Incidental Mutation 'R9789:Plch2'
| ID |
734511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 155095322 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000126098]
[ENSMUST00000131173]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
silent
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: ENSMUST00000126098
|
| SMART Domains |
Protein: ENSMUSP00000115440
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mai__
|
39 |
58 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131173
|
| SMART Domains |
Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
31 |
111 |
6e-49 |
BLAST |
|
SCOP:d1mai__
|
34 |
111 |
4e-18 |
SMART |
|
| Predicted Effect |
probably benign
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 |
silent
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: ENSMUST00000145662
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
| 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 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,231,357 (GRCm39) |
S1038R |
probably benign |
Het |
| Aar2 |
T |
C |
2: 156,392,745 (GRCm39) |
F45L |
probably damaging |
Het |
| Abcg2 |
A |
G |
6: 58,641,533 (GRCm39) |
Y122C |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,243,427 (GRCm39) |
W1041R |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,873,373 (GRCm39) |
N52S |
probably benign |
Het |
| Asrgl1 |
T |
A |
19: 9,093,974 (GRCm39) |
T185S |
probably damaging |
Het |
| Astl |
T |
A |
2: 127,192,146 (GRCm39) |
S234T |
probably damaging |
Het |
| Atp5mf |
T |
C |
5: 145,120,656 (GRCm39) |
Y87C |
probably damaging |
Het |
| Atxn7l1 |
A |
T |
12: 33,396,062 (GRCm39) |
R264W |
probably damaging |
Het |
| Axin2 |
T |
C |
11: 108,840,180 (GRCm39) |
Y828H |
probably damaging |
Het |
| Bnipl |
T |
C |
3: 95,153,140 (GRCm39) |
D145G |
possibly damaging |
Het |
| C8b |
A |
T |
4: 104,640,191 (GRCm39) |
M165L |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,541,944 (GRCm39) |
L87P |
possibly damaging |
Het |
| Cdk17 |
C |
T |
10: 93,060,891 (GRCm39) |
P232S |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,455,772 (GRCm39) |
E1995G |
probably damaging |
Het |
| Csf2rb2 |
G |
A |
15: 78,169,196 (GRCm39) |
A653V |
probably benign |
Het |
| Cutc |
A |
G |
19: 43,756,699 (GRCm39) |
N264D |
probably benign |
Het |
| Cxcr4 |
C |
T |
1: 128,516,884 (GRCm39) |
W259* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 30,980,104 (GRCm39) |
|
probably null |
Het |
| Dsp |
T |
C |
13: 38,367,937 (GRCm39) |
I652T |
probably benign |
Het |
| Dstyk |
A |
T |
1: 132,381,859 (GRCm39) |
M538L |
probably benign |
Het |
| Eppk1 |
T |
A |
15: 75,993,219 (GRCm39) |
I1221F |
probably benign |
Het |
| Ern2 |
T |
A |
7: 121,769,485 (GRCm39) |
Y847F |
probably damaging |
Het |
| Exosc7 |
T |
A |
9: 122,959,990 (GRCm39) |
V197D |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,024,352 (GRCm39) |
Y441C |
probably damaging |
Het |
| Garem1 |
G |
A |
18: 21,262,985 (GRCm39) |
P610S |
possibly damaging |
Het |
| Garem2 |
T |
A |
5: 30,319,330 (GRCm39) |
V264E |
probably damaging |
Het |
| Gata2 |
G |
A |
6: 88,177,272 (GRCm39) |
G101S |
probably benign |
Het |
| Gcnt4 |
A |
G |
13: 97,083,429 (GRCm39) |
T242A |
probably benign |
Het |
| Ghitm |
A |
C |
14: 36,852,719 (GRCm39) |
Y120* |
probably null |
Het |
| Gimap7 |
A |
G |
6: 48,700,470 (GRCm39) |
S19G |
probably damaging |
Het |
| Gm5475 |
G |
A |
15: 100,324,881 (GRCm39) |
G103E |
unknown |
Het |
| Gstcd |
A |
T |
3: 132,790,357 (GRCm39) |
C137S |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Hfm1 |
T |
C |
5: 107,065,346 (GRCm39) |
D111G |
probably benign |
Het |
| Ighg2b |
A |
G |
12: 113,270,304 (GRCm39) |
I238T |
|
Het |
| Il2ra |
A |
C |
2: 11,685,161 (GRCm39) |
M166L |
probably benign |
Het |
| Itga1 |
A |
T |
13: 115,171,820 (GRCm39) |
L95* |
probably null |
Het |
| Itpr3 |
A |
G |
17: 27,308,915 (GRCm39) |
T373A |
probably benign |
Het |
| Klhl28 |
A |
G |
12: 64,996,871 (GRCm39) |
V490A |
probably damaging |
Het |
| Kntc1 |
A |
T |
5: 123,898,706 (GRCm39) |
N200I |
possibly damaging |
Het |
| L3mbtl4 |
A |
G |
17: 68,766,794 (GRCm39) |
K167R |
probably benign |
Het |
| Lgals1 |
A |
T |
15: 78,813,930 (GRCm39) |
T63S |
probably benign |
Het |
| Lnpep |
C |
A |
17: 17,795,596 (GRCm39) |
C305F |
probably damaging |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mcmbp |
