Incidental Mutation 'IGL02754:Prickle1'
ID 306340
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) question?
Stock # IGL02754
Quality Score
Status
Chromosome 15
Chromosomal Location 93396995-93493772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93399034 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3U5C7
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: 39,507,922 (GRCm39) R405* probably null Het
AW551984 C T 9: 39,504,624 (GRCm39) probably null Het
Bdp1 T C 13: 100,197,481 (GRCm39) E968G possibly damaging Het
Ccdc68 T C 18: 70,076,935 (GRCm39) probably null Het
Ccdc87 T A 19: 4,889,889 (GRCm39) L127H probably damaging Het
Cdk5r1 G T 11: 80,368,569 (GRCm39) A79S probably benign Het
Cdyl A T 13: 35,867,725 (GRCm39) probably benign Het
Cfdp1 A G 8: 112,580,766 (GRCm39) probably benign Het
Chi3l1 A T 1: 134,111,339 (GRCm39) I62F probably damaging Het
Cnot1 A T 8: 96,481,706 (GRCm39) I789K probably benign Het
Cobl T C 11: 12,204,371 (GRCm39) K695R probably damaging Het
Cobl C A 11: 12,204,370 (GRCm39) K752N probably damaging Het
Cstdc5 G A 16: 36,179,899 (GRCm39) P73S probably benign Het
Dcaf6 T C 1: 165,165,915 (GRCm39) probably null Het
Ece2 A T 16: 20,451,398 (GRCm39) I197F probably damaging Het
Eif2b5 T G 16: 20,321,536 (GRCm39) V363G possibly damaging Het
Gca T C 2: 62,502,702 (GRCm39) S37P probably benign Het
Ghsr A C 3: 27,426,645 (GRCm39) I234L probably damaging Het
Grin3b A T 10: 79,808,723 (GRCm39) I158F possibly damaging Het
Gtf2h2 A T 13: 100,617,747 (GRCm39) D178E probably damaging Het
Herc2 A G 7: 55,747,246 (GRCm39) E461G probably damaging Het
Hsph1 T A 5: 149,547,057 (GRCm39) N531I possibly damaging Het
Insl6 G T 19: 29,302,529 (GRCm39) Q63K probably benign Het
Lrp1b T C 2: 40,592,806 (GRCm39) N3771S probably benign Het
Lrp8 T C 4: 107,691,952 (GRCm39) probably null Het
Lvrn C T 18: 47,023,971 (GRCm39) Q773* probably null Het
Mterf1b T C 5: 4,246,478 (GRCm39) F40L possibly damaging Het
Nrg1 G A 8: 32,316,391 (GRCm39) probably benign Het
Or10ak13 T A 4: 118,639,117 (GRCm39) I222F possibly damaging Het
Or1n1 T A 2: 36,750,232 (GRCm39) I43F probably damaging Het
Or5p79 T C 7: 108,221,880 (GRCm39) I287T possibly damaging Het
Pax5 C T 4: 44,570,059 (GRCm39) V319I probably damaging Het
Plcz1 T A 6: 139,956,307 (GRCm39) T321S probably benign Het
Plekha6 A G 1: 133,212,676 (GRCm39) E660G probably damaging Het
Prep T C 10: 44,943,428 (GRCm39) M1T probably null Het
Prtn3 A G 10: 79,716,932 (GRCm39) Q99R probably benign Het
Rad50 A G 11: 53,592,883 (GRCm39) V89A probably damaging Het
Ret T C 6: 118,153,213 (GRCm39) Y485C probably benign Het
Setd2 T A 9: 110,379,124 (GRCm39) F980I possibly damaging Het
Slc44a4 A G 17: 35,140,279 (GRCm39) Y228C probably damaging Het
Tex10 C T 4: 48,435,028 (GRCm39) C779Y possibly damaging Het
Tfdp2 T G 9: 96,199,592 (GRCm39) S285A probably benign Het
Thsd4 T A 9: 59,896,380 (GRCm39) probably benign Het
Tmem106a A C 11: 101,481,219 (GRCm39) E242D probably benign Het
Ttc22 T C 4: 106,495,669 (GRCm39) V341A probably benign Het
Ubr4 T A 4: 139,138,095 (GRCm39) S1151T probably damaging Het
Ubr4 G A 4: 139,120,470 (GRCm39) probably null Het
Vmn1r206 A T 13: 22,805,060 (GRCm39) L49* probably null Het
Vmn1r233 A T 17: 21,214,887 (GRCm39) F21Y probably benign Het
Vmn1r233 A T 17: 21,214,886 (GRCm39) F21L probably benign Het
Vmn2r15 A T 5: 109,441,134 (GRCm39) C241* probably null Het
Zmym6 T A 4: 127,003,764 (GRCm39) probably benign Het
Other mutations in Prickle1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2015-04-16