Incidental Mutation 'R0347:Plch2'
| ID |
38438 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
038554-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0347 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155071178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1067
(R1067L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101256
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: R1067L
PolyPhen 2
Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: R1067L
| 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 |
unknown
Transcript: ENSMUST00000124517
AA Change: R195L
|
| SMART Domains |
Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055
AA Change: R195L
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127661
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: R962L
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: R962L
| 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 |
possibly damaging
Transcript: ENSMUST00000139976
AA Change: R1067L
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: R1067L
| 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 |
unknown
Transcript: ENSMUST00000175982
AA Change: R815L
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176194
AA Change: R966L
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: R966L
| 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: R308L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: R308L
| 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 |
noncoding transcript
Transcript: ENSMUST00000176620
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
| Validation Efficiency |
100% (78/78) |
| 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 |
|---|
| Abca4 |
A |
G |
3: 121,913,748 (GRCm39) |
E908G |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,928,986 (GRCm39) |
|
probably benign |
Het |
| Adhfe1 |
T |
A |
1: 9,623,655 (GRCm39) |
F102Y |
probably benign |
Het |
| Aff4 |
A |
G |
11: 53,290,915 (GRCm39) |
Y625C |
probably benign |
Het |
| Alox5 |
T |
C |
6: 116,390,513 (GRCm39) |
E488G |
possibly damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,753 (GRCm39) |
C323R |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,423,979 (GRCm39) |
*1084R |
probably null |
Het |
| Apol10a |
A |
T |
15: 77,372,891 (GRCm39) |
I176F |
probably damaging |
Het |
| Arhgap26 |
C |
T |
18: 38,750,797 (GRCm39) |
T70I |
unknown |
Het |
| Arid2 |
A |
G |
15: 96,268,833 (GRCm39) |
N982S |
probably benign |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,029 (GRCm39) |
D291G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cdc20b |
G |
T |
13: 113,196,361 (GRCm39) |
G162V |
probably damaging |
Het |
| Cep44 |
T |
G |
8: 56,998,510 (GRCm39) |
E56A |
probably damaging |
Het |
| Cfap410 |
A |
T |
10: 77,820,256 (GRCm39) |
I209F |
probably damaging |
Het |
| Cfap65 |
A |
G |
1: 74,965,603 (GRCm39) |
L469P |
probably damaging |
Het |
| Cilp |
T |
A |
9: 65,187,435 (GRCm39) |
C1177S |
probably benign |
Het |
| Ctnnbip1 |
C |
T |
4: 149,630,211 (GRCm39) |
P7S |
probably damaging |
Het |
| Cyp11a1 |
T |
C |
9: 57,923,543 (GRCm39) |
|
probably benign |
Het |
| Cyp3a11 |
C |
T |
5: 145,802,735 (GRCm39) |
V253M |
possibly damaging |
Het |
| D630045J12Rik |
C |
A |
6: 38,158,327 (GRCm39) |
V1117L |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,280,104 (GRCm39) |
S2678T |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,365,596 (GRCm39) |
I428T |
probably damaging |
Het |
| Fam83f |
A |
G |
15: 80,556,458 (GRCm39) |
D114G |
probably damaging |
Het |
| Flt3 |
T |
A |
5: 147,294,802 (GRCm39) |
N423I |
probably damaging |
Het |
| Fnbp1l |
A |
T |
3: 122,383,824 (GRCm39) |
F31L |
probably damaging |
Het |
| Glrx3 |
G |
A |
7: 137,039,430 (GRCm39) |
