Incidental Mutation 'R6951:Picalm'
ID 541265
Institutional Source Beutler Lab
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Name phosphatidylinositol binding clathrin assembly protein
Synonyms fit1, fit-1
MMRRC Submission 045063-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R6951 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 89779418-89858655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89840583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 434 (N434K)
Ref Sequence ENSEMBL: ENSMUSP00000146509 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]
AlphaFold Q7M6Y3
Predicted Effect possibly damaging
Transcript: ENSMUST00000049537
AA Change: N550K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: N550K

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 damaging
Transcript: ENSMUST00000207084
AA Change: N434K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207225
AA Change: N500K

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000207484
AA Change: N555K

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect
Predicted Effect possibly damaging
Transcript: ENSMUST00000208730
AA Change: N500K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000208742
AA Change: N555K

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000209068
AA Change: N505K

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1248 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.0%
Validation Efficiency 100% (42/42)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd34a A G 3: 96,505,738 (GRCm39) N314S possibly damaging Het
Arhgef3 A T 14: 26,865,975 (GRCm39) probably benign Het
Bmp1 T C 14: 70,746,298 (GRCm39) R114G probably benign Het
Cenpf A G 1: 189,385,989 (GRCm39) L2097P probably damaging Het
Cgas A G 9: 78,349,840 (GRCm39) V174A probably damaging Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnase2a A T 8: 85,636,254 (GRCm39) N130I possibly damaging Het
Dpp10 C T 1: 123,269,379 (GRCm39) V677M possibly damaging Het
Dsp G A 13: 38,351,622 (GRCm39) C147Y possibly damaging Het
Ecpas A G 4: 58,853,114 (GRCm39) probably null Het
Esyt2 A G 12: 116,287,750 (GRCm39) T223A probably benign Het
Fndc5 G A 4: 129,032,573 (GRCm39) V59I possibly damaging Het
Fsip2 A G 2: 82,812,293 (GRCm39) T2871A possibly damaging Het
H2-Eb1 A T 17: 34,528,831 (GRCm39) R121* probably null Het
Hydin A G 8: 111,124,757 (GRCm39) I589V probably benign Het
Kitl A G 10: 99,887,714 (GRCm39) I48V probably damaging Het
Large1 A G 8: 73,843,047 (GRCm39) S159P probably damaging Het
Lrba T C 3: 86,653,180 (GRCm39) L2570P probably benign Het
Mag G A 7: 30,610,858 (GRCm39) T128I possibly damaging Het
Mkrn3 G T 7: 62,068,881 (GRCm39) D303E possibly damaging Het
Myo9a A G 9: 59,802,051 (GRCm39) D1951G probably damaging Het
Nup85 C T 11: 115,473,781 (GRCm39) T565I possibly damaging Het
Or5l13 T C 2: 87,780,323 (GRCm39) I85V possibly damaging Het
Or8b1d A G 9: 38,558,170 (GRCm39) S217P probably damaging Het
Or8b43 A G 9: 38,360,234 (GRCm39) D22G probably benign Het
Or8k31-ps1 T C 2: 86,355,993 (GRCm39) H176R probably damaging Het
Pdzrn3 A T 6: 101,131,153 (GRCm39) probably null Het
Platr25 A C 13: 62,853,562 (GRCm39) D77E probably benign Het
Prr22 A T 17: 57,079,028 (GRCm39) R394* probably null Het
Psg23 A T 7: 18,348,636 (GRCm39) L57Q probably damaging Het
Rap1gap2 G A 11: 74,375,774 (GRCm39) S44L possibly damaging Het
Rffl A G 11: 82,736,576 (GRCm39) probably null Het
Stox2 G A 8: 47,656,167 (GRCm39) T103I probably damaging Het
Swt1 T C 1: 151,273,019 (GRCm39) N543S possibly damaging Het
Tep1 C T 14: 51,071,370 (GRCm39) probably null Het
Tln2 A G 9: 67,165,767 (GRCm39) Y1023H probably damaging Het
Tssk5 C A 15: 76,257,096 (GRCm39) R262L possibly damaging Het
Ttn C T 2: 76,710,986 (GRCm39) probably benign Het
Ubtfl1 A T 9: 18,320,873 (GRCm39) I134F probably benign Het
Unc80 T C 1: 66,687,670 (GRCm39) F2351S possibly damaging Het
Vps13a A T 19: 16,701,104 (GRCm39) D688E probably benign 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
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
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'- AACCAGAGTCTTCCTGTTGC -3'
(R):5'- CCAAGGTGACATCTCTATATGTACTTC -3'

Sequencing Primer
(F):5'- AGAGTCTTCCTGTTGCCAAAC -3'
(R):5'- TCTGAAGTGAAAGTCAGAATAGGTTC -3'
Posted On 2018-11-28