Incidental Mutation 'IGL00578:Prickle1'
| ID |
4052 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prickle1
|
| Ensembl Gene |
ENSMUSG00000036158 |
| Gene Name |
prickle planar cell polarity protein 1 |
| Synonyms |
1110058P22Rik, mpk1, Pk1, b2b019Clo |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
93396995-93493772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93398662 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 722
(L722P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048982]
[ENSMUST00000109255]
|
| AlphaFold |
Q3U5C7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048982
AA Change: L722P
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: L722P
| 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 |
probably benign
Transcript: ENSMUST00000109255
AA Change: L722P
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: L722P
| 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 |
0.0898 |
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aebp1 |
A |
G |
11: 5,821,787 (GRCm39) |
T729A |
possibly damaging |
Het |
| Ank3 |
C |
A |
10: 69,838,224 (GRCm39) |
S864Y |
possibly damaging |
Het |
| Ankrd44 |
G |
A |
1: 54,701,806 (GRCm39) |
|
probably benign |
Het |
| Atp11c |
C |
T |
X: 59,286,177 (GRCm39) |
G996R |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 113,987,755 (GRCm39) |
T250A |
possibly damaging |
Het |
| Cox8a |
T |
A |
19: 7,192,770 (GRCm39) |
Y65F |
probably damaging |
Het |
| Ctnnd1 |
G |
T |
2: 84,439,969 (GRCm39) |
N451K |
probably damaging |
Het |
| D630045J12Rik |
T |
C |
6: 38,171,865 (GRCm39) |
T768A |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,347,612 (GRCm39) |
S999P |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,667,962 (GRCm39) |
I88T |
probably damaging |
Het |
| Kdm2b |
A |
G |
5: 123,099,630 (GRCm39) |
V103A |
probably damaging |
Het |
| Klk1b26 |
T |
C |
7: 43,666,309 (GRCm39) |
S251P |
probably benign |
Het |
| Krtap16-1 |
A |
G |
11: 99,876,121 (GRCm39) |
S428P |
probably benign |
Het |
| Lrp1b |
C |
T |
2: 40,569,185 (GRCm39) |
V210I |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,119,793 (GRCm39) |
D1018E |
probably damaging |
Het |
| Nxph2 |
T |
A |
2: 23,290,334 (GRCm39) |
C229S |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,961 (GRCm39) |
|
probably benign |
Het |
| Rimoc1 |
C |
A |
15: 4,018,118 (GRCm39) |
G186C |
probably damaging |
Het |
| Sfpq |
T |
C |
4: 126,919,700 (GRCm39) |
Y482H |
probably damaging |
Het |
| Sycp2 |
T |
C |
2: 177,992,615 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
A |
G |
10: 60,602,834 (GRCm39) |
I866T |
probably damaging |
Het |
|
| Other mutations in Prickle1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4301:Prickle1
|
UTSW |
15 |
93,406,517 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
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 |
|
| Posted On |
2012-04-20 |
Incidental Mutation