Incidental Mutation 'R3547:Prickle2'
| ID |
268250 |
| 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 |
040666-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R3547 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
92347889-92683136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92388118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 428
(Y428C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109074
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032093]
[ENSMUST00000113445]
[ENSMUST00000113446]
[ENSMUST00000113447]
|
| AlphaFold |
Q80Y24 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032093
AA Change: Y484C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: Y484C
| 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: Y428C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: Y428C
| 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: Y428C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: Y428C
| 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: Y428C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: Y428C
| 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 |
|
| Meta Mutation Damage Score |
0.0900 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg5 |
A |
G |
3: 54,656,736 (GRCm39) |
R316G |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,484,602 (GRCm39) |
N1121D |
possibly damaging |
Het |
| Antxr2 |
A |
T |
5: 98,125,516 (GRCm39) |
I247N |
probably benign |
Het |
| Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
| Arl9 |
A |
G |
5: 77,158,326 (GRCm39) |
D136G |
probably benign |
Het |
| Atxn1l |
A |
G |
8: 110,458,981 (GRCm39) |
L427P |
possibly damaging |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Clec4a3 |
A |
G |
6: 122,941,239 (GRCm39) |
E78G |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,769,141 (GRCm39) |
L532P |
probably damaging |
Het |
| Col12a1 |
T |
G |
9: 79,540,698 (GRCm39) |
K2429T |
probably damaging |
Het |
| Col20a1 |
G |
T |
2: 180,636,704 (GRCm39) |
E228D |
probably damaging |
Het |
| Cx3cl1 |
A |
C |
8: 95,504,752 (GRCm39) |
E56A |
possibly damaging |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Fhit |
T |
C |
14: 9,870,095 (GRCm38) |
T125A |
probably benign |
Het |
| Gdi1 |
T |
A |
X: 73,351,414 (GRCm39) |
F175L |
possibly damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Gpr149 |
A |
T |
3: 62,502,549 (GRCm39) |
C436S |
probably benign |
Het |
| Grid2 |
T |
C |
6: 64,297,005 (GRCm39) |
V456A |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,790,599 (GRCm39) |
T56K |
possibly damaging |
Het |
| Hydin |
G |
A |
8: 111,308,699 (GRCm39) |
G3995D |
possibly damaging |
Het |
| Igkv4-50 |
G |
A |
6: 69,677,765 (GRCm39) |
T113I |
probably benign |
Het |
| Igkv5-43 |
A |
G |
6: 69,753,240 (GRCm39) |
|
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,237,962 (GRCm39) |
H740Y |
probably benign |
Het |
| Igsf10 |
C |
A |
3: 59,243,935 (GRCm39) |
R133L |
probably damaging |
Het |
| Lcmt1 |
A |
G |
7: 122,999,702 (GRCm39) |
E94G |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Ly6m |
C |
A |
15: 74,753,463 (GRCm39) |
A18S |
probably null |
Het |
| Map3k3 |
C |
T |
11: 106,033,379 (GRCm39) |
Q211* |
probably null |
Het |
| Map4 |
T |
A |
9: 109,881,266 (GRCm39) |
F43L |
possibly damaging |
Het |
| Mcf2 |
T |
C |
X: 59,180,806 (GRCm39) |
K74R |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,700,538 (GRCm39) |
V460I |
possibly damaging |
Het |
| Nat1 |
A |
G |
8: 67,943,684 (GRCm39) |
D23G |
possibly damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Ncf1 |
T |
A |
5: 134,255,463 (GRCm39) |
K143* |
probably null |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or52b3 |
A |
G |
7: 102,203,677 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pi4k2a |
C |
T |
19: 42,078,987 (GRCm39) |
P16L |
probably benign |
Het |
| Pitx3 |
T |
A |
19: 46,124,548 (GRCm39) |
Q273L |
possibly damaging |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,288,627 (GRCm39) |
K527E |
probably benign |
Het |
| Prune2 |
T |
A |
19: 17,101,712 (GRCm39) |
S2405R |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rnf167 |
T |
C |
11: 70,540,507 (GRCm39) |
I129T |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sfxn2 |
T |
C |
19: 46,578,635 (GRCm39) |
S217P |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Slc22a17 |
A |
G |
14: 55,144,694 (GRCm39) |
L573P |
probably damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,574 (GRCm39) |
Y181H |
probably damaging |
Het |
| Slc6a20a |
A |
G |
9: 123,489,567 (GRCm39) |
S159P |
probably damaging |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Thnsl1 |
T |
G |
2: 21,217,438 (GRCm39) |
D397E |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,419,573 (GRCm39) |
D1045G |
probably damaging |
Het |
| Ugt8a |
A |
T |
3: 125,661,031 (GRCm39) |
L487* |
probably null |
Het |
| Uprt |
T |
A |
X: 103,526,934 (GRCm39) |
L123H |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 12,994,629 (GRCm39) |
L940P |
probably benign |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Uty |
A |
C |
Y: 1,158,512 (GRCm39) |
D463E |
possibly damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
| Vps13d |
T |
G |
4: 144,801,545 (GRCm39) |
T3558P |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,055,445 (GRCm39) |
S253P |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,499,476 (GRCm39) |
S1265G |
probably benign |
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 |
|
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 |
|
R7405:Prickle2
|
UTSW |
6 |
92,435,524 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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'- GCCTCGGGTTTCATTAAAGC -3'
(R):5'- GAGTTCTAACCGGCTCTCAG -3'
Sequencing Primer
(F):5'- GGCTGGACATATCACTGTAGCTC -3'
(R):5'- TCTCAGCTGATGTGGACCC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation