Incidental Mutation 'R5420:Pick1'
ID 428015
Institutional Source Beutler Lab
Gene Symbol Pick1
Ensembl Gene ENSMUSG00000116121
Gene Name protein interacting with C kinase 1
Synonyms Prkcabp
MMRRC Submission 042988-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.602) question?
Stock # R5420 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 79113373-79133666 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79133040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 367 (T367A)
Ref Sequence ENSEMBL: ENSMUSP00000129468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018295] [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000163571] [ENSMUST00000166155]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000018295
AA Change: T367A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206
AA Change: T367A

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 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 probably benign
Transcript: ENSMUST00000053926
SMART Domains Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121

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 noncoding transcript
Transcript: ENSMUST00000113954
Predicted Effect probably benign
Transcript: ENSMUST00000163571
AA Change: T367A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206
AA Change: T367A

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 noncoding transcript
Transcript: ENSMUST00000165609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171581
Predicted Effect probably benign
Transcript: ENSMUST00000166155
AA Change: T367A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206
AA Change: T367A

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 noncoding transcript
Transcript: ENSMUST00000168513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230477
Meta Mutation Damage Score 0.0818 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 97% (66/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 TGCGCAGC T 19: 4,915,372 (GRCm39) probably null Het
Adamts1 A T 16: 85,596,497 (GRCm39) C117* probably null Het
Adgrg6 A T 10: 14,302,730 (GRCm39) Y894* probably null Het
Alas1 G T 9: 106,111,358 (GRCm39) L603I probably benign Het
Arhgap21 G T 2: 20,885,897 (GRCm39) R427S probably damaging Het
Arhgef25 A T 10: 127,023,143 (GRCm39) V88D probably benign Het
Bdp1 T C 13: 100,202,551 (GRCm39) Q691R possibly damaging Het
Bpifa6 T A 2: 153,831,250 (GRCm39) I272N probably damaging Het
Cacybp T C 1: 160,035,914 (GRCm39) probably benign Het
Capn3 T C 2: 120,325,777 (GRCm39) probably benign Het
Ccdc47 C T 11: 106,101,176 (GRCm39) R162Q probably benign Het
Cideb A C 14: 55,995,748 (GRCm39) M1R probably null Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Crebbp C T 16: 3,925,322 (GRCm39) R760H probably damaging Het
Cyp2c23 A C 19: 44,004,103 (GRCm39) probably null Het
Cyp3a13 T G 5: 137,897,243 (GRCm39) D357A probably damaging Het
Dip2b C T 15: 100,103,054 (GRCm39) probably benign Het
Ecm2 A T 13: 49,681,210 (GRCm39) R448S possibly damaging Het
Edil3 T C 13: 89,279,891 (GRCm39) Y190H probably damaging Het
Eps8l1 T G 7: 4,473,160 (GRCm39) probably null Het
Eps8l3 A T 3: 107,791,301 (GRCm39) K280* probably null Het
Fam184a A G 10: 53,509,753 (GRCm39) F1137L probably damaging Het
Fmn2 A T 1: 174,526,344 (GRCm39) R1388* probably null Het
Glt8d2 T C 10: 82,488,516 (GRCm39) K318R probably benign Het
Herc2 A T 7: 55,853,578 (GRCm39) K3690I probably damaging Het
Ifi206 T A 1: 173,308,599 (GRCm39) I466F possibly damaging Het
Jade2 T C 11: 51,709,434 (GRCm39) K525R probably benign Het
Kmt2a A T 9: 44,759,633 (GRCm39) F772I probably damaging Het
Lipi A G 16: 75,352,757 (GRCm39) V360A possibly damaging Het
Mbl1 C T 14: 40,879,153 (GRCm39) S108L possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Mrpl23 A G 7: 142,089,874 (GRCm39) T25A probably damaging Het
Mto1 T A 9: 78,360,109 (GRCm39) M199K probably benign Het
Nes A T 3: 87,884,309 (GRCm39) N812I probably damaging Het
Nfkbie T A 17: 45,871,132 (GRCm39) D261E probably benign Het
Or7e173 T C 9: 19,938,355 (GRCm39) Y293C probably damaging Het
Pakap G A 4: 57,856,062 (GRCm39) V505I probably benign Het
Pakap T A 4: 57,856,434 (GRCm39) Y588N probably damaging Het
Papola A G 12: 105,772,754 (GRCm39) I114V possibly damaging Het
Pappa T G 4: 65,254,017 (GRCm39) probably null Het
Pcdh7 T A 5: 57,877,529 (GRCm39) D361E probably damaging Het
Plbd2 A G 5: 120,632,547 (GRCm39) Y152H probably damaging Het
Ppfia2 A T 10: 106,671,562 (GRCm39) E424D possibly damaging Het
Rab7b C T 1: 131,626,164 (GRCm39) T64I probably damaging Het
Rarb T A 14: 16,434,249 (GRCm38) I310F possibly damaging Het
Rdh16f2 C T 10: 127,712,943 (GRCm39) P314S possibly damaging Het
Rpain A T 11: 70,868,516 (GRCm39) probably null Het
Rufy3 T C 5: 88,788,518 (GRCm39) *488Q probably null Het
Sash1 G A 10: 8,621,950 (GRCm39) T398I probably damaging Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Scrn1 T A 6: 54,489,048 (GRCm39) I358F probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Thbs1 G T 2: 117,943,636 (GRCm39) D85Y possibly damaging Het
Thoc2l T A 5: 104,666,225 (GRCm39) I249N probably damaging Het
Trp53 T C 11: 69,479,146 (GRCm39) probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r223 A G 13: 23,433,675 (GRCm39) R90G probably benign Het
Zfp521 A T 18: 13,977,144 (GRCm39) Y1090N probably damaging Het
Zfp677 T C 17: 21,618,175 (GRCm39) C411R 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
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
R9354:Pick1 UTSW 15 79,123,848 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGAAGCCGTCATAGTCACTG -3'
(R):5'- ATGCGCCACTATATGCCTTC -3'

Sequencing Primer
(F):5'- CATAGTCACTGGGCCTGTCTG -3'
(R):5'- TGTCCTACAGTGGTCCCG -3'
Posted On 2016-09-01