Incidental Mutation 'R5280:Prickle2'
ID 404160
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 042840-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R5280 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 92353191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 758 (L758F)
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: L814F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: L814F

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: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: L758F

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: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: L758F

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: L758F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: L758F

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: 95.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 C T 17: 43,737,225 (GRCm39) T218I probably damaging Het
Adgrv1 C A 13: 81,545,584 (GRCm39) S5567I possibly damaging Het
Alpk1 T C 3: 127,474,813 (GRCm39) T397A probably benign Het
Atp9a T A 2: 168,481,908 (GRCm39) Y880F possibly damaging Het
Celsr1 T C 15: 85,814,747 (GRCm39) T1905A probably benign Het
Chd8 G A 14: 52,442,582 (GRCm39) A656V possibly damaging Het
Dffa A G 4: 149,202,391 (GRCm39) N265S probably benign Het
Frrs1 A G 3: 116,674,545 (GRCm39) D109G probably benign Het
Gm20821 A T Y: 9,783,963 (GRCm39) K195M probably damaging Het
Ifi207 A T 1: 173,557,870 (GRCm39) N289K unknown Het
Kank1 T C 19: 25,388,669 (GRCm39) F781L probably benign Het
Lrba A T 3: 86,232,329 (GRCm39) M759L possibly damaging Het
Lrp8 A G 4: 107,711,518 (GRCm39) Y307C probably damaging Het
Neb T C 2: 52,037,168 (GRCm39) H6847R probably damaging Het
Or2ag19 G A 7: 106,443,902 (GRCm39) C28Y probably benign Het
Or52ab4 T C 7: 102,987,708 (GRCm39) V149A probably benign Het
Pcdha5 C A 18: 37,094,755 (GRCm39) Y421* probably null Het
Pclo T A 5: 14,590,731 (GRCm39) D1010E unknown Het
Pld2 A T 11: 70,443,585 (GRCm39) D449V probably damaging Het
Ppfia1 C A 7: 144,038,832 (GRCm39) M1032I possibly damaging Het
Sarm1 A G 11: 78,374,302 (GRCm39) V564A probably damaging Het
Taf1b C A 12: 24,599,437 (GRCm39) F398L probably benign Het
Tll2 A G 19: 41,105,696 (GRCm39) I361T possibly damaging Het
Tmem260 T C 14: 48,742,716 (GRCm39) V517A probably benign Het
Usp24 A G 4: 106,198,411 (GRCm39) K106E probably benign Het
Vcan C A 13: 89,838,405 (GRCm39) V2380F probably benign Het
Vmn2r65 A G 7: 84,595,542 (GRCm39) S381P probably damaging Het
Vmn2r73 T C 7: 85,507,155 (GRCm39) D719G probably damaging Het
Wdr5b T C 16: 35,862,202 (GRCm39) V107A probably benign Het
Wdr7 G T 18: 64,120,383 (GRCm39) V1475F probably benign Het
Ythdc2 A G 18: 44,993,688 (GRCm39) D911G probably damaging Het
Zbtb32 T A 7: 30,289,629 (GRCm39) E11V probably damaging Het
Zfp563 T G 17: 33,323,812 (GRCm39) Y136D 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
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
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'- CAACTGTCCTCTGCCACCTAAG -3'
(R):5'- ACGTTCTCGCTCAGACAAC -3'

Sequencing Primer
(F):5'- ACACCGTAAGAGCTGTATTTGTGC -3'
(R):5'- TCGCTCAGACAACGCCCTG -3'
Posted On 2016-07-22