Incidental Mutation 'R2109:Plch2'
| ID |
232353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
040113-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2109 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155069054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1086
(S1086G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030931]
[ENSMUST00000070953]
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000176194]
[ENSMUST00000186598]
[ENSMUST00000139976]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: S1191G
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: S1191G
| 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 |
unknown
Transcript: ENSMUST00000175982
AA Change: S939G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: S1086G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: S1086G
| 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 |
noncoding transcript
Transcript: ENSMUST00000176620
|
| 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 |
|
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410002F23Rik |
G |
T |
7: 43,900,435 (GRCm39) |
R113S |
probably benign |
Het |
| Ackr2 |
A |
T |
9: 121,738,026 (GRCm39) |
I134F |
probably damaging |
Het |
| Actr3b |
T |
A |
5: 26,036,709 (GRCm39) |
I174N |
possibly damaging |
Het |
| Akap9 |
T |
A |
5: 4,094,847 (GRCm39) |
S2214T |
possibly damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,890,768 (GRCm39) |
R986L |
possibly damaging |
Het |
| Brap |
G |
T |
5: 121,801,422 (GRCm39) |
S59I |
possibly damaging |
Het |
| Btnl1 |
C |
T |
17: 34,598,578 (GRCm39) |
H65Y |
probably damaging |
Het |
| C1s2 |
T |
C |
6: 124,612,004 (GRCm39) |
T121A |
probably damaging |
Het |
| Capn1 |
T |
A |
19: 6,064,388 (GRCm39) |
Y37F |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,869,650 (GRCm39) |
K726E |
probably damaging |
Het |
| Cd300lb |
G |
A |
11: 114,816,865 (GRCm39) |
S195F |
probably damaging |
Het |
| Cenpf |
T |
C |
1: 189,411,264 (GRCm39) |
K307E |
probably damaging |
Het |
| Chodl |
A |
C |
16: 78,738,251 (GRCm39) |
N73T |
possibly damaging |
Het |
| Cimip2c |
G |
A |
5: 30,637,851 (GRCm39) |
G66E |
probably damaging |
Het |
| Crnn |
A |
T |
3: 93,055,747 (GRCm39) |
M178L |
probably benign |
Het |
| Cyp4a12b |
A |
G |
4: 115,290,110 (GRCm39) |
D221G |
probably damaging |
Het |
| Dipk2a |
A |
T |
9: 94,406,498 (GRCm39) |
I303N |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,301,097 (GRCm39) |
V2338A |
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,928,411 (GRCm39) |
P2086Q |
probably damaging |
Het |
| Dsg2 |
A |
G |
18: 20,725,346 (GRCm39) |
I486V |
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,524,855 (GRCm39) |
S265P |
probably damaging |
Het |
| Eif1b |
A |
G |
9: 120,323,296 (GRCm39) |
D52G |
probably benign |
Het |
| Etl4 |
A |
T |
2: 20,790,153 (GRCm39) |
T602S |
probably benign |
Het |
| Exoc3l2 |
A |
T |
7: 19,223,059 (GRCm39) |
|
probably benign |
Het |
| Fbxl6 |
C |
A |
15: 76,421,173 (GRCm39) |
V297F |
probably damaging |
Het |
| Fgr |
T |
A |
4: 132,725,786 (GRCm39) |
N398K |
probably benign |
Het |
| G3bp1 |
A |
G |
11: 55,379,986 (GRCm39) |
R107G |
probably damaging |
Het |
| Gp2 |
A |
T |
7: 119,052,155 (GRCm39) |
N186K |
probably benign |
Het |
| Hbs1l |
T |
A |
10: 21,217,831 (GRCm39) |
L249* |
probably null |
Het |
| Hmgcs2 |
T |
A |
3: 98,204,337 (GRCm39) |
L246* |
probably null |
Het |
| Hsp90ab1 |
G |
T |
17: 45,880,254 (GRCm39) |
H96Q |
probably benign |
Het |
| Ibtk |
C |
T |
9: 85,588,603 (GRCm39) |
V1078I |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,212,530 (GRCm39) |
D677G |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,887,405 (GRCm39) |
T3078I |
possibly damaging |
Het |
| Mamdc4 |
A |
G |
2: 25,459,402 (GRCm39) |
F199S |
probably damaging |
Het |
| Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,299,592 (GRCm39) |
T1814I |
probably damaging |
Het |
| Msantd5l |
T |
A |
11: 51,145,264 (GRCm39) |
I108F |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,800,763 (GRCm39) |
