Incidental Mutation 'R5368:Picalm'
ID 429479
Institutional Source Beutler Lab
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Name phosphatidylinositol binding clathrin assembly protein
Synonyms fit1, fit-1
MMRRC Submission 043204-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R5368 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 89779418-89858655 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 89856803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 611 (*611Q)
Ref Sequence ENSEMBL: ENSMUSP00000146386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000209068] [ENSMUST00000208742]
AlphaFold Q7M6Y3
Predicted Effect probably null
Transcript: ENSMUST00000049537
AA Change: *656Q
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: *656Q

DomainStartEndE-ValueType
ENTH 20 145 2.42e-39 SMART
coiled coil region 317 349 N/A INTRINSIC
low complexity region 378 387 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000207084
AA Change: *532Q
Predicted Effect probably null
Transcript: ENSMUST00000207225
AA Change: *598Q
Predicted Effect probably null
Transcript: ENSMUST00000207484
AA Change: *661Q
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207847
Predicted Effect probably benign
Transcript: ENSMUST00000208089
Predicted Effect probably null
Transcript: ENSMUST00000208730
AA Change: *606Q
Predicted Effect probably null
Transcript: ENSMUST00000209068
AA Change: *611Q
Predicted Effect probably null
Transcript: ENSMUST00000208742
AA Change: *653Q
Meta Mutation Damage Score 0.8824 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (61/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]
PHENOTYPE: Mice homozygous for different ENU-induced mutations or knock-out alleles are small, runted and display anemia of variable severity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,925 (GRCm39) H97L possibly damaging Het
Abca9 T A 11: 110,036,372 (GRCm39) N579I probably damaging Het
Acbd3 A T 1: 180,549,660 (GRCm39) probably benign Het
Ankrd50 A T 3: 38,509,199 (GRCm39) I1056N probably damaging Het
Ceacam18 T C 7: 43,291,458 (GRCm39) V300A probably benign Het
Cfap46 C A 7: 139,207,389 (GRCm39) R1843S possibly damaging Het
D430041D05Rik A G 2: 104,078,629 (GRCm39) V1229A probably damaging Het
Dbx2 G A 15: 95,538,522 (GRCm39) S206L probably benign Het
Dnah11 A T 12: 117,918,628 (GRCm39) D1530E probably damaging Het
Ecm2 A C 13: 49,674,419 (GRCm39) T280P probably benign Het
Emc2 G A 15: 43,375,207 (GRCm39) probably null Het
Epb42 C T 2: 120,849,943 (GRCm39) V689I probably benign Het
Fam114a1 T A 5: 65,163,452 (GRCm39) M209K possibly damaging Het
Fam117a C T 11: 95,266,459 (GRCm39) S193F probably damaging Het
Foxp2 A T 6: 15,377,913 (GRCm39) probably benign Het
Frmd6 T A 12: 70,910,874 (GRCm39) C19* probably null Het
Fyb1 A G 15: 6,610,159 (GRCm39) probably null Het
Gata6 C A 18: 11,063,059 (GRCm39) H442Q possibly damaging Het
Gldc A G 19: 30,135,921 (GRCm39) S160P probably benign Het
Gm3952 A G 8: 129,472,455 (GRCm39) S1626P possibly damaging Het
Gm9762 T A 3: 78,873,742 (GRCm39) noncoding transcript Het
Gtpbp2 T C 17: 46,477,230 (GRCm39) probably benign Het
Hgd A T 16: 37,410,113 (GRCm39) T50S probably benign Het
Itpr1 C T 6: 108,364,459 (GRCm39) T22M probably damaging Het
Kif26b G A 1: 178,743,449 (GRCm39) E1182K probably damaging Het
Kirrel3 A G 9: 34,919,034 (GRCm39) E230G probably damaging Het
Leng8 A G 7: 4,142,987 (GRCm39) Y88C probably damaging Het
Lpo T C 11: 87,711,895 (GRCm39) D54G possibly damaging Het
Lypd2 G T 15: 74,604,908 (GRCm39) A29E probably benign Het
Mdn1 C T 4: 32,723,690 (GRCm39) P2542L probably damaging Het
Mical3 T C 6: 120,936,434 (GRCm39) Y1364C probably damaging Het
Mroh2b A G 15: 4,935,054 (GRCm39) N163S probably damaging Het
Mtf1 G A 4: 124,718,872 (GRCm39) C295Y probably damaging Het
Nbn T A 4: 15,969,391 (GRCm39) L212Q probably damaging Het
Obscn A T 11: 58,959,852 (GRCm39) probably null Het
Or10ag56 T A 2: 87,139,126 (GRCm39) probably null Het
Or4c110 A G 2: 88,832,435 (GRCm39) S66P probably damaging Het
Peli1 A G 11: 21,098,389 (GRCm39) T375A probably damaging Het
Plch1 G T 3: 63,609,394 (GRCm39) Q938K possibly damaging Het
Plxnb2 A G 15: 89,043,796 (GRCm39) V1352A possibly damaging Het
Pmepa1 G A 2: 173,070,115 (GRCm39) R147W probably damaging Het
Prdm16 T G 4: 154,429,848 (GRCm39) K373Q probably damaging Het
Qki T G 17: 10,457,964 (GRCm39) E135A probably damaging Het
Rad50 T C 11: 53,575,073 (GRCm39) K556E probably benign Het
Scara5 CG C 14: 65,997,111 (GRCm39) probably null Het
Sin3a T A 9: 57,018,084 (GRCm39) D834E possibly damaging Het
Smg8 G A 11: 86,971,086 (GRCm39) S895L probably benign Het
Sorl1 T C 9: 41,890,686 (GRCm39) I1944M probably benign Het
Stam2 G A 2: 52,626,305 (GRCm39) probably benign Het
Tmprss7 A T 16: 45,481,252 (GRCm39) W645R probably damaging Het
Tns1 T C 1: 73,980,176 (GRCm39) M1111V probably benign Het
Ttn A C 2: 76,608,726 (GRCm39) D17763E probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubr4 G A 4: 139,124,839 (GRCm39) probably benign Het
Usp31 T C 7: 121,260,588 (GRCm39) H637R probably damaging Het
Vps50 A C 6: 3,567,739 (GRCm39) E545A possibly damaging Het
Wdfy3 G T 5: 102,020,724 (GRCm39) L2527M probably damaging Het
Wfdc2 T C 2: 164,405,354 (GRCm39) V85A possibly damaging Het
Other mutations in Picalm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Picalm APN 7 89,810,526 (GRCm39) missense probably damaging 1.00
IGL01147:Picalm APN 7 89,826,800 (GRCm39) missense probably benign 0.42
IGL02814:Picalm APN 7 89,840,957 (GRCm39) missense possibly damaging 0.75
IGL02828:Picalm APN 7 89,826,709 (GRCm39) missense probably benign
IGL02904:Picalm APN 7 89,825,619 (GRCm39) splice site probably benign
IGL02986:Picalm APN 7 89,856,793 (GRCm39) missense probably benign 0.00
IGL03001:Picalm APN 7 89,831,454 (GRCm39) missense probably benign 0.00
IGL03247:Picalm APN 7 89,843,499 (GRCm39) missense probably benign 0.27
R0024:Picalm UTSW 7 89,779,912 (GRCm39) critical splice donor site probably null
R0085:Picalm UTSW 7 89,831,525 (GRCm39) missense probably benign
R0414:Picalm UTSW 7 89,838,406 (GRCm39) missense possibly damaging 0.94
R0537:Picalm UTSW 7 89,779,876 (GRCm39) missense probably benign 0.05
R0855:Picalm UTSW 7 89,840,356 (GRCm39) missense possibly damaging 0.55
R1269:Picalm UTSW 7 89,814,757 (GRCm39) nonsense probably null
R1496:Picalm UTSW 7 89,779,859 (GRCm39) missense probably benign 0.36
R1635:Picalm UTSW 7 89,840,459 (GRCm39) missense probably damaging 1.00
R1750:Picalm UTSW 7 89,840,390 (GRCm39) missense possibly damaging 0.81
R1755:Picalm UTSW 7 89,809,757 (GRCm39) missense possibly damaging 0.88
R2513:Picalm UTSW 7 89,846,217 (GRCm39) missense probably damaging 1.00
R3850:Picalm UTSW 7 89,840,912 (GRCm39) missense probably damaging 1.00
R3874:Picalm UTSW 7 89,838,427 (GRCm39) missense probably damaging 1.00
R5095:Picalm UTSW 7 89,819,841 (GRCm39) missense probably damaging 1.00
R5517:Picalm UTSW 7 89,819,806 (GRCm39) missense possibly damaging 0.68
R6012:Picalm UTSW 7 89,844,908 (GRCm39) missense probably benign
R6280:Picalm UTSW 7 89,826,770 (GRCm39) missense probably benign 0.00
R6739:Picalm UTSW 7 89,825,916 (GRCm39) missense probably damaging 1.00
R6951:Picalm UTSW 7 89,840,583 (GRCm39) missense probably damaging 1.00
R7083:Picalm UTSW 7 89,825,976 (GRCm39) missense probably benign 0.01
R7877:Picalm UTSW 7 89,779,876 (GRCm39) missense probably benign 0.05
R8081:Picalm UTSW 7 89,840,451 (GRCm39) nonsense probably null
R9335:Picalm UTSW 7 89,825,491 (GRCm39) missense probably benign
R9524:Picalm UTSW 7 89,810,484 (GRCm39) nonsense probably null
Z1176:Picalm UTSW 7 89,846,175 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTCCGCCATATTGGGAGCTG -3'
(R):5'- CCAAATACGGGCTTTTCTTGGTAG -3'

Sequencing Primer
(F):5'- CCATATTGGGAGCTGGTGGTAC -3'
(R):5'- AAGTGGTATTGACAACGCTCTCC -3'
Posted On 2016-09-06