Incidental Mutation 'IGL01902:Ins2'
ID179568
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ins2
Ensembl Gene ENSMUSG00000000215
Gene Nameinsulin II
SynonymsIns-2, InsII, Mody4, Mody
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.422) question?
Stock #IGL01902
Quality Score
Status
Chromosome7
Chromosomal Location142678656-142743381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 142679442 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 31 (C31Y)
Ref Sequence ENSEMBL: ENSMUSP00000147425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000220] [ENSMUST00000105930] [ENSMUST00000105931] [ENSMUST00000105932] [ENSMUST00000105933] [ENSMUST00000105934] [ENSMUST00000125933] [ENSMUST00000162317] [ENSMUST00000210288]
Predicted Effect probably damaging
Transcript: ENSMUST00000000220
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000220
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 109 2.21e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105930
AA Change: C31Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101550
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 79 2.13e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105931
AA Change: C31Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000101551
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 69 2.81e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105932
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101552
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 109 2.21e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105933
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101553
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 109 2.21e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105934
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101554
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 109 2.21e-35 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000125933
AA Change: C31Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115147
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 70 6.3e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000162317
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124643
Gene: ENSMUSG00000000215
AA Change: C31Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 97 1.32e-33 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210288
AA Change: C31Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. The encoded precursor protein undergoes proteolytic cleavage to produce a disulfide-linked heterodimeric functional protein that is stored in secretory granules. An increase in blood glucose levels, among others, induces the release of insulin from the secretory granules. Mice deficient in the functional hormone encoded by this gene develop diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for spontaneous or knock-out alleles exhibit increased mortality, abnormal growth, abnormal glucose homeostasis, impaired pancreatic function, and phenotypes associated with type 2 diabetes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A G 7: 43,497,843 S228P probably damaging Het
Adamtsl2 A T 2: 27,087,252 I242F probably damaging Het
Bicdl1 A G 5: 115,651,874 L284P probably damaging Het
Bnc2 A G 4: 84,390,944 I138T probably damaging Het
Cep350 A G 1: 155,861,985 L2704S probably damaging Het
Col7a1 C A 9: 108,977,827 P2442T unknown Het
Cpne6 A T 14: 55,512,750 T113S possibly damaging Het
Crnkl1 T C 2: 145,924,712 probably null Het
Cyp2c67 T A 19: 39,649,026 D2V probably damaging Het
Frzb T A 2: 80,413,367 S323C probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Lipf A T 19: 33,970,779 N234Y probably benign Het
Mtf1 T C 4: 124,804,927 F73L probably damaging Het
Nrxn1 A G 17: 91,088,491 probably null Het
Pcnx A G 12: 81,979,094 T1538A probably damaging Het
Polr1a T A 6: 71,963,748 V47D probably damaging Het
Prune2 A G 19: 17,118,638 E502G probably benign Het
Ralgapa2 C T 2: 146,315,014 V1886M probably damaging Het
Rapgef3 T A 15: 97,750,300 H676L probably benign Het
Rbm20 A T 19: 53,840,991 N607Y probably damaging Het
Smc5 G A 19: 23,259,768 T233I possibly damaging Het
Snx13 A T 12: 35,133,307 probably null Het
Suz12 T A 11: 80,025,950 C510S probably benign Het
Tab2 A T 10: 7,919,992 M242K probably benign Het
Tep1 A G 14: 50,866,091 probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Ins2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5405:Ins2 UTSW 7 142679397 missense probably damaging 1.00
R6125:Ins2 UTSW 7 142679693 splice site probably null
R7766:Ins2 UTSW 7 142678757 missense probably benign 0.36
R7814:Ins2 UTSW 7 142679586 intron probably benign
R8064:Ins2 UTSW 7 142678816 missense probably benign 0.04
Posted On2014-05-07