Incidental Mutation 'R0024:Picalm'
ID 177907
Institutional Source Beutler Lab
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Name phosphatidylinositol binding clathrin assembly protein
Synonyms fit1, fit-1
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.874) question?
Stock # R0024 (G1)
Quality Score 53
Status Validated
Chromosome 7
Chromosomal Location 89779418-89858655 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 89779912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000049537] [ENSMUST00000207225] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000207484] [ENSMUST00000209068] [ENSMUST00000209068] [ENSMUST00000208730] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000208742] [ENSMUST00000208684]
AlphaFold Q7M6Y3
Predicted Effect probably null
Transcript: ENSMUST00000049537
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361

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: ENSMUST00000049537
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361

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 noncoding transcript
Transcript: ENSMUST00000181189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207197
Predicted Effect probably null
Transcript: ENSMUST00000207225
Predicted Effect probably null
Transcript: ENSMUST00000207225
Predicted Effect probably null
Transcript: ENSMUST00000207484
Predicted Effect probably null
Transcript: ENSMUST00000207484
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207596
Predicted Effect probably null
Transcript: ENSMUST00000209068
Predicted Effect probably null
Transcript: ENSMUST00000209068
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207949
Predicted Effect probably null
Transcript: ENSMUST00000208730
Predicted Effect probably null
Transcript: ENSMUST00000208730
Predicted Effect probably null
Transcript: ENSMUST00000208742
Predicted Effect probably null
Transcript: ENSMUST00000208742
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209164
Predicted Effect probably benign
Transcript: ENSMUST00000208684
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209166
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,032,608 (GRCm39) D209V probably damaging Het
Abtb3 A G 10: 85,223,311 (GRCm39) D40G unknown Het
Bbx T A 16: 50,045,281 (GRCm39) M427L probably benign Het
Camk2d A G 3: 126,591,372 (GRCm39) M281V probably benign Het
Chdh G A 14: 29,753,553 (GRCm39) R154H possibly damaging Het
Emid1 A T 11: 5,093,869 (GRCm39) W93R probably damaging Het
Grid2ip T A 5: 143,376,796 (GRCm39) S947T probably damaging Het
Gstt4 T A 10: 75,653,038 (GRCm39) M175L possibly damaging Het
Hectd4 C T 5: 121,446,639 (GRCm39) T242I possibly damaging Het
Hfm1 T C 5: 107,004,790 (GRCm39) K1179E probably benign Het
Kif13b A G 14: 64,987,722 (GRCm39) I750V probably benign Het
Krt34 A T 11: 99,931,863 (GRCm39) C119S probably benign Het
Krt6a A G 15: 101,599,150 (GRCm39) probably benign Het
Myof G T 19: 37,904,188 (GRCm39) T4N probably damaging Het
Or2r3 A G 6: 42,448,194 (GRCm39) M306T probably benign Het
P3h3 T C 6: 124,834,421 (GRCm39) Q77R probably benign Het
Plcb1 A G 2: 135,204,345 (GRCm39) S900G probably benign Het
Prkd2 T C 7: 16,581,568 (GRCm39) L141P probably damaging Het
Prpf31 C A 7: 3,639,658 (GRCm39) probably null Het
Rgs5 T A 1: 169,504,461 (GRCm39) V37D probably damaging Het
Slc24a2 T C 4: 86,946,477 (GRCm39) probably benign Het
Ssh2 A T 11: 77,345,792 (GRCm39) Q1259L possibly damaging Het
Sugct G A 13: 17,032,454 (GRCm39) H433Y probably benign Het
Sycp2l A G 13: 41,295,264 (GRCm39) I310M probably damaging Het
Utrn A G 10: 12,281,755 (GRCm39) V3301A 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
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
Predicted Primers PCR Primer
(F):5'- AAGCTCCGAGGAGGAGCCTG -3'
(R):5'- GGGCGCAATGGATTGTCACATTTT -3'

Sequencing Primer
(F):5'- CCGACTTGGTGTGGGAGC -3'
(R):5'- CGCAATGGATTGTCACATTTTTTTTC -3'
Posted On 2014-04-30