G |
A |
6: 67,408,635 (GRCm39) |
P402L |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,531,140 (GRCm39) |
N2S |
probably damaging |
Het |
| Lamb1 |
T |
C |
12: 31,348,929 (GRCm39) |
Y606H |
probably benign |
Het |
| Larp4b |
C |
T |
13: 9,220,934 (GRCm39) |
R650C |
probably damaging |
Het |
| Lrpap1 |
T |
C |
5: 35,259,765 (GRCm39) |
E111G |
possibly damaging |
Het |
| Lrrc36 |
T |
A |
8: 106,181,862 (GRCm39) |
S388T |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,267,950 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
T |
G |
2: 14,275,017 (GRCm39) |
D439E |
probably damaging |
Het |
| Notch4 |
A |
T |
17: 34,789,034 (GRCm39) |
E444D |
probably damaging |
Het |
| Nrm |
G |
A |
17: 36,175,082 (GRCm39) |
V137I |
possibly damaging |
Het |
| Nxpe5 |
T |
A |
5: 138,228,795 (GRCm39) |
L4Q |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,977,496 (GRCm39) |
V2052A |
possibly damaging |
Het |
| Oc90 |
A |
T |
15: 65,753,408 (GRCm39) |
Y304N |
probably damaging |
Het |
| Or13f5 |
T |
C |
4: 52,826,138 (GRCm39) |
V247A |
probably damaging |
Het |
| Or52d3 |
T |
A |
7: 104,229,180 (GRCm39) |
F109Y |
possibly damaging |
Het |
| Or5p1 |
T |
C |
7: 107,916,677 (GRCm39) |
V192A |
probably benign |
Het |
| Or8b101 |
T |
C |
9: 38,020,036 (GRCm39) |
I13T |
probably damaging |
Het |
| Or8k1 |
T |
A |
2: 86,047,877 (GRCm39) |
H59L |
possibly damaging |
Het |
| Parp10 |
A |
T |
15: 76,127,281 (GRCm39) |
I52N |
probably benign |
Het |
| Pdgfrb |
C |
A |
18: 61,206,315 (GRCm39) |
R608S |
probably damaging |
Het |
| Pecam1 |
A |
G |
11: 106,590,634 (GRCm39) |
C47R |
probably damaging |
Het |
| Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,392,801 (GRCm39) |
E1712G |
possibly damaging |
Het |
| Plce1 |
T |
C |
19: 38,757,943 (GRCm39) |
I1958T |
probably damaging |
Het |
| Pld5 |
A |
C |
1: 176,102,433 (GRCm39) |
I3S |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,943,385 (GRCm39) |
W1207R |
possibly damaging |
Het |
| Polr2m |
T |
G |
9: 71,391,050 (GRCm39) |
I51L |
possibly damaging |
Het |
| Ppl |
G |
A |
16: 4,922,790 (GRCm39) |
R234C |
probably damaging |
Het |
| Ppp1r42 |
C |
T |
1: 10,069,636 (GRCm39) |
R142H |
probably benign |
Het |
| Prokr1 |
A |
G |
6: 87,558,224 (GRCm39) |
V387A |
probably benign |
Het |
| Prss23 |
A |
T |
7: 89,159,108 (GRCm39) |
Y320* |
probably null |
Het |
| Ptprk |
A |
T |
10: 28,436,050 (GRCm39) |
M804L |
probably damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,710,823 (GRCm39) |
S147G |
probably benign |
Het |
| Rgs7bp |
T |
C |
13: 105,189,532 (GRCm39) |
H89R |
possibly damaging |
Het |
| Rilpl2 |
G |
T |
5: 124,607,875 (GRCm39) |
T115K |
possibly damaging |
Het |
| Rnf212 |
G |
A |
5: 108,877,334 (GRCm39) |
S153F |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,307,455 (GRCm39) |
D705G |
possibly damaging |
Het |
| Selenbp2 |
A |
G |
3: 94,611,426 (GRCm39) |
N379S |
probably benign |
Het |
| Sema3e |
G |
A |
5: 14,276,654 (GRCm39) |
V312M |
probably damaging |
Het |
| Sh2d5 |
T |
A |
4: 137,985,566 (GRCm39) |
L338Q |
probably damaging |
Het |
| Shank3 |
A |
G |
15: 89,384,402 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
G |
T |
18: 76,948,113 (GRCm39) |
G612C |
probably damaging |
Het |
| Slc22a16 |
A |
G |
10: 40,449,636 (GRCm39) |
Y24C |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,688,053 (GRCm39) |
Y312* |
probably null |
Het |
| Slc5a7 |
A |
T |
17: 54,583,827 (GRCm39) |
F488I |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,053,527 (GRCm39) |
D130G |
probably damaging |
Het |
| Sorbs2 |
T |
A |
8: 46,194,652 (GRCm39) |
|
probably benign |
Het |
| Tmem91 |
T |
G |
7: 25,368,803 (GRCm39) |
T161P |
probably damaging |
Het |
| Tpd52l1 |
G |
A |
10: 31,222,697 (GRCm39) |
T99M |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,524,073 (GRCm39) |
*1036Q |
probably null |
Het |
| Tshr |
A |
T |
12: 91,504,564 (GRCm39) |
T501S |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,721,987 (GRCm39) |
N15S |
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,608,127 (GRCm39) |
S669P |
possibly damaging |
Het |
| Zfp970 |
A |
G |
2: 177,167,146 (GRCm39) |
E240G |
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 |
|
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'- GGCAGTGATAGGTCTATGACG -3'
(R):5'- ACAGGTCCATCTCAGGAAGG -3'
Sequencing Primer
(F):5'- CAGTGATAGGTCTATGACGGTGTC -3'
(R):5'- ATCTCAGGAAGGGTCCCAGTG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation