Incidental Mutation 'R7291:Plch2'
| ID |
566401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
045322-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7291 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 155082929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 573
(C573F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: C573F
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: C573F
| 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 |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: C468F
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: C468F
| 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: C573F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: C573F
| 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 damaging
Transcript: ENSMUST00000145662
AA Change: C497F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: C497F
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176194
AA Change: C472F
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: C472F
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9430069I07Rik |
T |
C |
15: 34,355,699 (GRCm39) |
E51G |
possibly damaging |
Het |
| Abca14 |
C |
A |
7: 119,888,832 (GRCm39) |
C1259* |
probably null |
Het |
| Ablim1 |
T |
C |
19: 57,204,340 (GRCm39) |
E17G |
probably benign |
Het |
| Acsf3 |
G |
A |
8: 123,540,316 (GRCm39) |
V505I |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,220,859 (GRCm39) |
M650V |
probably benign |
Het |
| Adamts4 |
G |
A |
1: 171,084,097 (GRCm39) |
V525I |
probably benign |
Het |
| Adh1 |
T |
C |
3: 137,988,569 (GRCm39) |
Y181H |
probably damaging |
Het |
| Alpl |
G |
A |
4: 137,480,009 (GRCm39) |
R168W |
probably damaging |
Het |
| Ate1 |
T |
G |
7: 130,121,661 (GRCm39) |
K11Q |
probably benign |
Het |
| Atpaf1 |
T |
A |
4: 115,668,288 (GRCm39) |
F314L |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,291 (GRCm39) |
D1004V |
probably damaging |
Het |
| Bpifb9a |
C |
T |
2: 154,109,616 (GRCm39) |
T504M |
probably damaging |
Het |
| C1s2 |
T |
A |
6: 124,602,343 (GRCm39) |
I623F |
probably benign |
Het |
| Card11 |
T |
C |
5: 140,886,825 (GRCm39) |
D308G |
probably damaging |
Het |
| Cul9 |
C |
T |
17: 46,851,359 (GRCm39) |
V354I |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 31,020,662 (GRCm39) |
F1236I |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,929,590 (GRCm39) |
I4266F |
possibly damaging |
Het |
| Ear10 |
A |
T |
14: 44,160,377 (GRCm39) |
V150D |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,557,183 (GRCm39) |
A455T |
probably benign |
Het |
| Erp44 |
A |
G |
4: 48,208,792 (GRCm39) |
Y223H |
probably damaging |
Het |
| Fam110b |
T |
A |
4: 5,798,895 (GRCm39) |
H104Q |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,800,817 (GRCm39) |
N1288D |
probably benign |
Het |
| Fcgbpl1 |
A |
C |
7: 27,839,645 (GRCm39) |
D486A |
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,293,088 (GRCm39) |
|
probably null |
Het |
| Fmo2 |
G |
T |
1: 162,715,271 (GRCm39) |
P117Q |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,810,863 (GRCm39) |
K2394R |
possibly damaging |
Het |
| Gab1 |
T |
G |
8: 81,526,780 (GRCm39) |
K106T |
probably damaging |
Het |
| Gatad2b |
T |
C |
3: 90,258,721 (GRCm39) |
V248A |
probably damaging |
Het |
| Gemin6 |
T |
C |
17: 80,535,204 (GRCm39) |
S55P |
possibly damaging |
Het |
| Gfm2 |
G |
A |
13: 97,311,532 (GRCm39) |
V701I |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,061 (GRCm39) |
T106A |
unknown |
Het |
| Gm7356 |
T |
C |
17: 14,221,843 (GRCm39) |
N62S |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,689 (GRCm39) |
T31A |
possibly damaging |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,621 (GRCm39) |
D61V |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,972,122 (GRCm39) |
L716S |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,953,753 (GRCm39) |
Y831H |
probably damaging |
Het |
| Ifi202b |
C |
T |
1: 173,802,381 (GRCm39) |
S151N |
probably benign |
Het |
| Il15ra |
C |
T |
2: 11,723,192 (GRCm39) |
T72I |
probably damaging |
Het |
| Ints1 |
A |
G |
5: 139,750,829 (GRCm39) |
L858P |
probably damaging |
Het |
| Kat2a |
C |
T |
11: 100,601,726 (GRCm39) |
V230I |
possibly damaging |
Het |
| Kcnq2 |
A |
T |
2: 180,730,172 (GRCm39) |
I498N |
possibly damaging |
Het |
| Kif26b |
C |
T |
1: 178,506,611 (GRCm39) |
T229I |
possibly damaging |
Het |
| Ly75 |
T |
A |
2: 60,160,337 (GRCm39) |
I957F |
probably damaging |
Het |
| Map3k12 |
T |
A |
15: 102,410,601 (GRCm39) |
R459W |
probably damaging |
Het |
| Mia2 |
T |
A |
12: 59,205,155 (GRCm39) |
|
probably null |
Het |
| Mrgprf |
A |
G |
7: 144,861,206 (GRCm39) |
I53V |
unknown |
Het |
| Mttp |
A |
G |
3: 137,796,964 (GRCm39) |
L846P |
probably damaging |
Het |
| Myrip |
C |
T |
9: 120,246,207 (GRCm39) |
L112F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,393,597 (GRCm39) |
F1047S |
probably damaging |
Het |
| Nfkbib |
T |
C |
7: 28,458,628 (GRCm39) |
D327G |
possibly damaging |
Het |
| Notch1 |
C |
T |
2: 26,366,387 (GRCm39) |
V776I |
probably benign |
Het |
| Obsl1 |
G |
T |
1: 75,466,161 (GRCm39) |
D1522E |
probably damaging |
Het |
| Or52s6 |
T |
A |
7: 103,091,995 (GRCm39) |
M112L |
probably benign |
Het |
| Or5b110-ps1 |
A |
T |
19: 13,259,517 (GRCm39) |
F302I |
unknown |
Het |
| Or7e168 |
T |
C |
9: 19,719,944 (GRCm39) |
M110T |
possibly damaging |
Het |
| Or9r3 |
T |
C |
10: 129,948,093 (GRCm39) |
K189E |
probably benign |
Het |
| Pde7a |
T |
C |
3: 19,281,838 (GRCm39) |
N471D |
probably benign |
Het |
| Pla2r1 |
T |
C |
2: 60,360,779 (GRCm39) |
H203R |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,918,440 (GRCm39) |
R666Q |
probably benign |
Het |
| Prepl |
T |
C |
17: 85,388,668 (GRCm39) |
N145S |
probably benign |
Het |
| Psen2 |
C |
T |
1: 180,066,521 (GRCm39) |
V139M |
probably benign |
Het |
| Ptgdr |
A |
T |
14: 45,096,649 (GRCm39) |
M21K |
possibly damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,582,065 (GRCm39) |
W1331R |
probably benign |
Het |
| Rp1l1 |
G |
A |
14: 64,269,747 (GRCm39) |
G1778S |
probably benign |
Het |
| Rrbp1 |
A |
T |
2: 143,811,382 (GRCm39) |
M824K |
probably benign |
Het |
| Sel1l |
T |
C |
12: 91,815,739 (GRCm39) |
T23A |
probably benign |
Het |
| Sele |
A |
G |
1: 163,881,437 (GRCm39) |
S515G |
possibly damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,381,822 (GRCm39) |
N421D |
probably damaging |
Het |
| Slc35f3 |
T |
G |
8: 127,121,297 (GRCm39) |
L386R |
probably benign |
Het |
| Stab2 |
G |
A |
10: 86,782,084 (GRCm39) |
S699L |
probably damaging |
Het |
| Synrg |
A |
T |
11: 83,900,207 (GRCm39) |
L726F |
probably damaging |
Het |
| Syt3 |
G |
A |
7: 44,045,343 (GRCm39) |
V528M |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,248,446 (GRCm39) |
I655T |
probably damaging |
Het |
| Tbr1 |
T |
C |
2: 61,642,600 (GRCm39) |
S622P |
probably damaging |
Het |
| Tex36 |
C |
T |
7: 133,188,952 (GRCm39) |
G207S |
probably benign |
Het |
| Trav5n-4 |
G |
A |
14: 53,550,399 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
T |
10: 33,313,732 (GRCm39) |
E500V |
probably null |
Het |
| Ugt2b38 |
A |
T |
5: 87,559,754 (GRCm39) |
N379K |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,876 (GRCm39) |
R248G |
possibly damaging |
Het |
| Vmn1r195 |
C |
T |
13: 22,462,919 (GRCm39) |
L130F |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,794,471 (GRCm39) |
I733V |
probably benign |
Het |
| Zfp870 |
T |
A |
17: 33,102,828 (GRCm39) |
N167I |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,426,503 (GRCm39) |
M179L |
probably benign |
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 |
|
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'- CTGCTCCTCACATCCATAGG -3'
(R):5'- ACAAAGGCCTCCTCCCTATG -3'
Sequencing Primer
(F):5'- TAAGGCTAGCCACCAAGGTCTG -3'
(R):5'- TCCTCCCTATGGCGGCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation