Incidental Mutation 'R0134:Prickle1'
ID 21841
Institutional Source Beutler Lab
Gene Symbol Prickle1
Ensembl Gene ENSMUSG00000036158
Gene Name prickle planar cell polarity protein 1
Synonyms 1110058P22Rik, mpk1, Pk1, b2b019Clo
MMRRC Submission 038419-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0134 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 15
Chromosomal Location 93396995-93493772 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 93408658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 47 (L47P)
Ref Sequence ENSEMBL: ENSMUSP00000104878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048982] [ENSMUST00000109255]
AlphaFold Q3U5C7
Predicted Effect possibly damaging
Transcript: ENSMUST00000048982
AA Change: L47P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000049204
Gene: ENSMUSG00000036158
AA Change: L47P

DomainStartEndE-ValueType
Pfam:PET 16 116 2.2e-46 PFAM
LIM 125 182 1.73e-9 SMART
LIM 190 242 1.13e-13 SMART
LIM 250 305 2.37e-7 SMART
low complexity region 314 343 N/A INTRINSIC
low complexity region 667 684 N/A INTRINSIC
low complexity region 758 776 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109255
AA Change: L47P

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000104878
Gene: ENSMUSG00000036158
AA Change: L47P

DomainStartEndE-ValueType
Pfam:PET 13 118 3.7e-46 PFAM
LIM 125 182 1.73e-9 SMART
LIM 190 242 1.13e-13 SMART
LIM 250 305 2.37e-7 SMART
low complexity region 314 343 N/A INTRINSIC
low complexity region 667 684 N/A INTRINSIC
low complexity region 758 776 N/A INTRINSIC
low complexity region 817 827 N/A INTRINSIC
Meta Mutation Damage Score 0.1515 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.4%
  • 20x: 93.3%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]
PHENOTYPE: Heterozygous null or point mutations result in decreased seizure threshold. Homozygous null mice display early embryonic lethality associated with altered epiblast apical-basal polarity, failed anterior migration of the distal visceral endoderm, and lackof mesoderm and primitive streak formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059E24Rik T C 19: 21,575,565 (GRCm39) probably benign Het
Abca16 T A 7: 120,139,378 (GRCm39) L1470Q probably damaging Het
Arhgap23 G T 11: 97,335,154 (GRCm39) V70L probably benign Het
Bicd1 T C 6: 149,414,448 (GRCm39) I387T probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
Cd59b G A 2: 103,909,286 (GRCm39) probably null Het
Ddx50 A T 10: 62,457,156 (GRCm39) probably benign Het
Dele1 G A 18: 38,394,317 (GRCm39) V505I probably benign Het
Dnlz T C 2: 26,241,380 (GRCm39) N116S probably damaging Het
Efcab14 T C 4: 115,597,728 (GRCm39) F108L probably damaging Het
Esyt2 A G 12: 116,331,330 (GRCm39) N736S probably damaging Het
Exoc4 A G 6: 33,948,881 (GRCm39) D908G possibly damaging Het
Garnl3 T C 2: 32,896,816 (GRCm39) T608A possibly damaging Het
Hdac2 T A 10: 36,865,180 (GRCm39) D131E probably benign Het
Hes1 T C 16: 29,886,068 (GRCm39) V224A probably damaging Het
Hps1 G T 19: 42,754,619 (GRCm39) Q277K probably damaging Het
Ighv15-2 T G 12: 114,528,657 (GRCm39) probably benign Het
Il3 A G 11: 54,156,506 (GRCm39) probably null Het
Itgae A C 11: 73,002,168 (GRCm39) M91L probably benign Het
Kctd21 T A 7: 96,997,298 (GRCm39) I257N probably benign Het
Kif16b A T 2: 142,514,295 (GRCm39) S1215T probably benign Het
Lhx9 A T 1: 138,766,417 (GRCm39) C124S probably damaging Het
Lipo4 A G 19: 33,479,006 (GRCm39) V278A probably benign Het
Lrp1b T C 2: 40,486,995 (GRCm39) E142G probably damaging Het
Macf1 T C 4: 123,326,636 (GRCm39) M2835V possibly damaging Het
Map9 G A 3: 82,267,290 (GRCm39) probably benign Het
Miox C T 15: 89,218,657 (GRCm39) probably benign Het
Mndal A T 1: 173,685,079 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nepn A T 10: 52,276,533 (GRCm39) T29S probably damaging Het
Nlgn1 C T 3: 25,490,089 (GRCm39) C546Y probably damaging Het
Or14a260 A G 7: 85,984,803 (GRCm39) I267T probably benign Het
Or8k53 T C 2: 86,178,072 (GRCm39) I13V possibly damaging Het
Pdgfra A G 5: 75,327,172 (GRCm39) D123G probably damaging Het
Plekhn1 T C 4: 156,312,700 (GRCm39) R53G probably benign Het
Pnp2 T C 14: 51,200,634 (GRCm39) F100S probably damaging Het
Ptar1 T A 19: 23,695,459 (GRCm39) C309S probably benign Het
Rimoc1 T C 15: 4,015,776 (GRCm39) K263E probably damaging Het
Rxfp1 A G 3: 79,564,783 (GRCm39) S327P probably damaging Het
Siah2 A G 3: 58,583,536 (GRCm39) V250A probably damaging Het
Siglecg G A 7: 43,060,595 (GRCm39) G325D probably damaging Het
Slc10a7 T A 8: 79,423,787 (GRCm39) probably null Het
Slc9a1 A G 4: 133,147,916 (GRCm39) K645E probably benign Het
Smarca4 T C 9: 21,548,620 (GRCm39) L302P probably damaging Het
Smyd1 G T 6: 71,193,749 (GRCm39) T392N probably damaging Het
Snrnp40 C G 4: 130,271,836 (GRCm39) probably null Het
Tenm3 A T 8: 49,127,507 (GRCm39) L57Q probably damaging Het
Tep1 C T 14: 51,067,150 (GRCm39) V2269I possibly damaging Het
Tpd52l1 A G 10: 31,255,252 (GRCm39) S32P probably damaging Het
Tsfm A G 10: 126,858,798 (GRCm39) probably benign Het
Ttn T A 2: 76,540,468 (GRCm39) R34173W probably damaging Het
Ttn C A 2: 76,623,474 (GRCm39) V15368L possibly damaging Het
Vmn2r13 C A 5: 109,322,915 (GRCm39) V125L probably benign Het
Vps13b T C 15: 35,887,407 (GRCm39) I3272T probably benign Het
Zfp108 A G 7: 23,959,892 (GRCm39) H161R probably benign Het
Zfp518b A G 5: 38,832,002 (GRCm39) M1T probably null Het
Other mutations in Prickle1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Prickle1 APN 15 93,398,662 (GRCm39) missense probably benign 0.29
IGL01641:Prickle1 APN 15 93,398,453 (GRCm39) missense probably benign 0.05
IGL01917:Prickle1 APN 15 93,401,408 (GRCm39) missense probably damaging 0.99
IGL02124:Prickle1 APN 15 93,401,027 (GRCm39) missense probably damaging 1.00
IGL02754:Prickle1 APN 15 93,399,034 (GRCm39) missense possibly damaging 0.94
P0028:Prickle1 UTSW 15 93,398,783 (GRCm39) missense probably damaging 1.00
R0189:Prickle1 UTSW 15 93,400,900 (GRCm39) nonsense probably null
R0225:Prickle1 UTSW 15 93,408,658 (GRCm39) missense possibly damaging 0.63
R0556:Prickle1 UTSW 15 93,398,662 (GRCm39) missense probably benign 0.29
R1144:Prickle1 UTSW 15 93,410,342 (GRCm39) missense probably damaging 0.99
R1440:Prickle1 UTSW 15 93,402,955 (GRCm39) missense possibly damaging 0.85
R1458:Prickle1 UTSW 15 93,398,519 (GRCm39) missense probably damaging 1.00
R2420:Prickle1 UTSW 15 93,401,518 (GRCm39) missense probably damaging 1.00
R2656:Prickle1 UTSW 15 93,401,251 (GRCm39) missense probably benign 0.32
R2864:Prickle1 UTSW 15 93,407,159 (GRCm39) missense probably damaging 0.99
R4301:Prickle1 UTSW 15 93,406,517 (GRCm39) missense possibly damaging 0.82
R4912:Prickle1 UTSW 15 93,398,429 (GRCm39) missense probably benign 0.00
R5085:Prickle1 UTSW 15 93,398,783 (GRCm39) missense probably damaging 1.00
R5773:Prickle1 UTSW 15 93,406,478 (GRCm39) missense probably damaging 1.00
R5836:Prickle1 UTSW 15 93,400,898 (GRCm39) nonsense probably null
R5902:Prickle1 UTSW 15 93,408,553 (GRCm39) missense probably null 0.82
R7022:Prickle1 UTSW 15 93,398,752 (GRCm39) missense possibly damaging 0.82
R7474:Prickle1 UTSW 15 93,406,552 (GRCm39) missense possibly damaging 0.88
R7851:Prickle1 UTSW 15 93,398,440 (GRCm39) missense possibly damaging 0.49
R9300:Prickle1 UTSW 15 93,398,749 (GRCm39) missense possibly damaging 0.89
R9405:Prickle1 UTSW 15 93,400,861 (GRCm39) nonsense probably null
X0066:Prickle1 UTSW 15 93,401,075 (GRCm39) missense probably benign 0.00
X0067:Prickle1 UTSW 15 93,406,562 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- GGTGCATTTTAAGAGAGGCCGAGC -3'
(R):5'- GGTCACTTACAGAAGTCACCCAGC -3'

Sequencing Primer
(F):5'- agctgggacttcagaaagac -3'
(R):5'- GCATTCCTGAGGAGCAATTTAGC -3'
Posted On 2013-04-12