Incidental Mutation 'R5334:Prickle2'
ID 423408
Institutional Source Beutler Lab
Gene Symbol Prickle2
Ensembl Gene ENSMUSG00000030020
Gene Name prickle planar cell polarity protein 2
Synonyms mpk2, 6230400G14Rik, Pk2, 6720451F06Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R5334 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92402665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 52 (Y52H)
Ref Sequence ENSEMBL: ENSMUSP00000109074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]
AlphaFold Q80Y24
Predicted Effect probably damaging
Transcript: ENSMUST00000032093
AA Change: Y108H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: Y108H

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 damaging
Transcript: ENSMUST00000113445
AA Change: Y52H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: Y52H

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 damaging
Transcript: ENSMUST00000113446
AA Change: Y52H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: Y52H

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 damaging
Transcript: ENSMUST00000113447
AA Change: Y52H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: Y52H

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ap4s1 C T 12: 51,785,454 (GRCm39) S142L probably benign Het
Apol11a A G 15: 77,400,953 (GRCm39) T147A probably benign Het
Aqp9 T C 9: 71,030,292 (GRCm39) probably null Het
Arhgap25 T A 6: 87,440,243 (GRCm39) N468I possibly damaging Het
Arhgef2 T A 3: 88,553,636 (GRCm39) S924R probably damaging Het
Atad3a A T 4: 155,840,146 (GRCm39) L144Q probably damaging Het
Ccbe1 T C 18: 66,216,316 (GRCm39) I136V probably damaging Het
Col24a1 C A 3: 145,167,280 (GRCm39) P1119Q possibly damaging Het
Dgkd T C 1: 87,865,989 (GRCm39) probably null Het
Dnah7a A G 1: 53,542,805 (GRCm39) I2455T probably benign Het
Dock2 T C 11: 34,178,643 (GRCm39) T1795A probably benign Het
Dpp6 A T 5: 27,914,538 (GRCm39) E541V probably benign Het
Edem1 T C 6: 108,825,793 (GRCm39) probably null Het
Fbxo41 A G 6: 85,455,465 (GRCm39) V573A probably damaging Het
Fech A C 18: 64,597,191 (GRCm39) V256G probably damaging Het
Gad1-ps G A 10: 99,281,009 (GRCm39) noncoding transcript Het
Gal3st4 T G 5: 138,263,983 (GRCm39) K339Q probably benign Het
Gpr158 T A 2: 21,832,316 (GRCm39) S1139T probably benign Het
Gpr180 A T 14: 118,397,468 (GRCm39) S321C probably damaging Het
Grik1 CGG CGGG 16: 87,720,082 (GRCm39) probably null Het
Grin2c T G 11: 115,146,881 (GRCm39) N438T possibly damaging Het
Hcn2 T C 10: 79,562,125 (GRCm39) S374P probably damaging Het
Hmcn1 T A 1: 150,631,123 (GRCm39) I892F probably damaging Het
Ifi207 C T 1: 173,555,097 (GRCm39) V869I probably benign Het
Itgad T C 7: 127,788,458 (GRCm39) Y390H probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kcnj15 A G 16: 95,097,508 (GRCm39) K377E probably damaging Het
Kcnq3 A G 15: 65,897,073 (GRCm39) S276P probably damaging Het
Klhl26 T C 8: 70,904,968 (GRCm39) D280G probably damaging Het
Lmnb2 C T 10: 80,739,791 (GRCm39) V376I probably benign Het
Lrrc37 T C 11: 103,504,699 (GRCm39) Q2423R probably benign Het
Mepce T A 5: 137,784,889 (GRCm39) R29S probably benign Het
Mlh3 A G 12: 85,292,535 (GRCm39) probably null Het
Mlip T A 9: 77,150,958 (GRCm39) T33S probably damaging Het
Msantd5f6 T A 4: 73,321,754 (GRCm39) M94L probably benign Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Ncapg2 T C 12: 116,390,257 (GRCm39) I402T probably damaging Het
Or2aj6 C G 16: 19,443,241 (GRCm39) G203A probably benign Het
Or5m13b T C 2: 85,754,058 (GRCm39) Y149H probably damaging Het
Pcsk5 T C 19: 17,439,215 (GRCm39) D1301G probably benign Het
Pilrb1 T C 5: 137,853,165 (GRCm39) M213V probably benign Het
Plxdc1 T C 11: 97,846,931 (GRCm39) T163A possibly damaging Het
Pnpla2 T C 7: 141,039,406 (GRCm39) L373P probably damaging Het
Rnf220 A G 4: 117,129,548 (GRCm39) C294R probably damaging Het
Slc12a1 A G 2: 125,059,809 (GRCm39) D903G probably damaging Het
Slc34a1 T C 13: 24,003,034 (GRCm39) F228S probably damaging Het
Sptbn1 T C 11: 30,087,364 (GRCm39) E1025G possibly damaging Het
Sult1c2 T G 17: 54,271,758 (GRCm39) D143A probably damaging Het
Taar1 T G 10: 23,796,443 (GRCm39) I47R probably damaging Het
Tctn3 G T 19: 40,591,266 (GRCm39) Q514K probably benign Het
Tg T C 15: 66,549,904 (GRCm39) F222S probably damaging Het
Tmem236 C A 2: 14,223,871 (GRCm39) T220K possibly damaging Het
Trim50 C T 5: 135,396,330 (GRCm39) T426M probably damaging Het
Vmn1r237 T C 17: 21,534,942 (GRCm39) F222L probably benign Het
Wrap73 G A 4: 154,229,731 (GRCm39) R34Q probably damaging Het
Zfp85 T C 13: 67,899,803 (GRCm39) Y52C probably damaging 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
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
R6084:Prickle2 UTSW 6 92,393,829 (GRCm39) nonsense probably null
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'- GCAGCAATCTTACTGATCACAATG -3'
(R):5'- GTGAGGGGCAATTCACTTGG -3'

Sequencing Primer
(F):5'- TACTGATCACAATGATTAGGAAGAGG -3'
(R):5'- AATTCACTTGGCTCTGTCTTTTAGG -3'
Posted On 2016-08-04