Incidental Mutation 'R4301:Prickle1'
ID 322428
Institutional Source Beutler Lab
Gene Symbol Prickle1
Ensembl Gene ENSMUSG00000036158
Gene Name prickle planar cell polarity protein 1
Synonyms 1110058P22Rik, mpk1, Pk1, b2b019Clo
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 93396995-93493772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93406517 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 169 (I169V)
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: I169V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: I169V

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: I169V

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: I169V

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
Meta Mutation Damage Score 0.2024 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fam193b G A 13: 55,690,417 (GRCm39) R740* probably null Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A probably damaging 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
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
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'- GGGAGAGCCACGTATTTTGC -3'
(R):5'- TCACCAGCAGGAGTAGACAG -3'

Sequencing Primer
(F):5'- CCACGTATTTTGCTTAGTTGGGAAC -3'
(R):5'- TTTCAAGTGGGAAATGCTGAAAACCC -3'
Posted On 2015-06-20