Incidental Mutation 'IGL02458:Igf2'
ID294500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igf2
Ensembl Gene ENSMUSG00000048583
Gene Nameinsulin-like growth factor 2
SynonymsM6pr, Mpr, Igf-2, Igf-II, Peg2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.433) question?
Stock #IGL02458
Quality Score
Status
Chromosome7
Chromosomal Location142650766-142666816 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 142654048 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 115 (D115G)
Ref Sequence ENSEMBL: ENSMUSP00000114076 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000033] [ENSMUST00000097936] [ENSMUST00000105935] [ENSMUST00000105936] [ENSMUST00000121128] [ENSMUST00000145896] [ENSMUST00000178921] [ENSMUST00000228850]
Predicted Effect probably benign
Transcript: ENSMUST00000000033
AA Change: D104G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000000033
Gene: ENSMUSG00000048583
AA Change: D104G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 30 84 2.09e-22 SMART
Pfam:IGF2_C 112 166 3.2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093631
Predicted Effect probably benign
Transcript: ENSMUST00000097936
AA Change: D104G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000095549
Gene: ENSMUSG00000048583
AA Change: D104G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 30 84 2.09e-22 SMART
Pfam:IGF2_C 112 166 3.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105935
AA Change: D104G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101555
Gene: ENSMUSG00000048583
AA Change: D104G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 30 84 2.09e-22 SMART
Pfam:IGF2_C 112 166 3.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105936
AA Change: D104G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000101556
Gene: ENSMUSG00000048583
AA Change: D104G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 30 84 2.09e-22 SMART
Pfam:IGF2_C 112 166 3.2e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121128
AA Change: D115G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000114076
Gene: ENSMUSG00000048583
AA Change: D115G

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
IlGF 41 95 2.09e-22 SMART
Pfam:IGF2_C 123 177 6.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143666
Predicted Effect probably benign
Transcript: ENSMUST00000145896
SMART Domains Protein: ENSMUSP00000122653
Gene: ENSMUSG00000048583

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
IlGF 30 84 2.09e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163148
Predicted Effect probably benign
Transcript: ENSMUST00000178921
SMART Domains Protein: ENSMUSP00000136786
Gene: ENSMUSG00000048583

DomainStartEndE-ValueType
IlGF 67 121 2.09e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000228850
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the insulin-like growth factor (IGF) family of proteins that promote growth and development during fetal and postnatal life. It is an imprinted gene that is expressed only from the paternal allele. The encoded protein undergoes proteolytic processing to generate a mature peptide. The transgenic overexpression of this gene in mice results in prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and skeletal abnormalities. Mice lacking the encoded protein exhibit growth deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mutations that are paternally transmitted result in growth deficiency. Heterozygous mice inheriting a mutant allele from their mother appear to be phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 40,753,807 I37L probably benign Het
Alpk1 A G 3: 127,681,319 probably null Het
Ankrd33 T C 15: 101,116,607 F8L probably damaging Het
Avil A G 10: 127,016,353 K669R probably benign Het
Bcor G T X: 12,048,510 L1165I probably damaging Het
C7 A G 15: 5,059,389 probably benign Het
Cc2d2a A G 5: 43,718,554 I958V probably benign Het
Cenpe A T 3: 135,230,108 K435* probably null Het
Chrna7 G A 7: 63,106,094 L235F probably damaging Het
Col6a3 C A 1: 90,779,197 V2065L unknown Het
Copb1 A T 7: 114,246,785 N183K probably benign Het
Cpn2 G A 16: 30,260,835 A16V probably benign Het
Cul1 A G 6: 47,525,608 K769E possibly damaging Het
Ddx58 A G 4: 40,229,536 S83P probably damaging Het
Deup1 C T 9: 15,592,360 V302M probably benign Het
Dnah17 T C 11: 118,036,350 K3871E probably damaging Het
Dnah6 A G 6: 73,027,448 V3844A probably benign Het
Dnah7a A T 1: 53,618,328 L763* probably null Het
Donson A T 16: 91,681,176 W461R probably damaging Het
Dpp10 T C 1: 123,341,689 I664V probably benign Het
Dusp8 T A 7: 142,082,747 T369S probably benign Het
Dync2h1 A T 9: 7,117,422 L56Q probably damaging Het
Ecd A T 14: 20,324,477 S532T probably benign Het
Frg2f1 G A 4: 119,530,957 T115I probably damaging Het
Gpatch2l A G 12: 86,288,961 probably benign Het
Gtf3c2 T A 5: 31,159,523 probably null Het
Haghl T C 17: 25,783,496 probably benign Het
Hoxc8 A T 15: 102,992,749 N208I probably damaging Het
Jag2 T A 12: 112,915,993 D385V probably damaging Het
Laptm4b A G 15: 34,258,742 H54R probably benign Het
Lrp2 A G 2: 69,521,773 S640P probably damaging Het
Map3k8 A C 18: 4,334,660 V328G probably damaging Het
Mfsd13a A G 19: 46,372,247 E388G probably damaging Het
Ms4a13 G A 19: 11,171,928 T168I probably benign Het
Mtg1 C A 7: 140,150,172 Q294K probably benign Het
Myh3 C T 11: 67,096,940 A1413V possibly damaging Het
Neo1 A T 9: 58,893,867 probably benign Het
Ogfod3 T C 11: 121,200,923 E119G probably benign Het
Olfr1250 A G 2: 89,657,348 L31P probably damaging Het
Olfr1331 A G 4: 118,869,300 N173S possibly damaging Het
Olfr331 A T 11: 58,502,247 M109K probably benign Het
Olfr800 A T 10: 129,660,606 I267F probably benign Het
Olfr988 G A 2: 85,353,662 T88I probably benign Het
Parvb G T 15: 84,303,434 D248Y probably damaging Het
Pcdh11x A T X: 120,400,618 H586L possibly damaging Het
Phactr2 T C 10: 13,261,828 E120G probably damaging Het
Ppfibp2 A T 7: 107,742,964 Q775L probably damaging Het
Rcbtb1 A G 14: 59,229,994 Y427C probably damaging Het
Rftn2 A T 1: 55,211,192 C131* probably null Het
Rps6ka2 A G 17: 7,289,003 D474G probably benign Het
Rsbn1l T C 5: 20,951,736 E17G probably damaging Het
Ryr2 T C 13: 11,705,699 M2688V probably benign Het
Slc22a18 C A 7: 143,492,837 probably benign Het
Smarcc1 A G 9: 110,132,126 probably benign Het
Soat2 T C 15: 102,162,115 V451A probably damaging Het
Sptlc2 A T 12: 87,309,893 probably benign Het
Tada1 C T 1: 166,392,634 L308F probably damaging Het
Tango2 A T 16: 18,310,867 probably null Het
Tbc1d15 A T 10: 115,229,206 V158D probably damaging Het
Tcrg-V3 A G 13: 19,243,253 Y102C probably damaging Het
Tmx2 A T 2: 84,673,244 probably benign Het
Tpte T A 8: 22,305,858 I79K probably benign Het
Trav6-1 A G 14: 52,638,742 I40V probably benign Het
Ubash3a T C 17: 31,231,481 S377P possibly damaging Het
Vmn2r7 T C 3: 64,693,025 D575G probably damaging Het
Vps41 A G 13: 18,853,479 D704G possibly damaging Het
Vwa5a T C 9: 38,726,963 S261P possibly damaging Het
Zc3hav1 A G 6: 38,340,329 V112A probably damaging Het
Other mutations in Igf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2012:Igf2 UTSW 7 142654399 missense probably damaging 1.00
R4024:Igf2 UTSW 7 142654307 missense probably benign 0.23
R4275:Igf2 UTSW 7 142655786 missense probably benign 0.00
R5247:Igf2 UTSW 7 142653931 missense possibly damaging 0.90
R5825:Igf2 UTSW 7 142653855 missense probably damaging 0.97
R6185:Igf2 UTSW 7 142658381 missense possibly damaging 0.95
R7286:Igf2 UTSW 7 142655818 missense possibly damaging 0.71
Posted On2015-04-16