Incidental Mutation 'R7041:Prickle2'
ID 547052
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 045140-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R7041 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 92353286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 783 (F783L)
Ref Sequence ENSEMBL: ENSMUSP00000032093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]
AlphaFold Q80Y24
Predicted Effect probably benign
Transcript: ENSMUST00000032093
AA Change: F783L

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: F783L

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 benign
Transcript: ENSMUST00000113445
AA Change: F727L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: F727L

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 benign
Transcript: ENSMUST00000113446
AA Change: F727L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: F727L

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 benign
Transcript: ENSMUST00000113447
AA Change: F727L

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: F727L

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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G T 7: 78,748,096 (GRCm39) E956* probably null Het
Adam25 A T 8: 41,207,121 (GRCm39) H129L probably benign Het
Adgrl4 A T 3: 151,144,959 (GRCm39) H36L probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Anapc1 A T 2: 128,470,576 (GRCm39) V1518E possibly damaging Het
Atxn1 A G 13: 45,720,311 (GRCm39) I528T probably damaging Het
B4galnt4 A G 7: 140,650,593 (GRCm39) H820R probably damaging Het
Cacna1h T C 17: 25,612,977 (GRCm39) E282G probably damaging Het
Camk1 T A 6: 113,316,475 (GRCm39) M95L probably benign Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cav1 A G 6: 17,339,143 (GRCm39) E45G possibly damaging Het
Ccdc183 T G 2: 25,503,682 (GRCm39) E185A probably benign Het
Ccl2 T A 11: 81,926,489 (GRCm39) M1K probably null Het
Cep97 T A 16: 55,726,117 (GRCm39) H590L probably benign Het
Dsg1c A T 18: 20,399,201 (GRCm39) I102F probably damaging Het
Fcho2 A G 13: 98,921,334 (GRCm39) Y184H possibly damaging Het
Gart C T 16: 91,440,031 (GRCm39) probably benign Het
Gask1a A T 9: 121,794,467 (GRCm39) Q207L probably damaging Het
Golga3 G A 5: 110,356,450 (GRCm39) probably null Het
Hint3 G T 10: 30,486,380 (GRCm39) A133E probably damaging Het
Hspe1 T C 1: 55,128,376 (GRCm39) probably null Het
Insr A T 8: 3,308,418 (GRCm39) V206E probably benign Het
Insrr T C 3: 87,722,551 (GRCm39) S1258P probably damaging Het
Itga11 C T 9: 62,659,538 (GRCm39) T430M probably damaging Het
Jmjd1c G A 10: 67,056,388 (GRCm39) V890I possibly damaging Het
Kdm4b T A 17: 56,703,592 (GRCm39) S717R probably damaging Het
Large1 A T 8: 73,843,092 (GRCm39) C144S probably damaging Het
Lrat G T 3: 82,810,755 (GRCm39) Q89K probably benign Het
Lrrc66 A T 5: 73,765,899 (GRCm39) F381L possibly damaging Het
Myo15a A G 11: 60,396,832 (GRCm39) T2634A probably damaging Het
Nup205 T G 6: 35,201,470 (GRCm39) I1182M possibly damaging Het
Or2a51 T A 6: 43,178,837 (GRCm39) D86E probably benign Het
Or5m10 A T 2: 85,717,965 (GRCm39) I274F probably benign Het
Or6c66 T A 10: 129,461,603 (GRCm39) E109V probably damaging Het
Plekha6 T A 1: 133,200,198 (GRCm39) V259D possibly damaging Het
Prdm9 C A 17: 15,765,257 (GRCm39) A508S possibly damaging Het
Ptprc T C 1: 138,054,047 (GRCm39) S31G probably benign Het
Rbak A T 5: 143,159,226 (GRCm39) I609N probably damaging Het
Rimklb A T 6: 122,436,176 (GRCm39) L134* probably null Het
Ripor2 A G 13: 24,877,749 (GRCm39) I250V probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spaca6 C T 17: 18,056,358 (GRCm39) L118F probably benign Het
Tmem167 G A 13: 90,246,533 (GRCm39) C19Y probably benign Het
Togaram1 C T 12: 65,067,160 (GRCm39) T1684I possibly damaging Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Ubash3a A G 17: 31,447,184 (GRCm39) S347G probably benign Het
Unc80 T C 1: 66,542,752 (GRCm39) S289P probably benign Het
Vmn2r11 A G 5: 109,202,816 (GRCm39) I87T probably damaging Het
Vmn2r54 A T 7: 12,363,751 (GRCm39) F381I probably damaging Het
Wdsub1 A G 2: 59,683,224 (GRCm39) L450P probably damaging Het
Xylt2 A G 11: 94,558,408 (GRCm39) probably null Het
Zfp429 A T 13: 67,538,830 (GRCm39) C205S probably damaging Het
Zfp60 T C 7: 27,448,451 (GRCm39) I373T probably benign Het
Zfp738 A G 13: 67,818,420 (GRCm39) S524P 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
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
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
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'- TAGGAAGTAGCCCTCGTTGTCG -3'
(R):5'- AGGAAGGTGTGCACATCCAG -3'

Sequencing Primer
(F):5'- CTCGTTGTCGGACTCAGAAGAG -3'
(R):5'- ATCCAGCCCATGAGTGAGC -3'
Posted On 2019-05-13