Incidental Mutation 'R0037:Insig2'
ID 15758
Institutional Source Beutler Lab
Gene Symbol Insig2
Ensembl Gene ENSMUSG00000003721
Gene Name insulin induced gene 2
Synonyms C730043J18Rik, Insig-2, 2900053I11Rik
MMRRC Submission 038331-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R0037 (G1)
Quality Score
Status Validated
Chromosome 1
Chromosomal Location 121232082-121260318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121234649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 194 (C194S)
Ref Sequence ENSEMBL: ENSMUSP00000123747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000186915] [ENSMUST00000162582] [ENSMUST00000162790]
AlphaFold Q91WG1
Predicted Effect probably damaging
Transcript: ENSMUST00000003818
AA Change: C194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: C194S

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071064
AA Change: C194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: C194S

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159085
AA Change: C194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: C194S

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159528
Predicted Effect probably benign
Transcript: ENSMUST00000160688
SMART Domains Protein: ENSMUSP00000123702
Gene: ENSMUSG00000003721

DomainStartEndE-ValueType
Pfam:INSIG 28 76 7.2e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000160968
AA Change: C194S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: C194S

DomainStartEndE-ValueType
Pfam:INSIG 30 211 7.7e-50 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000186915
AA Change: C86S

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: C86S

DomainStartEndE-ValueType
Pfam:INSIG 1 103 1.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162019
Predicted Effect probably benign
Transcript: ENSMUST00000162582
SMART Domains Protein: ENSMUSP00000125046
Gene: ENSMUSG00000003721

DomainStartEndE-ValueType
Pfam:INSIG 28 85 1.3e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162790
SMART Domains Protein: ENSMUSP00000124697
Gene: ENSMUSG00000003721

DomainStartEndE-ValueType
Pfam:INSIG 28 146 1.3e-49 PFAM
Meta Mutation Damage Score 0.3489 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 73.9%
  • 10x: 52.8%
  • 20x: 32.9%
Validation Efficiency 94% (83/88)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 G A 8: 111,769,891 (GRCm39) R330Q possibly damaging Het
Amph A T 13: 19,284,823 (GRCm39) S250C possibly damaging Het
Ankrd61 T C 5: 143,831,795 (GRCm39) N3S probably damaging Het
Camsap2 C T 1: 136,209,630 (GRCm39) E621K probably damaging Het
Cpt2 A G 4: 107,765,171 (GRCm39) S152P probably damaging Het
Csmd1 T A 8: 15,967,248 (GRCm39) Q3205L probably damaging Het
Dag1 G T 9: 108,084,552 (GRCm39) P863Q probably damaging Het
Dclk1 A G 3: 55,163,480 (GRCm39) I191V probably benign Het
Ddhd1 A G 14: 45,847,967 (GRCm39) L567P probably damaging Het
Enox1 T C 14: 77,936,750 (GRCm39) probably benign Het
Exoc3 T C 13: 74,347,658 (GRCm39) E104G probably damaging Het
Foxp1 T A 6: 99,139,930 (GRCm39) Q17L probably damaging Het
Fscn1 A G 5: 142,956,449 (GRCm39) probably benign Het
Fut8 T C 12: 77,411,811 (GRCm39) V91A probably benign Het
Gm5475 T A 15: 100,322,083 (GRCm39) Y77* probably null Het
Gm5800 T C 14: 51,953,605 (GRCm39) probably benign Het
Hs2st1 T A 3: 144,143,405 (GRCm39) K213* probably null Het
Il5ra T A 6: 106,719,647 (GRCm39) Y62F probably damaging Het
Inpp5d A G 1: 87,635,851 (GRCm39) E734G probably damaging Het
Lemd3 A C 10: 120,761,361 (GRCm39) H898Q possibly damaging Het
Lrp4 A G 2: 91,301,548 (GRCm39) T43A probably benign Het
Mast3 C T 8: 71,236,343 (GRCm39) probably null Het
Melk T C 4: 44,360,864 (GRCm39) probably benign Het
Myo10 C T 15: 25,666,618 (GRCm39) probably benign Het
Nlrc5 G A 8: 95,216,163 (GRCm39) V967M probably benign Het
Nlrp9b T A 7: 19,757,647 (GRCm39) F295I probably damaging Het
Phf3 A T 1: 30,843,999 (GRCm39) D1653E probably benign Het
Ppfia4 A T 1: 134,251,827 (GRCm39) L449Q probably damaging Het
Ppp1r16b T A 2: 158,599,129 (GRCm39) I367N probably damaging Het
Ralgapb T C 2: 158,279,331 (GRCm39) L139S probably damaging Het
Slc20a1 T C 2: 129,052,692 (GRCm39) V658A probably damaging Het
Son C A 16: 91,461,616 (GRCm39) A347E probably damaging Het
Tprg1l C A 4: 154,244,594 (GRCm39) V134L possibly damaging Het
Trim24 A T 6: 37,934,484 (GRCm39) N733I probably damaging Het
Uggt1 A T 1: 36,225,013 (GRCm39) D540E probably benign Het
Urb2 T A 8: 124,773,934 (GRCm39) F1488L probably damaging Het
Utp20 T C 10: 88,634,266 (GRCm39) D810G probably benign Het
Zfp473 T A 7: 44,383,324 (GRCm39) K335N probably damaging Het
Other mutations in Insig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Insig2 APN 1 121,233,676 (GRCm39) missense probably damaging 1.00
IGL03038:Insig2 APN 1 121,247,403 (GRCm39) missense probably damaging 1.00
R1458:Insig2 UTSW 1 121,234,885 (GRCm39) missense probably benign 0.07
R4544:Insig2 UTSW 1 121,239,921 (GRCm39) splice site probably benign
R5077:Insig2 UTSW 1 121,239,964 (GRCm39) missense probably damaging 0.98
R7325:Insig2 UTSW 1 121,234,666 (GRCm39) missense possibly damaging 0.82
R7829:Insig2 UTSW 1 121,235,058 (GRCm39) splice site probably null
R7839:Insig2 UTSW 1 121,240,049 (GRCm39) missense probably benign 0.01
R8340:Insig2 UTSW 1 121,234,946 (GRCm39) missense probably damaging 1.00
R9646:Insig2 UTSW 1 121,240,040 (GRCm39) missense probably damaging 1.00
X0061:Insig2 UTSW 1 121,234,692 (GRCm39) missense probably damaging 0.99
X0066:Insig2 UTSW 1 121,233,678 (GRCm39) critical splice acceptor site probably null
Posted On 2012-12-21