Incidental Mutation 'PIT4445001:Plch2'
| ID |
555387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
Plcl4, A930027K05Rik, PLCeta2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
PIT4445001 (G1)
|
| Quality Score |
130.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154983115-155056784 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155009026 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 153
(R153L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000126098]
[ENSMUST00000131173]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105631
AA Change: R153L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: R153L
| 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: ENSMUST00000126098
|
| SMART Domains |
Protein: ENSMUSP00000115440
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mai__
|
39 |
58 |
2e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131173
AA Change: R70L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055
AA Change: R70L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
31 |
111 |
6e-49 |
BLAST |
|
SCOP:d1mai__
|
34 |
111 |
4e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135665
AA Change: R48L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: R48L
| 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 damaging
Transcript: ENSMUST00000139976
AA Change: R153L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: R153L
| 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 damaging
Transcript: ENSMUST00000145662
AA Change: R77L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: R77L
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
46 |
155 |
1.8e-6 |
SMART |
|
EFh
|
171 |
199 |
7.29e-4 |
SMART |
|
EFh
|
207 |
236 |
4.67e-2 |
SMART |
|
Pfam:EF-hand_like
|
241 |
323 |
5.2e-27 |
PFAM |
|
PLCXc
|
324 |
469 |
6.76e-76 |
SMART |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175982
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: R52L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: R52L
| 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 |
possibly damaging
Transcript: ENSMUST00000186598
AA Change: R70L
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: R70L
| 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: 93.5%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 70.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 110,075,551 (GRCm38) |
K419E |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,509,748 (GRCm38) |
K587N |
possibly damaging |
Het |
| Agl |
T |
C |
3: 116,771,460 (GRCm38) |
M382V |
|
Het |
| Agpat3 |
A |
T |
10: 78,274,093 (GRCm38) |
F341I |
possibly damaging |
Het |
| Ampd2 |
A |
T |
3: 108,075,012 (GRCm38) |
L767Q |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 67,896,235 (GRCm38) |
D124E |
possibly damaging |
Het |
| Arhgap32 |
T |
C |
9: 32,260,856 (GRCm38) |
L1644P |
probably damaging |
Het |
| Asic4 |
T |
C |
1: 75,451,127 (GRCm38) |
V99A |
probably benign |
Het |
| Asns |
T |
A |
6: 7,689,277 (GRCm38) |
N75I |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,803,467 (GRCm38) |
D798G |
probably damaging |
Het |
| Atp8a1 |
A |
G |
5: 67,622,660 (GRCm38) |
V1145A |
|
Het |
| BC017158 |
A |
G |
7: 128,276,534 (GRCm38) |
V243A |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,661,747 (GRCm38) |
Q577R |
probably damaging |
Het |
| Cd247 |
T |
A |
1: 165,861,036 (GRCm38) |
D154E |
probably damaging |
Het |
| Ceacam1 |
A |
T |
7: 25,476,456 (GRCm38) |
N104K |
probably damaging |
Het |
| Chfr |
A |
G |
5: 110,151,677 (GRCm38) |
D312G |
possibly damaging |
Het |
| Ddb1 |
C |
A |
19: 10,625,970 (GRCm38) |
L881I |
probably damaging |
Het |
| Dgkh |
A |
T |
14: 78,575,942 (GRCm38) |
I1032N |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,904,267 (GRCm38) |
V942D |
probably benign |
Het |
| Fmo5 |
A |
G |
3: 97,651,528 (GRCm38) |
T435A |
probably benign |
Het |
| Fpr1 |
T |
C |
17: 17,876,893 (GRCm38) |
Q278R |
probably benign |
Het |
| Fzr1 |
C |
T |
10: 81,369,394 (GRCm38) |
W256* |
probably null |
Het |
| Gabrb1 |
T |
C |
5: 72,108,782 (GRCm38) |
S261P |
probably damaging |
Het |
| Galr2 |
G |
T |
11: 116,281,648 (GRCm38) |
A55S |
probably benign |
Het |
| Gbp2 |
A |
T |
3: 142,637,466 (GRCm38) |
K581N |
probably benign |
Het |
| Gm7682 |
T |
G |
5: 94,448,507 (GRCm38) |
W468G |
probably benign |
Het |
| Gria1 |
A |
T |
11: 57,185,838 (GRCm38) |
Y89F |
probably damaging |
Het |
| Ibsp |
T |
A |
5: 104,302,304 (GRCm38) |
I26N |
possibly damaging |
Het |
| Igf1r |
T |
C |
7: 68,207,463 (GRCm38) |
F1058L |
probably damaging |
Het |
| Ighv1-16 |
A |
C |
12: 114,666,060 (GRCm38) |
C36G |
probably benign |
Het |
| Igll1 |
T |
C |
16: 16,860,919 (GRCm38) |
T176A |
probably benign |
Het |
| Ilkap |
T |
C |
1: 91,385,345 (GRCm38) |
T143A |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,793,115 (GRCm38) |
K103* |
probably null |
Het |
| Mphosph9 |
A |
G |
5: 124,298,790 (GRCm38) |
I497T |
possibly damaging |
Het |
| Mrgpra3 |
G |
A |
7: 47,590,160 (GRCm38) |
T6I |
possibly damaging |
Het |
| Mrpl38 |
T |
C |
11: 116,132,558 (GRCm38) |
|
probably null |
Het |
| Myo3a |
A |
T |
2: 22,542,415 (GRCm38) |
E813V |
possibly damaging |
Het |
| Myo7b |
G |
T |
18: 31,959,466 (GRCm38) |
Q2093K |
possibly damaging |
Het |
| Myo7b |
T |
C |
18: 31,962,352 (GRCm38) |
K1851R |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,984,999 (GRCm38) |
D339V |
probably benign |
Het |
| Pcdhb6 |
C |
A |
18: 37,335,247 (GRCm38) |
P407Q |
possibly damaging |
Het |
| Plppr4 |
G |
A |
3: 117,360,308 (GRCm38) |
|
probably benign |
Het |
| Ppp1r3a |
A |
G |
6: 14,717,777 (GRCm38) |
F1046S |
probably damaging |
Het |
| Prkacb |
A |
T |
3: 146,755,691 (GRCm38) |
L107M |
probably benign |
Het |
| Ranbp17 |
A |
G |
11: 33,481,020 (GRCm38) |
|
probably null |
Het |
| Rasl11b |
C |
A |
5: 74,197,333 (GRCm38) |
P88Q |
probably damaging |
Het |
| Rcc2 |
A |
G |
4: 140,721,149 (GRCm38) |
E503G |
possibly damaging |
Het |
| Rnf216 |
T |
A |
5: 143,086,003 (GRCm38) |
K407N |
probably damaging |
Het |
| Scrn3 |
G |
A |
2: 73,318,329 (GRCm38) |
M81I |
possibly damaging |
Het |
| Scube2 |
T |
C |
7: 109,809,180 (GRCm38) |
T687A |
probably benign |
Het |
| Serpinb10 |
T |
A |
1: 107,535,998 (GRCm38) |
F3L |
probably benign |
Het |
| Sgcb |
C |
T |
5: 73,639,812 (GRCm38) |
V202I |
probably damaging |
Het |
| Sgce |
A |
G |
6: 4,689,654 (GRCm38) |
V429A |
possibly damaging |
Het |
| Sh3rf2 |
T |
C |
18: 42,153,164 (GRCm38) |
V574A |
probably benign |
Het |
| Sncaip |
T |
C |
18: 52,868,944 (GRCm38) |
L179S |
probably damaging |
Het |
| Sntg2 |
A |
T |
12: 30,312,572 (GRCm38) |
D58E |
probably damaging |
Het |
| Taar3 |
T |
C |
10: 23,949,688 (GRCm38) |
I44T |
possibly damaging |
Het |
| Tmem87b |
G |
A |
2: 128,831,471 (GRCm38) |
V227I |
probably benign |
Het |
| Tnfsf9 |
T |
C |
17: 57,105,517 (GRCm38) |
L29P |
possibly damaging |
Het |
| Tnip2 |
T |
C |
5: 34,496,871 (GRCm38) |
H391R |
probably benign |
Het |
| Traf5 |
A |
G |
1: 191,997,807 (GRCm38) |
Y125H |
|
Het |
| Ttc23 |
T |
G |
7: 67,667,213 (GRCm38) |
I77M |
probably damaging |
Het |
| Ube2l3 |
T |
C |
16: 17,160,172 (GRCm38) |
N43S |
probably benign |
Het |
| Vars2 |
A |
T |
17: 35,666,211 (GRCm38) |
C142* |
probably null |
Het |
| Vmn2r15 |
A |
C |
5: 109,287,142 (GRCm38) |
D565E |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,715,226 (GRCm38) |
|
probably null |
Het |
| Vmn2r79 |
A |
T |
7: 87,002,200 (GRCm38) |
D269V |
possibly damaging |
Het |
| Vmn2r85 |
A |
T |
10: 130,425,703 (GRCm38) |
M255K |
probably benign |
Het |
| Wfdc6a |
T |
A |
2: 164,579,826 (GRCm38) |
*137C |
probably null |
Het |
| Wipi2 |
T |
C |
5: 142,666,884 (GRCm38) |
V417A |
probably benign |
Het |
| Xirp2 |
G |
T |
2: 67,509,772 (GRCm38) |
V786L |
possibly damaging |
Het |
| Zdhhc13 |
G |
A |
7: 48,795,949 (GRCm38) |
G26S |
probably benign |
Het |
| Zscan25 |
T |
A |
5: 145,290,612 (GRCm38) |
V362D |
probably damaging |
Het |
|
| Other mutations in Plch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Plch2
|
APN |
4 |
155,006,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02024:Plch2
|
APN |
4 |
155,043,138 (GRCm38) |
intron |
probably benign |
|
|
IGL02580:Plch2
|
APN |
4 |
154,984,764 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03370:Plch2
|
APN |
4 |
154,986,914 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03407:Plch2
|
APN |
4 |
154,989,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tolerant
|
UTSW |
4 |
154,984,635 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4418001:Plch2
|
UTSW |
4 |
154,989,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0117:Plch2
|
UTSW |
4 |
154,985,358 (GRCm38) |
unclassified |
probably benign |
|
|
R0347:Plch2
|
UTSW |
4 |
154,986,721 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0361:Plch2
|
UTSW |
4 |
155,006,711 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0413:Plch2
|
UTSW |
4 |
155,006,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0487:Plch2
|
UTSW |
4 |
155,009,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0514:Plch2
|
UTSW |
4 |
154,998,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0734:Plch2
|
UTSW |
4 |
154,996,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0766:Plch2
|
UTSW |
4 |
154,989,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1306:Plch2
|
UTSW |
4 |
155,007,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1312:Plch2
|
UTSW |
4 |
154,989,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Plch2
|
UTSW |
4 |
154,983,732 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1467:Plch2
|
UTSW |
4 |
154,983,732 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1602:Plch2
|
UTSW |
4 |
154,984,450 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1717:Plch2
|
UTSW |
4 |
154,998,272 (GRCm38) |
missense |
probably benign |
|
|
R1731:Plch2
|
UTSW |
4 |
155,006,994 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1769:Plch2
|
UTSW |
4 |
155,000,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1875:Plch2
|
UTSW |
4 |
154,998,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1974:Plch2
|
UTSW |
4 |
154,984,953 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2031:Plch2
|
UTSW |
4 |
155,043,027 (GRCm38) |
intron |
probably benign |
|
|
R2050:Plch2
|
UTSW |
4 |
155,000,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2061:Plch2
|
UTSW |
4 |
155,042,841 (GRCm38) |
intron |
probably benign |
|
|
R2073:Plch2
|
UTSW |
4 |
154,989,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2075:Plch2
|
UTSW |
4 |
154,989,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2109:Plch2
|
UTSW |
4 |
154,984,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2126:Plch2
|
UTSW |
4 |
154,998,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2265:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2266:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2269:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2280:Plch2
|
UTSW |
4 |
154,984,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2281:Plch2
|
UTSW |
4 |
154,984,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2432:Plch2
|
UTSW |
4 |
154,986,164 (GRCm38) |
makesense |
probably null |
|
|
R2971:Plch2
|
UTSW |
4 |
154,990,767 (GRCm38) |
missense |
probably benign |
0.29 |
|
R3437:Plch2
|
UTSW |
4 |
154,991,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3980:Plch2
|
UTSW |
4 |
154,984,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4757:Plch2
|
UTSW |
4 |
154,996,233 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4827:Plch2
|
UTSW |
4 |
154,991,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4828:Plch2
|
UTSW |
4 |
154,984,635 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4869:Plch2
|
UTSW |
4 |
154,989,428 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5020:Plch2
|
UTSW |
4 |
155,007,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5050:Plch2
|
UTSW |
4 |
155,043,309 (GRCm38) |
intron |
probably benign |
|
|
R5126:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5237:Plch2
|
UTSW |
4 |
155,010,794 (GRCm38) |
