Incidental Mutation 'IGL01145:Iapp'
ID 51388
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iapp
Ensembl Gene ENSMUSG00000041681
Gene Name islet amyloid polypeptide
Synonyms amylin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01145
Quality Score
Status
Chromosome 6
Chromosomal Location 142244151-142249546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 142249090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 48 (R48S)
Ref Sequence ENSEMBL: ENSMUSP00000043956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041993] [ENSMUST00000081380] [ENSMUST00000128446]
AlphaFold P12968
Predicted Effect probably damaging
Transcript: ENSMUST00000041993
AA Change: R48S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043956
Gene: ENSMUSG00000041681
AA Change: R48S

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
CALCITONIN 36 78 9.02e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081380
SMART Domains Protein: ENSMUSP00000080116
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:MFS_1 22 420 4.3e-30 PFAM
KAZAL 438 486 2.18e0 SMART
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128446
SMART Domains Protein: ENSMUSP00000124987
Gene: ENSMUSG00000063975

DomainStartEndE-ValueType
Pfam:OATP 1 157 6.1e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141583
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 member of the calcitonin family of peptide hormones. This hormone is released from pancreatic beta cells following food intake to regulate blood glucose levels and act as a satiation signal. Human patients with type 1 and advanced type 2 diabetes exhibit reduced levels of the encoded hormone in blood and pancreas. This protein also exhibits a bactericidal, antimicrobial activity. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous inactivation of this locus increases glucose tolerance in a gender-dependent manner and results in decreased bone density due to increased bone resorption. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,749,030 (GRCm39) D1267A probably damaging Het
Ankrd44 A G 1: 54,801,418 (GRCm39) probably null Het
Arap3 T C 18: 38,122,232 (GRCm39) M619V probably benign Het
C8b A T 4: 104,637,777 (GRCm39) Y83F probably benign Het
Capn15 A G 17: 26,182,024 (GRCm39) V595A probably damaging Het
Cbx1 A T 11: 96,692,392 (GRCm39) D93V probably benign Het
Cyp2c66 G T 19: 39,159,405 (GRCm39) E285D probably benign Het
Dkk4 T A 8: 23,115,402 (GRCm39) V84D probably damaging Het
Dnah17 T A 11: 117,937,999 (GRCm39) I3343F possibly damaging Het
Dus3l T C 17: 57,074,627 (GRCm39) probably benign Het
Ecpas A C 4: 58,811,501 (GRCm39) D1467E probably null Het
Eif6 A G 2: 155,668,355 (GRCm39) probably benign Het
Eya3 A G 4: 132,437,306 (GRCm39) I389V probably damaging Het
Gm5916 A T 9: 36,031,998 (GRCm39) D95E unknown Het
Gucy2d T A 7: 98,099,170 (GRCm39) S329T probably benign Het
Hook3 C T 8: 26,549,372 (GRCm39) M157I probably benign Het
Ints11 A G 4: 155,969,583 (GRCm39) Y153C probably damaging Het
Layn G A 9: 50,985,346 (GRCm39) T62I probably benign Het
Llgl2 A G 11: 115,744,631 (GRCm39) H876R probably benign Het
Lrp4 T C 2: 91,317,396 (GRCm39) I840T probably damaging Het
Myo9a T A 9: 59,762,658 (GRCm39) F796L probably benign Het
Naip1 A G 13: 100,545,629 (GRCm39) S1300P probably benign Het
Nfat5 T A 8: 108,093,847 (GRCm39) I602N probably damaging Het
Omt2a T C 9: 78,220,238 (GRCm39) M64V probably benign Het
Pcnx1 T C 12: 82,038,809 (GRCm39) S2025P probably damaging Het
Pemt A G 11: 59,874,293 (GRCm39) L62P probably damaging Het
Polrmt A G 10: 79,576,971 (GRCm39) V399A probably benign Het
Rasgrp4 T C 7: 28,850,898 (GRCm39) S77P possibly damaging Het
Rrm2b G A 15: 37,944,804 (GRCm39) P111L probably damaging Het
Slc10a4-ps A T 5: 72,743,547 (GRCm39) probably null Het
Thap12 A G 7: 98,362,110 (GRCm39) *121W probably null Het
Tnik A G 3: 28,658,316 (GRCm39) probably benign Het
Trio G A 15: 27,818,253 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,310,407 (GRCm39) E930G probably damaging Het
Zfp335 G T 2: 164,749,422 (GRCm39) T299K probably benign Het
Other mutations in Iapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Iapp APN 6 142,249,165 (GRCm39) missense possibly damaging 0.92
IGL02096:Iapp APN 6 142,249,199 (GRCm39) missense probably benign 0.43
R2218:Iapp UTSW 6 142,249,096 (GRCm39) missense probably benign 0.03
R3803:Iapp UTSW 6 142,249,151 (GRCm39) missense probably benign 0.03
R7762:Iapp UTSW 6 142,249,122 (GRCm39) missense possibly damaging 0.84
R8427:Iapp UTSW 6 142,244,612 (GRCm39) missense probably damaging 0.96
R8870:Iapp UTSW 6 142,244,602 (GRCm39) missense probably benign 0.00
R9591:Iapp UTSW 6 142,249,063 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21