Incidental Mutation 'IGL02828:Picalm'
ID361282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Picalm
Ensembl Gene ENSMUSG00000039361
Gene Namephosphatidylinositol binding clathrin assembly protein
Synonymsfit-1, fit1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.902) question?
Stock #IGL02828
Quality Score
Status
Chromosome7
Chromosomal Location90130213-90213465 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 90177501 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 386 (T386A)
Ref Sequence ENSEMBL: ENSMUSP00000146386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049537] [ENSMUST00000207084] [ENSMUST00000207225] [ENSMUST00000207484] [ENSMUST00000208730] [ENSMUST00000208742] [ENSMUST00000209068]
Predicted Effect probably benign
Transcript: ENSMUST00000049537
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000051092
Gene: ENSMUSG00000039361
AA Change: T386A

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: T270A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207225
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000207484
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000208089
AA Change: T161A
Predicted Effect probably benign
Transcript: ENSMUST00000208730
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000208742
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209068
AA Change: T386A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik C A 18: 12,189,221 A577D possibly damaging Het
Abca8b G A 11: 109,980,894 T86I probably damaging Het
Adam28 C T 14: 68,646,870 S93N possibly damaging Het
Adamts6 T C 13: 104,297,470 Y136H probably damaging Het
Ahdc1 A T 4: 133,062,921 K491I possibly damaging Het
AI314180 A G 4: 58,875,512 S151P possibly damaging Het
Alb C A 5: 90,467,388 A253E probably benign Het
Asb18 A G 1: 89,996,210 probably null Het
Asxl3 T A 18: 22,524,661 N1909K possibly damaging Het
Atp12a T A 14: 56,376,142 V457D possibly damaging Het
Atxn7 G T 14: 14,090,056 G334W probably damaging Het
Catsperb T A 12: 101,480,782 I223K probably benign Het
Clec2h T A 6: 128,675,922 H217Q probably benign Het
Col6a3 T C 1: 90,796,559 E1416G probably damaging Het
Dcaf1 T A 9: 106,844,302 probably benign Het
Ddr2 C T 1: 169,988,513 A542T probably benign Het
Ebf3 T C 7: 137,307,518 N174S probably damaging Het
Ephb2 A G 4: 136,771,150 I206T probably benign Het
Fam214a G T 9: 75,006,432 A123S probably damaging Het
Fbxo39 T A 11: 72,317,215 I131N possibly damaging Het
Fdxacb1 G A 9: 50,771,564 V276I possibly damaging Het
Gm13023 A T 4: 143,795,125 D437V possibly damaging Het
Gpr146 A T 5: 139,392,821 Y126F probably damaging Het
Hivep3 A T 4: 120,097,732 K1082* probably null Het
Ifnar1 T A 16: 91,505,416 probably null Het
Kap A G 6: 133,852,094 V25A probably benign Het
Klhl2 C A 8: 64,779,757 R162L probably damaging Het
Kmt2a A G 9: 44,821,947 probably benign Het
Lrp4 A G 2: 91,475,294 N303S probably benign Het
Mtpap A T 18: 4,386,207 N276Y probably damaging Het
Nlrp5 G A 7: 23,421,460 G684S possibly damaging Het
Olfr1513 T C 14: 52,349,342 R235G probably benign Het
Olfr294 A T 7: 86,616,069 V192E possibly damaging Het
Pak2 A T 16: 32,021,856 L469H probably damaging Het
Pcdhb15 T A 18: 37,473,850 L45Q probably damaging Het
Pi4ka A T 16: 17,280,711 probably benign Het
Pkd1l2 T C 8: 117,029,559 T1645A probably benign Het
Plekhm2 A T 4: 141,629,630 V754E probably damaging Het
Rbl1 T A 2: 157,199,464 E81V probably damaging Het
Rbp4 C A 19: 38,118,269 probably null Het
Rdh12 T C 12: 79,218,685 V211A probably damaging Het
Ret G A 6: 118,176,207 A500V probably benign Het
Rin1 T C 19: 5,053,090 F469S possibly damaging Het
Rsc1a1 G T 4: 141,684,168 P478T probably damaging Het
Setd2 A T 9: 110,561,214 Y1579F probably benign Het
Sh3bp5 A T 14: 31,434,149 probably benign Het
Slc22a13 G T 9: 119,195,707 L235I probably benign Het
Slc6a11 A T 6: 114,134,987 T172S possibly damaging Het
Slitrk1 G T 14: 108,911,616 S554R possibly damaging Het
Tg G A 15: 66,682,394 G553S probably damaging Het
Tmem26 G A 10: 68,775,385 probably null Het
Trpm2 A T 10: 77,918,986 L1222Q probably benign Het
Vdac2 T C 14: 21,843,889 V249A probably benign Het
Vmn1r170 T C 7: 23,606,518 V115A probably damaging Het
Vmn2r105 A G 17: 20,209,083 V577A possibly damaging Het
Xpo1 A G 11: 23,282,593 E371G probably damaging Het
Zfp106 A C 2: 120,531,697 H980Q possibly damaging Het
Other mutations in Picalm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Picalm APN 7 90161318 missense probably damaging 1.00
IGL01147:Picalm APN 7 90177592 missense probably benign 0.42
IGL02814:Picalm APN 7 90191749 missense possibly damaging 0.75
IGL02904:Picalm APN 7 90176411 splice site probably benign
IGL02986:Picalm APN 7 90207585 missense probably benign 0.00
IGL03001:Picalm APN 7 90182246 missense probably benign 0.00
IGL03247:Picalm APN 7 90194291 missense probably benign 0.27
R0024:Picalm UTSW 7 90130704 critical splice donor site probably null
R0085:Picalm UTSW 7 90182317 missense probably benign
R0414:Picalm UTSW 7 90189198 missense possibly damaging 0.94
R0537:Picalm UTSW 7 90130668 missense probably benign 0.05
R0855:Picalm UTSW 7 90191148 missense possibly damaging 0.55
R1269:Picalm UTSW 7 90165549 nonsense probably null
R1496:Picalm UTSW 7 90130651 missense probably benign 0.36
R1635:Picalm UTSW 7 90191251 missense probably damaging 1.00
R1750:Picalm UTSW 7 90191182 missense possibly damaging 0.81
R1755:Picalm UTSW 7 90160549 missense possibly damaging 0.88
R2513:Picalm UTSW 7 90197009 missense probably damaging 1.00
R3850:Picalm UTSW 7 90191704 missense probably damaging 1.00
R3874:Picalm UTSW 7 90189219 missense probably damaging 1.00
R5095:Picalm UTSW 7 90170633 missense probably damaging 1.00
R5368:Picalm UTSW 7 90207595 makesense probably null
R5517:Picalm UTSW 7 90170598 missense possibly damaging 0.68
R6012:Picalm UTSW 7 90195700 missense probably benign
R6280:Picalm UTSW 7 90177562 missense probably benign 0.00
R6739:Picalm UTSW 7 90176708 missense probably damaging 1.00
R6951:Picalm UTSW 7 90191375 missense probably damaging 1.00
R7083:Picalm UTSW 7 90176768 missense probably benign 0.01
R7877:Picalm UTSW 7 90130668 missense probably benign 0.05
R8081:Picalm UTSW 7 90191243 nonsense probably null
Z1176:Picalm UTSW 7 90196967 missense probably damaging 0.98
Posted On2015-12-18