Incidental Mutation 'R6253:Plch2'
| ID |
506319 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
PLCeta2, Plcl4, A930027K05Rik |
| MMRRC Submission |
044370-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6253 (G1)
|
| Quality Score |
213.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
155067572-155141241 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 155091558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 84
(Y84F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000126098]
[ENSMUST00000131173]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000145662]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105631
AA Change: Y185F
PolyPhen 2
Score 0.636 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: Y185F
| 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
AA Change: Y102F
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118629
Gene: ENSMUSG00000029055
AA Change: Y102F
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
31 |
111 |
6e-49 |
BLAST |
|
SCOP:d1mai__
|
34 |
111 |
4e-18 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000135665
AA Change: Y80F
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: Y80F
| 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 |
possibly damaging
Transcript: ENSMUST00000139976
AA Change: Y185F
PolyPhen 2
Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: Y185F
| 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: Y109F
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119864
Gene: ENSMUSG00000029055
AA Change: Y109F
| 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 damaging
Transcript: ENSMUST00000176194
AA Change: Y84F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: Y84F
| 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 |
possibly damaging
Transcript: ENSMUST00000186598
AA Change: Y102F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000141152
Gene: ENSMUSG00000029055
AA Change: Y102F
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
A |
G |
2: 19,528,929 (GRCm39) |
Y151H |
possibly damaging |
Het |
| Aasdh |
A |
G |
5: 77,034,105 (GRCm39) |
I482T |
possibly damaging |
Het |
| Abca3 |
G |
A |
17: 24,616,526 (GRCm39) |
M989I |
probably benign |
Het |
| Acvr2b |
C |
T |
9: 119,257,627 (GRCm39) |
P220L |
probably damaging |
Het |
| Aqr |
T |
C |
2: 113,986,758 (GRCm39) |
D204G |
possibly damaging |
Het |
| Arpp19 |
G |
T |
9: 74,964,016 (GRCm39) |
D123Y |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,983,881 (GRCm39) |
I554T |
probably damaging |
Het |
| Bpifa5 |
A |
G |
2: 154,005,420 (GRCm39) |
M1V |
probably null |
Het |
| Cdh3 |
T |
A |
8: 107,263,695 (GRCm39) |
|
probably null |
Het |
| Cep170 |
A |
T |
1: 176,607,960 (GRCm39) |
D165E |
possibly damaging |
Het |
| Cfap46 |
CCTTCTTCT |
CCTTCT |
7: 139,218,816 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
A |
G |
14: 75,957,152 (GRCm39) |
L627P |
probably damaging |
Het |
| Col23a1 |
C |
T |
11: 51,464,995 (GRCm39) |
L453F |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,633,657 (GRCm39) |
Q351L |
probably benign |
Het |
| Ddx4 |
T |
G |
13: 112,772,557 (GRCm39) |
K77N |
probably benign |
Het |
| Ddx4 |
C |
A |
13: 112,772,556 (GRCm39) |
E78* |
probably null |
Het |
| Decr1 |
A |
T |
4: 15,931,179 (GRCm39) |
N92K |
probably benign |
Het |
| Dnm2 |
T |
C |
9: 21,411,571 (GRCm39) |
L600P |
probably damaging |
Het |
| Ece2 |
A |
C |
16: 20,457,932 (GRCm39) |
N356H |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,317,734 (GRCm39) |
I130N |
possibly damaging |
Het |
| Fat2 |
G |
A |
11: 55,187,097 (GRCm39) |
R1250C |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,505 (GRCm39) |
V1968D |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,923,987 (GRCm39) |
K82E |
probably damaging |
Het |
| Gm5431 |
A |
G |
11: 48,785,826 (GRCm39) |
V183A |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,735,984 (GRCm39) |
S1744P |
possibly damaging |
Het |
| Hnrnpa3 |
C |
G |
2: 75,492,914 (GRCm39) |
Q213E |
possibly damaging |
Het |
| Hspa1a |
A |
G |
17: 35,189,526 (GRCm39) |
F459S |
probably damaging |
Het |
| Ice1 |
A |
G |
13: 70,751,283 (GRCm39) |
L1601P |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,323 (GRCm39) |
D102V |
probably damaging |
Het |
| Kansl1 |
G |
A |
11: 104,248,352 (GRCm39) |
T534I |
probably benign |
Het |
| Lpin2 |
T |
A |
17: 71,538,264 (GRCm39) |
S303R |
probably damaging |
Het |
| Lrpprc |
T |
A |
17: 85,048,065 (GRCm39) |
I845F |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,749,593 (GRCm39) |
T4259A |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,863,339 (GRCm39) |
S1197G |
probably benign |
Het |
| Mtss1 |
A |
G |
15: 58,815,568 (GRCm39) |
I664T |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,192,793 (GRCm39) |
E1528G |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,152,319 (GRCm39) |
E69V |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,513,203 (GRCm39) |
D627V |
probably benign |
Het |
| Myom3 |
A |
G |
4: 135,528,314 (GRCm39) |
N1053S |
probably benign |
Het |
| Or10a4 |
G |
A |
7: 106,697,464 (GRCm39) |
R264H |
possibly damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,145 (GRCm39) |
S308T |
probably benign |
Het |
| Or6z3 |
T |
C |
7: 6,463,547 (GRCm39) |
V13A |
probably benign |
Het |
| Phactr1 |
T |
A |
13: 43,248,247 (GRCm39) |
S399T |
probably benign |
Het |
| Ppp1r13b |
A |
G |
12: 111,802,160 (GRCm39) |
S278P |
probably benign |
Het |
| Prol1 |
A |
G |
5: 88,475,736 (GRCm39) |
Y42C |
probably damaging |
Het |
| Pum2 |
A |
G |
12: 8,798,205 (GRCm39) |
E906G |
probably damaging |
Het |
| Pwwp3a |
T |
A |
10: 80,068,848 (GRCm39) |
C331S |
probably benign |
Het |
| Rbp2 |
G |
T |
9: 98,372,700 (GRCm39) |
S13I |
probably benign |
Het |
| Rbp4 |
G |
A |
19: 38,113,428 (GRCm39) |
T30M |
probably benign |
Het |
| Selenbp1 |
T |
C |
3: 94,851,157 (GRCm39) |
L351P |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 33,156,255 (GRCm39) |
F115S |
probably damaging |
Het |
| Tigd3 |
A |
T |
19: 5,942,870 (GRCm39) |
Y87N |
probably damaging |
Het |
| Tigd5 |
T |
A |
15: 75,782,871 (GRCm39) |
L411H |
probably damaging |
Het |
| Ttc3 |
T |
C |
16: 94,258,272 (GRCm39) |
|
probably null |
Het |
| Uhmk1 |
T |
C |
1: 170,027,449 (GRCm39) |
Q416R |
probably damaging |
Het |
| Zfand4 |
T |
C |
6: 116,250,575 (GRCm39) |
F2L |
probably damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,020 (GRCm39) |
T3153M |
possibly damaging |
Het |
| Zfp697 |
T |
G |
3: 98,334,855 (GRCm39) |
C207G |
possibly damaging |
Het |
| Zfp935 |
T |
C |
13: 62,602,685 (GRCm39) |
T172A |
probably benign |
Het |
| Znrf3 |
G |
T |
11: 5,230,865 (GRCm39) |
L883I |
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 |
|
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'- AGGATATTGGTCCCTGGTACG -3'
(R):5'- ATTAGGGGTCCCTCTGAGCATG -3'
Sequencing Primer
(F):5'- CTGGTACGCTGGCGACG -3'
(R):5'- GTTAAATTGAGGTATCAGCCATCGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation