Incidental Mutation 'IGL02754:Prickle1'
ID306340
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 #IGL02754
Quality Score
Status
Chromosome15
Chromosomal Location93499114-93595891 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93501153 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 598 (S598N)
Ref Sequence ENSEMBL: ENSMUSP00000104878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048982] [ENSMUST00000109255]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048982
AA Change: S598N

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: S598N

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 possibly damaging
Transcript: ENSMUST00000109255
AA Change: S598N

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: S598N

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AW551984 T A 9: 39,596,626 R405* probably null Het
AW551984 C T 9: 39,593,328 probably null Het
BC100530 G A 16: 36,359,537 P73S probably benign Het
Bdp1 T C 13: 100,060,973 E968G possibly damaging Het
Ccdc68 T C 18: 69,943,864 probably null Het
Ccdc87 T A 19: 4,839,861 L127H probably damaging Het
Cdk5r1 G T 11: 80,477,743 A79S probably benign Het
Cdyl A T 13: 35,683,742 probably benign Het
Cfdp1 A G 8: 111,854,134 probably benign Het
Chil1 A T 1: 134,183,601 I62F probably damaging Het
Cnot1 A T 8: 95,755,078 I789K probably benign Het
Cobl T C 11: 12,254,371 K695R probably damaging Het
Cobl C A 11: 12,254,370 K752N probably damaging Het
Dcaf6 T C 1: 165,338,346 probably null Het
Ece2 A T 16: 20,632,648 I197F probably damaging Het
Eif2b5 T G 16: 20,502,786 V363G possibly damaging Het
Gca T C 2: 62,672,358 S37P probably benign Het
Ghsr A C 3: 27,372,496 I234L probably damaging Het
Grin3b A T 10: 79,972,889 I158F possibly damaging Het
Gtf2h2 A T 13: 100,481,239 D178E probably damaging Het
Herc2 A G 7: 56,097,498 E461G probably damaging Het
Hsph1 T A 5: 149,623,592 N531I possibly damaging Het
Insl6 G T 19: 29,325,129 Q63K probably benign Het
Lrp1b T C 2: 40,702,794 N3771S probably benign Het
Lrp8 T C 4: 107,834,755 probably null Het
Lvrn C T 18: 46,890,904 Q773* probably null Het
Mterf1b T C 5: 4,196,478 F40L possibly damaging Het
Nrg1 G A 8: 31,826,363 probably benign Het
Olfr1337 T A 4: 118,781,920 I222F possibly damaging Het
Olfr351 T A 2: 36,860,220 I43F probably damaging Het
Olfr507 T C 7: 108,622,673 I287T possibly damaging Het
Pax5 C T 4: 44,570,059 V319I probably damaging Het
Plcz1 T A 6: 140,010,581 T321S probably benign Het
Plekha6 A G 1: 133,284,938 E660G probably damaging Het
Prep T C 10: 45,067,332 M1T probably null Het
Prtn3 A G 10: 79,881,098 Q99R probably benign Het
Rad50 A G 11: 53,702,056 V89A probably damaging Het
Ret T C 6: 118,176,252 Y485C probably benign Het
Setd2 T A 9: 110,550,056 F980I possibly damaging Het
Slc44a4 A G 17: 34,921,303 Y228C probably damaging Het
Tex10 C T 4: 48,435,028 C779Y possibly damaging Het
Tfdp2 T G 9: 96,317,539 S285A probably benign Het
Thsd4 T A 9: 59,989,097 probably benign Het
Tmem106a A C 11: 101,590,393 E242D probably benign Het
Ttc22 T C 4: 106,638,472 V341A probably benign Het
Ubr4 T A 4: 139,410,784 S1151T probably damaging Het
Ubr4 G A 4: 139,393,159 probably null Het
Vmn1r206 A T 13: 22,620,890 L49* probably null Het
Vmn1r233 A T 17: 20,994,624 F21L probably benign Het
Vmn1r233 A T 17: 20,994,625 F21Y probably benign Het
Vmn2r15 A T 5: 109,293,268 C241* probably null Het
Zmym6 T A 4: 127,109,971 probably benign 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
IGL01917:Prickle1 APN 15 93503527 missense probably damaging 0.99
IGL02124:Prickle1 APN 15 93503146 missense probably damaging 1.00
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
R7474:Prickle1 UTSW 15 93508671 missense possibly damaging 0.88
R7851:Prickle1 UTSW 15 93500559 missense possibly damaging 0.49
X0066:Prickle1 UTSW 15 93503194 missense probably benign 0.00
X0067:Prickle1 UTSW 15 93508681 missense probably benign 0.21
Posted On2015-04-16