Incidental Mutation 'PIT4445001:Plch2'
ID |
555387 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plch2
|
Ensembl Gene |
ENSMUSG00000029055 |
Gene Name |
phospholipase C, eta 2 |
Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4445001 (G1)
|
Quality Score |
130.008 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 155093483 bp (GRCm39)
|
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: 109,966,377 (GRCm39) |
K419E |
probably damaging |
Het |
Adam7 |
T |
A |
14: 68,747,197 (GRCm39) |
K587N |
possibly damaging |
Het |
Agl |
T |
C |
3: 116,565,109 (GRCm39) |
M382V |
|
Het |
Agpat3 |
A |
T |
10: 78,109,927 (GRCm39) |
F341I |
possibly damaging |
Het |
Ampd2 |
A |
T |
3: 107,982,328 (GRCm39) |
L767Q |
probably damaging |
Het |
Arhgap28 |
A |
T |
17: 68,203,230 (GRCm39) |
D124E |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,172,152 (GRCm39) |
L1644P |
probably damaging |
Het |
Asic4 |
T |
C |
1: 75,427,771 (GRCm39) |
V99A |
probably benign |
Het |
Asns |
T |
A |
6: 7,689,277 (GRCm39) |
N75I |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,453,215 (GRCm39) |
D798G |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,780,003 (GRCm39) |
V1145A |
|
Het |
Ccdc171 |
A |
G |
4: 83,579,984 (GRCm39) |
Q577R |
probably damaging |
Het |
Cd247 |
T |
A |
1: 165,688,605 (GRCm39) |
D154E |
probably damaging |
Het |
Ceacam1 |
A |
T |
7: 25,175,881 (GRCm39) |
N104K |
probably damaging |
Het |
Chfr |
A |
G |
5: 110,299,543 (GRCm39) |
D312G |
possibly damaging |
Het |
Ddb1 |
C |
A |
19: 10,603,334 (GRCm39) |
L881I |
probably damaging |
Het |
Dgkh |
A |
T |
14: 78,813,382 (GRCm39) |
I1032N |
possibly damaging |
Het |
Efcab6 |
A |
T |
15: 83,788,468 (GRCm39) |
V942D |
probably benign |
Het |
Fmo5 |
A |
G |
3: 97,558,844 (GRCm39) |
T435A |
probably benign |
Het |
Fpr1 |
T |
C |
17: 18,097,155 (GRCm39) |
Q278R |
probably benign |
Het |
Fzr1 |
C |
T |
10: 81,205,228 (GRCm39) |
W256* |
probably null |
Het |
Gabrb1 |
T |
C |
5: 72,266,125 (GRCm39) |
S261P |
probably damaging |
Het |
Galr2 |
G |
T |
11: 116,172,474 (GRCm39) |
A55S |
probably benign |
Het |
Gbp2 |
A |
T |
3: 142,343,227 (GRCm39) |
K581N |
probably benign |
Het |
Gria1 |
A |
T |
11: 57,076,664 (GRCm39) |
Y89F |
probably damaging |
Het |
Ibsp |
T |
A |
5: 104,450,170 (GRCm39) |
I26N |
possibly damaging |
Het |
Igf1r |
T |
C |
7: 67,857,211 (GRCm39) |
F1058L |
probably damaging |
Het |
Ighv1-16 |
A |
C |
12: 114,629,680 (GRCm39) |
C36G |
probably benign |
Het |
Igll1 |
T |
C |
16: 16,678,783 (GRCm39) |
T176A |
probably benign |
Het |
Ilkap |
T |
C |
1: 91,313,067 (GRCm39) |
T143A |
probably benign |
Het |
Kdm3b |
A |
T |
18: 34,926,168 (GRCm39) |
K103* |
probably null |
Het |
Mphosph9 |
A |
G |
5: 124,436,853 (GRCm39) |
I497T |
possibly damaging |
Het |
Mrgpra3 |
G |
A |
7: 47,239,908 (GRCm39) |
T6I |
possibly damaging |
Het |
Mrpl38 |
T |
C |
11: 116,023,384 (GRCm39) |
|
probably null |
Het |
Myo3a |
A |
T |
2: 22,434,457 (GRCm39) |
E813V |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,095,405 (GRCm39) |
K1851R |
probably damaging |
Het |
Myo7b |
G |
T |
18: 32,092,519 (GRCm39) |
Q2093K |
possibly damaging |
Het |
P3h2 |
T |
A |
16: 25,803,749 (GRCm39) |
D339V |
probably benign |
Het |
Pcdhb6 |
C |
A |
18: 37,468,300 (GRCm39) |
P407Q |
possibly damaging |
Het |
Plppr4 |
G |
A |
3: 117,153,957 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
G |
6: 14,717,776 (GRCm39) |
F1046S |
probably damaging |
Het |
Pramel41 |
T |
G |
5: 94,596,366 (GRCm39) |
W468G |
probably benign |
Het |
Prkacb |
A |
T |
3: 146,461,446 (GRCm39) |
L107M |
probably benign |
Het |
Ranbp17 |
A |
G |
11: 33,431,020 (GRCm39) |
|
probably null |
Het |
Rasl11b |
C |
A |
5: 74,357,994 (GRCm39) |
P88Q |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,448,460 (GRCm39) |
E503G |
possibly damaging |
Het |
Rnf216 |
T |
A |
5: 143,071,758 (GRCm39) |
K407N |
probably damaging |
Het |
Rusf1 |
A |
G |
7: 127,875,706 (GRCm39) |
V243A |
probably benign |
Het |
Scrn3 |
G |
A |
2: 73,148,673 (GRCm39) |
M81I |
possibly damaging |
Het |
Scube2 |
T |
C |
7: 109,408,387 (GRCm39) |
T687A |
probably benign |
Het |
Serpinb10 |
T |
A |
1: 107,463,728 (GRCm39) |
F3L |
probably benign |
Het |
Sgcb |
C |
T |
5: 73,797,155 (GRCm39) |
V202I |
probably damaging |
Het |
Sgce |
A |
G |
6: 4,689,654 (GRCm39) |
V429A |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,286,229 (GRCm39) |
V574A |
probably benign |
Het |
Sncaip |
T |
C |
18: 53,002,016 (GRCm39) |
L179S |
probably damaging |
Het |
Sntg2 |
A |
T |
12: 30,362,571 (GRCm39) |
D58E |
probably damaging |
Het |
Taar3 |
T |
C |
10: 23,825,586 (GRCm39) |
I44T |
possibly damaging |
Het |
Tmem87b |
G |
A |
2: 128,673,391 (GRCm39) |
V227I |
probably benign |
Het |
Tnfsf9 |
T |
C |
17: 57,412,517 (GRCm39) |
L29P |
possibly damaging |
Het |
Tnip2 |
T |
C |
5: 34,654,215 (GRCm39) |
H391R |
probably benign |
Het |
Traf5 |
A |
G |
1: 191,729,768 (GRCm39) |
Y125H |
|
Het |
Ttc23 |
T |
G |
7: 67,316,961 (GRCm39) |
I77M |
probably damaging |
Het |
Ube2l3 |
T |
C |
16: 16,978,036 (GRCm39) |
N43S |
probably benign |
Het |
Vars2 |
A |
T |
17: 35,977,103 (GRCm39) |
C142* |
probably null |
Het |
Vmn2r15 |
A |
C |
5: 109,435,008 (GRCm39) |
D565E |
probably damaging |
Het |
Vmn2r56 |
C |
T |
7: 12,449,153 (GRCm39) |
|
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,408 (GRCm39) |
D269V |
possibly damaging |
Het |
Vmn2r85 |
A |
T |
10: 130,261,572 (GRCm39) |
M255K |
probably benign |
Het |
Wfdc6a |
T |
A |
2: 164,421,746 (GRCm39) |
*137C |
probably null |
Het |
Wipi2 |
T |
C |
5: 142,652,639 (GRCm39) |
V417A |
probably benign |
Het |
Xirp2 |
G |
T |
2: 67,340,116 (GRCm39) |
V786L |
possibly damaging |
Het |
Zdhhc13 |
G |
A |
7: 48,445,697 (GRCm39) |
G26S |
probably benign |
Het |
Zscan25 |
T |
A |
5: 145,227,422 (GRCm39) |
V362D |
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 |
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 |
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'- TGTTCCAGAGCTCACTGCAG -3'
(R):5'- TGAAATTACCAGGGCTCTCATAG -3'
Sequencing Primer
(F):5'- TTCCAGAGCTCACTGCAGAAACC -3'
(R):5'- ATAGCTTCTGTCTATCTGTCTGTCTG -3'
|
Posted On |
2019-06-07 |