F766I |
probably benign |
Het |
| Nbl1 |
T |
A |
4: 138,810,915 (GRCm39) |
|
probably null |
Het |
| Nmrk1 |
T |
A |
19: 18,618,802 (GRCm39) |
L118Q |
probably damaging |
Het |
| Nopchap1 |
C |
T |
10: 83,201,656 (GRCm39) |
S143L |
probably damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,082 (GRCm39) |
L172H |
probably damaging |
Het |
| Or2y11 |
T |
G |
11: 49,443,260 (GRCm39) |
S229A |
probably damaging |
Het |
| Osbpl1a |
T |
G |
18: 12,892,457 (GRCm39) |
Q332P |
probably damaging |
Het |
| Pik3cg |
A |
G |
12: 32,243,709 (GRCm39) |
F921L |
possibly damaging |
Het |
| Plekha5 |
A |
G |
6: 140,369,942 (GRCm39) |
T18A |
possibly damaging |
Het |
| Pogz |
T |
A |
3: 94,786,276 (GRCm39) |
S955T |
probably benign |
Het |
| Pot1b |
A |
T |
17: 55,960,413 (GRCm39) |
I639N |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,505,254 (GRCm39) |
I852T |
probably benign |
Het |
| Prps1l1 |
A |
G |
12: 35,035,521 (GRCm39) |
K212R |
probably benign |
Het |
| Ptpn5 |
A |
G |
7: 46,735,807 (GRCm39) |
Y304H |
probably damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,822,973 (GRCm39) |
I281T |
possibly damaging |
Het |
| Rgs22 |
A |
T |
15: 36,099,880 (GRCm39) |
Y278* |
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,333,489 (GRCm39) |
Y2899* |
probably null |
Het |
| Rttn |
C |
T |
18: 89,004,197 (GRCm39) |
T397I |
possibly damaging |
Het |
| Sacs |
G |
T |
14: 61,410,902 (GRCm39) |
|
probably null |
Het |
| Sbf2 |
G |
T |
7: 110,060,419 (GRCm39) |
Q182K |
probably damaging |
Het |
| Sec14l5 |
C |
T |
16: 4,984,968 (GRCm39) |
R105* |
probably null |
Het |
| Sh2b1 |
A |
T |
7: 126,071,536 (GRCm39) |
D216E |
possibly damaging |
Het |
| Sh3gl3 |
A |
G |
7: 81,920,008 (GRCm39) |
N72S |
possibly damaging |
Het |
| Slc12a1 |
A |
T |
2: 125,015,619 (GRCm39) |
I391F |
probably damaging |
Het |
| Slc36a2 |
G |
A |
11: 55,072,381 (GRCm39) |
A77V |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,474,987 (GRCm39) |
I888L |
probably benign |
Het |
| Smoc1 |
C |
T |
12: 81,197,450 (GRCm39) |
T194M |
probably damaging |
Het |
| Sorcs1 |
C |
T |
19: 50,666,630 (GRCm39) |
G93R |
probably benign |
Het |
| Sox30 |
T |
G |
11: 45,882,595 (GRCm39) |
F542V |
probably damaging |
Het |
| Svep1 |
A |
G |
4: 58,206,030 (GRCm39) |
V116A |
possibly damaging |
Het |
| Synj2 |
A |
G |
17: 6,063,966 (GRCm39) |
D330G |
probably benign |
Het |
| Tenm3 |
A |
C |
8: 48,796,384 (GRCm39) |
S202A |
possibly damaging |
Het |
| Tg |
C |
T |
15: 66,601,443 (GRCm39) |
T151I |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,414,527 (GRCm39) |
E361G |
probably damaging |
Het |
| Tnk1 |
A |
T |
11: 69,746,009 (GRCm39) |
D305E |
probably damaging |
Het |
| Tpp1 |
A |
G |
7: 105,399,177 (GRCm39) |
L133P |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,215,243 (GRCm39) |
M41K |
probably damaging |
Het |
| Tsen54 |
A |
G |
11: 115,706,549 (GRCm39) |
D9G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,804,598 (GRCm39) |
I225F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,457,298 (GRCm39) |
K313R |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,555,379 (GRCm39) |
V425A |
probably damaging |
Het |
| Wbp2 |
A |
T |
11: 115,971,445 (GRCm39) |
Y153* |
probably null |
Het |
| Xrn1 |
A |
G |
9: 95,861,273 (GRCm39) |
S478G |
probably benign |
Het |
| Zfp354c |
T |
C |
11: 50,707,969 (GRCm39) |
E77G |
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,008,496 (GRCm39) |
M154T |
probably benign |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp763 |
G |
T |
17: 33,238,752 (GRCm39) |
A131E |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,711,651 (GRCm39) |
V32E |
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 |
|
|
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 |
|
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'- AAGAGAGACCCCTGGAATGCTC -3'
(R):5'- TCTCTGGGAGCTTTTGGAAC -3'
Sequencing Primer
(F):5'- CTGGAATGCTCTCTCGGCTG -3'
(R):5'- GAACCCTCCAGCTCAGGATTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation