Incidental Mutation 'IGL02096:Iapp'
ID 281131
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 # IGL02096
Quality Score
Status
Chromosome 6
Chromosomal Location 142244151-142249546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142249199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 84 (N84I)
Ref Sequence ENSEMBL: ENSMUSP00000043956 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041993] [ENSMUST00000081380] [ENSMUST00000128446]
AlphaFold P12968
Predicted Effect probably benign
Transcript: ENSMUST00000041993
AA Change: N84I

PolyPhen 2 Score 0.429 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000043956
Gene: ENSMUSG00000041681
AA Change: N84I

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,993,359 (GRCm39) L1584P probably damaging Het
Abca9 G T 11: 110,056,806 (GRCm39) H5N probably benign Het
Acox1 A T 11: 116,069,024 (GRCm39) I371N probably damaging Het
Aopep C A 13: 63,208,903 (GRCm39) A340E probably benign Het
Bmp5 A G 9: 75,805,833 (GRCm39) N445S probably damaging Het
Cacna1b G T 2: 24,568,927 (GRCm39) A999E probably benign Het
Cdc27 A T 11: 104,419,394 (GRCm39) probably benign Het
Dmxl2 T C 9: 54,308,349 (GRCm39) E2134G possibly damaging Het
Dnttip2 A G 3: 122,078,062 (GRCm39) N698S possibly damaging Het
Duox1 A T 2: 122,174,655 (GRCm39) K1271M probably damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Edem3 A G 1: 151,680,470 (GRCm39) T532A probably benign Het
Epx A T 11: 87,760,294 (GRCm39) L440Q probably damaging Het
F11 A G 8: 45,699,791 (GRCm39) F432L probably benign Het
Fam185a C A 5: 21,630,341 (GRCm39) P59Q probably damaging Het
Fsip2 A G 2: 82,822,204 (GRCm39) D5979G possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Gtf3c1 T A 7: 125,258,284 (GRCm39) Q1262L probably damaging Het
Hmmr A T 11: 40,598,256 (GRCm39) V652E probably benign Het
Katnip G A 7: 125,413,993 (GRCm39) C379Y probably benign Het
Mmp17 C T 5: 129,675,752 (GRCm39) Q304* probably null Het
Mpl T C 4: 118,314,333 (GRCm39) T55A possibly damaging Het
Mst1r G A 9: 107,794,478 (GRCm39) R1219H probably damaging Het
Muc6 T A 7: 141,226,117 (GRCm39) probably benign Het
Nalcn C T 14: 123,831,915 (GRCm39) V120I probably benign Het
Nt5dc1 A T 10: 34,275,806 (GRCm39) C134* probably null Het
Obscn A C 11: 58,971,530 (GRCm39) N2228K probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Osbpl10 T C 9: 115,046,062 (GRCm39) M566T possibly damaging Het
Pabpc1l G A 2: 163,886,267 (GRCm39) V466I probably benign Het
Pdcd11 T G 19: 47,094,860 (GRCm39) V548G probably benign Het
Prss27 G T 17: 24,263,951 (GRCm39) K212N possibly damaging Het
Ranbp2 T A 10: 58,297,789 (GRCm39) S399T probably damaging Het
Rgs19 A G 2: 181,331,076 (GRCm39) S159P probably damaging Het
Sh2b1 A G 7: 126,068,465 (GRCm39) S449P probably damaging Het
Slc6a18 T A 13: 73,820,870 (GRCm39) Y238F probably benign Het
Stx11 T C 10: 12,817,224 (GRCm39) I167V probably benign Het
Sucnr1 A G 3: 59,994,371 (GRCm39) M300V possibly damaging Het
Synj2 A G 17: 6,040,628 (GRCm39) T235A probably damaging Het
Ubxn2b T A 4: 6,214,749 (GRCm39) I261N probably damaging Het
Vmn2r43 G A 7: 8,260,512 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,484,443 (GRCm39) M454T probably damaging Het
Vsig2 T A 9: 37,451,251 (GRCm39) S51T probably damaging Het
Wdr41 T C 13: 95,153,964 (GRCm39) probably benign Het
Wdr6 A C 9: 108,453,752 (GRCm39) L44V probably damaging Het
Zfp1001 T C 2: 150,165,634 (GRCm39) Y5H probably damaging Het
Zfp592 T C 7: 80,674,796 (GRCm39) Y587H probably damaging Het
Zfp735 A T 11: 73,602,254 (GRCm39) K399N probably benign Het
Other mutations in Iapp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01145:Iapp APN 6 142,249,090 (GRCm39) missense probably damaging 1.00
IGL01484:Iapp APN 6 142,249,165 (GRCm39) missense possibly damaging 0.92
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 2015-04-16