Incidental Mutation 'R7438:Plch2'
| ID |
576719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
045514-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7438 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 155084917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 442
(R442C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122704
(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: R442C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: R442C
| 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 damaging
Transcript: ENSMUST00000135665
AA Change: R337C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: R337C
| 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: R442C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: R442C
| 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: R366C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: R366C
| 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 |
probably damaging
Transcript: ENSMUST00000175982
AA Change: R226C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176194
AA Change: R341C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: R341C
| 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 |
0.7331 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (88/88) |
| 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: 87 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
T |
C |
14: 118,853,858 (GRCm39) |
S425G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,324,609 (GRCm39) |
I615T |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,906,818 (GRCm39) |
I67N |
probably damaging |
Het |
| Asxl2 |
C |
T |
12: 3,477,108 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
C |
T |
16: 29,260,014 (GRCm39) |
G607D |
|
Het |
| Atp2c2 |
G |
A |
8: 120,474,936 (GRCm39) |
V514M |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,468,082 (GRCm39) |
C311R |
possibly damaging |
Het |
| Becn1 |
A |
C |
11: 101,185,052 (GRCm39) |
S137R |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| C8a |
T |
C |
4: 104,718,626 (GRCm39) |
K110E |
probably damaging |
Het |
| Camta2 |
A |
G |
11: 70,574,714 (GRCm39) |
|
probably null |
Het |
| Capn8 |
T |
A |
1: 182,426,240 (GRCm39) |
Y192N |
probably damaging |
Het |
| Ccdc170 |
C |
T |
10: 4,508,512 (GRCm39) |
Q579* |
probably null |
Het |
| Cenpa |
G |
T |
5: 30,824,292 (GRCm39) |
|
probably benign |
Het |
| Cltc |
A |
G |
11: 86,616,054 (GRCm39) |
V404A |
probably benign |
Het |
| Cyp3a11 |
A |
T |
5: 145,802,710 (GRCm39) |
L261Q |
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,170,436 (GRCm39) |
S249R |
probably benign |
Het |
| Dchs1 |
T |
A |
7: 105,404,155 (GRCm39) |
I2796F |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,673,222 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,347,098 (GRCm39) |
D2527V |
probably damaging |
Het |
| Dsg4 |
G |
A |
18: 20,599,685 (GRCm39) |
R767Q |
probably damaging |
Het |
| Edaradd |
A |
G |
13: 12,493,338 (GRCm39) |
I118T |
probably damaging |
Het |
| Fam83h |
A |
G |
15: 75,876,275 (GRCm39) |
F354S |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,899,778 (GRCm39) |
V3085A |
probably benign |
Het |
| Fer |
A |
G |
17: 64,440,516 (GRCm39) |
D711G |
possibly damaging |
Het |
| G6pc1 |
G |
T |
11: 101,267,503 (GRCm39) |
V318F |
probably benign |
Het |
| Gal3st1 |
C |
A |
11: 3,948,227 (GRCm39) |
H145N |
probably benign |
Het |
| Helz |
C |
T |
11: 107,552,856 (GRCm39) |
P1211S |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,302,038 (GRCm39) |
I667V |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,753,466 (GRCm39) |
|
probably null |
Het |
| Hivep1 |
C |
T |
13: 42,308,387 (GRCm39) |
T209I |
probably damaging |
Het |
| Hsph1 |
A |
G |
5: 149,542,485 (GRCm39) |
Y678H |
probably damaging |
Het |
| Ift122 |
C |
T |
6: 115,903,263 (GRCm39) |
R1176C |
probably benign |
Het |
| Ighv1-23 |
T |
C |
12: 114,728,095 (GRCm39) |
D109G |
probably damaging |
Het |
| Itgb3 |
T |
C |
11: 104,534,403 (GRCm39) |
V420A |
possibly damaging |
Het |
| Kcnk13 |
C |
A |
12: 100,027,985 (GRCm39) |
N353K |
probably damaging |
Het |
| Kif21a |
A |
G |
15: 90,877,999 (GRCm39) |
F270L |
probably benign |
Het |
| Kit |
T |
A |
5: 75,799,660 (GRCm39) |
V464D |
probably benign |
Het |
| Klhl36 |
G |
A |
8: 120,596,914 (GRCm39) |
W205* |
probably null |
Het |
| Krt17 |
A |
G |
11: 100,149,291 (GRCm39) |
Y260H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,588,706 (GRCm39) |
Q1108* |
probably null |
Het |
| Lrch1 |
G |
A |
14: 74,994,477 (GRCm39) |
T709I |
possibly damaging |
Het |
| Lrrc58 |
C |
A |
16: 37,689,053 (GRCm39) |
Q66K |
probably benign |
Het |
| Mei1 |
G |
A |
15: 81,999,682 (GRCm39) |
A664T |
|
Het |
| Mtmr6 |
C |
T |
14: 60,537,753 (GRCm39) |
T546M |
probably benign |
Het |
| Ncoa3 |
T |
A |
2: 165,910,449 (GRCm39) |
F1288L |
probably damaging |
Het |
| Nwd1 |
G |
T |
8: 73,434,458 (GRCm39) |
V1352L |
probably benign |
Het |
| Or4k77 |
T |
A |
2: 111,199,707 (GRCm39) |
H243Q |
probably damaging |
Het |
| Or5ac17 |
A |
T |
16: 59,036,761 (GRCm39) |
C72S |
probably benign |
Het |
| Ovol3 |
C |
T |
7: 29,934,646 (GRCm39) |
|
probably null |
Het |
| Palb2 |
C |
A |
7: 121,716,554 (GRCm39) |
V843L |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,878 (GRCm39) |
|
probably null |
Het |
| Per1 |
A |
G |
11: 68,995,561 (GRCm39) |
S714G |
possibly damaging |
Het |
| Pon2 |
A |
T |
6: 5,289,080 (GRCm39) |
S26R |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,115,378 (GRCm39) |
N834Y |
probably damaging |
Het |
| Pramel22 |
T |
C |
4: 143,382,130 (GRCm39) |
I189V |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,749,795 (GRCm39) |
W483* |
probably null |
Het |
| Rnd1 |
A |
T |
15: 98,571,782 (GRCm39) |
V88E |
probably damaging |
Het |
| Sbno2 |
T |
A |
10: 79,905,409 (GRCm39) |
T142S |
unknown |
Het |
| Scn9a |
C |
T |
2: 66,377,531 (GRCm39) |
V384M |
possibly damaging |
Het |
| Sertad4 |
T |
A |
1: 192,529,018 (GRCm39) |
H266L |
possibly damaging |
Het |
| Setd5 |
T |
A |
6: 113,092,043 (GRCm39) |
M288K |
possibly damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,845,799 (GRCm39) |
N66Y |
probably damaging |
Het |
| Sinhcaf |
A |
G |
6: 148,834,600 (GRCm39) |
Y10H |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,095,425 (GRCm39) |
N78I |
probably damaging |
Het |
| Sltm |
G |
T |
9: 70,480,748 (GRCm39) |
G200V |
unknown |
Het |
| Smg1 |
A |
G |
7: 117,795,116 (GRCm39) |
I477T |
unknown |
Het |
| Supv3l1 |
C |
T |
10: 62,266,249 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
G |
12: 76,062,337 (GRCm39) |
R4220G |
probably benign |
Het |
| Tbr1 |
A |
T |
2: 61,635,161 (GRCm39) |
H37L |
possibly damaging |
Het |
| Tet3 |
TGGCCCAGGCCCAGGC |
TGGCCCAGGCCCAGGCCCAGGC |
6: 83,345,211 (GRCm39) |
|
probably benign |
Het |
| Tmem231 |
G |
T |
8: 112,645,040 (GRCm39) |
S155R |
probably damaging |
Het |
| Trem3 |
A |
G |
17: 48,565,498 (GRCm39) |
*184W |
probably null |
Het |
| Trim33 |
T |
A |
3: 103,253,956 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,943 (GRCm39) |
W233* |
probably null |
Het |
| Ttc21a |
T |
A |
9: 119,774,605 (GRCm39) |
N286K |
probably damaging |
Het |
| Tulp4 |
A |
T |
17: 6,248,983 (GRCm39) |
M194L |
probably benign |
Het |
| Ube3b |
C |
A |
5: 114,553,345 (GRCm39) |
R906S |
possibly damaging |
Het |
| Ube3b |
A |
C |
5: 114,556,687 (GRCm39) |
D1006A |
probably damaging |
Het |
| Vipas39 |
A |
T |
12: 87,288,705 (GRCm39) |
|
probably null |
Het |
| Wdr35 |
T |
A |
12: 9,072,785 (GRCm39) |
Y920N |
probably damaging |
Het |
| Zan |
T |
G |
5: 137,423,824 (GRCm39) |
I2692L |
unknown |
Het |
| Zfp142 |
C |
A |
1: 74,624,679 (GRCm39) |
E48D |
probably benign |
Het |
| Zfp598 |
T |
C |
17: 24,896,504 (GRCm39) |
Y194H |
probably damaging |
Het |
| Zfp85 |
T |
C |
13: 67,897,064 (GRCm39) |
N336S |
probably benign |
Het |
| Zfyve27 |
A |
T |
19: 42,177,959 (GRCm39) |
|
probably null |
Het |
| Zp3 |
T |
C |
5: 136,011,559 (GRCm39) |
S126P |
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 |
|
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 |
|
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'- CTCTCAGTGGTGAACAAAAGGG -3'
(R):5'- CAGTGATGGAGATACACCACGG -3'
Sequencing Primer
(F):5'- GTGAACAAAAGGGACCCTGCC -3'
(R):5'- GGCTTTACCAACTACACCCGG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation