Incidental Mutation 'R5296:Plch2'
| ID |
405403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Plch2
|
| Ensembl Gene |
ENSMUSG00000029055 |
| Gene Name |
phospholipase C, eta 2 |
| Synonyms |
Plcl4, A930027K05Rik, PLCeta2 |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154983115-155056784 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 154989999 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141152
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105631]
[ENSMUST00000135665]
[ENSMUST00000139976]
[ENSMUST00000176194]
[ENSMUST00000186598]
|
| AlphaFold |
A2AP18 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000105631
AA Change: S829*
|
| SMART Domains |
Protein: ENSMUSP00000101256
Gene: ENSMUSG00000029055
AA Change: S829*
| 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: ENSMUST00000124517
|
| SMART Domains |
Protein: ENSMUSP00000122139
Gene: ENSMUSG00000029055
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
1 |
77 |
1.58e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127661
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000135665
AA Change: S724*
|
| SMART Domains |
Protein: ENSMUSP00000118292
Gene: ENSMUSG00000029055
AA Change: S724*
| 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
AA Change: S829*
|
| SMART Domains |
Protein: ENSMUSP00000122704
Gene: ENSMUSG00000029055
AA Change: S829*
| 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: ENSMUST00000175982
AA Change: S577*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000176194
AA Change: S728*
|
| SMART Domains |
Protein: ENSMUSP00000134750
Gene: ENSMUSG00000029055
AA Change: S728*
| 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 |
noncoding transcript
Transcript: ENSMUST00000176620
|
| Predicted Effect |
probably null
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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apobr |
A |
C |
7: 126,588,024 (GRCm38) |
D89A |
probably damaging |
Het |
| Bhlhe41 |
C |
T |
6: 145,862,968 (GRCm38) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,095,785 (GRCm38) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,289,870 (GRCm38) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,924,937 (GRCm38) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,673,196 (GRCm38) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,684,765 (GRCm38) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,883,416 (GRCm38) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 77,904,650 (GRCm38) |
H55Q |
probably benign |
Het |
| Flad1 |
T |
C |
3: 89,411,196 (GRCm38) |
T17A |
probably damaging |
Het |
| Fzd2 |
C |
T |
11: 102,606,155 (GRCm38) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,130,061 (GRCm38) |
W1099L |
probably damaging |
Het |
| Gm8979 |
A |
T |
7: 106,081,848 (GRCm38) |
|
noncoding transcript |
Het |
| Gm9892 |
T |
C |
8: 52,196,929 (GRCm38) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 181,255,986 (GRCm38) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,929,928 (GRCm38) |
E55G |
probably damaging |
Het |
| Hltf |
T |
C |
3: 20,108,112 (GRCm38) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,241,939 (GRCm38) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,609,615 (GRCm38) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,436,127 (GRCm38) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 180,193,801 (GRCm38) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,724,582 (GRCm38) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,315,588 (GRCm38) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,774,482 (GRCm38) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,991,738 (GRCm38) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,196,323 (GRCm38) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 85,355,431 (GRCm38) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,333,388 (GRCm38) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,605,745 (GRCm38) |
S2G |
unknown |
Het |
| Olfr1269 |
A |
T |
2: 90,118,699 (GRCm38) |
W300R |
probably damaging |
Het |
| Olfr136 |
C |
T |
17: 38,335,456 (GRCm38) |
Q100* |
probably null |
Het |
| Olfr419 |
G |
T |
1: 174,250,756 (GRCm38) |
T57K |
possibly damaging |
Het |
| Olfr908 |
T |
C |
9: 38,516,116 (GRCm38) |
F28S |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,576,074 (GRCm38) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,817,118 (GRCm38) |
T1539I |
possibly damaging |
Het |
| Pygm |
G |
A |
19: 6,384,579 (GRCm38) |
