Incidental Mutation 'R7614:Prickle2'
ID 588766
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 045682-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R7614 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92402631 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 119 (Y119F)
Ref Sequence ENSEMBL: ENSMUSP00000032093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]
AlphaFold Q80Y24
Predicted Effect possibly damaging
Transcript: ENSMUST00000032093
AA Change: Y119F

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: Y119F

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 possibly damaging
Transcript: ENSMUST00000113445
AA Change: Y63F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: Y63F

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 possibly damaging
Transcript: ENSMUST00000113446
AA Change: Y63F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: Y63F

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 possibly damaging
Transcript: ENSMUST00000113447
AA Change: Y63F

PolyPhen 2 Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: Y63F

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abl2 A G 1: 156,464,429 (GRCm39) T535A possibly damaging Het
Adcy9 A T 16: 4,236,088 (GRCm39) L441Q probably damaging Het
Adgrv1 A T 13: 81,668,780 (GRCm39) V2592E probably damaging Het
Ahdc1 A G 4: 132,790,825 (GRCm39) S689G probably benign Het
Ankrd24 G A 10: 81,474,523 (GRCm39) G229E unknown Het
Ankrd34c T A 9: 89,610,914 (GRCm39) I476F probably damaging Het
Arhgef19 A G 4: 140,984,090 (GRCm39) H770R possibly damaging Het
Arhgef4 T G 1: 34,771,316 (GRCm39) S1208A possibly damaging Het
Arid1a A T 4: 133,418,466 (GRCm39) M654K unknown Het
Atp11b T A 3: 35,864,259 (GRCm39) probably null Het
Cadps A G 14: 12,454,260 (GRCm38) I1086T probably damaging Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap276 T A 3: 108,449,848 (GRCm39) D42E probably benign Het
Cntn3 T C 6: 102,142,337 (GRCm39) H1010R probably benign Het
Cyp2c66 T A 19: 39,159,472 (GRCm39) Y308N probably damaging Het
Dok6 T A 18: 89,492,067 (GRCm39) H170L probably damaging Het
Eefsec C T 6: 88,258,576 (GRCm39) D506N possibly damaging Het
Fam181a C T 12: 103,282,805 (GRCm39) P237S probably damaging Het
Fam186b T C 15: 99,184,867 (GRCm39) I19V probably damaging Het
Gm3285 A T 10: 77,697,865 (GRCm39) T5S unknown Het
Heg1 A G 16: 33,547,733 (GRCm39) E864G probably benign Het
Herc2 T A 7: 55,803,023 (GRCm39) L2124* probably null Het
Hexa T C 9: 59,469,230 (GRCm39) S331P probably damaging Het
Hspb1 A T 5: 135,917,223 (GRCm39) D104V probably damaging Het
Ikzf1 A T 11: 11,719,019 (GRCm39) Q329L probably damaging Het
Kcnf1 C A 12: 17,224,787 (GRCm39) R478L probably benign Het
Kdm3a T C 6: 71,568,937 (GRCm39) T1161A possibly damaging Het
Krtap31-2 T C 11: 99,827,429 (GRCm39) I87T possibly damaging Het
Lars2 T C 9: 123,224,176 (GRCm39) S116P Het
Lrrk2 A G 15: 91,657,061 (GRCm39) D1785G probably damaging Het
Myo10 A G 15: 25,701,709 (GRCm39) H61R probably benign Het
Or10x4 T G 1: 174,219,220 (GRCm39) F195C probably damaging Het
Or9s13 A G 1: 92,548,183 (GRCm39) Y185C probably damaging Het
Pcdhb4 C A 18: 37,442,602 (GRCm39) H637Q probably benign Het
Pcsk9 T A 4: 106,304,763 (GRCm39) D435V probably benign Het
Prr5 A G 15: 84,641,276 (GRCm39) T181A probably benign Het
Psd T A 19: 46,301,877 (GRCm39) Q903L probably damaging Het
Ptpn13 T A 5: 103,649,331 (GRCm39) S245T probably benign Het
Resp18 T C 1: 75,254,882 (GRCm39) S24G probably damaging Het
Slc17a4 T C 13: 24,090,580 (GRCm39) T89A probably benign Het
Slc9a9 A G 9: 94,737,792 (GRCm39) Y233C probably damaging Het
Slit1 T A 19: 41,622,639 (GRCm39) I707F probably damaging Het
Sp4 T C 12: 118,218,174 (GRCm39) E691G possibly damaging Het
Sun2 G T 15: 79,623,225 (GRCm39) probably null Het
Syne3 T C 12: 104,912,901 (GRCm39) T723A not run Het
Tcp1 T A 17: 13,141,540 (GRCm39) F340I possibly damaging Het
Tmem39b A T 4: 129,587,694 (GRCm39) V39D probably damaging Het
Tmtc3 A T 10: 100,286,214 (GRCm39) Y536* probably null Het
Tnfrsf11a A T 1: 105,755,094 (GRCm39) T389S probably damaging Het
Ttn T C 2: 76,598,873 (GRCm39) T19347A possibly damaging Het
Vmn1r68 A G 7: 10,261,553 (GRCm39) S182P probably benign Het
Vmn2r95 A G 17: 18,660,352 (GRCm39) T255A probably benign Het
Wdr59 T C 8: 112,219,394 (GRCm39) Y221C 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
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
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'- GAGCGGTCCCCAGAAATATCTAC -3'
(R):5'- AGCAGTTGACTGTCTTGAGG -3'

Sequencing Primer
(F):5'- GGTCCCCAGAAATATCTACCAGTTTC -3'
(R):5'- CTTGAGGGGTGGTAGGAGCAAC -3'
Posted On 2019-10-24