Incidental Mutation 'R2864:Prickle1'
| ID |
253119 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2864 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
93396995-93493772 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 93407159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 112
(G112R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048982]
[ENSMUST00000109255]
|
| AlphaFold |
Q3U5C7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048982
AA Change: G112R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: G112R
| 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 damaging
Transcript: ENSMUST00000109255
AA Change: G112R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: G112R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap30 |
G |
T |
1: 171,235,774 (GRCm39) |
G716V |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,211 (GRCm39) |
V266A |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,072 (GRCm39) |
F624L |
probably damaging |
Het |
| Fhod1 |
T |
C |
8: 106,059,543 (GRCm39) |
K714R |
probably null |
Het |
| Flt1 |
T |
C |
5: 147,531,431 (GRCm39) |
Q844R |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,641,578 (GRCm39) |
V1656A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,393,250 (GRCm39) |
I562T |
probably damaging |
Het |
| Gm7168 |
A |
G |
17: 14,170,117 (GRCm39) |
K495E |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,905,611 (GRCm39) |
H2240R |
probably damaging |
Het |
| Itpr3 |
T |
C |
17: 27,310,525 (GRCm39) |
V436A |
probably benign |
Het |
| Lrp1b |
G |
T |
2: 40,765,007 (GRCm39) |
Q2826K |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,431,744 (GRCm39) |
F1357S |
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,485,335 (GRCm39) |
Q112K |
probably damaging |
Het |
| Misp |
A |
G |
10: 79,662,872 (GRCm39) |
K430E |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,744,226 (GRCm39) |
|
probably null |
Het |
| Or8b43 |
A |
G |
9: 38,360,684 (GRCm39) |
N172S |
possibly damaging |
Het |
| Paqr3 |
C |
T |
5: 97,247,595 (GRCm39) |
R171H |
possibly damaging |
Het |
| Phc3 |
C |
T |
3: 30,968,277 (GRCm39) |
D920N |
probably damaging |
Het |
| Pigk |
T |
C |
3: 152,428,189 (GRCm39) |
V72A |
probably damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,799,557 (GRCm39) |
E1050G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,323 (GRCm39) |
I732F |
probably damaging |
Het |
| Xkr6 |
T |
C |
14: 64,057,205 (GRCm39) |
L372P |
unknown |
Het |
| Zfp523 |
T |
C |
17: 28,421,514 (GRCm39) |
V60A |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTCAATGAGACCGACTCC -3'
(R):5'- CATGCCAACTGAGGGTTAGAG -3'
Sequencing Primer
(F):5'- TTCAATGAGACCGACTCCTGTGG -3'
(R):5'- GCAGCTAGGCTTCCCTGTTTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation