Incidental Mutation 'R0413:Plch2'
| ID |
36777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
038615-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 155091373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000105631]
[ENSMUST00000126098]
[ENSMUST00000131173]
[ENSMUST00000135665]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably null
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 null
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: ENSMUST00000126098
|
| SMART Domains |
Protein: ENSMUSP00000115440
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1mai__
|
39 |
58 |
2e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131173
|
| SMART Domains |
Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
31 |
111 |
6e-49 |
BLAST |
|
SCOP:d1mai__
|
34 |
111 |
4e-18 |
SMART |
|
| Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000145662
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
| 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 null
Transcript: ENSMUST00000145662
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
| 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 null
Transcript: ENSMUST00000175982
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000175982
|
| Predicted Effect |
probably null
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 null
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 |
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
99% (99/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
A |
G |
2: 69,158,355 (GRCm39) |
|
probably benign |
Het |
| Adh1 |
C |
T |
3: 137,986,193 (GRCm39) |
T60I |
probably benign |
Het |
| Agtpbp1 |
T |
A |
13: 59,661,966 (GRCm39) |
I282F |
probably damaging |
Het |
| Arih2 |
G |
T |
9: 108,493,916 (GRCm39) |
Q166K |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,025,947 (GRCm39) |
T1031A |
probably benign |
Het |
| Ccdc102a |
C |
A |
8: 95,629,914 (GRCm39) |
E542D |
probably benign |
Het |
| Cdk1 |
T |
C |
10: 69,180,929 (GRCm39) |
I94V |
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,359,176 (GRCm39) |
Q969* |
probably null |
Het |
| Cilp2 |
A |
G |
8: 70,335,643 (GRCm39) |
S452P |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,606,642 (GRCm39) |
T594A |
probably damaging |
Het |
| Cpox |
A |
G |
16: 58,491,232 (GRCm39) |
T148A |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,933,460 (GRCm39) |
|
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,760,530 (GRCm39) |
C202S |
probably damaging |
Het |
| Dlgap4 |
T |
C |
2: 156,604,746 (GRCm39) |
S261P |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,998,961 (GRCm39) |
Y1029F |
probably damaging |
Het |
| Dok5 |
T |
C |
2: 170,671,880 (GRCm39) |
|
probably benign |
Het |
| Dusp11 |
A |
T |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| Edar |
T |
C |
10: 58,465,262 (GRCm39) |
N34D |
probably benign |
Het |
| Efcab7 |
C |
T |
4: 99,766,943 (GRCm39) |
T56I |
probably damaging |
Het |
| Entpd1 |
G |
A |
19: 40,699,729 (GRCm39) |
V47I |
probably benign |
Het |
| Ephx4 |
A |
G |
5: 107,551,601 (GRCm39) |
N62S |
probably benign |
Het |
| Etaa1 |
A |
T |
11: 17,896,350 (GRCm39) |
L589* |
probably null |
Het |
| Fam135b |
T |
A |
15: 71,335,670 (GRCm39) |
N508I |
probably benign |
Het |
| Fam193a |
T |
C |
5: 34,623,552 (GRCm39) |
V27A |
possibly damaging |
Het |
| Fmnl1 |
A |
G |
11: 103,084,889 (GRCm39) |
|
probably benign |
Het |
| Fstl1 |
A |
C |
16: 37,641,516 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
G |
A |
5: 105,268,972 (GRCm39) |
R394C |
possibly damaging |
Het |
| Gemin4 |
T |
C |
11: 76,102,148 (GRCm39) |
Y871C |
probably benign |
Het |
| Get1 |
T |
G |
16: 95,954,217 (GRCm39) |
S105R |
probably benign |
Het |
| Gm7247 |
T |
C |
14: 51,760,929 (GRCm39) |
V166A |
probably benign |
Het |
| Gpcpd1 |
A |
T |
2: 132,406,543 (GRCm39) |
|
probably benign |
Het |
| Gpnmb |
A |
G |
6: 49,019,737 (GRCm39) |
D36G |
probably benign |
Het |
| Ido2 |
C |
T |
8: 25,048,159 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
G |
A |
1: 135,895,334 (GRCm39) |
T1744I |
probably benign |
Het |
| Inf2 |
T |
G |
12: 112,568,110 (GRCm39) |
F221V |
probably damaging |
Het |
| Itga10 |
T |
A |
3: 96,556,375 (GRCm39) |
I170N |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,484,587 (GRCm39) |
D345E |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,366,062 (GRCm39) |
S2900T |
probably benign |
Het |
| Med13 |
C |
A |
11: 86,190,033 (GRCm39) |
|
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,362 (GRCm39) |
V507A |
probably damaging |
Het |
| Myadm |
AC |
ACC |
7: 3,345,276 (GRCm39) |
|
probably null |
Het |
| Myl6 |
C |
T |
10: 128,328,091 (GRCm39) |
|
probably benign |
Het |
| Mylk |
T |
C |
16: 34,742,314 (GRCm39) |
V942A |
probably benign |
Het |
| Myorg |
G |
T |
4: 41,498,585 (GRCm39) |
H348Q |
probably benign |
Het |
| Ncdn |
G |
T |
4: 126,644,327 (GRCm39) |
T165K |
possibly damaging |
Het |
| Ncf1 |
T |
C |
5: 134,251,656 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,180,751 (GRCm39) |
|
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,656,681 (GRCm39) |
I604N |
probably benign |
Het |
| Nsrp1 |
T |
C |
11: 76,936,997 (GRCm39) |
R400G |
probably benign |
Het |
| Nup43 |
T |
G |
10: 7,546,791 (GRCm39) |
I137S |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,109,648 (GRCm39) |
N1585S |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,893,823 (GRCm39) |
Y6748F |
probably benign |
Het |
| Omg |
A |
G |
11: 79,393,661 (GRCm39) |
S66P |
possibly damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,108 (GRCm39) |
S265T |
possibly damaging |
Het |
| Or2y1d |
T |
C |
11: 49,322,212 (GRCm39) |
V303A |
possibly damaging |
Het |
| Or4c15 |
A |
G |
2: 88,759,906 (GRCm39) |
V251A |
probably benign |
Het |
| Or51b6b |
A |
T |
7: 103,309,957 (GRCm39) |
F167I |
possibly damaging |
Het |
| Or52z1 |
A |
G |
7: 103,437,362 (GRCm39) |
Y41H |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,019 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8g27 |
A |
G |
9: 39,129,566 (GRCm39) |
I304M |
probably benign |
Het |
| Or8k24 |
G |
A |
2: 86,216,058 (GRCm39) |
R235C |
probably benign |
Het |
| Ormdl1 |
C |
T |
1: 53,347,978 (GRCm39) |
|
probably benign |
Het |
| Ovch2 |
T |
A |
7: 107,381,243 (GRCm39) |
I552L |
probably benign |
Het |
| Pcare |
T |
G |
17: 72,059,212 (GRCm39) |
D155A |
probably benign |
Het |
| Pcsk9 |
G |
T |
4: 106,311,538 (GRCm39) |
T231N |
probably damaging |
Het |
| Pgpep1 |
T |
C |
8: 71,110,100 (GRCm39) |
N22S |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,512,706 (GRCm39) |
F1355L |
probably damaging |
Het |
| Plcg1 |
G |
T |
2: 160,603,349 (GRCm39) |
L1173F |
probably damaging |
Het |
| Ppp1r3g |
T |
A |
13: 36,153,331 (GRCm39) |
F250L |
probably damaging |
Het |
| Prkcg |
A |
G |
7: 3,368,095 (GRCm39) |
I381V |
probably benign |
Het |
| Pum2 |
C |
T |
12: 8,763,464 (GRCm39) |
A207V |
probably benign |
Het |
| Rabac1 |
T |
C |
7: 24,669,607 (GRCm39) |
E166G |
probably damaging |
Het |
| Rad21l |
G |
A |
2: 151,493,851 (GRCm39) |
S450L |
probably benign |
Het |
| Rangap1 |
ACACTCA |
ACA |
15: 81,600,876 (GRCm39) |
|
probably null |
Het |
| Reg3b |
G |
T |
6: 78,348,824 (GRCm39) |
C40F |
probably damaging |
Het |
| Rfx2 |
A |
G |
17: 57,091,418 (GRCm39) |
|
probably benign |
Het |
| Rrp15 |
G |
A |
1: 186,481,346 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
G |
T |
3: 68,401,946 (GRCm39) |
G36C |
probably damaging |
Het |
| Sec61a2 |
A |
T |
2: 5,881,165 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,669,590 (GRCm39) |
K705E |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,029,290 (GRCm39) |
Y186C |
probably damaging |
Het |
| Slc22a23 |
T |
C |
13: 34,367,115 (GRCm39) |
E631G |
probably damaging |
Het |
| Slc5a5 |
T |
C |
8: 71,344,319 (GRCm39) |
T134A |
possibly damaging |
Het |
| Stx7 |
T |
C |
10: 24,057,492 (GRCm39) |
S173P |
probably damaging |
Het |
| Sybu |
T |
C |
15: 44,536,668 (GRCm39) |
T353A |
probably damaging |
Het |
| Syde2 |
T |
A |
3: 145,712,887 (GRCm39) |
N1008K |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,606,253 (GRCm39) |
|
probably benign |
Het |
| Timm10b |
G |
A |
7: 105,327,537 (GRCm39) |
E61K |
probably benign |
Het |
| Tm2d1 |
A |
G |
4: 98,253,810 (GRCm39) |
I121T |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,892 (GRCm39) |
E186G |
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,837,396 (GRCm39) |
K895E |
probably benign |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,830 (GRCm39) |
S219P |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,087 (GRCm39) |
S294T |
possibly damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,080 (GRCm39) |
F737I |
probably damaging |
Het |
| Vsx2 |
A |
T |
12: 84,616,777 (GRCm39) |
T21S |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,010,534 (GRCm39) |
R833S |
probably damaging |
Het |
| Zfpl1 |
G |
A |
19: 6,132,482 (GRCm39) |
P143L |
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 |
|
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 |
|
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'- TCATCAAACGTCTGCTTCAGCCAC -3'
(R):5'- GCAGTTTCCATCGACTCCATCCAG -3'
Sequencing Primer
(F):5'- TGCTTCAGCCACTTTGGG -3'
(R):5'- GGCAGTCTGAAATCTTCCAGC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation