Incidental Mutation 'R8870:Iapp'
ID 676201
Institutional Source Beutler Lab
Gene Symbol Iapp
Ensembl Gene ENSMUSG00000041681
Gene Name islet amyloid polypeptide
Synonyms amylin
MMRRC Submission 068684-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8870 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142244151-142249546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 142244602 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 10 (V10F)
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: V10F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000043956
Gene: ENSMUSG00000041681
AA Change: V10F

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (76/76)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,471,840 (GRCm39) N1082Y possibly damaging Het
4930444P10Rik G A 1: 16,136,451 (GRCm39) Q122* probably null Het
Afg2a A G 3: 37,502,661 (GRCm39) N607D probably benign Het
Ak8 C T 2: 28,625,602 (GRCm39) T215M probably benign Het
Ano3 T A 2: 110,614,074 (GRCm39) I210F probably benign Het
Atg9b A G 5: 24,592,032 (GRCm39) F656L probably damaging Het
Bscl2 T C 19: 8,824,793 (GRCm39) M292T probably benign Het
Cachd1 G T 4: 100,754,978 (GRCm39) C143F probably damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Ccnb1ip1 C T 14: 51,029,450 (GRCm39) G204E probably benign Het
Ccr1 T A 9: 123,764,022 (GRCm39) L169F probably benign Het
Cdc42bpg A G 19: 6,364,550 (GRCm39) N593D possibly damaging Het
Cdh20 T C 1: 104,873,048 (GRCm39) S265P probably damaging Het
Cenpk A G 13: 104,367,365 (GRCm39) E67G probably damaging Het
Cep76 A T 18: 67,773,190 (GRCm39) I36K probably benign Het
Clock A T 5: 76,383,632 (GRCm39) I507N probably benign Het
Cpne1 T C 2: 155,920,873 (GRCm39) T110A probably benign Het
Crybg2 A T 4: 133,818,525 (GRCm39) E1427V possibly damaging Het
Ctu1 A C 7: 43,324,746 (GRCm39) K62Q probably damaging Het
Dnai4 C T 4: 102,944,529 (GRCm39) probably null Het
Drd5 C A 5: 38,477,747 (GRCm39) Q247K possibly damaging Het
Ect2l A T 10: 18,014,608 (GRCm39) L808* probably null Het
Efcab3 A G 11: 104,791,500 (GRCm39) T2905A probably benign Het
Ficd A T 5: 113,876,248 (GRCm39) D141V probably damaging Het
Fnbp1 A G 2: 30,938,222 (GRCm39) Y148H Het
Gm49368 A G 7: 127,700,685 (GRCm39) K485R probably benign Het
Gpr75 C A 11: 30,841,860 (GRCm39) A255D probably benign Het
Hcrtr2 G T 9: 76,153,666 (GRCm39) A242D probably damaging Het
Ikzf2 A G 1: 69,722,417 (GRCm39) S31P possibly damaging Het
Il18rap G A 1: 40,564,280 (GRCm39) probably benign Het
Irak2 A T 6: 113,663,902 (GRCm39) N423Y probably damaging Het
Itpkb A G 1: 180,159,744 (GRCm39) probably benign Het
Itpr1 A G 6: 108,365,172 (GRCm39) I874M probably damaging Het
Kif26b G T 1: 178,692,594 (GRCm39) V512F probably damaging Het
Lhx6 G A 2: 35,995,232 (GRCm39) probably benign Het
Lrfn1 A G 7: 28,158,918 (GRCm39) E279G possibly damaging Het
Masp1 A C 16: 23,314,882 (GRCm39) D126E probably damaging Het
Mef2a T C 7: 66,890,176 (GRCm39) I299V probably benign Het
Midn A G 10: 79,985,939 (GRCm39) S10G probably damaging Het
Mrps12 A T 7: 28,439,361 (GRCm39) L118Q probably damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Mzf1 A G 7: 12,786,836 (GRCm39) V78A probably benign Het
Ncoa6 A G 2: 155,263,078 (GRCm39) V452A probably damaging Het
Neb A G 2: 52,051,481 (GRCm39) Y6600H probably damaging Het
Nlgn2 A G 11: 69,716,297 (GRCm39) L748P possibly damaging Het
Nnmt A T 9: 48,514,801 (GRCm39) L72H probably damaging Het
Nrxn3 A G 12: 90,171,560 (GRCm39) T964A probably benign Het
Or12k7 A G 2: 36,958,982 (GRCm39) I222V probably benign Het
Or1e35 T G 11: 73,797,725 (GRCm39) M198L probably benign Het
Or2y16 T A 11: 49,335,350 (GRCm39) V224E probably damaging Het
Or4k35 T A 2: 111,100,464 (GRCm39) I83F possibly damaging Het
Or5h27 G A 16: 59,006,130 (GRCm39) P239S unknown Het
Or8c11 A G 9: 38,289,720 (GRCm39) N175S probably benign Het
Or8g33 A G 9: 39,337,548 (GRCm39) V273A probably damaging Het
Osbpl11 A G 16: 33,034,850 (GRCm39) N280D probably benign Het
Peg10 A T 6: 4,754,825 (GRCm39) Y202F probably damaging Het
Pick1 A G 15: 79,140,107 (GRCm39) R469G unknown Het
Rev3l A G 10: 39,738,786 (GRCm39) I2847V probably damaging Het
Rmc1 A G 18: 12,321,618 (GRCm39) E473G probably benign Het
Rnaseh2b T A 14: 62,569,617 (GRCm39) L18Q probably damaging Het
Rpl19 A G 11: 97,920,615 (GRCm39) Y122C probably benign Het
Selp A G 1: 163,964,787 (GRCm39) Y483C probably damaging Het
Setd2 T A 9: 110,423,321 (GRCm39) F347L Het
Snx14 A G 9: 88,295,541 (GRCm39) I208T probably benign Het
Spag16 T A 1: 70,036,017 (GRCm39) F348L probably benign Het
Spata22 A T 11: 73,231,091 (GRCm39) N115I probably damaging Het
Spata31 T C 13: 65,068,818 (GRCm39) V322A probably benign Het
Stc1 A T 14: 69,275,825 (GRCm39) H206L probably benign Het
Tas2r129 A G 6: 132,928,522 (GRCm39) D153G probably damaging Het
Tmem196 T A 12: 119,982,268 (GRCm39) N167K possibly damaging Het
Tmpo T C 10: 90,987,581 (GRCm39) T356A probably damaging Het
Tnks A G 8: 35,314,433 (GRCm39) probably null Het
Ttbk1 A C 17: 46,781,661 (GRCm39) L364R probably damaging Het
Vmn1r176 A T 7: 23,534,480 (GRCm39) N224K probably damaging Het
Vmn1r36 T A 6: 66,693,720 (GRCm39) M52L probably benign Het
Vmn2r93 A T 17: 18,525,320 (GRCm39) H326L possibly damaging Het
Wrn A T 8: 33,819,220 (GRCm39) M244K probably benign Het
Zcchc24 C T 14: 25,757,578 (GRCm39) A102T probably benign Het
Zfp1010 T A 2: 176,957,312 (GRCm39) Q62L 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
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
R9591:Iapp UTSW 6 142,249,063 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTACTATTTCAAAGGTGTTGAGC -3'
(R):5'- CCTTGTCCTTAAAGAACACAGGG -3'

Sequencing Primer
(F):5'- TTTCAAAGGTGTTGAGCATCAG -3'
(R):5'- GTCCTTAAAGAACACAGGGTTATG -3'
Posted On 2021-07-15