Incidental Mutation 'IGL00231:Insig2'
ID2527
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Insig2
Ensembl Gene ENSMUSG00000003721
Gene Nameinsulin induced gene 2
SynonymsC730043J18Rik, Insig-2, 2900053I11Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.421) question?
Stock #IGL00231
Quality Score
Status
Chromosome1
Chromosomal Location121304353-121332589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121305947 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 213 (Y213H)
Ref Sequence ENSEMBL: ENSMUSP00000123747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000162582] [ENSMUST00000162790] [ENSMUST00000186915]
Predicted Effect probably damaging
Transcript: ENSMUST00000003818
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: Y213H

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000071064
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: Y213H

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159085
AA Change: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: Y213H

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159192
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159528
Predicted Effect silent
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: Y213H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: Y213H

DomainStartEndE-ValueType
Pfam:INSIG 30 211 7.7e-50 PFAM
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
Predicted Effect possibly damaging
Transcript: ENSMUST00000186915
AA Change: Y105H

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: Y105H

DomainStartEndE-ValueType
Pfam:INSIG 1 103 1.1e-42 PFAM
Coding Region Coverage
Validation Efficiency
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
9130204L05Rik A G 3: 91,088,358 M79T probably benign Het
Adamtsl1 A G 4: 86,385,640 T1346A probably benign Het
Ccdc102a T C 8: 94,911,638 probably null Het
Cgrrf1 T C 14: 46,832,322 F16S probably damaging Het
Clybl T C 14: 122,379,198 probably benign Het
Cubn T C 2: 13,381,849 E1535G possibly damaging Het
Dmrtc1b C A X: 102,713,627 P226H probably benign Het
Dnah17 G A 11: 118,088,214 A1784V possibly damaging Het
Dnajc24 A G 2: 106,002,003 Y12H probably damaging Het
Drd1 T C 13: 54,053,467 T236A probably benign Het
Ep400 A T 5: 110,687,841 V1934D unknown Het
Flt1 A G 5: 147,580,300 probably null Het
Fut8 A G 12: 77,448,488 K284R probably benign Het
Hcn1 A G 13: 117,975,993 E831G probably damaging Het
Inpp5j A T 11: 3,500,009 probably benign Het
Kcnh4 G A 11: 100,756,995 probably benign Het
Kifc2 T A 15: 76,667,462 probably benign Het
Krt75 T C 15: 101,572,646 E231G probably benign Het
Men1 G A 19: 6,337,207 probably null Het
Mfsd4b2 T A 10: 39,925,061 probably benign Het
Micall2 T A 5: 139,717,556 probably null Het
Olfr1123 A G 2: 87,418,566 T173A possibly damaging Het
Olfr284 C T 15: 98,340,173 S256N possibly damaging Het
Osbp2 C T 11: 3,726,561 D287N possibly damaging Het
Plin1 A G 7: 79,726,660 probably benign Het
Ppl T C 16: 5,089,545 N962S probably benign Het
Psg25 C T 7: 18,526,181 probably benign Het
Ptprt A T 2: 161,810,624 D601E probably benign Het
Sbno2 C A 10: 80,064,506 probably benign Het
Sntg2 T C 12: 30,276,721 D147G probably benign Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Stam2 T A 2: 52,706,406 I307F possibly damaging Het
Tbx21 T G 11: 97,098,923 E481A probably damaging Het
Tsc2 G A 17: 24,608,107 T876I probably damaging Het
Wdfy4 T C 14: 33,102,539 I1308V possibly damaging Het
Wdr37 C T 13: 8,820,505 V143I probably damaging Het
Wdr43 T G 17: 71,652,814 Y550D probably damaging Het
Wnk4 A G 11: 101,268,748 D593G possibly damaging Het
Other mutations in Insig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03038:Insig2 APN 1 121319674 missense probably damaging 1.00
R0037:Insig2 UTSW 1 121306920 missense probably damaging 1.00
R1458:Insig2 UTSW 1 121307156 missense probably benign 0.07
R4544:Insig2 UTSW 1 121312192 splice site probably benign
R5077:Insig2 UTSW 1 121312235 missense probably damaging 0.98
R7325:Insig2 UTSW 1 121306937 missense possibly damaging 0.82
R7839:Insig2 UTSW 1 121312320 missense probably benign 0.01
R7922:Insig2 UTSW 1 121312320 missense probably benign 0.01
X0061:Insig2 UTSW 1 121306963 missense probably damaging 0.99
X0066:Insig2 UTSW 1 121305949 critical splice acceptor site probably null
Posted On2011-12-09