A |
G |
7: 128,311,583 (GRCm39) |
I310T |
possibly damaging |
Het |
| Mical2 |
G |
A |
7: 111,945,996 (GRCm39) |
R986H |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,330 (GRCm39) |
S2759C |
possibly damaging |
Het |
| Myh7 |
A |
G |
14: 55,229,384 (GRCm39) |
V138A |
possibly damaging |
Het |
| Ncr1 |
T |
G |
7: 4,344,300 (GRCm39) |
|
probably null |
Het |
| Ndufa10 |
A |
T |
1: 92,397,610 (GRCm39) |
D145E |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,801,307 (GRCm39) |
|
probably null |
Het |
| Ninl |
A |
T |
2: 150,791,701 (GRCm39) |
S941T |
probably benign |
Het |
| Nrm |
T |
A |
17: 36,172,411 (GRCm39) |
|
probably null |
Het |
| Nup214 |
T |
C |
2: 31,907,227 (GRCm39) |
V1018A |
possibly damaging |
Het |
| Odf1 |
A |
G |
15: 38,219,716 (GRCm39) |
I15V |
probably benign |
Het |
| Or10al2 |
T |
A |
17: 37,983,059 (GRCm39) |
N48K |
probably damaging |
Het |
| Or10j7 |
C |
T |
1: 173,011,458 (GRCm39) |
R181H |
probably benign |
Het |
| Or1e1c |
A |
T |
11: 73,265,710 (GRCm39) |
N48I |
probably damaging |
Het |
| Or4b1d |
T |
A |
2: 89,969,004 (GRCm39) |
T160S |
probably benign |
Het |
| Or52e18 |
A |
T |
7: 104,609,657 (GRCm39) |
I94N |
probably damaging |
Het |
| Or5m10 |
C |
T |
2: 85,717,338 (GRCm39) |
H65Y |
probably damaging |
Het |
| Or5p66 |
A |
T |
7: 107,885,898 (GRCm39) |
V145D |
probably benign |
Het |
| Or7g32 |
C |
A |
9: 19,389,382 (GRCm39) |
D55Y |
probably benign |
Het |
| Osgin2 |
A |
T |
4: 15,998,957 (GRCm39) |
Y222N |
probably damaging |
Het |
| Pcdhga10 |
T |
C |
18: 37,882,363 (GRCm39) |
V708A |
probably benign |
Het |
| Pfn3 |
T |
C |
13: 55,562,900 (GRCm39) |
D27G |
possibly damaging |
Het |
| Plin2 |
C |
A |
4: 86,576,914 (GRCm39) |
Q270H |
probably damaging |
Het |
| Polk |
A |
G |
13: 96,630,403 (GRCm39) |
F386S |
probably damaging |
Het |
| Prkar1a |
G |
A |
11: 109,556,778 (GRCm39) |
G286E |
probably damaging |
Het |
| Prodh |
A |
T |
16: 17,898,049 (GRCm39) |
L276Q |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,513,306 (GRCm39) |
N202S |
probably damaging |
Het |
| Rapgef6 |
C |
A |
11: 54,540,097 (GRCm39) |
T724K |
probably benign |
Het |
| Rnf144a |
T |
A |
12: 26,377,574 (GRCm39) |
K56N |
probably benign |
Het |
| Rpa1 |
T |
A |
11: 75,203,938 (GRCm39) |
K303I |
probably damaging |
Het |
| Slc16a9 |
A |
C |
10: 70,118,340 (GRCm39) |
N220H |
possibly damaging |
Het |
| Slc28a3 |
T |
C |
13: 58,724,664 (GRCm39) |
I197V |
probably benign |
Het |
| Slc35d1 |
A |
T |
4: 103,071,946 (GRCm39) |
F19I |
|
Het |
| Sohlh2 |
A |
T |
3: 55,099,721 (GRCm39) |
E164D |
probably damaging |
Het |
| Sord |
A |
T |
2: 122,093,765 (GRCm39) |
K295* |
probably null |
Het |
| Spata31d1b |
A |
G |
13: 59,860,196 (GRCm39) |
Y23C |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,510,417 (GRCm39) |
Y333N |
probably damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,753 (GRCm39) |
F99L |
probably damaging |
Het |
| Thap12 |
C |
T |
7: 98,352,592 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
A |
T |
10: 80,730,993 (GRCm39) |
T840S |
probably benign |
Het |
| Trim16 |
T |
A |
11: 62,720,026 (GRCm39) |
|
probably null |
Het |
| Ttc16 |
C |
T |
2: 32,664,805 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Unc80 |
A |
T |
1: 66,651,371 (GRCm39) |
Y1572F |
possibly damaging |
Het |
| Usp42 |
G |
T |
5: 143,706,060 (GRCm39) |
A320D |
possibly damaging |
Het |
| Vmn2r94 |
T |
C |
17: 18,464,038 (GRCm39) |
T751A |
probably damaging |
Het |
| Zbtb41 |
C |
T |
1: 139,368,084 (GRCm39) |
L591F |
probably damaging |
Het |
| Zdhhc5 |
T |
A |
2: 84,524,662 (GRCm39) |
E219D |
probably damaging |
Het |
| Zfp248 |
A |
T |
6: 118,406,012 (GRCm39) |
F526I |
probably damaging |
Het |
| Zfp322a |
T |
C |
13: 23,540,558 (GRCm39) |
K395E |
possibly damaging |
Het |
| Zfp423 |
G |
A |
8: 88,506,877 (GRCm39) |
P1156S |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,786,131 (GRCm39) |
T139A |
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 |
|
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 |
|
RF014:Plch2
|
UTSW |
4 |
155,091,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCATCTTGGTGACACTAC -3'
(R):5'- CAGGATTACTGGGCGGATTG -3'
Sequencing Primer
(F):5'- TTGGTGACACTACCACGC -3'
(R):5'- GTGAGGCTTGGCAGCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation