Incidental Mutation 'R2126:Plch2'
| ID |
229866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
040129-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2126 (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 155083456 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 393
(E393G)
|
| 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: E494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: E494G
| 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: E389G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: E389G
| 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: E494G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: E494G
| 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: E418G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: E418G
| 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: E278G
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: E393G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: E393G
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 116 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,066 (GRCm39) |
T255A |
possibly damaging |
Het |
| Acat3 |
C |
T |
17: 13,146,294 (GRCm39) |
A230T |
probably benign |
Het |
| Acsl1 |
C |
A |
8: 46,986,663 (GRCm39) |
P650Q |
probably benign |
Het |
| Adgrl3 |
T |
A |
5: 81,660,383 (GRCm39) |
I316N |
probably damaging |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| AI429214 |
T |
A |
8: 37,461,362 (GRCm39) |
V170E |
probably benign |
Het |
| Akap13 |
G |
A |
7: 75,375,052 (GRCm39) |
G1895S |
possibly damaging |
Het |
| Alpk2 |
G |
A |
18: 65,483,439 (GRCm39) |
Q190* |
probably null |
Het |
| Aox3 |
C |
A |
1: 58,197,375 (GRCm39) |
Q574K |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,962,866 (GRCm39) |
Y702H |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,386,692 (GRCm39) |
I151T |
probably benign |
Het |
| Arhgap28 |
A |
G |
17: 68,176,010 (GRCm39) |
V363A |
possibly damaging |
Het |
| Arhgef18 |
A |
G |
8: 3,501,939 (GRCm39) |
N699S |
probably damaging |
Het |
| Asnsd1 |
A |
G |
1: 53,386,476 (GRCm39) |
S384P |
probably benign |
Het |
| Atl1 |
G |
T |
12: 69,978,431 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
A |
T |
4: 140,722,702 (GRCm39) |
D203V |
possibly damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,160,784 (GRCm39) |
N164K |
probably benign |
Het |
| Bnipl |
T |
A |
3: 95,152,994 (GRCm39) |
I162F |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,845,120 (GRCm39) |
L655I |
probably damaging |
Het |
| Canx |
T |
C |
11: 50,195,185 (GRCm39) |
I294M |
probably damaging |
Het |
| Casz1 |
T |
C |
4: 149,030,521 (GRCm39) |
F1180S |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,449,344 (GRCm39) |
Y121H |
probably benign |
Het |
| Cd4 |
A |
C |
6: 124,847,499 (GRCm39) |
S222A |
probably benign |
Het |
| Cds1 |
T |
C |
5: 101,960,416 (GRCm39) |
I289T |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,399,084 (GRCm39) |
F328L |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Cfap44 |
A |
T |
16: 44,230,838 (GRCm39) |
D273V |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,162,124 (GRCm39) |
T6A |
probably benign |
Het |
| Clec7a |
C |
T |
6: 129,447,918 (GRCm39) |
G49D |
probably benign |
Het |
| Col22a1 |
G |
A |
15: 71,729,102 (GRCm39) |
Q599* |
probably null |
Het |
| Col6a5 |
T |
A |
9: 105,822,799 (GRCm39) |
H186L |
unknown |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,445,613 (GRCm39) |
R725* |
probably null |
Het |
| Dnajc10 |
G |
A |
2: 80,181,078 (GRCm39) |
|
probably null |
Het |
| Edem3 |
A |
T |
1: 151,670,482 (GRCm39) |
H337L |
possibly damaging |
Het |
| Eif2ak4 |
A |
T |
2: 118,252,604 (GRCm39) |
H392L |
probably benign |
Het |
| Ercc6l2 |
G |
A |
13: 63,996,585 (GRCm39) |
V365I |
probably damaging |
Het |
| Fan1 |
T |
C |
7: 63,996,636 (GRCm39) |
E978G |
probably damaging |
Het |
| Fcrl6 |
C |
T |
1: 172,426,815 (GRCm39) |
V44M |
probably benign |
Het |
| Gaa |
G |
A |
11: 119,161,108 (GRCm39) |
W50* |
probably null |
Het |
| Gm10032 |
T |
C |
14: 67,030,227 (GRCm39) |
|
noncoding transcript |
Het |
| Gm10985 |
CTCTAT |
CT |
3: 53,752,670 (GRCm39) |
|
probably null |
Het |
| Gprc5b |
G |
T |
7: 118,583,398 (GRCm39) |
P157Q |
probably damaging |
Het |
| Gsdmc3 |
G |
A |
15: 63,730,383 (GRCm39) |
Q394* |
probably null |
Het |
| Gucd1 |
A |
G |
10: 75,347,922 (GRCm39) |
S38P |
probably damaging |
Het |
| Higd1a |
A |
T |
9: 121,679,313 (GRCm39) |
I58N |
probably damaging |
Het |
| Hmx3 |
G |
C |
7: 131,146,278 (GRCm39) |
V329L |
possibly damaging |
Het |
| Hnrnpul2 |
A |
T |
19: 8,801,802 (GRCm39) |
R337* |
probably null |
Het |
| Idua |
T |
A |
5: 108,829,304 (GRCm39) |
H368Q |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,453,811 (GRCm39) |
V218A |
probably benign |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Kif1b |
G |
A |
4: 149,272,097 (GRCm39) |
S1568L |
possibly damaging |
Het |
| Klhl30 |
T |
A |
1: 91,286,499 (GRCm39) |
|
probably null |
Het |
| Lasp1 |
T |
A |
11: 97,726,960 (GRCm39) |
D227E |
probably benign |
Het |
| Lhx6 |
A |
G |
2: 35,981,336 (GRCm39) |
I85T |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,187,103 (GRCm39) |
D840G |
probably damaging |
Het |
| Loxl4 |
C |
G |
19: 42,592,402 (GRCm39) |
E385D |
probably damaging |
Het |
| Lrrtm4 |
A |
T |
6: 79,998,722 (GRCm39) |
I44F |
probably damaging |
Het |
| Ltbp2 |
T |
C |
12: 84,832,483 (GRCm39) |
|
probably null |
Het |
| Lyg1 |
T |
C |
1: 37,989,755 (GRCm39) |
Y44C |
probably damaging |
Het |
| Map1a |
A |
G |
2: 121,129,122 (GRCm39) |
I129V |
probably damaging |
Het |
| Med27 |
C |
T |
2: 29,414,442 (GRCm39) |
Q150* |
probably null |
Het |
| Ms4a5 |
A |
T |
19: 11,256,732 (GRCm39) |
I55N |
probably damaging |
Het |
| Muc5ac |
T |
C |
7: 141,364,479 (GRCm39) |
S2597P |
possibly damaging |
Het |
| Mxd1 |
A |
C |
6: 86,628,422 (GRCm39) |
|
probably null |
Het |
| Myo3a |
A |
G |
2: 22,468,186 (GRCm39) |
D480G |
probably benign |
Het |
| Neb |
T |
C |
2: 52,200,650 (GRCm39) |
Y343C |
probably damaging |
Het |
| Niban1 |
A |
C |
1: 151,571,886 (GRCm39) |
E277A |
probably damaging |
Het |
| Niban1 |
A |
G |
1: 151,584,884 (GRCm39) |
I494V |
possibly damaging |
Het |
| Nrn1 |
A |
C |
13: 36,914,180 (GRCm39) |
V34G |
probably damaging |
Het |
| Or4k52 |
A |
G |
2: 111,610,841 (GRCm39) |
M59V |
probably damaging |
Het |
| Or4n5 |
A |
G |
14: 50,132,524 (GRCm39) |
I245T |
probably benign |
Het |
| Or52b1 |
C |
T |
7: 104,978,459 (GRCm39) |
W313* |
probably null |
Het |
| Or56a3 |
A |
G |
7: 104,735,822 (GRCm39) |
T300A |
probably damaging |
Het |
| Or8b39 |
G |
T |
9: 37,996,572 (GRCm39) |
V147L |
probably benign |
Het |
| Or8h9 |
T |
C |
