Incidental Mutation 'R1769:Plch2'
| ID |
194679 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
039800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155084540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 379
(Y379C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105631
AA Change: Y480C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: Y480C
| 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: ENSMUST00000127661
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135665
AA Change: Y375C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: Y375C
| 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: Y480C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: Y480C
| 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: Y404C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: Y404C
| 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 |
unknown
Transcript: ENSMUST00000175982
AA Change: Y264C
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: Y379C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: Y379C
| 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 |
|
| Meta Mutation Damage Score |
0.7385 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,644,519 (GRCm39) |
I135V |
probably benign |
Het |
| Abca1 |
T |
A |
4: 53,074,325 (GRCm39) |
K1119N |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,573,194 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,809 (GRCm39) |
E476G |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,740 (GRCm39) |
F271S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,586 (GRCm39) |
V847A |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,859,883 (GRCm39) |
N381S |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,907,520 (GRCm39) |
L871Q |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,715,795 (GRCm39) |
H104Q |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,568 (GRCm39) |
M165V |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,843,618 (GRCm39) |
M431K |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 109,980,606 (GRCm39) |
T178I |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,301 (GRCm39) |
T348I |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,125 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
A |
T |
4: 148,098,758 (GRCm39) |
|
probably null |
Het |
| Csf3 |
A |
G |
11: 98,593,246 (GRCm39) |
Y121C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,505 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,864,815 (GRCm39) |
I221T |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,675,115 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,250 (GRCm39) |
F474S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,032,839 (GRCm39) |
I399V |
probably null |
Het |
| Efcab14 |
T |
A |
4: 115,610,188 (GRCm39) |
L183Q |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,489,501 (GRCm39) |
V88A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,109 (GRCm39) |
N730S |
probably benign |
Het |
| Farsb |
T |
A |
1: 78,443,620 (GRCm39) |
K196I |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,735,682 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
A |
G |
3: 84,356,085 (GRCm39) |
F453S |
probably damaging |
Het |
| Gast |
T |
A |
11: 100,227,684 (GRCm39) |
W89R |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,237 (GRCm39) |
S402G |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,720,162 (GRCm39) |
S386T |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,363 (GRCm39) |
E1870G |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,954,768 (GRCm39) |
V1028E |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Ifi209 |
G |
A |
1: 173,468,728 (GRCm39) |
S186N |
probably benign |
Het |
| Ifih1 |
C |
T |
2: 62,436,738 (GRCm39) |
A562T |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,014,481 (GRCm39) |
L106S |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,050 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,199,234 (GRCm39) |
S141G |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra3 |
T |
C |
6: 130,307,226 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 27,084,402 (GRCm39) |
S923T |
probably damaging |
Het |
| Lama2 |
G |
C |
10: 27,084,403 (GRCm39) |
F922L |
probably benign |
Het |
| Llgl1 |
G |
A |
11: 60,597,873 (GRCm39) |
V331M |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,676 (GRCm39) |
*301W |
probably null |
Het |
| Map1lc3b |
C |
T |
8: 122,320,226 (GRCm39) |
|
probably benign |
Het |
| Mbd2 |
A |
G |
18: 70,749,690 (GRCm39) |
I302V |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,390,307 (GRCm39) |
Y78C |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,996,771 (GRCm39) |
|
probably null |
Het |
| Mideas |
G |
A |
12: 84,205,124 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 151,993,191 (GRCm39) |
E346G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,957,363 (GRCm39) |
S131P |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,069,527 (GRCm39) |
H899R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,556 (GRCm39) |
|
probably benign |
Het |
| Ngf |
T |
A |
3: 102,427,513 (GRCm39) |
N87K |
possibly damaging |
Het |
| Nol10 |
T |
A |
12: 17,466,709 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,385,231 (GRCm39) |
I221V |
probably benign |
Het |
| Nup205 |
G |
A |
6: 35,182,366 (GRCm39) |
G777D |
probably damaging |
Het |
| Or5ac17 |
A |
G |
16: 59,036,344 (GRCm39) |
F211L |
probably benign |
Het |
| Or5b96 |
A |
G |
19: 12,867,047 (GRCm39) |
V298A |
probably damaging |
Het |
| Or6c1 |
T |
A |
10: 129,518,081 (GRCm39) |
T176S |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,682 (GRCm39) |
Q283L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,251 (GRCm39) |
D232Y |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,220 (GRCm39) |
R31W |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,603,246 (GRCm39) |
S2248P |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,080,561 (GRCm39) |
S616P |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,159 (GRCm39) |
N540D |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,746 (GRCm39) |
H255Y |
possibly damaging |
Het |
| Rad21 |
T |
C |
15: 51,835,703 (GRCm39) |
N237D |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,582,113 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
C |
A |
10: 21,873,007 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
T |
7: 16,531,464 (GRCm39) |
A490S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,326 (GRCm39) |
Y478H |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,328 (GRCm39) |
Y478* |
probably null |
Het |
| Slc9a3 |
A |
T |
13: 74,311,190 (GRCm39) |
M562L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,568,801 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,555,714 (GRCm39) |
R57* |
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,657,167 (GRCm39) |
R690G |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,727,365 (GRCm39) |
S47P |
probably damaging |
Het |
| Trim39 |
C |
T |
17: 36,574,832 (GRCm39) |
R190Q |
probably damaging |
Het |
| Ttc32 |
A |
T |
12: 9,085,073 (GRCm39) |
I98L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,873,003 (GRCm39) |
T3304A |
probably benign |
Het |
| Wdr35 |
A |
C |
12: 9,062,728 (GRCm39) |
D638A |
probably damaging |
Het |
| Wwc1 |
G |
T |
11: 35,752,671 (GRCm39) |
P797T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,780 (GRCm39) |
T800S |
unknown |
Het |
| Zbbx |
A |
G |
3: 74,990,926 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,811,172 (GRCm39) |
M291V |
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 |
|
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'- GGTGACTGAGATGAGAGATTGCCAC -3'
(R):5'- CACCACTGAGAGGTCAGACATTGC -3'
Sequencing Primer
(F):5'- ATAGTCACTTGACCATCCTGC -3'
(R):5'- AGGTCAGACATTGCCCCTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation