Incidental Mutation 'R6852:Prickle2'
ID 535017
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 045023-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.530) question?
Stock # R6852 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 92347889-92683136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 92353525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 647 (D647G)
Ref Sequence ENSEMBL: ENSMUSP00000109074 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032093] [ENSMUST00000113445] [ENSMUST00000113446] [ENSMUST00000113447]
AlphaFold Q80Y24
Predicted Effect probably benign
Transcript: ENSMUST00000032093
AA Change: D703G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032093
Gene: ENSMUSG00000030020
AA Change: D703G

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: D647G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109072
Gene: ENSMUSG00000030020
AA Change: D647G

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: D647G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109073
Gene: ENSMUSG00000030020
AA Change: D647G

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: D647G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000109074
Gene: ENSMUSG00000030020
AA Change: D647G

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C T 3: 137,770,930 (GRCm39) Q40* probably null Het
1700034E13Rik T C 18: 52,796,705 (GRCm39) V81A probably damaging Het
A630089N07Rik A G 16: 97,866,855 (GRCm39) I369T probably benign Het
Aatk T A 11: 119,901,294 (GRCm39) Q977L probably benign Het
Abca4 A T 3: 121,928,844 (GRCm39) Q144H probably damaging Het
Ampd3 T C 7: 110,401,753 (GRCm39) F416L probably benign Het
Anks1b A G 10: 90,096,516 (GRCm39) E425G probably damaging Het
Atm A G 9: 53,393,730 (GRCm39) S1737P possibly damaging Het
Bsph1 T A 7: 13,204,255 (GRCm39) probably null Het
Cabyr C T 18: 12,887,154 (GRCm39) P262S probably benign Het
Cdc14a G A 3: 116,122,325 (GRCm39) P214L possibly damaging Het
Cep128 C A 12: 91,333,116 (GRCm39) probably null Het
Cfh T A 1: 140,075,487 (GRCm39) R250S probably damaging Het
Ddx39a T C 8: 84,449,646 (GRCm39) I417T probably benign Het
Dgka T A 10: 128,558,408 (GRCm39) K548M probably damaging Het
Efr3a G A 15: 65,701,679 (GRCm39) V198I probably benign Het
Elapor1 T C 3: 108,389,654 (GRCm39) E203G probably damaging Het
Epg5 C T 18: 78,056,106 (GRCm39) T1760I probably damaging Het
Fat1 T C 8: 45,488,635 (GRCm39) V3472A possibly damaging Het
Fbxo48 T A 11: 16,903,402 (GRCm39) N9K probably benign Het
Fcgbpl1 T A 7: 27,846,560 (GRCm39) I1084N probably damaging Het
Fer1l6 A T 15: 58,466,727 (GRCm39) H833L probably damaging Het
Foxn1 G T 11: 78,251,786 (GRCm39) Q482K probably benign Het
Fstl5 A G 3: 76,615,162 (GRCm39) D741G probably damaging Het
Gmip C T 8: 70,270,641 (GRCm39) Q55* probably null Het
H2-T5 T C 17: 36,478,965 (GRCm39) N95D possibly damaging Het
Hapln2 G A 3: 87,929,958 (GRCm39) T306M possibly damaging Het
Kat6a T A 8: 23,428,676 (GRCm39) S1344T probably benign Het
Kctd1 C T 18: 15,119,401 (GRCm39) D705N possibly damaging Het
Lhx9 ACC ACCC 1: 138,769,544 (GRCm39) probably null Het
Micall2 G T 5: 139,701,548 (GRCm39) A482D possibly damaging Het
Mindy3 T A 2: 12,424,063 (GRCm39) M1L possibly damaging Het
Mtdh A G 15: 34,136,867 (GRCm39) E352G probably damaging Het
Muc5ac G A 7: 141,370,644 (GRCm39) V3219I probably benign Het
Myh4 A G 11: 67,143,794 (GRCm39) probably null Het
Ncor1 A G 11: 62,234,071 (GRCm39) I377T probably damaging Het
Oog4 C A 4: 143,165,679 (GRCm39) C156F possibly damaging Het
Or5m9 A T 2: 85,876,948 (GRCm39) I41F probably benign Het
Pcyt1a T C 16: 32,288,938 (GRCm39) S260P probably damaging Het
Phf3 A T 1: 30,843,711 (GRCm39) F1749L probably damaging Het
Raver2 T C 4: 100,990,787 (GRCm39) S387P probably benign Het
Relch T C 1: 105,681,320 (GRCm39) L1184P probably damaging Het
Rgs19 A G 2: 181,330,941 (GRCm39) S231P possibly damaging Het
Rpl8 G T 15: 76,790,149 (GRCm39) R198L probably benign Het
Sacs T A 14: 61,416,737 (GRCm39) S77T possibly damaging Het
Samd14 G A 11: 94,912,280 (GRCm39) G219D probably damaging Het
Sec16a C T 2: 26,331,431 (GRCm39) V195M probably damaging Het
Sesn2 C T 4: 132,221,113 (GRCm39) V453I possibly damaging Het
Slc46a3 A T 5: 147,822,970 (GRCm39) C291S probably damaging Het
Smarcal1 A G 1: 72,630,332 (GRCm39) T129A possibly damaging Het
Sorl1 T A 9: 41,935,694 (GRCm39) R1041W possibly damaging Het
Sptlc3 T C 2: 139,408,506 (GRCm39) I207T probably benign Het
Srgap3 T C 6: 112,793,622 (GRCm39) D118G probably damaging Het
Tas2r117 T A 6: 132,779,892 (GRCm39) V10D probably benign Het
Tbcd A G 11: 121,500,206 (GRCm39) K1111E probably benign Het
Tor1aip1 A T 1: 155,911,566 (GRCm39) L139Q probably damaging Het
Trbv23 T C 6: 41,193,181 (GRCm39) V23A probably damaging Het
Ttll3 AAGTA AAGTATAGTA 6: 113,376,120 (GRCm39) probably null Het
Ttll3 GGCAAAG GGCAAAGCAAAG 6: 113,376,116 (GRCm39) probably null Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Vmn1r42 T G 6: 89,821,769 (GRCm39) T267P possibly damaging Het
Vmn2r53 C A 7: 12,340,441 (GRCm39) V11F probably damaging Het
Vmn2r67 T C 7: 84,801,361 (GRCm39) M192V probably damaging Het
Vmn2r78 T C 7: 86,603,811 (GRCm39) V663A probably damaging Het
Zdhhc1 C T 8: 106,203,704 (GRCm39) G156S possibly damaging Het
Zfp318 AGAAG AGAAGAGGAAG 17: 46,723,464 (GRCm39) probably benign Het
Zfp318 GAAGAA GAAGAAAAAGAA 17: 46,723,459 (GRCm39) probably benign Het
Zfp318 AAGAAG AAGAAGTAGAAG 17: 46,723,460 (GRCm39) probably benign Het
Zfp560 A G 9: 20,259,339 (GRCm39) C508R probably damaging Het
Zfp654 G A 16: 64,606,961 (GRCm39) L414F probably damaging Het
Zfp872 A T 9: 22,111,355 (GRCm39) Y278F probably damaging Het
Zscan20 T C 4: 128,483,515 (GRCm39) S385G 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
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'- TTCAACCGAGCGATGACCTC -3'
(R):5'- CTCTGGAATGAATGTCTCGGAAAAG -3'

Sequencing Primer
(F):5'- AGCGATGACCTCTCGCTC -3'
(R):5'- GCTGAGCAACATGGGCACTC -3'
Posted On 2018-09-12