Incidental Mutation 'IGL03001:Picalm'
ID 407311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Name phosphatidylinositol binding clathrin assembly protein
Synonyms fit1, fit-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.888) question?
Stock # IGL03001
Quality Score
Status
Chromosome 7
Chromosomal Location 89779418-89858655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89831454 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 429 (V429A)
Ref Sequence ENSEMBL: ENSMUSP00000147016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]
AlphaFold Q7M6Y3
Predicted Effect probably benign
Transcript: ENSMUST00000049537
AA Change: V429A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: V429A

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 benign
Transcript: ENSMUST00000207084
AA Change: V313A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207225
Predicted Effect probably benign
Transcript: ENSMUST00000207484
AA Change: V429A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207822
Predicted Effect probably benign
Transcript: ENSMUST00000208089
Predicted Effect probably benign
Transcript: ENSMUST00000208730
Predicted Effect probably benign
Transcript: ENSMUST00000208742
AA Change: V429A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000209068
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,761,042 (GRCm39) D1918A probably damaging Het
Ahcy C A 2: 154,906,748 (GRCm39) D182Y probably damaging Het
Aldob T G 4: 49,542,844 (GRCm39) D110A probably damaging Het
Alkbh8 A T 9: 3,344,602 (GRCm39) M53L probably benign Het
Aqr T C 2: 113,977,400 (GRCm39) D363G probably benign Het
Asxl3 A G 18: 22,650,455 (GRCm39) R815G probably damaging Het
Atf4 T A 15: 80,140,858 (GRCm39) W83R probably damaging Het
Baz1a A T 12: 54,969,896 (GRCm39) M587K possibly damaging Het
Btbd8 T C 5: 107,645,708 (GRCm39) I9T probably damaging Het
Cactin T A 10: 81,161,568 (GRCm39) I700N probably damaging Het
Catsperg2 T C 7: 29,424,504 (GRCm39) S95G probably benign Het
Cd1d1 C T 3: 86,905,468 (GRCm39) S175N probably benign Het
Chd4 C A 6: 125,078,529 (GRCm39) A217E possibly damaging Het
Cnbd2 T C 2: 156,175,554 (GRCm39) probably null Het
Cntnap5c G A 17: 58,362,634 (GRCm39) C329Y probably damaging Het
Col12a1 C T 9: 79,540,955 (GRCm39) G2391R probably damaging Het
Col5a3 T A 9: 20,719,040 (GRCm39) D238V unknown Het
Cuedc1 T C 11: 88,073,315 (GRCm39) V160A probably benign Het
Depdc5 T C 5: 33,102,434 (GRCm39) V342A possibly damaging Het
Dnah6 T C 6: 73,126,123 (GRCm39) D1338G probably benign Het
Dpyd T C 3: 118,710,891 (GRCm39) V433A probably benign Het
Epb41l5 T C 1: 119,545,374 (GRCm39) H179R probably damaging Het
Fbf1 T C 11: 116,056,712 (GRCm39) probably benign Het
Flnb T C 14: 7,934,680 (GRCm38) S2251P probably damaging Het
Fsip2 A T 2: 82,820,968 (GRCm39) probably benign Het
Grin2b C T 6: 135,716,113 (GRCm39) V735M probably damaging Het
Itpr3 T G 17: 27,308,586 (GRCm39) probably benign Het
Lingo4 C T 3: 94,309,703 (GRCm39) R214C probably damaging Het
Lrp1b C T 2: 40,817,901 (GRCm39) R2329H probably damaging Het
Lrrc47 T C 4: 154,100,450 (GRCm39) L342P probably damaging Het
Mmp15 T C 8: 96,094,845 (GRCm39) S240P probably damaging Het
Ndufaf4 T A 4: 24,901,747 (GRCm39) N95K probably benign Het
Nms C T 1: 38,980,993 (GRCm39) P60S probably benign Het
Npas3 A T 12: 53,547,975 (GRCm39) Y77F probably damaging Het
Or2ak7 T G 11: 58,574,702 (GRCm39) M1R probably null Het
Or51f5 G T 7: 102,424,460 (GRCm39) C243F probably damaging Het
Or5d43 T A 2: 88,105,189 (GRCm39) D68V probably damaging Het
Or8d2b A G 9: 38,789,374 (GRCm39) M301V probably benign Het
Or9m2 T A 2: 87,820,493 (GRCm39) Y13N probably benign Het
Or9s27 T A 1: 92,516,273 (GRCm39) S74T probably damaging Het
Pkhd1l1 T A 15: 44,421,400 (GRCm39) I3056N probably damaging Het
Pomt1 G T 2: 32,134,338 (GRCm39) M286I probably benign Het
Popdc2 A T 16: 38,189,881 (GRCm39) Y176F probably benign Het
Psg21 A T 7: 18,386,410 (GRCm39) M192K probably benign Het
Psma1 C A 7: 113,865,674 (GRCm39) A219S probably benign Het
Rad21l T G 2: 151,510,389 (GRCm39) H22P probably damaging Het
Rnf213 A G 11: 119,370,767 (GRCm39) T4791A probably damaging Het
Sdk2 A G 11: 113,712,452 (GRCm39) V1609A probably benign Het
Sema3e T A 5: 14,291,057 (GRCm39) S606T probably benign Het
Slc16a4 A T 3: 107,218,858 (GRCm39) R486S possibly damaging Het
Slc17a3 T C 13: 24,040,767 (GRCm39) L331P probably damaging Het
Slc38a11 A T 2: 65,184,159 (GRCm39) V164D probably damaging Het
Slc38a6 A G 12: 73,383,827 (GRCm39) I173V probably benign Het
Synpo2 T C 3: 122,873,604 (GRCm39) T1121A probably benign Het
Tfcp2 T C 15: 100,426,302 (GRCm39) D83G possibly damaging Het
Thnsl1 A G 2: 21,216,455 (GRCm39) T70A probably damaging Het
Tnfrsf21 A G 17: 43,398,786 (GRCm39) I631V probably damaging Het
Tor2a C A 2: 32,647,329 (GRCm39) H6Q possibly damaging Het
Ttn T C 2: 76,565,267 (GRCm39) N19993S probably benign Het
Vps53 T C 11: 76,029,150 (GRCm39) E119G probably damaging Het
Zkscan6 T C 11: 65,705,495 (GRCm39) W69R probably damaging Het
Zng1 T C 19: 24,900,002 (GRCm39) K301E probably benign Het
Zswim8 T C 14: 20,764,459 (GRCm39) S610P probably 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
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
R5368:Picalm UTSW 7 89,856,803 (GRCm39) makesense probably null
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
Posted On 2016-08-02