Incidental Mutation 'R8826:Plch2'
| ID |
673443 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
068729-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8826 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155071140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1080
(T1080A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105631
|
| SMART Domains |
Protein: ENSMUSP00000101256
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 |
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 |
probably benign
Transcript: ENSMUST00000135665
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
| 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 benign
Transcript: ENSMUST00000139976
AA Change: T1080A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: T1080A
| 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 benign
Transcript: ENSMUST00000175982
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: T979A
| 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
AA Change: T321A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: T321A
| 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: 98.9%
|
| 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: 90 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
T |
C |
8: 124,619,978 (GRCm39) |
M121V |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,024,627 (GRCm39) |
H120Q |
possibly damaging |
Het |
| Aldh9a1 |
C |
G |
1: 167,184,119 (GRCm39) |
P205A |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,951 (GRCm39) |
N1644K |
unknown |
Het |
| Arfgef2 |
A |
T |
2: 166,677,386 (GRCm39) |
|
probably benign |
Het |
| Bpifb4 |
G |
T |
2: 153,783,817 (GRCm39) |
V54L |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,711,836 (GRCm39) |
M456L |
|
Het |
| Cbln1 |
T |
C |
8: 88,198,420 (GRCm39) |
N95S |
probably benign |
Het |
| Ccl11 |
G |
T |
11: 81,953,044 (GRCm39) |
R67S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,157 (GRCm39) |
R165C |
probably benign |
Het |
| Cd2bp2 |
A |
T |
7: 126,793,257 (GRCm39) |
M283K |
probably damaging |
Het |
| Cd86 |
G |
T |
16: 36,435,650 (GRCm39) |
L256I |
possibly damaging |
Het |
| Ces2f |
T |
A |
8: 105,679,734 (GRCm39) |
F409Y |
probably benign |
Het |
| Cisd3 |
A |
T |
11: 97,579,158 (GRCm39) |
Q100L |
probably damaging |
Het |
| Cntnap1 |
C |
T |
11: 101,077,655 (GRCm39) |
R1106C |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,439,433 (GRCm39) |
M777K |
probably damaging |
Het |
| Cp |
A |
G |
3: 20,039,739 (GRCm39) |
Y852C |
probably damaging |
Het |
| Ddx1 |
T |
C |
12: 13,277,332 (GRCm39) |
E523G |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,398,990 (GRCm39) |
D236E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,740,742 (GRCm39) |
F4148Y |
probably benign |
Het |
| Dusp6 |
G |
T |
10: 99,099,469 (GRCm39) |
|
probably benign |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Enpep |
G |
A |
3: 129,065,067 (GRCm39) |
T874I |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,169,505 (GRCm39) |
D105G |
possibly damaging |
Het |
| Ess2 |
A |
T |
16: 17,722,954 (GRCm39) |
M320K |
probably damaging |
Het |
| Exosc10 |
G |
A |
4: 148,653,159 (GRCm39) |
|
probably null |
Het |
| Fam13b |
A |
T |
18: 34,631,070 (GRCm39) |
N36K |
probably damaging |
Het |
| Fanca |
T |
C |
8: 123,995,209 (GRCm39) |
D1431G |
probably benign |
Het |
| Fgg |
A |
G |
3: 82,921,625 (GRCm39) |
D436G |
probably benign |
Het |
| Fip1l1 |
C |
T |
5: 74,725,188 (GRCm39) |
T251I |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,032,347 (GRCm39) |
N104S |
probably damaging |
Het |
| Gmip |
T |
C |
8: 70,268,748 (GRCm39) |
S458P |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,756,144 (GRCm39) |
D728G |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,788,671 (GRCm39) |
L100P |
probably damaging |
Het |
| Hmox2 |
C |
G |
16: 4,583,866 (GRCm39) |
P282R |
possibly damaging |
Het |
| Hook1 |
A |
T |
4: 95,880,432 (GRCm39) |
H90L |
probably benign |
Het |
| Igf2bp2 |
C |
A |
16: 21,883,866 (GRCm39) |
G473C |
probably damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,675,379 (GRCm39) |
|
probably null |
Het |
| Ipo5 |
G |
T |
14: 121,157,366 (GRCm39) |
R68L |
probably damaging |
Het |
| Kif19b |
A |
G |
5: 140,455,434 (GRCm39) |
M347V |
probably damaging |
Het |
| Klhdc1 |
G |
T |
12: 69,305,392 (GRCm39) |
W234L |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,870 (GRCm39) |
V178A |
possibly damaging |
Het |
| Lgi3 |
T |
A |
14: 70,768,712 (GRCm39) |
|
probably null |
Het |
| Litaf |
T |
G |
16: 10,784,421 (GRCm39) |
N30H |
probably benign |
Het |
| Lman2 |
C |
A |
13: 55,510,368 (GRCm39) |
W12L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,276,022 (GRCm39) |
L6182P |
probably damaging |
Het |
| Magi3 |
A |
T |
3: 103,992,662 (GRCm39) |
M270K |
probably benign |
Het |
| Mapre2 |
A |
T |
18: 23,886,888 (GRCm39) |
|
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,483,234 (GRCm39) |
E721V |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,167,353 (GRCm39) |
V426D |
probably benign |
Het |
| Mrgprf |
A |
G |
7: 144,862,046 (GRCm39) |
I203V |
probably benign |
Het |
| Mrnip |
G |
A |
11: 50,067,688 (GRCm39) |
C27Y |
probably damaging |
Het |
| Mrpl24 |
C |
T |
3: 87,829,701 (GRCm39) |
R96* |
probably null |
Het |
| Nbas |
T |
A |
12: 13,402,875 (GRCm39) |
|
probably benign |
Het |
| Nipal4 |
G |
A |
11: 46,045,470 (GRCm39) |
T131M |
possibly damaging |
Het |
| Nlrp12 |
T |
C |
7: 3,289,621 (GRCm39) |
D297G |
possibly damaging |
Het |
| Nol6 |
A |
C |
4: 41,121,823 (GRCm39) |
M237R |
probably benign |
Het |
| Olig1 |
A |
G |
16: 91,067,027 (GRCm39) |
E88G |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,855 (GRCm39) |
L106* |
probably null |
Het |
| Parg |
A |
G |
14: 31,931,175 (GRCm39) |
D265G |
possibly damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,895,301 (GRCm39) |
I124L |
probably damaging |
Het |
| Pign |
A |
G |
1: 105,481,827 (GRCm39) |
F822L |
probably damaging |
Het |
| Pld4 |
A |
T |
12: 112,733,210 (GRCm39) |
Y262F |
possibly damaging |
Het |
| Ppp1r12b |
A |
G |
1: 134,693,730 (GRCm39) |
V977A |
probably benign |
Het |
| Ppp6r3 |
C |
T |
19: 3,521,984 (GRCm39) |
E565K |
|
Het |
| Psmg2 |
A |
G |
18: 67,787,158 (GRCm39) |
|
probably benign |
Het |
| Ptcd3 |
C |
T |
6: 71,885,645 (GRCm39) |
G27D |
probably benign |
Het |
| Retreg2 |
G |
T |
1: 75,119,525 (GRCm39) |
G7C |
unknown |
Het |
| Rlbp1 |
A |
T |
7: 79,027,114 (GRCm39) |
F182Y |
probably benign |
Het |
| Rnf148 |
G |
C |
6: 23,654,378 (GRCm39) |
S206C |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,637,869 (GRCm39) |
M1T |
probably null |
Het |
| Shank3 |
A |
T |
15: 89,433,598 (GRCm39) |
T1448S |
probably damaging |
Het |
| Sipa1l1 |
A |
G |
12: 82,389,207 (GRCm39) |
K478E |
probably damaging |
Het |
| Slitrk6 |
A |
G |
14: 110,988,801 (GRCm39) |
I302T |
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,950,529 (GRCm39) |
V1165A |
probably damaging |
Het |
| Sncaip |
A |
T |
18: 53,048,381 (GRCm39) |
H939L |
probably benign |
Het |
| Stn1 |
T |
C |
19: 47,524,709 (GRCm39) |
D27G |
probably damaging |
Het |
| Sugct |
T |
G |
13: 17,427,180 (GRCm39) |
|
probably null |
Het |
| Tmem259 |
A |
G |
10: 79,814,983 (GRCm39) |
S214P |
probably damaging |
Het |
| Trdv4 |
G |
A |
14: 54,312,946 (GRCm39) |
G107S |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,232,829 (GRCm39) |
L957F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,711,471 (GRCm39) |
Y8357H |
unknown |
Het |
| Twnk |
T |
C |
19: 44,996,434 (GRCm39) |
V289A |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,202,958 (GRCm39) |
D437G |
possibly damaging |
Het |
| Upf1 |
T |
C |
8: 70,790,930 (GRCm39) |
T590A |
probably benign |
Het |
| Vmn2r63 |
A |
T |
7: 42,576,441 (GRCm39) |
D457E |
probably benign |
Het |
| Wdr82 |
A |
T |
9: 106,061,975 (GRCm39) |
T213S |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,218,255 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Zfp672 |
A |
T |
11: 58,220,590 (GRCm39) |
M3K |
unknown |
Het |
| Zfyve26 |
A |
G |
12: 79,285,742 (GRCm39) |
V2345A |
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 |
|
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 |
|
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'- AAGGCGTTCATCTCTCCCTG -3'
(R):5'- TCTTCCTCCGAGGCACAAAG -3'
Sequencing Primer
(F):5'- ACTTGGGCTGCAGCAAG -3'
(R):5'- AGGCTCGCTGGACAGTCATG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation