Incidental Mutation 'R6084:Prickle2'
ID 482378
Institutional Source Beutler Lab
Gene Symbol Prickle2
Ensembl Gene ENSMUSG00000030020
Gene Name prickle planar cell polarity protein 2
Synonyms mpk2, 6230400G14Rik, Pk2, 6720451F06Rik
MMRRC Submission 044243-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R6084 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 92393829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 225 (C225*)
Ref Sequence ENSEMBL: ENSMUSP00000109074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]
AlphaFold Q80Y24
Predicted Effect probably null
Transcript: ENSMUST00000032093
AA Change: C281*
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: C281*

DomainStartEndE-ValueType
low complexity region 3 15 N/A INTRINSIC
Pfam:PET 76 176 1.2e-45 PFAM
LIM 185 242 3.05e-10 SMART
LIM 250 302 5.43e-16 SMART
LIM 310 365 2.92e-7 SMART
low complexity region 465 477 N/A INTRINSIC
low complexity region 534 546 N/A INTRINSIC
low complexity region 725 753 N/A INTRINSIC
low complexity region 832 841 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113445
AA Change: C225*
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: C225*

DomainStartEndE-ValueType
Pfam:PET 17 122 8.9e-47 PFAM
LIM 129 186 3.05e-10 SMART
LIM 194 246 5.43e-16 SMART
LIM 254 309 2.92e-7 SMART
low complexity region 409 421 N/A INTRINSIC
low complexity region 478 490 N/A INTRINSIC
low complexity region 669 697 N/A INTRINSIC
low complexity region 776 785 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113446
AA Change: C225*
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: C225*

DomainStartEndE-ValueType
Pfam:PET 17 122 8.9e-47 PFAM
LIM 129 186 3.05e-10 SMART
LIM 194 246 5.43e-16 SMART
LIM 254 309 2.92e-7 SMART
low complexity region 409 421 N/A INTRINSIC
low complexity region 478 490 N/A INTRINSIC
low complexity region 669 697 N/A INTRINSIC
low complexity region 776 785 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000113447
AA Change: C225*
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: C225*

DomainStartEndE-ValueType
Pfam:PET 17 122 8.9e-47 PFAM
LIM 129 186 3.05e-10 SMART
LIM 194 246 5.43e-16 SMART
LIM 254 309 2.92e-7 SMART
low complexity region 409 421 N/A INTRINSIC
low complexity region 478 490 N/A INTRINSIC
low complexity region 669 697 N/A INTRINSIC
low complexity region 776 785 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive or PTZ-induced seizures. Mice heterozygous for a knock-out allele exhibit increased susceptibility to electroconvulsive seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,828,297 (GRCm39) D958G possibly damaging Het
Bag4 T C 8: 26,261,259 (GRCm39) T161A probably benign Het
Bora A T 14: 99,299,730 (GRCm39) Q234L possibly damaging Het
Cacna2d2 T C 9: 107,374,720 (GRCm39) probably null Het
Cass4 G T 2: 172,268,832 (GRCm39) A307S probably benign Het
Cbln4 A T 2: 171,884,016 (GRCm39) V68E probably damaging Het
Cc2d2a T A 5: 43,826,015 (GRCm39) N2K probably benign Het
Ccnf T A 17: 24,450,811 (GRCm39) D389V probably damaging Het
Cdipt T C 7: 126,578,773 (GRCm39) S161P probably benign Het
Ceacam19 T C 7: 19,616,812 (GRCm39) I161V probably benign Het
Cfap65 A G 1: 74,959,564 (GRCm39) I862T probably damaging Het
Cfi T A 3: 129,652,019 (GRCm39) L230Q probably benign Het
Chac2 G A 11: 30,936,159 (GRCm39) R30W probably damaging Het
Cmc2 G A 8: 117,616,566 (GRCm39) probably benign Het
Col1a2 A T 6: 4,505,840 (GRCm39) M1L probably benign Het
Cox8a C A 19: 7,194,783 (GRCm39) R32L possibly damaging Het
Cubn T A 2: 13,435,708 (GRCm39) N1083Y probably damaging Het
D630003M21Rik T C 2: 158,059,504 (GRCm39) D132G probably damaging Het
Dedd2 G A 7: 24,910,715 (GRCm39) P154S probably benign Het
Dnaaf3 T C 7: 4,527,212 (GRCm39) D358G probably benign Het
Dysf T A 6: 83,996,586 (GRCm39) F29L probably damaging Het
Dysf T C 6: 84,089,101 (GRCm39) L888P probably damaging Het
Ebf4 A G 2: 130,151,643 (GRCm39) D277G probably damaging Het
Ecm2 T A 13: 49,668,570 (GRCm39) L91* probably null Het
Foxs1 T C 2: 152,774,762 (GRCm39) D97G possibly damaging Het
Frs2 A C 10: 116,912,714 (GRCm39) probably null Het
Grp A T 18: 66,013,008 (GRCm39) D58V probably damaging Het
Hif1a T G 12: 73,988,616 (GRCm39) F537C probably damaging Het
Icam4 G A 9: 20,940,835 (GRCm39) S29N probably benign Het
Itfg1 T C 8: 86,452,799 (GRCm39) E523G probably benign Het
Jph2 T C 2: 163,217,600 (GRCm39) K359E probably damaging Het
Katnip G A 7: 125,414,037 (GRCm39) G394R probably benign Het
Kcnq2 A T 2: 180,729,449 (GRCm39) V490E possibly damaging Het
Klhl18 C T 9: 110,257,795 (GRCm39) M548I possibly damaging Het
Lpin3 A G 2: 160,737,721 (GRCm39) Y197C probably benign Het
Lrp1 T C 10: 127,396,422 (GRCm39) N2381D probably benign Het
Man1a A T 10: 53,795,307 (GRCm39) W649R probably damaging Het
Map4 T C 9: 109,893,360 (GRCm39) L542P probably damaging Het
Mboat2 A T 12: 24,928,284 (GRCm39) H52L probably damaging Het
Mok C G 12: 110,781,380 (GRCm39) S91T probably benign Het
Mtmr11 G T 3: 96,075,400 (GRCm39) R360L probably damaging Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Ncoa4-ps A G 12: 119,225,386 (GRCm39) noncoding transcript Het
Or1j13 A G 2: 36,369,524 (GRCm39) V206A probably benign Het
Or4g7 A T 2: 111,309,734 (GRCm39) N202Y probably damaging Het
Or52z1 C T 7: 103,437,162 (GRCm39) M107I probably benign Het
Or55b4 T C 7: 102,133,596 (GRCm39) T244A probably damaging Het
Or7d11 A T 9: 19,966,179 (GRCm39) H75Q possibly damaging Het
Or7g21 A G 9: 19,032,623 (GRCm39) D121G probably damaging Het
Padi3 G T 4: 140,523,154 (GRCm39) T292N probably damaging Het
Pard6g A C 18: 80,160,420 (GRCm39) T178P possibly damaging Het
Pkd1l2 A T 8: 117,740,726 (GRCm39) Y2124N probably damaging Het
Plxdc1 G A 11: 97,819,289 (GRCm39) T398I probably damaging Het
Prmt2 G A 10: 76,046,278 (GRCm39) T317I probably benign Het
Psg22 T G 7: 18,453,705 (GRCm39) N172K probably benign Het
Ptpn9 C T 9: 56,940,447 (GRCm39) R196* probably null Het
Rap1b C T 10: 117,660,516 (GRCm39) V14I probably damaging Het
Rapgef4 T A 2: 72,026,622 (GRCm39) probably null Het
Rlf A T 4: 121,006,412 (GRCm39) M856K possibly damaging Het
Rnf149 A G 1: 39,616,255 (GRCm39) L34P probably benign Het
Rock1 T C 18: 10,101,007 (GRCm39) E636G probably benign Het
Rsad2 A T 12: 26,504,122 (GRCm39) Y136N probably damaging Het
Ryr3 T C 2: 112,738,838 (GRCm39) H563R probably damaging Het
Slc18b1 A G 10: 23,680,110 (GRCm39) M102V probably benign Het
Slc34a2 T A 5: 53,224,989 (GRCm39) C377S possibly damaging Het
Slco1c1 T C 6: 141,492,496 (GRCm39) V293A probably benign Het
Spidr A T 16: 15,957,888 (GRCm39) S80T possibly damaging Het
Syne1 C T 10: 5,298,994 (GRCm39) E1031K probably damaging Het
Synj2 G A 17: 6,067,889 (GRCm39) V121I probably damaging Het
Synj2 A T 17: 6,088,373 (GRCm39) T1430S probably damaging Het
Tecpr2 G T 12: 110,895,543 (GRCm39) K343N probably damaging Het
Tmem132d T A 5: 127,861,164 (GRCm39) I986F probably benign Het
Trib1 G A 15: 59,526,324 (GRCm39) R298H probably damaging Het
Ttll10 T A 4: 156,129,814 (GRCm39) D283V probably benign Het
Ttn T A 2: 76,645,123 (GRCm39) K673* probably null Het
Ubqlnl T A 7: 103,797,905 (GRCm39) M531L probably benign Het
Vmn2r120 A T 17: 57,832,721 (GRCm39) W153R probably benign Het
Vmn2r2 A C 3: 64,024,467 (GRCm39) S705A probably benign Het
Vmn2r32 T A 7: 7,467,209 (GRCm39) D773V probably benign Het
Vmn2r54 T A 7: 12,366,205 (GRCm39) Q243L probably damaging Het
Wdr24 C A 17: 26,043,504 (GRCm39) R109S probably damaging Het
Zfp113 T C 5: 138,143,930 (GRCm39) M107V probably benign Het
Zfp426 G T 9: 20,381,923 (GRCm39) Q341K possibly damaging Het
Zfp616 A T 11: 73,974,672 (GRCm39) K314* probably null Het
Other mutations in Prickle2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02962:Prickle2 APN 6 92,353,403 (GRCm39) missense probably benign 0.00
R0028:Prickle2 UTSW 6 92,399,323 (GRCm39) missense probably benign 0.12
R0122:Prickle2 UTSW 6 92,388,326 (GRCm39) nonsense probably null
R0555:Prickle2 UTSW 6 92,435,546 (GRCm39) missense probably benign 0.02
R0940:Prickle2 UTSW 6 92,387,984 (GRCm39) missense probably benign 0.02
R1394:Prickle2 UTSW 6 92,353,363 (GRCm39) missense possibly damaging 0.87
R1470:Prickle2 UTSW 6 92,435,583 (GRCm39) missense probably damaging 0.96
R1470:Prickle2 UTSW 6 92,435,583 (GRCm39) missense probably damaging 0.96
R1599:Prickle2 UTSW 6 92,387,855 (GRCm39) missense probably benign
R1745:Prickle2 UTSW 6 92,353,574 (GRCm39) missense probably damaging 1.00
R1801:Prickle2 UTSW 6 92,393,885 (GRCm39) missense probably damaging 0.98
R1985:Prickle2 UTSW 6 92,388,433 (GRCm39) missense probably damaging 1.00
R2085:Prickle2 UTSW 6 92,353,345 (GRCm39) missense probably damaging 0.96
R2147:Prickle2 UTSW 6 92,402,652 (GRCm39) missense probably damaging 0.99
R2148:Prickle2 UTSW 6 92,402,652 (GRCm39) missense probably damaging 0.99
R2571:Prickle2 UTSW 6 92,682,381 (GRCm39) missense probably benign 0.09
R3547:Prickle2 UTSW 6 92,388,118 (GRCm39) missense probably damaging 1.00
R4356:Prickle2 UTSW 6 92,388,490 (GRCm39) missense probably damaging 1.00
R4569:Prickle2 UTSW 6 92,399,323 (GRCm39) missense probably benign 0.12
R4896:Prickle2 UTSW 6 92,393,736 (GRCm39) missense probably benign 0.26
R5004:Prickle2 UTSW 6 92,393,736 (GRCm39) missense probably benign 0.26
R5045:Prickle2 UTSW 6 92,353,375 (GRCm39) missense probably damaging 0.96
R5219:Prickle2 UTSW 6 92,353,511 (GRCm39) missense probably benign
R5247:Prickle2 UTSW 6 92,352,950 (GRCm39) missense probably damaging 1.00
R5280:Prickle2 UTSW 6 92,353,191 (GRCm39) missense probably damaging 1.00
R5334:Prickle2 UTSW 6 92,402,665 (GRCm39) missense probably damaging 1.00
R5780:Prickle2 UTSW 6 92,435,593 (GRCm39) missense probably benign 0.06
R5960:Prickle2 UTSW 6 92,353,286 (GRCm39) missense probably benign 0.08
R6362:Prickle2 UTSW 6 92,435,596 (GRCm39) missense possibly damaging 0.77
R6368:Prickle2 UTSW 6 92,397,218 (GRCm39) missense probably damaging 1.00
R6852:Prickle2 UTSW 6 92,353,525 (GRCm39) missense probably benign
R7041:Prickle2 UTSW 6 92,353,286 (GRCm39) missense probably benign 0.08
R7203:Prickle2 UTSW 6 92,387,959 (GRCm39) missense possibly damaging 0.61
R7352:Prickle2 UTSW 6 92,387,871 (GRCm39) missense probably benign 0.00
R7405:Prickle2 UTSW 6 92,435,524 (GRCm39) missense probably damaging 0.96
R7510:Prickle2 UTSW 6 92,353,451 (GRCm39) missense possibly damaging 0.58
R7562:Prickle2 UTSW 6 92,352,929 (GRCm39) makesense probably null
R7578:Prickle2 UTSW 6 92,388,271 (GRCm39) missense probably benign 0.32
R7614:Prickle2 UTSW 6 92,402,631 (GRCm39) missense possibly damaging 0.46
R7732:Prickle2 UTSW 6 92,388,205 (GRCm39) missense probably damaging 1.00
R7948:Prickle2 UTSW 6 92,393,903 (GRCm39) missense possibly damaging 0.84
R7984:Prickle2 UTSW 6 92,387,855 (GRCm39) missense probably benign
R8350:Prickle2 UTSW 6 92,353,483 (GRCm39) missense probably benign
R8404:Prickle2 UTSW 6 92,397,302 (GRCm39) missense probably damaging 0.96
R8988:Prickle2 UTSW 6 92,435,620 (GRCm39) missense possibly damaging 0.92
R9184:Prickle2 UTSW 6 92,388,505 (GRCm39) missense possibly damaging 0.46
R9348:Prickle2 UTSW 6 92,397,243 (GRCm39) missense probably benign 0.00
R9532:Prickle2 UTSW 6 92,683,096 (GRCm39) missense probably benign 0.00
R9755:Prickle2 UTSW 6 92,399,319 (GRCm39) missense probably damaging 1.00
X0020:Prickle2 UTSW 6 92,393,834 (GRCm39) missense probably damaging 0.98
X0026:Prickle2 UTSW 6 92,388,407 (GRCm39) nonsense probably null
X0066:Prickle2 UTSW 6 92,353,414 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACTTTTCCTAGAGCATGGAAGAG -3'
(R):5'- ATAATCTGTGGGTCACCCTGC -3'

Posted On 2017-07-14