Incidental Mutation 'R9354:Pick1'
ID 708294
Institutional Source Beutler Lab
Gene Symbol Pick1
Ensembl Gene ENSMUSG00000116121
Gene Name protein interacting with C kinase 1
Synonyms Prkcabp
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R9354 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 79113373-79133666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79123848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 73 (V73A)
Ref Sequence ENSEMBL: ENSMUSP00000018295 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018295] [ENSMUST00000053926] [ENSMUST00000163571] [ENSMUST00000166155]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000018295
AA Change: V73A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: V73A

DomainStartEndE-ValueType
PDZ 31 105 2.12e-13 SMART
Arfaptin 117 352 1.69e-122 SMART
low complexity region 380 391 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000053926
AA Change: V73A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121
AA Change: V73A

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 damaging
Transcript: ENSMUST00000163571
AA Change: V73A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: V73A

DomainStartEndE-ValueType
PDZ 31 105 2.12e-13 SMART
Arfaptin 117 352 1.69e-122 SMART
low complexity region 380 391 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166155
AA Change: V73A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: V73A

DomainStartEndE-ValueType
PDZ 31 105 2.12e-13 SMART
Arfaptin 117 352 1.69e-122 SMART
low complexity region 380 391 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,873 (GRCm39) Q181R unknown Het
Acsl1 T G 8: 46,966,753 (GRCm39) C242G probably benign Het
Agap2 A C 10: 126,923,104 (GRCm39) N646T unknown Het
Ankrd44 A T 1: 54,687,438 (GRCm39) *994R probably null Het
Apol7c C T 15: 77,410,112 (GRCm39) R278H possibly damaging Het
Birc6 A G 17: 74,921,401 (GRCm39) E2166G probably benign Het
Caskin2 G A 11: 115,693,468 (GRCm39) T528M probably damaging Het
Ccdc30 G T 4: 119,230,850 (GRCm39) P15Q possibly damaging Het
Cemip2 A G 19: 21,779,389 (GRCm39) S400G probably benign Het
Cenpf G A 1: 189,379,114 (GRCm39) T45I Het
Cep68 T C 11: 20,188,569 (GRCm39) E612G probably damaging Het
Chpf2 T C 5: 24,796,392 (GRCm39) L446P probably damaging Het
Ctsl A T 13: 64,516,850 (GRCm39) Y40N probably damaging Het
Dis3l T C 9: 64,221,922 (GRCm39) N496S probably benign Het
Espnl A T 1: 91,272,323 (GRCm39) D561V probably benign Het
Flnb T A 14: 7,818,411 (GRCm38) L87Q probably benign Het
Gbp9 T A 5: 105,232,825 (GRCm39) I276F possibly damaging Het
Gid4 G T 11: 60,308,618 (GRCm39) R46L probably benign Het
Gper1 G A 5: 139,412,029 (GRCm39) D125N possibly damaging Het
Gpr146 A G 5: 139,378,366 (GRCm39) N56S probably benign Het
Grhpr G T 4: 44,981,465 (GRCm39) R5L probably benign Het
Gstm6 A T 3: 107,850,018 (GRCm39) N59K probably damaging Het
Hdac7 A T 15: 97,694,769 (GRCm39) F802L probably damaging Het
Igfbpl1 A T 4: 45,816,348 (GRCm39) V159D probably damaging Het
Itga8 T C 2: 12,237,668 (GRCm39) S351G possibly damaging Het
Itgad C A 7: 127,785,146 (GRCm39) H354Q probably damaging Het
Jmjd1c T C 10: 67,059,875 (GRCm39) S641P probably damaging Het
Klhl33 T C 14: 51,130,385 (GRCm39) T110A probably benign Het
Lcorl T A 5: 45,890,968 (GRCm39) K545* probably null Het
Lilra6 A G 7: 3,914,628 (GRCm39) S546P probably damaging Het
Ly6c1 T A 15: 74,916,471 (GRCm39) I124F probably benign Het
Map4 A G 9: 109,897,847 (GRCm39) T858A probably benign Het
Marchf5 G T 19: 37,185,264 (GRCm39) probably benign Het
Muc2 A G 7: 141,307,157 (GRCm39) K769E Het
Myh6 T A 14: 55,200,992 (GRCm39) I157F probably damaging Het
Naip1 A G 13: 100,563,994 (GRCm39) V389A probably benign Het
Or52b3 G A 7: 102,204,397 (GRCm39) R302H possibly damaging Het
Pcdhgc4 A G 18: 37,949,640 (GRCm39) H352R probably benign Het
Pde8a C T 7: 80,982,619 (GRCm39) T746I probably damaging Het
Ppwd1 C T 13: 104,342,080 (GRCm39) V625I probably benign Het
Prss59 A G 6: 40,905,473 (GRCm39) V61A probably damaging Het
Prune2 A G 19: 17,099,986 (GRCm39) E1830G probably benign Het
Ralgapb A G 2: 158,279,313 (GRCm39) N445S possibly damaging Het
Rapgef6 G T 11: 54,510,749 (GRCm39) R222L possibly damaging Het
Rorc A T 3: 94,280,170 (GRCm39) probably benign Het
Rps6ka1 A C 4: 133,594,432 (GRCm39) probably null Het
Sdk2 T C 11: 113,725,757 (GRCm39) Y1164C probably benign Het
Sema5a T A 15: 32,562,902 (GRCm39) Y304* probably null Het
Slc26a4 A T 12: 31,585,255 (GRCm39) V513D possibly damaging Het
Slf2 T A 19: 44,936,471 (GRCm39) D705E probably damaging Het
Spag17 A G 3: 99,934,905 (GRCm39) T704A probably benign Het
Tex15 C G 8: 34,063,344 (GRCm39) Q925E possibly damaging Het
Trim38 A T 13: 23,969,875 (GRCm39) T145S probably benign Het
Trpm3 G A 19: 22,425,696 (GRCm39) C17Y probably benign Het
Usp42 A G 5: 143,701,027 (GRCm39) Y999H probably benign Het
Vat1 A C 11: 101,351,441 (GRCm39) M300R probably benign Het
Vmn1r85 T A 7: 12,818,725 (GRCm39) I140F probably damaging Het
Vmn2r57 T C 7: 41,049,663 (GRCm39) I695M probably benign Het
Wnk1 C T 6: 119,942,660 (GRCm39) R789Q unknown Het
Zswim5 G A 4: 116,844,232 (GRCm39) G1090D 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
R6047:Pick1 UTSW 15 79,139,895 (GRCm39) unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- AAGAGTGGCGAGGTTTTCTC -3'
(R):5'- TGGGAACTCACAGGAATCCAG -3'

Sequencing Primer
(F):5'- GGCGAGGTTTTCTCTTGCC -3'
(R):5'- GGAATGTGTCCCTCATAATGCTC -3'
Posted On 2022-04-18