2: 86,789,442 (GRCm39) |
Y120C |
possibly damaging |
Het |
| Or8k40 |
A |
T |
2: 86,584,796 (GRCm39) |
N95K |
probably benign |
Het |
| Pdia4 |
A |
T |
6: 47,773,771 (GRCm39) |
V526E |
probably damaging |
Het |
| Pdia6 |
T |
C |
12: 17,328,546 (GRCm39) |
V167A |
probably damaging |
Het |
| Pgk2 |
A |
G |
17: 40,518,400 (GRCm39) |
F343L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,831,160 (GRCm39) |
V827A |
probably damaging |
Het |
| Plag1 |
A |
T |
4: 3,904,169 (GRCm39) |
Y341N |
possibly damaging |
Het |
| Ptprg |
T |
A |
14: 12,154,355 (GRCm38) |
M692K |
probably benign |
Het |
| Rassf8 |
G |
A |
6: 145,760,908 (GRCm39) |
R78H |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,341,027 (GRCm39) |
Q3556R |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,099 (GRCm39) |
|
probably null |
Het |
| Rpe |
T |
G |
1: 66,755,139 (GRCm39) |
F174V |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,159,502 (GRCm39) |
D36G |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,423 (GRCm39) |
Y1590* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,018 (GRCm39) |
V151A |
probably damaging |
Het |
| Slc30a8 |
A |
T |
15: 52,159,330 (GRCm39) |
M17L |
probably benign |
Het |
| Slit3 |
T |
C |
11: 35,579,506 (GRCm39) |
Y1228H |
probably damaging |
Het |
| Smad4 |
G |
A |
18: 73,795,815 (GRCm39) |
T193M |
probably benign |
Het |
| Smtn |
T |
A |
11: 3,480,045 (GRCm39) |
H392L |
probably benign |
Het |
| St8sia3 |
A |
G |
18: 64,402,745 (GRCm39) |
D128G |
probably damaging |
Het |
| Sucla2 |
A |
T |
14: 73,830,108 (GRCm39) |
M382L |
possibly damaging |
Het |
| Tbx5 |
A |
G |
5: 119,974,988 (GRCm39) |
T4A |
probably benign |
Het |
| Tdrd5 |
T |
C |
1: 156,104,143 (GRCm39) |
R528G |
probably damaging |
Het |
| Tex44 |
T |
C |
1: 86,354,811 (GRCm39) |
L240P |
probably benign |
Het |
| Tns4 |
A |
T |
11: 98,970,904 (GRCm39) |
|
probably null |
Het |
| Trappc10 |
A |
T |
10: 78,039,758 (GRCm39) |
V731E |
possibly damaging |
Het |
| Ttf1 |
A |
G |
2: 28,961,357 (GRCm39) |
K582E |
probably damaging |
Het |
| Ttf2 |
C |
A |
3: 100,855,509 (GRCm39) |
Q895H |
possibly damaging |
Het |
| Ttll6 |
A |
G |
11: 96,038,358 (GRCm39) |
E402G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,720,436 (GRCm39) |
|
probably null |
Het |
| Ugt8a |
T |
C |
3: 125,669,195 (GRCm39) |
D303G |
probably damaging |
Het |
| Ulk1 |
G |
T |
5: 110,940,302 (GRCm39) |
A373D |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,306,058 (GRCm39) |
S507P |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,293,033 (GRCm39) |
D358E |
possibly damaging |
Het |
| Vmn2r88 |
T |
C |
14: 51,651,264 (GRCm39) |
S201P |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,403 (GRCm39) |
F78S |
probably damaging |
Het |
| Zfp454 |
A |
C |
11: 50,764,822 (GRCm39) |
S203R |
probably benign |
Het |
| Zfp616 |
C |
A |
11: 73,976,229 (GRCm39) |
Q833K |
probably benign |
Het |
| Znhit2 |
A |
G |
19: 6,112,091 (GRCm39) |
T279A |
probably benign |
Het |
| Zswim3 |
T |
A |
2: 164,661,913 (GRCm39) |
I131N |
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 |
|
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'- GCCCGTAGATACTGTAATTCTCC -3'
(R):5'- ATCGCCTCTTAGAGCAGACG -3'
Sequencing Primer
(F):5'- AGAGCCGTCATGATGCTG -3'
(R):5'- GCAGACGGCAGATCTTTTACC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation