Incidental Mutation 'R7405:Prickle2'
ID |
574501 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prickle2
|
Ensembl Gene |
ENSMUSG00000030020 |
Gene Name |
prickle planar cell polarity protein 2 |
Synonyms |
mpk2, 6230400G14Rik, Pk2, 6720451F06Rik |
MMRRC Submission |
045376-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.530)
|
Stock # |
R7405 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
92347889-92683136 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92435524 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 82
(S82P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032093]
[ENSMUST00000113445]
[ENSMUST00000113446]
[ENSMUST00000113447]
|
AlphaFold |
Q80Y24 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032093
AA Change: S82P
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000032093 Gene: ENSMUSG00000030020 AA Change: S82P
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
15 |
N/A |
INTRINSIC |
Pfam:PET
|
76 |
176 |
1.2e-45 |
PFAM |
LIM
|
185 |
242 |
3.05e-10 |
SMART |
LIM
|
250 |
302 |
5.43e-16 |
SMART |
LIM
|
310 |
365 |
2.92e-7 |
SMART |
low complexity region
|
465 |
477 |
N/A |
INTRINSIC |
low complexity region
|
534 |
546 |
N/A |
INTRINSIC |
low complexity region
|
725 |
753 |
N/A |
INTRINSIC |
low complexity region
|
832 |
841 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113445
AA Change: S26P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109072 Gene: ENSMUSG00000030020 AA Change: S26P
Domain | Start | End | E-Value | Type |
Pfam:PET
|
17 |
122 |
8.9e-47 |
PFAM |
LIM
|
129 |
186 |
3.05e-10 |
SMART |
LIM
|
194 |
246 |
5.43e-16 |
SMART |
LIM
|
254 |
309 |
2.92e-7 |
SMART |
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
low complexity region
|
478 |
490 |
N/A |
INTRINSIC |
low complexity region
|
669 |
697 |
N/A |
INTRINSIC |
low complexity region
|
776 |
785 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113446
AA Change: S26P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109073 Gene: ENSMUSG00000030020 AA Change: S26P
Domain | Start | End | E-Value | Type |
Pfam:PET
|
17 |
122 |
8.9e-47 |
PFAM |
LIM
|
129 |
186 |
3.05e-10 |
SMART |
LIM
|
194 |
246 |
5.43e-16 |
SMART |
LIM
|
254 |
309 |
2.92e-7 |
SMART |
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
low complexity region
|
478 |
490 |
N/A |
INTRINSIC |
low complexity region
|
669 |
697 |
N/A |
INTRINSIC |
low complexity region
|
776 |
785 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113447
AA Change: S26P
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000109074 Gene: ENSMUSG00000030020 AA Change: S26P
Domain | Start | End | E-Value | Type |
Pfam:PET
|
17 |
122 |
8.9e-47 |
PFAM |
LIM
|
129 |
186 |
3.05e-10 |
SMART |
LIM
|
194 |
246 |
5.43e-16 |
SMART |
LIM
|
254 |
309 |
2.92e-7 |
SMART |
low complexity region
|
409 |
421 |
N/A |
INTRINSIC |
low complexity region
|
478 |
490 |
N/A |
INTRINSIC |
low complexity region
|
669 |
697 |
N/A |
INTRINSIC |
low complexity region
|
776 |
785 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive or PTZ-induced seizures. Mice heterozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive seizures. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
G |
T |
17: 9,220,649 (GRCm39) |
V383L |
probably damaging |
Het |
4930507D05Rik |
C |
A |
10: 62,285,563 (GRCm39) |
H96N |
unknown |
Het |
5730480H06Rik |
T |
C |
5: 48,545,458 (GRCm39) |
I235T |
possibly damaging |
Het |
Abcb11 |
A |
G |
2: 69,117,963 (GRCm39) |
Y472H |
probably damaging |
Het |
Adam39 |
A |
T |
8: 41,277,659 (GRCm39) |
I17L |
probably benign |
Het |
Aire |
T |
C |
10: 77,870,447 (GRCm39) |
H458R |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,577,734 (GRCm39) |
D31G |
probably benign |
Het |
Atad2b |
T |
A |
12: 4,993,232 (GRCm39) |
H250Q |
probably benign |
Het |
Bnip5 |
G |
A |
17: 29,124,298 (GRCm39) |
R335W |
probably damaging |
Het |
Borcs5 |
C |
A |
6: 134,662,945 (GRCm39) |
T74N |
probably benign |
Het |
Btbd16 |
C |
T |
7: 130,407,586 (GRCm39) |
T292I |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
Cfap107 |
T |
C |
4: 144,146,323 (GRCm39) |
N110S |
probably damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,921 (GRCm39) |
F462S |
possibly damaging |
Het |
Cyp4f39 |
A |
G |
17: 32,700,789 (GRCm39) |
S153G |
probably benign |
Het |
Ddo |
T |
C |
10: 40,523,993 (GRCm39) |
C328R |
possibly damaging |
Het |
Ddr1 |
A |
G |
17: 36,000,992 (GRCm39) |
V251A |
probably damaging |
Het |
Dis3l |
A |
G |
9: 64,221,986 (GRCm39) |
F475L |
probably damaging |
Het |
Dkk4 |
G |
A |
8: 23,115,859 (GRCm39) |
V99M |
probably benign |
Het |
Dync1h1 |
C |
T |
12: 110,600,654 (GRCm39) |
A1938V |
probably damaging |
Het |
Ecel1 |
A |
T |
1: 87,081,238 (GRCm39) |
|
probably null |
Het |
Fbxo7 |
T |
A |
10: 85,880,445 (GRCm39) |
Y377N |
probably damaging |
Het |
Fbxw24 |
T |
C |
9: 109,436,136 (GRCm39) |
I299V |
possibly damaging |
Het |
Fkbp10 |
C |
T |
11: 100,306,707 (GRCm39) |
A33V |
probably damaging |
Het |
Gabra1 |
T |
C |
11: 42,045,850 (GRCm39) |
T87A |
probably damaging |
Het |
Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
Golga3 |
A |
T |
5: 110,356,312 (GRCm39) |
I1000F |
probably damaging |
Het |
Grid2ip |
T |
C |
5: 143,366,199 (GRCm39) |
I563T |
probably benign |
Het |
Gsx1 |
T |
C |
5: 147,125,943 (GRCm39) |
S82P |
possibly damaging |
Het |
Heg1 |
A |
G |
16: 33,583,819 (GRCm39) |
K34E |
possibly damaging |
Het |
Kank1 |
T |
A |
19: 25,387,683 (GRCm39) |
L452* |
probably null |
Het |
Lce1k |
A |
T |
3: 92,714,181 (GRCm39) |
M1K |
probably null |
Het |
Lcmt2 |
A |
G |
2: 120,969,868 (GRCm39) |
I185T |
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,417,620 (GRCm39) |
D1046G |
possibly damaging |
Het |
Lrrc37 |
A |
T |
11: 103,505,987 (GRCm39) |
Y1994N |
probably benign |
Het |
Mast3 |
A |
T |
8: 71,238,815 (GRCm39) |
D496E |
probably damaging |
Het |
Mst1r |
C |
T |
9: 107,792,321 (GRCm39) |
S925F |
possibly damaging |
Het |
Mterf2 |
C |
T |
10: 84,956,360 (GRCm39) |
G88D |
probably damaging |
Het |
Mthfd1 |
T |
C |
12: 76,358,648 (GRCm39) |
V783A |
probably damaging |
Het |
Mybpc2 |
A |
T |
7: 44,156,618 (GRCm39) |
W778R |
probably damaging |
Het |
Nbea |
A |
G |
3: 55,712,687 (GRCm39) |
L2130P |
possibly damaging |
Het |
Ndst4 |
A |
G |
3: 125,476,865 (GRCm39) |
N30S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,162,253 (GRCm39) |
V299A |
possibly damaging |
Het |
Nup107 |
T |
C |
10: 117,606,320 (GRCm39) |
D474G |
probably benign |
Het |
Or10ag56 |
A |
C |
2: 87,139,339 (GRCm39) |
I89L |
probably benign |
Het |
Or10w1 |
T |
C |
19: 13,632,246 (GRCm39) |
V151A |
probably benign |
Het |
Or2w25 |
T |
A |
11: 59,504,899 (GRCm39) |
F370I |
possibly damaging |
