Incidental Mutation 'R4301:Prickle1'
ID |
322428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prickle1
|
Ensembl Gene |
ENSMUSG00000036158 |
Gene Name |
prickle planar cell polarity protein 1 |
Synonyms |
1110058P22Rik, mpk1, Pk1, b2b019Clo |
MMRRC Submission |
041088-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4301 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
93396995-93493772 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93406517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 169
(I169V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104878
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048982]
[ENSMUST00000109255]
|
AlphaFold |
Q3U5C7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048982
AA Change: I169V
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049204 Gene: ENSMUSG00000036158 AA Change: I169V
Domain | Start | End | E-Value | Type |
Pfam:PET
|
16 |
116 |
2.2e-46 |
PFAM |
LIM
|
125 |
182 |
1.73e-9 |
SMART |
LIM
|
190 |
242 |
1.13e-13 |
SMART |
LIM
|
250 |
305 |
2.37e-7 |
SMART |
low complexity region
|
314 |
343 |
N/A |
INTRINSIC |
low complexity region
|
667 |
684 |
N/A |
INTRINSIC |
low complexity region
|
758 |
776 |
N/A |
INTRINSIC |
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109255
AA Change: I169V
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000104878 Gene: ENSMUSG00000036158 AA Change: I169V
Domain | Start | End | E-Value | Type |
Pfam:PET
|
13 |
118 |
3.7e-46 |
PFAM |
LIM
|
125 |
182 |
1.73e-9 |
SMART |
LIM
|
190 |
242 |
1.13e-13 |
SMART |
LIM
|
250 |
305 |
2.37e-7 |
SMART |
low complexity region
|
314 |
343 |
N/A |
INTRINSIC |
low complexity region
|
667 |
684 |
N/A |
INTRINSIC |
low complexity region
|
758 |
776 |
N/A |
INTRINSIC |
low complexity region
|
817 |
827 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2024 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (43/43) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009] PHENOTYPE: Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
T |
A |
16: 56,377,266 (GRCm39) |
V95D |
probably damaging |
Het |
Adamtsl2 |
A |
G |
2: 26,977,295 (GRCm39) |
D252G |
probably null |
Het |
Adgra3 |
T |
C |
5: 50,118,420 (GRCm39) |
R1043G |
possibly damaging |
Het |
Atxn7l1 |
A |
G |
12: 33,417,237 (GRCm39) |
D562G |
probably damaging |
Het |
Ccdc70 |
T |
C |
8: 22,463,228 (GRCm39) |
V6A |
possibly damaging |
Het |
Cdc25a |
T |
C |
9: 109,718,810 (GRCm39) |
V337A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
Crb1 |
A |
G |
1: 139,176,568 (GRCm39) |
S472P |
probably benign |
Het |
Fam193b |
G |
A |
13: 55,690,417 (GRCm39) |
R740* |
probably null |
Het |
Fer |
G |
T |
17: 64,385,905 (GRCm39) |
L292F |
probably damaging |
Het |
Gmppa |
G |
A |
1: 75,419,140 (GRCm39) |
R349H |
possibly damaging |
Het |
Hspa1a |
T |
C |
17: 35,189,482 (GRCm39) |
I474V |
probably benign |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lrrc30 |
A |
G |
17: 67,939,563 (GRCm39) |
S6P |
probably damaging |
Het |
Lzts3 |
A |
G |
2: 130,478,358 (GRCm39) |
S133P |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,216,169 (GRCm39) |
Y294H |
probably damaging |
Het |
Mtmr12 |
T |
A |
15: 12,236,106 (GRCm39) |
F122I |
possibly damaging |
Het |
Mypn |
A |
G |
10: 62,954,263 (GRCm39) |
Y124H |
probably damaging |
Het |
Nfat5 |
T |
C |
8: 108,082,327 (GRCm39) |
|
probably benign |
Het |
Npr2 |
T |
C |
4: 43,641,332 (GRCm39) |
|
probably null |
Het |
Or5a3 |
T |
C |
19: 12,400,081 (GRCm39) |
L136P |
probably damaging |
Het |
Pgm2 |
G |
A |
5: 64,261,140 (GRCm39) |
W51* |
probably null |
Het |
Phip |
G |
A |
9: 82,841,766 (GRCm39) |
R48* |
probably null |
Het |
Piezo2 |
T |
C |
18: 63,217,911 (GRCm39) |
T1075A |
probably damaging |
Het |
Ppat |
G |
T |
5: 77,076,348 (GRCm39) |
|
probably benign |
Het |
Ppp2r2b |
T |
A |
18: 43,031,811 (GRCm39) |
E23D |
probably null |
Het |
Rab37 |
T |
A |
11: 115,049,390 (GRCm39) |
D95E |
possibly damaging |
Het |
Sash1 |
A |
G |
10: 8,627,234 (GRCm39) |
V50A |
probably benign |
Het |
Siae |
C |
A |
9: 37,545,009 (GRCm39) |
Q335K |
possibly damaging |
Het |
Snx14 |
A |
T |
9: 88,292,676 (GRCm39) |
I217K |
probably damaging |
Het |
Son |
A |
G |
16: 91,455,299 (GRCm39) |
T1349A |
possibly damaging |
Het |
Sptb |
A |
G |
12: 76,659,471 (GRCm39) |
L1143S |
probably damaging |
Het |
Trim80 |
T |
C |
11: 115,335,939 (GRCm39) |
|
probably null |
Het |
Trpm3 |
T |
C |
19: 22,964,656 (GRCm39) |
S1374P |
probably benign |
Het |
Vldlr |
C |
A |
19: 27,215,802 (GRCm39) |
D266E |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,651,099 (GRCm39) |
H166R |
possibly damaging |
Het |
Zbtb10 |
A |
T |
3: 9,330,220 (GRCm39) |
Q526L |
probably damaging |
Het |
Zfr2 |
T |
C |
10: 81,078,018 (GRCm39) |
|
probably benign |
Het |
Zswim8 |
G |
A |
14: 20,763,977 (GRCm39) |
R449H |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,779,861 (GRCm39) |
V1878A |
probably damaging |
Het |
|
Other mutations in Prickle1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00578:Prickle1
|
APN |
15 |
93,398,662 (GRCm39) |
missense |
probably benign |
0.29 |
IGL01641:Prickle1
|
APN |
15 |
93,398,453 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01917:Prickle1
|
APN |
15 |
93,401,408 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02124:Prickle1
|
APN |
15 |
93,401,027 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02754:Prickle1
|
APN |
15 |
93,399,034 (GRCm39) |
missense |
possibly damaging |
0.94 |
P0028:Prickle1
|
UTSW |
15 |
93,398,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R0134:Prickle1
|
UTSW |
15 |
93,408,658 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0189:Prickle1
|
UTSW |
15 |
93,400,900 (GRCm39) |
nonsense |
probably null |
|
R0225:Prickle1
|
UTSW |
15 |
93,408,658 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0556:Prickle1
|
UTSW |
15 |
93,398,662 (GRCm39) |
missense |
probably benign |
0.29 |
R1144:Prickle1
|
UTSW |
15 |
93,410,342 (GRCm39) |
missense |
probably damaging |
0.99 |
R1440:Prickle1
|
UTSW |
15 |
93,402,955 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1458:Prickle1
|
UTSW |
15 |
93,398,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Prickle1
|
UTSW |
15 |
93,401,518 (GRCm39) |
missense |
probably damaging |
1.00 |
R2656:Prickle1
|
UTSW |
15 |
93,401,251 (GRCm39) |
missense |
probably benign |
0.32 |
R2864:Prickle1
|
UTSW |
15 |
93,407,159 (GRCm39) |
missense |
probably damaging |
0.99 |
R4912:Prickle1
|
UTSW |
15 |
93,398,429 (GRCm39) |
missense |
probably benign |
0.00 |
R5085:Prickle1
|
UTSW |
15 |
93,398,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R5773:Prickle1
|
UTSW |
15 |
93,406,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5836:Prickle1
|
UTSW |
15 |
93,400,898 (GRCm39) |
nonsense |
probably null |
|
R5902:Prickle1
|
UTSW |
15 |
93,408,553 (GRCm39) |
missense |
probably null |
0.82 |
R7022:Prickle1
|
UTSW |
15 |
93,398,752 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7474:Prickle1
|
UTSW |
15 |
93,406,552 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7851:Prickle1
|
UTSW |
15 |
93,398,440 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9300:Prickle1
|
UTSW |
15 |
93,398,749 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9405:Prickle1
|
UTSW |
15 |
93,400,861 (GRCm39) |
nonsense |
probably null |
|
X0066:Prickle1
|
UTSW |
15 |
93,401,075 (GRCm39) |
missense |
probably benign |
0.00 |
X0067:Prickle1
|
UTSW |
15 |
93,406,562 (GRCm39) |
missense |
probably benign |
0.21 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGAGAGCCACGTATTTTGC -3'
(R):5'- TCACCAGCAGGAGTAGACAG -3'
Sequencing Primer
(F):5'- CCACGTATTTTGCTTAGTTGGGAAC -3'
(R):5'- TTTCAAGTGGGAAATGCTGAAAACCC -3'
|
Posted On |
2015-06-20 |