Incidental Mutation 'R6092:Plch2'
| ID |
485977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
044249-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6092 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155068829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1266
(T1266A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101256
(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: T1266A
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: T1266A
| 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: T1161A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: T1161A
| 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 |
unknown
Transcript: ENSMUST00000175982
AA Change: T1014A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176620
|
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
98% (61/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,774,701 (GRCm39) |
P1297S |
probably benign |
Het |
| 4930486L24Rik |
C |
T |
13: 61,001,461 (GRCm39) |
V89M |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,317,786 (GRCm39) |
|
probably null |
Het |
| Abtb1 |
A |
C |
6: 88,815,433 (GRCm39) |
C264G |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Arid1a |
C |
T |
4: 133,421,163 (GRCm39) |
G881R |
unknown |
Het |
| Asb8 |
A |
G |
15: 98,034,123 (GRCm39) |
V144A |
possibly damaging |
Het |
| Atm |
A |
C |
9: 53,435,714 (GRCm39) |
C199G |
probably damaging |
Het |
| Atxn1 |
C |
A |
13: 45,720,288 (GRCm39) |
V536L |
probably benign |
Het |
| Baz1a |
C |
T |
12: 54,955,868 (GRCm39) |
V1074M |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,100,659 (GRCm39) |
D535V |
probably damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,639,380 (GRCm39) |
H145N |
probably damaging |
Het |
| Ccdc24 |
T |
A |
4: 117,729,645 (GRCm39) |
K25* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,437,114 (GRCm39) |
N100S |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 110,026,036 (GRCm39) |
Y424F |
probably benign |
Het |
| Clasp1 |
T |
C |
1: 118,438,028 (GRCm39) |
S612P |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,443,646 (GRCm39) |
M55V |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,892,191 (GRCm39) |
T3661A |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,449,398 (GRCm39) |
D574E |
probably benign |
Het |
| Dnah6 |
C |
T |
6: 73,091,680 (GRCm39) |
V2204M |
possibly damaging |
Het |
| Ercc4 |
A |
T |
16: 12,943,125 (GRCm39) |
H178L |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,076,581 (GRCm39) |
F475L |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,359,959 (GRCm39) |
|
probably null |
Het |
| Gm4131 |
T |
A |
14: 62,718,364 (GRCm39) |
T81S |
possibly damaging |
Het |
| Gprc6a |
A |
G |
10: 51,491,173 (GRCm39) |
S788P |
probably damaging |
Het |
| Hmgxb3 |
C |
A |
18: 61,270,672 (GRCm39) |
G884V |
possibly damaging |
Het |
| Homer1 |
T |
A |
13: 93,502,945 (GRCm39) |
|
probably benign |
Het |
| Iars1 |
T |
C |
13: 49,861,897 (GRCm39) |
S483P |
probably damaging |
Het |
| Kansl1l |
C |
G |
1: 66,812,643 (GRCm39) |
E457Q |
probably damaging |
Het |
| Krtap4-9 |
G |
A |
11: 99,676,481 (GRCm39) |
|
probably benign |
Het |
| Lepr |
C |
A |
4: 101,649,220 (GRCm39) |
P874T |
probably damaging |
Het |
| Mad2l2 |
T |
A |
4: 148,228,067 (GRCm39) |
F100L |
probably damaging |
Het |
| Mavs |
A |
T |
2: 131,087,518 (GRCm39) |
R339* |
probably null |
Het |
| Mettl1 |
G |
A |
10: 126,877,843 (GRCm39) |
|
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,774,031 (GRCm39) |
V493A |
possibly damaging |
Het |
| Mtmr9 |
C |
T |
14: 63,779,901 (GRCm39) |
V63M |
possibly damaging |
Het |
| Mto1 |
T |
C |
9: 78,368,131 (GRCm39) |
I425T |
possibly damaging |
Het |
| Or2av9 |
A |
T |
11: 58,380,900 (GRCm39) |
M227K |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,420,950 (GRCm39) |
Y22C |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Pclo |
C |
T |
5: 14,727,937 (GRCm39) |
|
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,969,533 (GRCm39) |
D608G |
unknown |
Het |
| Prdm12 |
A |
G |
2: 31,533,889 (GRCm39) |
N169D |
probably damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,030,134 (GRCm39) |
Y1186C |
probably damaging |
Het |
| Serpinb3d |
T |
C |
1: 107,006,989 (GRCm39) |
M240V |
probably damaging |
Het |
| Slc25a38 |
C |
T |
9: 119,945,658 (GRCm39) |
R74C |
probably damaging |
Het |
| Slc25a39 |
A |
T |
11: 102,295,719 (GRCm39) |
Y109* |
probably null |
Het |
| Slc26a8 |
T |
C |
17: 28,867,129 (GRCm39) |
N564S |
probably damaging |
Het |
| Spag4 |
G |
A |
2: 155,907,696 (GRCm39) |
|
probably benign |
Het |
| Stx1b |
A |
G |
7: 127,407,035 (GRCm39) |
M74T |
possibly damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,242 (GRCm39) |
D1153G |
probably benign |
Het |
| Tert |
T |
C |
13: 73,776,700 (GRCm39) |
F484L |
probably benign |
Het |
| Tet1 |
A |
G |
10: 62,649,494 (GRCm39) |
V72A |
probably benign |
Het |
| Tnfrsf13c |
T |
C |
15: 82,107,355 (GRCm39) |
T147A |
probably damaging |
Het |
| Trpa1 |
A |
T |
1: 14,959,710 (GRCm39) |
Y659N |
probably damaging |
Het |
| Trpm2 |
A |
G |
10: 77,761,516 (GRCm39) |
F1045L |
probably benign |
Het |
| Ttc13 |
T |
C |
8: 125,405,772 (GRCm39) |
H529R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,545,614 (GRCm39) |
T32570A |
probably damaging |
Het |
| Uba7 |
A |
G |
9: 107,860,359 (GRCm39) |
T892A |
possibly damaging |
Het |
| Uty |
A |
T |
Y: 1,174,836 (GRCm39) |
M195K |
probably benign |
Het |
| Zfp109 |
A |
G |
7: 23,928,978 (GRCm39) |
S152P |
possibly damaging |
Het |
| Zfp532 |
T |
C |
18: 65,777,281 (GRCm39) |
V846A |
probably damaging |
Het |
| Zfp658 |
A |
T |
7: 43,223,951 (GRCm39) |
H742L |
possibly damaging |
Het |
| Zfp831 |
C |
A |
2: 174,547,299 (GRCm39) |
P1494Q |
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 |
|
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'- TGTCAGGTCTCCCAGACTCTTG -3'
(R):5'- ACGGGCACTGACAGGTTATG -3'
Sequencing Primer
(F):5'- GACTCTTGGACTTAGCAGACACTG -3'
(R):5'- ACAGGTTATGGCAGCGGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation