Incidental Mutation 'R6047:Pick1'
ID 483358
Institutional Source Beutler Lab
Gene Symbol Pick1
Ensembl Gene ENSMUSG00000116121
Gene Name protein interacting with C kinase 1
Synonyms Prkcabp
MMRRC Submission 044215-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R6047 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 79113373-79133666 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 79139895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127816 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000165408] [ENSMUST00000169462]
AlphaFold no structure available at present
PDB Structure I-BAR OF PinkBAR [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000039752
SMART Domains Protein: ENSMUSP00000040522
Gene: ENSMUSG00000032988

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:MFS_1 20 349 1.3e-28 PFAM
transmembrane domain 353 372 N/A INTRINSIC
transmembrane domain 387 409 N/A INTRINSIC
low complexity region 465 480 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000053926
AA Change: H398R
SMART Domains Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: H398R

DomainStartEndE-ValueType
PDZ 31 105 2.12e-13 SMART
Arfaptin 117 363 1.18e-103 SMART
GLECT 393 530 7.99e-3 SMART
Gal-bind_lectin 399 530 4.49e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165408
SMART Domains Protein: ENSMUSP00000127816
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 226 1e-90 PFAM
low complexity region 232 244 N/A INTRINSIC
SH3 327 386 2.54e-9 SMART
low complexity region 389 409 N/A INTRINSIC
low complexity region 443 472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169462
SMART Domains Protein: ENSMUSP00000130698
Gene: ENSMUSG00000018126

DomainStartEndE-ValueType
Pfam:IMD 16 226 3.8e-83 PFAM
low complexity region 232 244 N/A INTRINSIC
low complexity region 258 299 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230477
Meta Mutation Damage Score 0.0948 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.6%
Validation Efficiency 100% (36/36)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a PDZ domain, through which it interacts with protein kinase C, alpha (PRKCA). This protein may function as an adaptor that binds to and organizes the subcellular localization of a variety of membrane proteins. It has been shown to interact with multiple glutamate receptor subtypes, monoamine plasma membrane transporters, as well as non-voltage gated sodium channels, and may target PRKCA to these membrane proteins and thus regulate their distribution and function. This protein has also been found to act as an anchoring protein that specifically targets PRKCA to mitochondria in a ligand-specific manner. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show impaired synaptic plasticity and lack of long-term depression; males are infertile due to reduced sperm count and impaired sperm motility, and display small testes and seminiferous tubules, malformed acrosomes, globozoospermia, and male germ cell apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,856,066 (GRCm39) I58T probably damaging Het
Adgrb2 G T 4: 129,912,498 (GRCm39) G1208C probably damaging Het
Antxrl T C 14: 33,775,433 (GRCm39) probably benign Het
Appl2 C T 10: 83,448,765 (GRCm39) probably null Het
Bloc1s2 T C 19: 44,130,629 (GRCm39) I112V possibly damaging Het
Cblb G T 16: 51,932,611 (GRCm39) probably null Het
Cdk9 T C 2: 32,598,285 (GRCm39) probably null Het
Dok7 G A 5: 35,236,651 (GRCm39) G206D probably damaging Het
Ftsj3 C T 11: 106,143,144 (GRCm39) R390H probably damaging Het
Gpr179 G T 11: 97,229,242 (GRCm39) P971Q probably damaging Het
Hic1 A T 11: 75,057,675 (GRCm39) S405T possibly damaging Het
Ifngr1 T C 10: 19,482,061 (GRCm39) L217P probably damaging Het
Insrr A G 3: 87,711,483 (GRCm39) K468E probably damaging Het
Lce1j G C 3: 92,696,503 (GRCm39) R92G unknown Het
Lrp12 T C 15: 39,735,463 (GRCm39) E823G probably damaging Het
Lrp1b A G 2: 40,527,787 (GRCm39) I98T probably benign Het
Mbd3l2 A T 9: 18,356,212 (GRCm39) H179L possibly damaging Het
Med24 A T 11: 98,598,591 (GRCm39) C691* probably null Het
Mical1 T C 10: 41,357,703 (GRCm39) probably null Het
Msantd2 A T 9: 37,434,738 (GRCm39) Y326F probably damaging Het
Nfyc T A 4: 120,636,314 (GRCm39) probably null Het
Nrg3 T A 14: 38,119,309 (GRCm39) probably null Het
Nt5c3 G A 6: 56,859,964 (GRCm39) S291L probably damaging Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pdia5 T C 16: 35,217,848 (GRCm39) K512E probably damaging Het
Pfpl T C 19: 12,406,597 (GRCm39) F283L probably damaging Het
Pkd1 T C 17: 24,814,059 (GRCm39) V4143A probably damaging Het
Ptprc C T 1: 138,028,779 (GRCm39) probably null Het
Scn10a A G 9: 119,451,897 (GRCm39) F1342S probably benign Het
Slc17a7 A T 7: 44,822,830 (GRCm39) I436F probably benign Het
Slc34a1 G T 13: 55,559,884 (GRCm39) A403S probably damaging Het
Stmn3 A T 2: 180,950,952 (GRCm39) Y35N possibly damaging Het
Tldc2 A G 2: 156,938,382 (GRCm39) E207G probably damaging Het
Unc79 A G 12: 103,027,717 (GRCm39) N436S probably damaging Het
Uty G T Y: 1,158,288 (GRCm39) P538Q probably damaging Het
Zzef1 A G 11: 72,756,921 (GRCm39) D1142G probably damaging Het
Other mutations in Pick1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Pick1 APN 15 79,131,457 (GRCm39) splice site probably benign
IGL03137:Pick1 APN 15 79,129,501 (GRCm39) missense possibly damaging 0.61
IGL03366:Pick1 APN 15 79,125,481 (GRCm39) missense probably damaging 0.97
FR4976:Pick1 UTSW 15 79,140,146 (GRCm39) frame shift probably null
R1590:Pick1 UTSW 15 79,129,501 (GRCm39) missense probably benign 0.40
R2114:Pick1 UTSW 15 79,139,781 (GRCm39) unclassified probably benign
R2115:Pick1 UTSW 15 79,139,781 (GRCm39) unclassified probably benign
R2219:Pick1 UTSW 15 79,123,899 (GRCm39) missense probably damaging 1.00
R4624:Pick1 UTSW 15 79,130,666 (GRCm39) missense probably damaging 1.00
R4646:Pick1 UTSW 15 79,133,137 (GRCm39) missense probably benign 0.26
R4796:Pick1 UTSW 15 79,139,810 (GRCm39) unclassified probably benign
R5420:Pick1 UTSW 15 79,133,040 (GRCm39) missense probably benign 0.01
R5869:Pick1 UTSW 15 79,133,095 (GRCm39) missense probably benign 0.02
R6128:Pick1 UTSW 15 79,123,896 (GRCm39) missense probably damaging 0.98
R6291:Pick1 UTSW 15 79,135,928 (GRCm39) splice site probably null
R7042:Pick1 UTSW 15 79,132,965 (GRCm39) missense probably damaging 0.98
R7564:Pick1 UTSW 15 79,139,781 (GRCm39) missense unknown
R8211:Pick1 UTSW 15 79,132,930 (GRCm39) missense probably damaging 1.00
R8870:Pick1 UTSW 15 79,140,107 (GRCm39) missense unknown
R9354:Pick1 UTSW 15 79,123,848 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- TGTGACCTCCAAGTTGCCTG -3'
(R):5'- AAGAGTTTCTGAGGAGCTGCAG -3'

Sequencing Primer
(F):5'- CATGAGAGCTTGCCCATGTG -3'
(R):5'- AGCTGCAGGTCTGTGAACAC -3'
Posted On 2017-07-14