Het |
Or7a42 |
T |
C |
10: 78,791,531 (GRCm39) |
V164A |
probably benign |
Het |
Pgap2 |
T |
C |
7: 101,880,595 (GRCm39) |
V41A |
probably benign |
Het |
Plekhh1 |
C |
T |
12: 79,101,821 (GRCm39) |
T297I |
probably benign |
Het |
Plxna4 |
A |
T |
6: 32,173,254 (GRCm39) |
Y1226N |
probably benign |
Het |
Polr3b |
A |
G |
10: 84,520,043 (GRCm39) |
D653G |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,104,486 (GRCm39) |
F289L |
possibly damaging |
Het |
Ptger2 |
T |
A |
14: 45,226,531 (GRCm39) |
V37D |
probably damaging |
Het |
Rasa2 |
G |
A |
9: 96,448,080 (GRCm39) |
P526S |
probably benign |
Het |
Rbm47 |
A |
T |
5: 66,183,838 (GRCm39) |
I255N |
probably damaging |
Het |
Sez6 |
A |
T |
11: 77,853,717 (GRCm39) |
T296S |
probably benign |
Het |
Slc2a9 |
T |
A |
5: 38,549,167 (GRCm39) |
I316F |
probably damaging |
Het |
Slc41a1 |
T |
A |
1: 131,766,884 (GRCm39) |
V134D |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,604,161 (GRCm39) |
S2T |
probably benign |
Het |
Slc9a4 |
C |
T |
1: 40,640,086 (GRCm39) |
R293C |
probably damaging |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Suco |
A |
G |
1: 161,655,783 (GRCm39) |
F1039L |
possibly damaging |
Het |
Sycp1 |
A |
G |
3: 102,832,543 (GRCm39) |
Y208H |
possibly damaging |
Het |
Tpr |
T |
C |
1: 150,317,878 (GRCm39) |
S2129P |
probably benign |
Het |
Trim34b |
T |
A |
7: 103,985,690 (GRCm39) |
S442T |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,573,690 (GRCm39) |
Y25734* |
probably null |
Het |
Uchl5 |
C |
T |
1: 143,675,752 (GRCm39) |
Q276* |
probably null |
Het |
Wrn |
C |
G |
8: 33,738,994 (GRCm39) |
W1278S |
probably benign |
Het |
Yeats2 |
T |
A |
16: 20,041,663 (GRCm39) |
D1184E |
probably damaging |
Het |
Zfat |
G |
A |
15: 68,056,334 (GRCm39) |
R241W |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,477,968 (GRCm39) |
Y48* |
probably null |
Het |
Zfp998 |
T |
C |
13: 66,579,118 (GRCm39) |
Q455R |
unknown |
Het |
|
Other mutations in Prickle2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02962:Prickle2
|
APN |
6 |
92,353,403 (GRCm39) |
missense |
probably benign |
0.00 |
R0028:Prickle2
|
UTSW |
6 |
92,399,323 (GRCm39) |
missense |
probably benign |
0.12 |
R0122:Prickle2
|
UTSW |
6 |
92,388,326 (GRCm39) |
nonsense |
probably null |
|
R0555:Prickle2
|
UTSW |
6 |
92,435,546 (GRCm39) |
missense |
probably benign |
0.02 |
R0940:Prickle2
|
UTSW |
6 |
92,387,984 (GRCm39) |
missense |
probably benign |
0.02 |
R1394:Prickle2
|
UTSW |
6 |
92,353,363 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1470:Prickle2
|
UTSW |
6 |
92,435,583 (GRCm39) |
missense |
probably damaging |
0.96 |
R1470:Prickle2
|
UTSW |
6 |
92,435,583 (GRCm39) |
missense |
probably damaging |
0.96 |
R1599:Prickle2
|
UTSW |
6 |
92,387,855 (GRCm39) |
missense |
probably benign |
|
R1745:Prickle2
|
UTSW |
6 |
92,353,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R1801:Prickle2
|
UTSW |
6 |
92,393,885 (GRCm39) |
missense |
probably damaging |
0.98 |
R1985:Prickle2
|
UTSW |
6 |
92,388,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R2085:Prickle2
|
UTSW |
6 |
92,353,345 (GRCm39) |
missense |
probably damaging |
0.96 |
R2147:Prickle2
|
UTSW |
6 |
92,402,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R2148:Prickle2
|
UTSW |
6 |
92,402,652 (GRCm39) |
missense |
probably damaging |
0.99 |
R2571:Prickle2
|
UTSW |
6 |
92,682,381 (GRCm39) |
missense |
probably benign |
0.09 |
R3547:Prickle2
|
UTSW |
6 |
92,388,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4356:Prickle2
|
UTSW |
6 |
92,388,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Prickle2
|
UTSW |
6 |
92,399,323 (GRCm39) |
missense |
probably benign |
0.12 |
R4896:Prickle2
|
UTSW |
6 |
92,393,736 (GRCm39) |
missense |
probably benign |
0.26 |
R5004:Prickle2
|
UTSW |
6 |
92,393,736 (GRCm39) |
missense |
probably benign |
0.26 |
R5045:Prickle2
|
UTSW |
6 |
92,353,375 (GRCm39) |
missense |
probably damaging |
0.96 |
R5219:Prickle2
|
UTSW |
6 |
92,353,511 (GRCm39) |
missense |
probably benign |
|
R5247:Prickle2
|
UTSW |
6 |
92,352,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R5280:Prickle2
|
UTSW |
6 |
92,353,191 (GRCm39) |
missense |
probably damaging |
1.00 |
R5334:Prickle2
|
UTSW |
6 |
92,402,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R5780:Prickle2
|
UTSW |
6 |
92,435,593 (GRCm39) |
missense |
probably benign |
0.06 |
R5960:Prickle2
|
UTSW |
6 |
92,353,286 (GRCm39) |
missense |
probably benign |
0.08 |
R6084:Prickle2
|
UTSW |
6 |
92,393,829 (GRCm39) |
nonsense |
probably null |
|
R6362:Prickle2
|
UTSW |
6 |
92,435,596 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6368:Prickle2
|
UTSW |
6 |
92,397,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R6852:Prickle2
|
UTSW |
6 |
92,353,525 (GRCm39) |
missense |
probably benign |
|
R7041:Prickle2
|
UTSW |
6 |
92,353,286 (GRCm39) |
missense |
probably benign |
0.08 |
R7203:Prickle2
|
UTSW |
6 |
92,387,959 (GRCm39) |
missense |
possibly damaging |
0.61 |
R7352:Prickle2
|
UTSW |
6 |
92,387,871 (GRCm39) |
missense |
probably benign |
0.00 |
R7510:Prickle2
|
UTSW |
6 |
92,353,451 (GRCm39) |
missense |
possibly damaging |
0.58 |
R7562:Prickle2
|
UTSW |
6 |
92,352,929 (GRCm39) |
makesense |
probably null |
|
R7578:Prickle2
|
UTSW |
6 |
92,388,271 (GRCm39) |
missense |
probably benign |
0.32 |
R7614:Prickle2
|
UTSW |
6 |
92,402,631 (GRCm39) |
missense |
possibly damaging |
0.46 |
R7732:Prickle2
|
UTSW |
6 |
92,388,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R7948:Prickle2
|
UTSW |
6 |
92,393,903 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7984:Prickle2
|
UTSW |
6 |
92,387,855 (GRCm39) |
missense |
probably benign |
|
R8350:Prickle2
|
UTSW |
6 |
92,353,483 (GRCm39) |
missense |
probably benign |
|
R8404:Prickle2
|
UTSW |
6 |
92,397,302 (GRCm39) |
missense |
probably damaging |
0.96 |
R8988:Prickle2
|
UTSW |
6 |
92,435,620 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9184:Prickle2
|
UTSW |
6 |
92,388,505 (GRCm39) |
missense |
possibly damaging |
0.46 |
R9348:Prickle2
|
UTSW |
6 |
92,397,243 (GRCm39) |
missense |
probably benign |
0.00 |
R9532:Prickle2
|
UTSW |
6 |
92,683,096 (GRCm39) |
missense |
probably benign |
0.00 |
R9755:Prickle2
|
UTSW |
6 |
92,399,319 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Prickle2
|
UTSW |
6 |
92,393,834 (GRCm39) |
missense |
probably damaging |
0.98 |
X0026:Prickle2
|
UTSW |
6 |
92,388,407 (GRCm39) |
nonsense |
probably null |
|
X0066:Prickle2
|
UTSW |
6 |
92,353,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TATTGCCACACAACCCTGAGTC -3'
(R):5'- TTGGAATCCAGGACGGTGAC -3'
Sequencing Primer
(F):5'- TGAGTCAGCAGAGCCACCTTTC -3'
(R):5'- TCTAGGAAGATCTGCCTGC -3'
|
Posted On |
2019-09-13 |