missense |
probably benign |
|
|
R5274:Plch2
|
UTSW |
4 |
154,998,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5296:Plch2
|
UTSW |
4 |
154,989,999 (GRCm38) |
splice site |
probably null |
|
|
R5324:Plch2
|
UTSW |
4 |
154,984,534 (GRCm38) |
missense |
probably benign |
|
|
R5475:Plch2
|
UTSW |
4 |
155,000,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5494:Plch2
|
UTSW |
4 |
154,991,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5811:Plch2
|
UTSW |
4 |
154,992,567 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6083:Plch2
|
UTSW |
4 |
155,000,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6092:Plch2
|
UTSW |
4 |
154,984,372 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6253:Plch2
|
UTSW |
4 |
155,007,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6456:Plch2
|
UTSW |
4 |
154,993,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7038:Plch2
|
UTSW |
4 |
154,990,032 (GRCm38) |
splice site |
probably null |
|
|
R7084:Plch2
|
UTSW |
4 |
154,986,991 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7210:Plch2
|
UTSW |
4 |
155,009,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7216:Plch2
|
UTSW |
4 |
154,984,228 (GRCm38) |
missense |
probably benign |
|
|
R7264:Plch2
|
UTSW |
4 |
154,998,967 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7291:Plch2
|
UTSW |
4 |
154,998,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7423:Plch2
|
UTSW |
4 |
154,983,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7436:Plch2
|
UTSW |
4 |
154,984,096 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7438:Plch2
|
UTSW |
4 |
155,000,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7594:Plch2
|
UTSW |
4 |
155,007,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7663:Plch2
|
UTSW |
4 |
154,991,162 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7698:Plch2
|
UTSW |
4 |
155,002,787 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7844:Plch2
|
UTSW |
4 |
154,989,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7939:Plch2
|
UTSW |
4 |
155,002,778 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8003:Plch2
|
UTSW |
4 |
155,054,523 (GRCm38) |
missense |
unknown |
|
|
R8007:Plch2
|
UTSW |
4 |
155,002,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8281:Plch2
|
UTSW |
4 |
155,006,973 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8434:Plch2
|
UTSW |
4 |
154,989,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8504:Plch2
|
UTSW |
4 |
154,984,395 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8516:Plch2
|
UTSW |
4 |
154,986,307 (GRCm38) |
missense |
probably benign |
|
|
R8558:Plch2
|
UTSW |
4 |
154,998,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8722:Plch2
|
UTSW |
4 |
154,985,403 (GRCm38) |
unclassified |
probably benign |
|
|
R8768:Plch2
|
UTSW |
4 |
154,998,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8787:Plch2
|
UTSW |
4 |
154,986,418 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8826:Plch2
|
UTSW |
4 |
154,986,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8955:Plch2
|
UTSW |
4 |
154,992,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9032:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9085:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9423:Plch2
|
UTSW |
4 |
154,986,592 (GRCm38) |
missense |
|
|
|
R9649:Plch2
|
UTSW |
4 |
154,984,059 (GRCm38) |
missense |
probably benign |
|
|
R9652:Plch2
|
UTSW |
4 |
154,998,485 (GRCm38) |
missense |
probably benign |
|
|
R9725:Plch2
|
UTSW |
4 |
155,000,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9742:Plch2
|
UTSW |
4 |
154,998,455 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9789:Plch2
|
UTSW |
4 |
155,010,865 (GRCm38) |
critical splice donor site |
probably null |
|
|
RF014:Plch2
|
UTSW |
4 |
155,007,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCCAGAGCTCACTGCAG -3'
(R):5'- TGAAATTACCAGGGCTCTCATAG -3'
Sequencing Primer
(F):5'- TTCCAGAGCTCACTGCAGAAACC -3'
(R):5'- ATAGCTTCTGTCTATCTGTCTGTCTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation