Incidental Mutation 'R1751:Pcp4'
ID 193557
Institutional Source Beutler Lab
Gene Symbol Pcp4
Ensembl Gene ENSMUSG00000090223
Gene Name Purkinje cell protein 4
Synonyms Pcp-4, Pep19, P16Rimb19
MMRRC Submission 039783-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R1751 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 96268806-96326993 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 96326689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 290 (Q290P)
Ref Sequence ENSEMBL: ENSMUSP00000109426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061739] [ENSMUST00000113795]
AlphaFold P63054
Predicted Effect probably damaging
Transcript: ENSMUST00000061739
AA Change: Q54P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000113795
AA Change: Q290P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: Q290P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IG 31 125 4.74e-5 SMART
transmembrane domain 139 161 N/A INTRINSIC
Meta Mutation Damage Score 0.0888 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
Validation Efficiency 99% (85/86)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired motor learning and abnormal synaptic plasticity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b T A 8: 43,972,948 (GRCm39) I685F probably benign Het
Alcam A T 16: 52,091,077 (GRCm39) N480K probably damaging Het
Arhgef2 A G 3: 88,551,260 (GRCm39) Q778R probably damaging Het
Ascc3 T A 10: 50,594,472 (GRCm39) I1189N probably damaging Het
AU040320 G A 4: 126,734,517 (GRCm39) G713D probably damaging Het
Bank1 G T 3: 135,940,375 (GRCm39) R203S probably benign Het
Bank1 A G 3: 135,960,698 (GRCm39) V53A probably benign Het
Cacna1g T C 11: 94,350,628 (GRCm39) S406G probably benign Het
Ccdc198 G A 14: 49,473,341 (GRCm39) T128I probably benign Het
Ccdc40 T A 11: 119,121,522 (GRCm39) probably null Het
Cdc5l A T 17: 45,718,731 (GRCm39) D628E probably benign Het
Chd3 G A 11: 69,244,727 (GRCm39) probably benign Het
Clstn3 A T 6: 124,408,958 (GRCm39) W860R probably damaging Het
Cntn4 G A 6: 106,595,371 (GRCm39) probably null Het
Coq10b A G 1: 55,100,513 (GRCm39) R66G probably damaging Het
Cpn2 A T 16: 30,078,485 (GRCm39) Y405* probably null Het
Cyp2b9 T C 7: 25,886,100 (GRCm39) V89A probably benign Het
Depdc1a T C 3: 159,228,924 (GRCm39) C559R probably damaging Het
Ephx1 C T 1: 180,822,242 (GRCm39) G101S probably damaging Het
Fam20a A T 11: 109,568,664 (GRCm39) N287K probably damaging Het
Flg A T 3: 93,187,220 (GRCm39) Y224F possibly damaging Het
Fzd8 C T 18: 9,213,643 (GRCm39) R242C probably damaging Het
Gart A C 16: 91,439,837 (GRCm39) probably benign Het
Gm11116 T C 5: 88,259,311 (GRCm39) probably benign Het
Gm5519 T C 19: 33,802,391 (GRCm39) Y145H possibly damaging Het
Gmeb1 G A 4: 131,962,198 (GRCm39) Q154* probably null Het
Gnas T A 2: 174,139,687 (GRCm39) probably benign Het
Greb1 A G 12: 16,773,439 (GRCm39) probably benign Het
Grin3a A T 4: 49,844,423 (GRCm39) V220E probably damaging Het
Gstt2 T C 10: 75,670,098 (GRCm39) D8G probably damaging Het
Gucy2c A T 6: 136,725,773 (GRCm39) probably benign Het
Igf2r A C 17: 12,916,328 (GRCm39) S1677A possibly damaging Het
Jmjd1c T C 10: 67,061,469 (GRCm39) L1274P probably benign Het
Krt13 A C 11: 100,011,926 (GRCm39) H132Q possibly damaging Het
L1td1 T C 4: 98,625,686 (GRCm39) V627A probably benign Het
Lrp6 A G 6: 134,441,531 (GRCm39) L1145S probably damaging Het
Lrrn4cl A G 19: 8,829,135 (GRCm39) T38A probably benign Het
Ly96 A G 1: 16,776,399 (GRCm39) T112A probably benign Het
Meltf G T 16: 31,702,747 (GRCm39) C158F probably damaging Het
Mycbp2 A T 14: 103,485,841 (GRCm39) H1040Q probably damaging Het
Nol8 A T 13: 49,820,884 (GRCm39) T914S probably benign Het
Npas4 G A 19: 5,038,211 (GRCm39) P199L probably benign Het
Or12d17 A T 17: 37,777,792 (GRCm39) M232L probably benign Het
Pcdh10 A T 3: 45,338,612 (GRCm39) H923L probably damaging Het
Pdlim1 C T 19: 40,240,348 (GRCm39) probably benign Het
Pias3 T C 3: 96,608,719 (GRCm39) S228P probably damaging Het
Pign A G 1: 105,580,917 (GRCm39) V154A probably benign Het
Pik3c2a A C 7: 115,945,471 (GRCm39) V1445G probably damaging Het
Plod3 T A 5: 137,019,030 (GRCm39) V305E possibly damaging Het
Plxnc1 A G 10: 94,685,677 (GRCm39) probably benign Het
Prkra G T 2: 76,477,584 (GRCm39) H40Q possibly damaging Het
Retnlg A T 16: 48,693,991 (GRCm39) D49V possibly damaging Het
Rfx2 A G 17: 57,091,754 (GRCm39) V313A probably benign Het
Robo2 A G 16: 73,831,912 (GRCm39) V256A probably damaging Het
Rtp1 A G 16: 23,250,124 (GRCm39) E163G probably damaging Het
Sbpl A G 17: 24,173,777 (GRCm39) probably null Het
Scg3 G A 9: 75,576,622 (GRCm39) T251M probably damaging Het
Setbp1 T C 18: 78,900,613 (GRCm39) D1018G probably damaging Het
Slc38a11 T A 2: 65,180,452 (GRCm39) I182F probably benign Het
Slc6a20a T A 9: 123,466,165 (GRCm39) I522F probably damaging Het
Smarca2 T C 19: 26,617,780 (GRCm39) probably benign Het
Ssbp3 G T 4: 106,904,612 (GRCm39) D336Y probably damaging Het
Stox1 T C 10: 62,495,445 (GRCm39) T943A probably damaging Het
Sun2 A G 15: 79,609,758 (GRCm39) S694P probably benign Het
Tdp1 G A 12: 99,857,602 (GRCm39) probably null Het
Tfap2a A T 13: 40,878,613 (GRCm39) I204N probably damaging Het
Tfip11 T A 5: 112,482,298 (GRCm39) W519R probably damaging Het
Tie1 T C 4: 118,333,373 (GRCm39) E831G possibly damaging Het
Tln2 C T 9: 67,193,796 (GRCm39) A1773T probably benign Het
Tmem39b A C 4: 129,586,976 (GRCm39) I78M possibly damaging Het
Trank1 T C 9: 111,220,547 (GRCm39) V2428A probably benign Het
Trim35 A G 14: 66,541,617 (GRCm39) E247G probably damaging Het
Trpc7 T A 13: 56,923,956 (GRCm39) D743V probably damaging Het
Trrap T C 5: 144,751,385 (GRCm39) probably null Het
Tsc1 A G 2: 28,566,038 (GRCm39) I485V probably damaging Het
Tsc22d1 T C 14: 76,655,542 (GRCm39) S674P probably damaging Het
Tsn A T 1: 118,228,618 (GRCm39) D201E probably damaging Het
Tsr3 T C 17: 25,461,613 (GRCm39) I317T possibly damaging Het
Tubb1 A G 2: 174,298,689 (GRCm39) S124G probably benign Het
Vmn1r192 A G 13: 22,371,441 (GRCm39) S260P probably benign Het
Vmn2r108 A T 17: 20,682,786 (GRCm39) V806E probably damaging Het
Wnt10b A T 15: 98,670,556 (GRCm39) L228Q probably damaging Het
Zfp108 C A 7: 23,961,321 (GRCm39) H637Q probably damaging Het
Predicted Primers PCR Primer
(F):5'- TGGTTGAACGAACACCTGAGCAC -3'
(R):5'- TGAGGATGAATAGCCCCACCCTAAC -3'

Sequencing Primer
(F):5'- AGCCTCGTGCATCTAGACTG -3'
(R):5'- AGTCGTCTTTAACCGCATGAG -3'
Posted On 2014-05-23