Incidental Mutation 'IGL01917:Prickle1'
ID179982
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prickle1
Ensembl Gene ENSMUSG00000036158
Gene Nameprickle planar cell polarity protein 1
Synonyms1110058P22Rik, b2b019Clo, mpk1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01917
Quality Score
Status
Chromosome15
Chromosomal Location93499114-93595891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93503527 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 359 (K359E)
Ref Sequence ENSEMBL: ENSMUSP00000104878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048982] [ENSMUST00000109255]
Predicted Effect probably damaging
Transcript: ENSMUST00000048982
AA Change: K359E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: K359E

DomainStartEndE-ValueType
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: K359E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: K359E

DomainStartEndE-ValueType
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 A T 13: 23,423,789 M15K unknown Het
Adal A G 2: 121,142,554 S31G possibly damaging Het
C2cd5 T C 6: 143,072,596 Y300C probably benign Het
Chia1 T A 3: 106,128,220 V184E probably damaging Het
Fat4 T A 3: 38,889,730 V924D possibly damaging Het
Fstl5 A T 3: 76,707,846 H738L probably damaging Het
Gimap4 T C 6: 48,690,920 M75T probably benign Het
Gm10238 A T 15: 75,237,712 noncoding transcript Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gsdmc A G 15: 63,778,585 Y307H probably benign Het
Iqub A G 6: 24,479,319 L408P probably damaging Het
Lbx1 T A 19: 45,234,213 K124* probably null Het
Naip2 C A 13: 100,162,083 V482L probably benign Het
Olfr596 T A 7: 103,310,357 L212* probably null Het
Pdcd11 C A 19: 47,101,165 Q325K possibly damaging Het
Pik3c3 T A 18: 30,274,446 S82R probably damaging Het
Pramef6 T A 4: 143,897,714 E71V probably benign Het
Ptprj A G 2: 90,469,749 V236A probably damaging Het
Serpinb3d T A 1: 107,079,681 T192S probably damaging Het
Usp31 T C 7: 121,679,485 N219S probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Prickle1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Prickle1 APN 15 93500781 missense probably benign 0.29
IGL01641:Prickle1 APN 15 93500572 missense probably benign 0.05
IGL02124:Prickle1 APN 15 93503146 missense probably damaging 1.00
IGL02754:Prickle1 APN 15 93501153 missense possibly damaging 0.94
P0028:Prickle1 UTSW 15 93500902 missense probably damaging 1.00
R0134:Prickle1 UTSW 15 93510777 missense possibly damaging 0.63
R0189:Prickle1 UTSW 15 93503019 nonsense probably null
R0225:Prickle1 UTSW 15 93510777 missense possibly damaging 0.63
R0556:Prickle1 UTSW 15 93500781 missense probably benign 0.29
R1144:Prickle1 UTSW 15 93512461 missense probably damaging 0.99
R1440:Prickle1 UTSW 15 93505074 missense possibly damaging 0.85
R1458:Prickle1 UTSW 15 93500638 missense probably damaging 1.00
R2420:Prickle1 UTSW 15 93503637 missense probably damaging 1.00
R2656:Prickle1 UTSW 15 93503370 missense probably benign 0.32
R2864:Prickle1 UTSW 15 93509278 missense probably damaging 0.99
R4301:Prickle1 UTSW 15 93508636 missense possibly damaging 0.82
R4912:Prickle1 UTSW 15 93500548 missense probably benign 0.00
R5085:Prickle1 UTSW 15 93500902 missense probably damaging 1.00
R5773:Prickle1 UTSW 15 93508597 missense probably damaging 1.00
R5836:Prickle1 UTSW 15 93503017 nonsense probably null
R5902:Prickle1 UTSW 15 93510672 missense probably null 0.82
R7022:Prickle1 UTSW 15 93500871 missense possibly damaging 0.82
X0066:Prickle1 UTSW 15 93503194 missense probably benign 0.00
X0067:Prickle1 UTSW 15 93508681 missense probably benign 0.21
Posted On2014-05-07