Incidental Mutation 'R5518:Ins1'
ID 431441
Institutional Source Beutler Lab
Gene Symbol Ins1
Ensembl Gene ENSMUSG00000035804
Gene Name insulin I
Synonyms
MMRRC Submission 043077-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.501) question?
Stock # R5518 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 52252735-52253453 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52253177 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 39 (L39P)
Ref Sequence ENSEMBL: ENSMUSP00000049095 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039652]
AlphaFold P01325
PDB Structure Crystal Structure of H-2D in complex with an insulin derived peptide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000039652
AA Change: L39P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049095
Gene: ENSMUSG00000035804
AA Change: L39P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 28 107 2.92e-35 SMART
Meta Mutation Damage Score 0.8779 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 94.2%
  • 20x: 86.3%
Validation Efficiency 100% (75/75)
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. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for disruptions in this gene have a somewhat increased pancreatic beta cell mass and a limited amount of hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,769,873 (GRCm39) E881K probably benign Het
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Abl1 T A 2: 31,680,754 (GRCm39) C349S probably damaging Het
Acot11 C A 4: 106,607,207 (GRCm39) V459L probably benign Het
Ank2 A T 3: 126,753,348 (GRCm39) V311D probably damaging Het
Ankrd11 C G 8: 123,617,733 (GRCm39) E2040Q possibly damaging Het
Ankrd26 T C 6: 118,525,869 (GRCm39) I359V probably benign Het
Armc3 T G 2: 19,302,739 (GRCm39) L684V probably benign Het
Asb10 G A 5: 24,744,643 (GRCm39) P184S probably damaging Het
Atp10b T C 11: 43,042,463 (GRCm39) S8P possibly damaging Het
Blk G T 14: 63,615,956 (GRCm39) S324R possibly damaging Het
C4b G C 17: 34,953,416 (GRCm39) N1022K probably benign Het
Card6 G T 15: 5,134,696 (GRCm39) T169K probably damaging Het
Catsper2 T C 2: 121,236,844 (GRCm39) T268A possibly damaging Het
Cbx3 C T 6: 51,458,726 (GRCm39) P64S probably benign Het
Chchd6 A G 6: 89,544,567 (GRCm39) probably null Het
Cntn1 G A 15: 92,212,534 (GRCm39) E899K probably benign Het
Col6a4 A T 9: 105,949,387 (GRCm39) S749R possibly damaging Het
Cpne3 T G 4: 19,553,779 (GRCm39) N84T probably benign Het
Dcxr A C 11: 120,617,025 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Emsy T C 7: 98,242,818 (GRCm39) Q1107R possibly damaging Het
Erbb2 G T 11: 98,313,596 (GRCm39) C221F probably damaging Het
Exoc3l T C 8: 106,019,795 (GRCm39) N353D probably benign Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
G3bp2 T A 5: 92,216,347 (GRCm39) H63L probably benign Het
Galnt17 A G 5: 130,929,428 (GRCm39) Y460H probably damaging Het
Gm6003 T A 7: 32,865,004 (GRCm39) noncoding transcript Het
Ighv5-12-4 A G 12: 113,726,154 (GRCm39) L23P probably damaging Het
Itpr3 T G 17: 27,306,566 (GRCm39) V210G probably damaging Het
Klrb1 T A 6: 128,683,488 (GRCm39) T210S probably benign Het
Krtap24-1 A T 16: 88,408,596 (GRCm39) F177I probably damaging Het
Lrrc37 A T 11: 103,506,079 (GRCm39) I1963K probably benign Het
Mcat A G 15: 83,431,875 (GRCm39) probably null Het
Mknk2 A T 10: 80,504,475 (GRCm39) C229S possibly damaging Het
Mta2 C A 19: 8,925,456 (GRCm39) Q362K probably benign Het
Ndst4 T C 3: 125,232,105 (GRCm39) Y225H probably benign Het
Or4d11 T C 19: 12,013,429 (GRCm39) R226G probably damaging Het
Pcdha1 A G 18: 37,065,415 (GRCm39) D693G probably benign Het
Pik3r5 G A 11: 68,368,294 (GRCm39) D100N possibly damaging Het
Pld3 T C 7: 27,231,796 (GRCm39) D465G probably damaging Het
Prkdc T C 16: 15,496,172 (GRCm39) Y788H probably damaging Het
Ptprt T A 2: 162,120,143 (GRCm39) D108V probably damaging Het
Rasgrp3 T A 17: 75,823,354 (GRCm39) M475K probably benign Het
Rbak A G 5: 143,159,064 (GRCm39) L663P probably damaging Het
Rnf17 A G 14: 56,719,590 (GRCm39) N947D probably damaging Het
Ryr2 T C 13: 11,702,795 (GRCm39) S2898G probably benign Het
Serpina1e A C 12: 103,917,087 (GRCm39) L194R probably damaging Het
Smg6 T C 11: 74,944,724 (GRCm39) S158P probably damaging Het
Smtnl2 A T 11: 72,292,342 (GRCm39) V269E possibly damaging Het
Snx14 G T 9: 88,265,855 (GRCm39) P760Q probably damaging Het
Sorl1 T C 9: 41,948,508 (GRCm39) E759G possibly damaging Het
Sspo C T 6: 48,473,588 (GRCm39) T4906M possibly damaging Het
Syne2 T A 12: 75,991,944 (GRCm39) F1970I possibly damaging Het
Tekt3 C A 11: 62,974,768 (GRCm39) H362Q probably benign Het
Tmem121 T C 12: 113,152,547 (GRCm39) V255A possibly damaging Het
Tmem201 T C 4: 149,802,534 (GRCm39) T614A probably benign Het
Tnc T C 4: 63,935,916 (GRCm39) D340G probably damaging Het
Ttc28 A T 5: 111,373,794 (GRCm39) T1046S probably benign Het
Ubxn2a T C 12: 4,952,238 (GRCm39) D8G probably benign Het
Vwde T C 6: 13,186,937 (GRCm39) N850S probably benign Het
Zfp280d A G 9: 72,231,417 (GRCm39) H451R probably damaging Het
Zfp462 T C 4: 55,009,818 (GRCm39) C595R probably damaging Het
Zfp768 A G 7: 126,943,583 (GRCm39) S182P probably benign Het
Other mutations in Ins1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01939:Ins1 APN 19 52,253,173 (GRCm39) missense probably damaging 1.00
IGL02218:Ins1 APN 19 52,253,121 (GRCm39) missense probably benign
R4849:Ins1 UTSW 19 52,253,384 (GRCm39) missense probably damaging 0.97
R7466:Ins1 UTSW 19 52,252,858 (GRCm39) start gained probably benign
R8491:Ins1 UTSW 19 52,252,808 (GRCm39) start gained probably benign
R9307:Ins1 UTSW 19 52,253,258 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TGGGCTCCTCTCTTACATGG -3'
(R):5'- GGCCTTAGTTGCAGTAGTTCTCC -3'

Sequencing Primer
(F):5'- ACATGGATCTTTTGCTAGCCTCAAC -3'
(R):5'- CAGTAGTTCTCCAGCTGGTAGAG -3'
Posted On 2016-10-05