Incidental Mutation 'R1717:Plch2'
| ID |
314418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
039750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1717 (G1)
|
| Quality Score |
141 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 155082729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 564
(G564S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[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 |
noncoding transcript
Transcript: ENSMUST00000127661
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000122704
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 |
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: ENSMUST00000145662
AA Change: G564S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: G564S
| 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 benign
Transcript: ENSMUST00000175982
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176194
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
| 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: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
98% (81/83) |
| 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: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4732465J04Rik |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
GATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCT |
10: 95,629,641 (GRCm39) |
|
probably null |
Het |
| 4930583I09Rik |
T |
C |
17: 65,141,444 (GRCm39) |
N53S |
unknown |
Het |
| 4933434E20Rik |
T |
A |
3: 89,963,544 (GRCm39) |
S67T |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,765,239 (GRCm39) |
I1127V |
possibly damaging |
Het |
| Abcg3 |
G |
A |
5: 105,111,421 (GRCm39) |
Q349* |
probably null |
Het |
| Adam2 |
A |
G |
14: 66,306,007 (GRCm39) |
L158P |
probably damaging |
Het |
| Agrn |
GCTCT |
GCTCTCT |
4: 156,250,976 (GRCm39) |
|
probably null |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Akap11 |
C |
A |
14: 78,750,788 (GRCm39) |
S533I |
probably benign |
Het |
| Aldh1a2 |
A |
T |
9: 71,200,953 (GRCm39) |
N517I |
probably damaging |
Het |
| Aldh4a1 |
A |
T |
4: 139,365,840 (GRCm39) |
H277L |
possibly damaging |
Het |
| Aldh4a1 |
G |
A |
4: 139,361,305 (GRCm39) |
|
probably null |
Het |
| Ankrd27 |
A |
G |
7: 35,327,871 (GRCm39) |
D742G |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,712 (GRCm39) |
|
probably benign |
Het |
| Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
| Armh4 |
T |
C |
14: 49,989,121 (GRCm39) |
D616G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,220,319 (GRCm39) |
K568E |
possibly damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,364,631 (GRCm39) |
R521W |
probably damaging |
Het |
| Casp16 |
A |
G |
17: 23,771,024 (GRCm39) |
I127T |
possibly damaging |
Het |
| Cd163 |
A |
G |
6: 124,306,547 (GRCm39) |
|
probably benign |
Het |
| Cdh8 |
A |
T |
8: 99,757,337 (GRCm39) |
S754T |
probably damaging |
Het |
| Cel |
A |
G |
2: 28,446,789 (GRCm39) |
Y461H |
probably damaging |
Het |
| Chmp4b |
A |
G |
2: 154,499,240 (GRCm39) |
I47V |
possibly damaging |
Het |
| Col1a1 |
A |
G |
11: 94,839,218 (GRCm39) |
M989V |
unknown |
Het |
| Cpsf1 |
A |
T |
15: 76,486,766 (GRCm39) |
S257T |
possibly damaging |
Het |
| Csmd1 |
A |
T |
8: 17,266,708 (GRCm39) |
S73T |
possibly damaging |
Het |
| Csnk2a2 |
T |
C |
8: 96,182,436 (GRCm39) |
|
probably null |
Het |
| Dact2 |
A |
T |
17: 14,418,175 (GRCm39) |
W177R |
probably benign |
Het |
| Ddx10 |
A |
G |
9: 53,071,253 (GRCm39) |
V680A |
probably benign |
Het |
| Eif5 |
T |
A |
12: 111,508,651 (GRCm39) |
D215E |
probably benign |
Het |
| Evpl |
C |
T |
11: 116,116,318 (GRCm39) |
A817T |
probably benign |
Het |
| Fmo6 |
T |
A |
1: 162,753,821 (GRCm39) |
R131* |
probably null |
Het |
| Fsd2 |
T |
C |
7: 81,184,857 (GRCm39) |
T680A |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,805,289 (GRCm39) |
V536A |
possibly damaging |
Het |
| Fzd8 |
T |
C |
18: 9,214,364 (GRCm39) |
F482S |
probably damaging |
Het |
| Gabrb1 |
A |
T |
5: 72,265,694 (GRCm39) |
|
probably null |
Het |
| Galnt9 |
T |
G |
5: 110,744,078 (GRCm39) |
I304S |
probably benign |
Het |
| Glra3 |
G |
T |
8: 56,393,942 (GRCm39) |
A18S |
probably benign |
Het |
| Gm5334 |
A |
C |
7: 68,268,725 (GRCm39) |
|
noncoding transcript |
Het |
| Grcc10 |
A |
T |
6: 124,717,476 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,734,937 (GRCm39) |
T192A |
probably damaging |
Het |
| Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
| Irgm2 |
T |
A |
11: 58,111,461 (GRCm39) |
L396Q |
probably damaging |
Het |
| Ksr2 |
T |
A |
5: 117,809,514 (GRCm39) |
C426S |
probably damaging |
Het |
| Lair1 |
A |
G |
7: 4,013,788 (GRCm39) |
F153S |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,392,138 (GRCm39) |
H2835R |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,399,534 (GRCm39) |
T2325A |
probably damaging |
Het |
| Lrrd1 |
T |
C |
5: 3,900,580 (GRCm39) |
F295S |
probably damaging |
Het |
| Meis1 |
T |
A |
11: 18,960,608 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,484,579 (GRCm39) |
I156K |
probably benign |
Het |
| Mmd2 |
T |
C |
5: 142,561,105 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
G |
16: 48,272,840 (GRCm39) |
I156V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,753,405 (GRCm38) |
T1094A |
possibly damaging |
Het |
| Nckap1 |
A |
G |
2: 80,343,014 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
| Or12e1 |
A |
T |
2: 87,022,247 (GRCm39) |
N72I |
probably benign |
Het |
| Or2t49 |
T |
A |
11: 58,392,885 (GRCm39) |
M166L |
probably benign |
Het |
| Or4e2 |
T |
C |
14: 52,688,296 (GRCm39) |
V142A |
probably benign |
Het |
| Or5as1 |
A |
T |
2: 86,980,150 (GRCm39) |
L285* |
probably null |
Het |
| Or8d1b |
C |
T |
9: 38,887,706 (GRCm39) |
L245F |
probably damaging |
Het |
| Pcdha1 |
T |
C |
18: 37,065,237 (GRCm39) |
S634P |
probably benign |
Het |
| Pcdhb12 |
T |
A |
18: 37,569,841 (GRCm39) |
V329E |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,312,793 (GRCm39) |
D193E |
probably benign |
Het |
| Pcsk1 |
G |
C |
13: 75,258,947 (GRCm39) |
M240I |
probably damaging |
Het |
| Pdc |
T |
A |
1: 150,208,892 (GRCm39) |
I125N |
probably damaging |
Het |
| Rasgrf1 |
G |
T |
9: 89,835,966 (GRCm39) |
Q231H |
probably damaging |
Het |
| Riok1 |
T |
A |
13: 38,236,926 (GRCm39) |
I389N |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,160,135 (GRCm39) |
S50R |
probably benign |
Het |
| Samd13 |
T |
C |
3: 146,352,070 (GRCm39) |
T75A |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,915,876 (GRCm39) |
H1329Y |
possibly damaging |
Het |
| Siglec1 |
T |
C |
2: 130,925,932 (GRCm39) |
N258S |
probably damaging |
Het |
| Slbp |
G |
A |
5: 33,802,946 (GRCm39) |
A126V |
probably benign |
Het |
| Slc12a4 |
A |
T |
8: 106,674,203 (GRCm39) |
|
probably null |
Het |
| Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
| Synpo2 |
C |
A |
3: 122,906,203 (GRCm39) |
V1038F |
probably damaging |
Het |
| Tbk1 |
G |
A |
10: 121,397,550 (GRCm39) |
T374I |
probably benign |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmem190 |
T |
C |
7: 4,787,132 (GRCm39) |
L112P |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,816,042 (GRCm39) |
R1715Q |
probably damaging |
Het |
| Ulbp3 |
A |
T |
10: 3,075,050 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,811 (GRCm39) |
L220P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,392,609 (GRCm39) |
Q816R |
probably benign |
Het |
| Zfhx4 |
T |
C |
3: 5,468,164 (GRCm39) |
I2799T |
probably benign |
Het |
| Zfp105 |
T |
C |
9: 122,759,696 (GRCm39) |
S456P |
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 |
|
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 |
|
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'- AGACTGCTCCTCACATCCATAG -3'
(R):5'- AGGCTCTGCTTGTAGGGAAC -3'
Sequencing Primer
(F):5'- TAAGGCTAGCCACCAAGGTCTG -3'
(R):5'- GGAACCTGGAGTTGGCC -3'
|
| Posted On |
2015-05-04 |
Incidental Mutation