E10K |
unknown |
Het |
| Gm12185 |
T |
C |
11: 48,806,009 (GRCm39) |
E394G |
probably benign |
Het |
| Gpatch1 |
C |
T |
7: 34,997,056 (GRCm39) |
V381M |
probably benign |
Het |
| Grm8 |
T |
C |
6: 27,981,221 (GRCm39) |
S230G |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,127,733 (GRCm39) |
D25V |
probably benign |
Het |
| Junb |
G |
A |
8: 85,705,107 (GRCm39) |
|
probably benign |
Het |
| Klhl29 |
C |
A |
12: 5,134,354 (GRCm39) |
V747F |
probably damaging |
Het |
| Krt77 |
T |
C |
15: 101,768,304 (GRCm39) |
H569R |
unknown |
Het |
| Ldhb |
T |
C |
6: 142,439,859 (GRCm39) |
N227S |
probably benign |
Het |
| Megf6 |
A |
G |
4: 154,339,092 (GRCm39) |
D543G |
possibly damaging |
Het |
| Mrps23 |
A |
T |
11: 88,101,519 (GRCm39) |
Q136L |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,076,130 (GRCm39) |
|
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,084,287 (GRCm39) |
D133E |
probably benign |
Het |
| Neurod4 |
G |
A |
10: 130,106,980 (GRCm39) |
T98I |
probably damaging |
Het |
| Nfatc2 |
G |
T |
2: 168,378,210 (GRCm39) |
T465K |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,380,216 (GRCm39) |
S859P |
probably benign |
Het |
| Nipsnap3a |
T |
C |
4: 52,997,155 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,415 (GRCm39) |
K439E |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,847,797 (GRCm39) |
L261H |
probably damaging |
Het |
| Or1e32 |
C |
T |
11: 73,705,137 (GRCm39) |
G257D |
probably damaging |
Het |
| Or2a20 |
T |
C |
6: 43,194,296 (GRCm39) |
F150L |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,659,892 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
T |
7: 3,825,873 (GRCm39) |
V332E |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,660,737 (GRCm39) |
M282T |
probably damaging |
Het |
| Polr1has |
T |
A |
17: 37,276,207 (GRCm39) |
M114K |
probably damaging |
Het |
| Pou2f2 |
A |
C |
7: 24,797,126 (GRCm39) |
F206V |
probably damaging |
Het |
| Prss50 |
A |
G |
9: 110,691,418 (GRCm39) |
I49V |
probably damaging |
Het |
| Rexo5 |
T |
A |
7: 119,423,119 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,151,712 (GRCm39) |
T252I |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,268,253 (GRCm39) |
K1280* |
probably null |
Het |
| Rpl24 |
T |
A |
16: 55,790,540 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
A |
17: 52,046,934 (GRCm39) |
K763* |
probably null |
Het |
| Scart2 |
T |
A |
7: 139,877,767 (GRCm39) |
H800Q |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,424,196 (GRCm39) |
R237S |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,927,850 (GRCm39) |
T645A |
probably damaging |
Het |
| Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,673,335 (GRCm39) |
V1480A |
probably benign |
Het |
| Tbc1d2 |
T |
C |
4: 46,620,574 (GRCm39) |
D412G |
possibly damaging |
Het |
| Tecrl |
T |
C |
5: 83,442,479 (GRCm39) |
E198G |
probably damaging |
Het |
| Tigd4 |
A |
G |
3: 84,501,167 (GRCm39) |
D28G |
probably damaging |
Het |
| Trp53bp2 |
T |
G |
1: 182,269,213 (GRCm39) |
L226V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,910,253 (GRCm39) |
S799P |
possibly damaging |
Het |
| Vps13c |
A |
T |
9: 67,817,515 (GRCm39) |
Q1062H |
possibly damaging |
Het |
| Wnt10a |
T |
G |
1: 74,832,702 (GRCm39) |
H98Q |
probably damaging |
Het |
| Zbtb47 |
C |
T |
9: 121,592,168 (GRCm39) |
P198S |
probably damaging |
Het |
| Zfp959 |
T |
A |
17: 56,204,180 (GRCm39) |
Y69* |
probably null |
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 |
|
|
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'- TTGAAGGCCCTCAACGTCCATACC -3'
(R):5'- CGCTTGAAGCTTGAAGCCACAC -3'
Sequencing Primer
(F):5'- CCATACCGGCGCAGGAG -3'
(R):5'- CAGACTCTGGGTCTAAAAGGTCTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation