Incidental Mutation 'R2073:Plch2'
| ID |
227319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
040078-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2073 (G1)
|
| Quality Score |
101 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155074366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 754
(L754Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: L859Q
PolyPhen 2
Score 0.694 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: L859Q
| 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: 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 |
probably damaging
Transcript: ENSMUST00000135665
AA Change: L754Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: L754Q
| 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: L859Q
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: L859Q
| 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: L607Q
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: L758Q
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: L758Q
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
C |
7: 130,959,242 (GRCm39) |
R153G |
probably benign |
Het |
| 5730596B20Rik |
C |
A |
6: 52,155,962 (GRCm39) |
Y9* |
probably null |
Het |
| Aco1 |
G |
A |
4: 40,183,605 (GRCm39) |
G508S |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,100,230 (GRCm39) |
H2R |
possibly damaging |
Het |
| Adamts13 |
T |
A |
2: 26,896,326 (GRCm39) |
C1240S |
probably damaging |
Het |
| Adra1b |
T |
C |
11: 43,726,698 (GRCm39) |
N73S |
probably damaging |
Het |
| Aebp2 |
G |
A |
6: 140,579,420 (GRCm39) |
S219N |
probably benign |
Het |
| Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
| Ank |
T |
C |
15: 27,565,108 (GRCm39) |
S270P |
probably benign |
Het |
| Ankle1 |
G |
A |
8: 71,861,973 (GRCm39) |
R492H |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,599,713 (GRCm39) |
H19Y |
possibly damaging |
Het |
| Anln |
C |
A |
9: 22,244,464 (GRCm39) |
W1083L |
probably benign |
Het |
| Apaf1 |
G |
T |
10: 90,867,556 (GRCm39) |
S763* |
probably null |
Het |
| Apba3 |
A |
G |
10: 81,105,128 (GRCm39) |
T134A |
probably benign |
Het |
| Armh3 |
A |
T |
19: 45,953,820 (GRCm39) |
I188K |
probably damaging |
Het |
| Bod1l |
C |
T |
5: 41,976,532 (GRCm39) |
S1594N |
probably benign |
Het |
| C7 |
T |
C |
15: 5,019,910 (GRCm39) |
M746V |
probably benign |
Het |
| Cdkn2a |
T |
A |
4: 89,212,730 (GRCm39) |
I11F |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,992,617 (GRCm39) |
M100V |
possibly damaging |
Het |
| Cntnap5c |
T |
C |
17: 58,612,547 (GRCm39) |
L862P |
possibly damaging |
Het |
| Coch |
A |
T |
12: 51,649,472 (GRCm39) |
D261V |
probably benign |
Het |
| Cyp2ab1 |
A |
G |
16: 20,132,639 (GRCm39) |
F220L |
possibly damaging |
Het |
| Ddx10 |
A |
T |
9: 53,151,805 (GRCm39) |
D73E |
probably benign |
Het |
| Dgkg |
A |
G |
16: 22,384,067 (GRCm39) |
F462S |
probably damaging |
Het |
| Dlgap3 |
C |
T |
4: 127,089,159 (GRCm39) |
H252Y |
probably damaging |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,077 (GRCm39) |
S20G |
probably benign |
Het |
| Dnai4 |
G |
A |
4: 102,907,390 (GRCm39) |
T632M |
probably damaging |
Het |
| Dtnb |
A |
G |
12: 3,831,273 (GRCm39) |
T658A |
probably benign |
Het |
| Duox2 |
T |
A |
2: 122,125,639 (GRCm39) |
S323C |
probably damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,581,026 (GRCm39) |
I251N |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,768,705 (GRCm39) |
S1457P |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,153,247 (GRCm39) |
|
probably null |
Het |
| Fcho1 |
A |
T |
8: 72,163,133 (GRCm39) |
L632Q |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,612,182 (GRCm39) |
Y527C |
possibly damaging |
Het |
| Gm16223 |
T |
C |
5: 42,371,942 (GRCm39) |
C111R |
unknown |
Het |
| H2-Q4 |
T |
A |
17: 35,599,378 (GRCm39) |
S154T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,409,687 (GRCm39) |
F125L |
possibly damaging |
Het |
| Ier5l |
T |
A |
2: 30,363,068 (GRCm39) |
D319V |
probably damaging |
Het |
| Kif5a |
T |
C |
10: 127,081,238 (GRCm39) |
D232G |
probably damaging |
Het |
| M1ap |
A |
G |
6: 82,958,863 (GRCm39) |
I165V |
probably benign |
Het |
| Map2k4 |
A |
C |
11: 65,584,282 (GRCm39) |
F334V |
probably damaging |
Het |
| Mmp19 |
G |
A |
10: 128,630,848 (GRCm39) |
R156H |
probably damaging |
Het |
| Mpped2 |
T |
A |
2: 106,575,147 (GRCm39) |
Y77* |
probably null |
Het |
| Nhs |
T |
A |
X: 160,625,717 (GRCm39) |
H544L |
probably damaging |
Het |
| Nr4a1 |
C |
A |
15: 101,171,948 (GRCm39) |
H541N |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,822 (GRCm39) |
V208A |
probably benign |
Het |
| Or5b122 |
A |
T |
19: 13,562,965 (GRCm39) |
Q99L |
probably damaging |
Het |
| Pak6 |
A |
C |
2: 118,519,332 (GRCm39) |
N17T |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,216,214 (GRCm39) |
T2225S |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,385,905 (GRCm39) |
L955P |
probably damaging |
Het |
| Phf21a |
A |
G |
2: 92,178,381 (GRCm39) |
D357G |
probably damaging |
Het |
| Pkhd1l1 |
G |
T |
15: 44,422,035 (GRCm39) |
A3102S |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,066 (GRCm39) |
N335D |
probably benign |
Het |
| Pole |
C |
A |
5: 110,473,417 (GRCm39) |
T1737N |
probably damaging |
Het |
| Potefam1 |
T |
C |
2: 111,030,763 (GRCm39) |
E382G |
probably damaging |
Het |
| Pramel6 |
G |
A |
2: 87,339,088 (GRCm39) |
S96N |
probably damaging |
Het |
| Prdm14 |
A |
C |
1: 13,195,954 (GRCm39) |
Y36D |
possibly damaging |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Rfc1 |
A |
T |
5: 65,459,282 (GRCm39) |
D225E |
probably damaging |
Het |
| Sec16a |
A |
G |
2: 26,330,251 (GRCm39) |
I588T |
probably damaging |
Het |
| Setd6 |
G |
A |
8: 96,443,416 (GRCm39) |
V60M |
probably damaging |
Het |
| Sgk3 |
A |
G |
1: 9,961,649 (GRCm39) |
I432V |
probably benign |
Het |
| Six2 |
A |
G |
17: 85,994,933 (GRCm39) |
S150P |
probably damaging |
Het |
| Slc1a6 |
T |
C |
10: 78,635,964 (GRCm39) |
V343A |
possibly damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,774,956 (GRCm39) |
|
probably null |
Het |
| Smc3 |
A |
G |
19: 53,619,964 (GRCm39) |
D620G |
probably benign |
Het |
| Smg6 |
C |
G |
11: 74,821,120 (GRCm39) |
P464A |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,392,278 (GRCm39) |
T44A |
possibly damaging |
Het |
| Spata22 |
A |
G |
11: 73,227,052 (GRCm39) |
R89G |
possibly damaging |
Het |
| Spmip6 |
A |
G |
4: 41,507,519 (GRCm39) |
|
probably null |
Het |
| Stk3 |
T |
C |
15: 34,959,195 (GRCm39) |
M256V |
possibly damaging |
Het |
| Syne2 |
A |
G |
12: 76,062,353 (GRCm39) |
D4226G |
possibly damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,934,863 (GRCm39) |
S1370P |
possibly damaging |
Het |
| Tek |
A |
G |
4: 94,715,966 (GRCm39) |
I463V |
probably benign |
Het |
| Trib1 |
T |
A |
15: 59,526,189 (GRCm39) |
I253N |
probably damaging |
Het |
| Triobp |
G |
T |
15: 78,858,095 (GRCm39) |
G1232V |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,853,406 (GRCm39) |
V1809M |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,749 (GRCm39) |
K57E |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,784,974 (GRCm39) |
K15N |
probably benign |
Het |
| Wnt9a |
A |
G |
11: 59,222,055 (GRCm39) |
N318D |
probably damaging |
Het |
| Wwp1 |
A |
G |
4: 19,662,181 (GRCm39) |
V138A |
possibly damaging |
Het |
| Zfp37 |
A |
T |
4: 62,109,945 (GRCm39) |
M411K |
probably damaging |
Het |
| Zfp715 |
T |
A |
7: 42,960,544 (GRCm39) |
T16S |
probably benign |
Het |
| Zfp932 |
A |
G |
5: 110,157,684 (GRCm39) |
T461A |
possibly damaging |
Het |
| Zscan29 |
A |
T |
2: 120,991,336 (GRCm39) |
C817* |
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 |
|
|
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'- TGAAGCCCTCACCCACTTTG -3'
(R):5'- CAAAGCTTTCTGACCCTTCCCTAAG -3'
Sequencing Primer
(F):5'- TCACCCACTTTGGCGGGAG -3'
(R):5'- CCTAAGGCTCTTTTTCACCAGAG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation