Incidental Mutation 'R5773:Prickle1'
ID 445530
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 043372-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5773 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 93396995-93493772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 93406478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Asparagine at position 182 (H182N)
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: H182N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: H182N

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: H182N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: H182N

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 G A 2: 155,416,614 (GRCm39) probably null Het
Akna C T 4: 63,313,307 (GRCm39) S272N probably benign Het
Ap2m1 T C 16: 20,362,140 (GRCm39) V416A probably damaging Het
Atp7b A G 8: 22,517,879 (GRCm39) F320L probably benign Het
Brd1 T C 15: 88,573,752 (GRCm39) K1116E probably benign Het
Ccdc186 T C 19: 56,801,919 (GRCm39) D66G probably benign Het
Cdh4 A G 2: 179,527,789 (GRCm39) Y503C probably damaging Het
Cfb C A 17: 35,076,248 (GRCm39) E166* probably null Het
Cmtm1 A T 8: 105,031,808 (GRCm39) F90I probably damaging Het
Col1a1 A T 11: 94,830,255 (GRCm39) K160N probably benign Het
Cradd T C 10: 95,011,823 (GRCm39) I106V probably benign Het
Defa17 A G 8: 22,146,574 (GRCm39) R67G probably damaging Het
Dgkh T C 14: 78,832,895 (GRCm39) N765S probably damaging Het
Dock5 A G 14: 68,033,507 (GRCm39) V954A possibly damaging Het
Eif2d A G 1: 131,086,040 (GRCm39) probably null Het
Epg5 T A 18: 78,004,040 (GRCm39) F683I probably damaging Het
Fhad1 T G 4: 141,656,881 (GRCm39) K91T probably damaging Het
Fut11 A T 14: 20,748,383 (GRCm39) D476V probably damaging Het
Gldn T C 9: 54,241,775 (GRCm39) probably null Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Gm8674 T A 13: 50,055,912 (GRCm39) noncoding transcript Het
Gtpbp6 C A 5: 110,254,757 (GRCm39) E168D possibly damaging Het
Hinfp T A 9: 44,210,533 (GRCm39) H163L probably benign Het
Igkv6-29 C A 6: 70,115,584 (GRCm39) G70V possibly damaging Het
Ing3 T A 6: 21,971,834 (GRCm39) C368S probably damaging Het
Itih1 A G 14: 30,657,356 (GRCm39) V489A possibly damaging Het
Itsn2 T C 12: 4,757,089 (GRCm39) L1393P probably damaging Het
Kcnj13 T C 1: 87,314,389 (GRCm39) T278A probably damaging Het
Kntc1 G A 5: 123,932,220 (GRCm39) R1338Q probably damaging Het
Lipi T A 16: 75,370,813 (GRCm39) T135S probably damaging Het
Map7 A G 10: 20,122,390 (GRCm39) K152R probably benign Het
Mmp24 A G 2: 155,641,829 (GRCm39) Y219C probably damaging Het
Nup188 T C 2: 30,212,208 (GRCm39) V565A possibly damaging Het
Nup210 T C 6: 91,062,865 (GRCm39) K265E probably damaging Het
Or10ak9 A G 4: 118,726,718 (GRCm39) T247A probably damaging Het
Pcdha6 A T 18: 37,102,643 (GRCm39) H612L probably benign Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Pld2 G T 11: 70,446,758 (GRCm39) S778I probably damaging Het
Ppef2 A C 5: 92,398,420 (GRCm39) Y33D probably damaging Het
Ppfibp2 A T 7: 107,285,079 (GRCm39) T129S possibly damaging Het
R3hdm2 T A 10: 127,280,172 (GRCm39) probably benign Het
Rbm12b1 A T 4: 12,145,765 (GRCm39) E579V probably damaging Het
Rsf1 GGC GGCGGCGGCTGC 7: 97,229,140 (GRCm39) probably benign Het
Slc1a6 T G 10: 78,629,111 (GRCm39) probably null Het
Slc27a6 G T 18: 58,715,245 (GRCm39) A283S probably damaging Het
Spats2l T A 1: 57,918,708 (GRCm39) N27K possibly damaging Het
Srgap1 T C 10: 121,732,614 (GRCm39) M155V probably benign Het
Stxbp5l C A 16: 37,028,459 (GRCm39) A535S probably damaging Het
Svep1 C A 4: 58,099,985 (GRCm39) C1353F possibly damaging Het
Taar4 T A 10: 23,837,056 (GRCm39) I222N probably damaging Het
Tlr6 A G 5: 65,111,846 (GRCm39) F354L probably benign Het
Trp53bp1 A G 2: 121,074,395 (GRCm39) S452P probably damaging Het
Ttll5 GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC G 12: 85,980,329 (GRCm39) probably null Het
Usp42 A T 5: 143,699,467 (GRCm39) M1264K probably benign Het
Zfp865 A T 7: 5,037,693 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,334,511 (GRCm39) L169Q probably damaging Het
Zmym4 A T 4: 126,799,163 (GRCm39) N383K possibly 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
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
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'- CATCATGGGCAAGCAGAAGC -3'
(R):5'- GTGGGAAATGCTGAAAACCC -3'

Sequencing Primer
(F):5'- GGGCAGCTTTATCTTAAACATACCC -3'
(R):5'- CCCAGTAATTTAGGTGAAGGACC -3'
Posted On 2016-11-21