R34H |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,021,104 (GRCm38) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,485,908 (GRCm38) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,026,731 (GRCm38) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,796,907 (GRCm38) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,127,091 (GRCm38) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,646,185 (GRCm38) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,860,646 (GRCm38) |
T526M |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,587,510 (GRCm38) |
T906K |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,406,983 (GRCm38) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,520,440 (GRCm38) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 99,078,817 (GRCm38) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,401,355 (GRCm38) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 150,999,051 (GRCm38) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,554,341 (GRCm38) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 85,137,022 (GRCm38) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,413 (GRCm38) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,912,188 (GRCm38) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,738,530 (GRCm38) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 71,914,360 (GRCm38) |
F344I |
probably damaging |
Het |
|
| Other mutations in Plch2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Plch2
|
APN |
4 |
155,006,642 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02024:Plch2
|
APN |
4 |
155,043,138 (GRCm38) |
intron |
probably benign |
|
|
IGL02580:Plch2
|
APN |
4 |
154,984,764 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL03370:Plch2
|
APN |
4 |
154,986,914 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL03407:Plch2
|
APN |
4 |
154,989,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
tolerant
|
UTSW |
4 |
154,984,635 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4418001:Plch2
|
UTSW |
4 |
154,989,503 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Plch2
|
UTSW |
4 |
155,009,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0117:Plch2
|
UTSW |
4 |
154,985,358 (GRCm38) |
unclassified |
probably benign |
|
|
R0347:Plch2
|
UTSW |
4 |
154,986,721 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0361:Plch2
|
UTSW |
4 |
155,006,711 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0413:Plch2
|
UTSW |
4 |
155,006,916 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0487:Plch2
|
UTSW |
4 |
155,009,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0514:Plch2
|
UTSW |
4 |
154,998,886 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0734:Plch2
|
UTSW |
4 |
154,996,283 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0766:Plch2
|
UTSW |
4 |
154,989,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1306:Plch2
|
UTSW |
4 |
155,007,140 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1312:Plch2
|
UTSW |
4 |
154,989,799 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Plch2
|
UTSW |
4 |
154,983,732 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1467:Plch2
|
UTSW |
4 |
154,983,732 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1602:Plch2
|
UTSW |
4 |
154,984,450 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1717:Plch2
|
UTSW |
4 |
154,998,272 (GRCm38) |
missense |
probably benign |
|
|
R1731:Plch2
|
UTSW |
4 |
155,006,994 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1769:Plch2
|
UTSW |
4 |
155,000,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1875:Plch2
|
UTSW |
4 |
154,998,508 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1974:Plch2
|
UTSW |
4 |
154,984,953 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2031:Plch2
|
UTSW |
4 |
155,043,027 (GRCm38) |
intron |
probably benign |
|
|
R2050:Plch2
|
UTSW |
4 |
155,000,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2061:Plch2
|
UTSW |
4 |
155,042,841 (GRCm38) |
intron |
probably benign |
|
|
R2073:Plch2
|
UTSW |
4 |
154,989,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2075:Plch2
|
UTSW |
4 |
154,989,909 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2109:Plch2
|
UTSW |
4 |
154,984,597 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2126:Plch2
|
UTSW |
4 |
154,998,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2265:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2266:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2269:Plch2
|
UTSW |
4 |
154,993,004 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2280:Plch2
|
UTSW |
4 |
154,984,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2281:Plch2
|
UTSW |
4 |
154,984,309 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2432:Plch2
|
UTSW |
4 |
154,986,164 (GRCm38) |
makesense |
probably null |
|
|
R2971:Plch2
|
UTSW |
4 |
154,990,767 (GRCm38) |
missense |
probably benign |
0.29 |
|
R3437:Plch2
|
UTSW |
4 |
154,991,013 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3980:Plch2
|
UTSW |
4 |
154,984,798 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4757:Plch2
|
UTSW |
4 |
154,996,233 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4827:Plch2
|
UTSW |
4 |
154,991,113 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4828:Plch2
|
UTSW |
4 |
154,984,635 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4869:Plch2
|
UTSW |
4 |
154,989,428 (GRCm38) |
missense |
probably benign |
0.28 |
|
R5020:Plch2
|
UTSW |
4 |
155,007,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5050:Plch2
|
UTSW |
4 |
155,043,309 (GRCm38) |
intron |
probably benign |
|
|
R5126:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5237:Plch2
|
UTSW |
4 |
155,010,794 (GRCm38) |
missense |
probably benign |
|
|
R5274:Plch2
|
UTSW |
4 |
154,998,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5324:Plch2
|
UTSW |
4 |
154,984,534 (GRCm38) |
missense |
probably benign |
|
|
R5475:Plch2
|
UTSW |
4 |
155,000,137 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5494:Plch2
|
UTSW |
4 |
154,991,122 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5811:Plch2
|
UTSW |
4 |
154,992,567 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6083:Plch2
|
UTSW |
4 |
155,000,818 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6092:Plch2
|
UTSW |
4 |
154,984,372 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6253:Plch2
|
UTSW |
4 |
155,007,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6456:Plch2
|
UTSW |
4 |
154,993,002 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7038:Plch2
|
UTSW |
4 |
154,990,032 (GRCm38) |
splice site |
probably null |
|
|
R7084:Plch2
|
UTSW |
4 |
154,986,991 (GRCm38) |
missense |
probably benign |
0.31 |
|
R7210:Plch2
|
UTSW |
4 |
155,009,086 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7216:Plch2
|
UTSW |
4 |
154,984,228 (GRCm38) |
missense |
probably benign |
|
|
R7264:Plch2
|
UTSW |
4 |
154,998,967 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7291:Plch2
|
UTSW |
4 |
154,998,472 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7423:Plch2
|
UTSW |
4 |
154,983,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7436:Plch2
|
UTSW |
4 |
154,984,096 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7438:Plch2
|
UTSW |
4 |
155,000,460 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7594:Plch2
|
UTSW |
4 |
155,007,027 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7663:Plch2
|
UTSW |
4 |
154,991,162 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7698:Plch2
|
UTSW |
4 |
155,002,787 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7844:Plch2
|
UTSW |
4 |
154,989,465 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7939:Plch2
|
UTSW |
4 |
155,002,778 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R8003:Plch2
|
UTSW |
4 |
155,054,523 (GRCm38) |
missense |
unknown |
|
|
R8007:Plch2
|
UTSW |
4 |
155,002,831 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8281:Plch2
|
UTSW |
4 |
155,006,973 (GRCm38) |
missense |
probably benign |
0.07 |
|
R8434:Plch2
|
UTSW |
4 |
154,989,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8504:Plch2
|
UTSW |
4 |
154,984,395 (GRCm38) |
missense |
probably benign |
0.31 |
|
R8516:Plch2
|
UTSW |
4 |
154,986,307 (GRCm38) |
missense |
probably benign |
|
|
R8558:Plch2
|
UTSW |
4 |
154,998,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8722:Plch2
|
UTSW |
4 |
154,985,403 (GRCm38) |
unclassified |
probably benign |
|
|
R8768:Plch2
|
UTSW |
4 |
154,998,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8787:Plch2
|
UTSW |
4 |
154,986,418 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8826:Plch2
|
UTSW |
4 |
154,986,683 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8955:Plch2
|
UTSW |
4 |
154,992,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9032:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9085:Plch2
|
UTSW |
4 |
155,000,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9423:Plch2
|
UTSW |
4 |
154,986,592 (GRCm38) |
missense |
|
|
|
R9649:Plch2
|
UTSW |
4 |
154,984,059 (GRCm38) |
missense |
probably benign |
|
|
R9652:Plch2
|
UTSW |
4 |
154,998,485 (GRCm38) |
missense |
probably benign |
|
|
R9725:Plch2
|
UTSW |
4 |
155,000,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9742:Plch2
|
UTSW |
4 |
154,998,455 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9789:Plch2
|
UTSW |
4 |
155,010,865 (GRCm38) |
critical splice donor site |
probably null |
|
|
RF014:Plch2
|
UTSW |
4 |
155,007,120 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGATGATCTAGAGACAGGGTG -3'
(R):5'- ATGGTACGCCCTTGACATTAGC -3'
Sequencing Primer
(F):5'- TGAGGGGTGGCACTGGAATC -3'
(R):5'- TTGACATTAGCAGCCTGACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation