Incidental Mutation 'R1458:Insig2'
ID161840
Institutional Source Beutler Lab
Gene Symbol Insig2
Ensembl Gene ENSMUSG00000003721
Gene Nameinsulin induced gene 2
SynonymsC730043J18Rik, Insig-2, 2900053I11Rik
MMRRC Submission 039513-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.355) question?
Stock #R1458 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location121304353-121332589 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121307156 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 174 (Y174H)
Ref Sequence ENSEMBL: ENSMUSP00000123747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000162582] [ENSMUST00000162790] [ENSMUST00000186915]
Predicted Effect probably benign
Transcript: ENSMUST00000003818
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: Y174H

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000071064
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: Y174H

DomainStartEndE-ValueType
Pfam:INSIG 28 211 9.2e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159085
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: Y174H

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 benign
Transcript: ENSMUST00000160968
AA Change: Y174H

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: Y174H

DomainStartEndE-ValueType
Pfam:INSIG 30 211 7.7e-50 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
Predicted Effect probably benign
Transcript: ENSMUST00000186915
AA Change: Y66H

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: Y66H

DomainStartEndE-ValueType
Pfam:INSIG 1 103 1.1e-42 PFAM
Meta Mutation Damage Score 0.134 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency 98% (95/97)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700036A12Rik A G 9: 60,769,761 noncoding transcript Het
A430110L20Rik T A 1: 181,227,858 noncoding transcript Het
Abce1 T C 8: 79,707,235 K63R possibly damaging Het
Acp6 A G 3: 97,173,788 probably benign Het
Adamts13 T A 2: 26,988,354 L579Q probably damaging Het
Adamtsl3 T A 7: 82,523,320 M497K probably damaging Het
Adgrb2 T A 4: 130,014,591 M1042K possibly damaging Het
Akap12 A T 10: 4,353,693 S168C probably damaging Het
Akap3 A T 6: 126,865,554 M379L probably damaging Het
Aldh6a1 C T 12: 84,439,663 M135I probably null Het
Arhgef12 A G 9: 42,988,998 S860P probably damaging Het
Atp11b A C 3: 35,789,558 T185P probably damaging Het
Bcas1 T C 2: 170,387,951 D243G probably damaging Het
Cdhr2 T A 13: 54,717,872 S228T probably damaging Het
Cic T C 7: 25,279,737 probably benign Het
Cmya5 T A 13: 93,065,327 I3376L probably benign Het
Ctrc C A 4: 141,846,224 probably null Het
D230025D16Rik T C 8: 105,246,556 probably null Het
Dchs1 G T 7: 105,755,244 P2697Q probably damaging Het
Dmbt1 A G 7: 131,044,487 probably benign Het
Drd2 G A 9: 49,402,212 R227H probably damaging Het
Dscc1 C A 15: 55,086,764 C195F probably damaging Het
Dzip1 T A 14: 118,922,713 M28L probably benign Het
Edar A T 10: 58,607,366 S313T probably benign Het
Eef1e1 C A 13: 38,656,123 A69S probably damaging Het
Fbn1 A G 2: 125,301,929 V2760A probably benign Het
Fez1 GACAAACA GACA 9: 36,870,549 probably null Het
Fgl1 C G 8: 41,210,459 A11P possibly damaging Het
Fras1 T C 5: 96,600,733 V689A probably benign Het
Fry T A 5: 150,380,859 D571E probably damaging Het
Gm11232 T A 4: 71,757,213 R104* probably null Het
Gm1527 A G 3: 28,918,050 I439V possibly damaging Het
Gm4922 C A 10: 18,783,892 G361* probably null Het
Gm7052 T A 17: 22,040,466 probably benign Het
Gm7534 T C 4: 134,196,833 D467G probably benign Het
Gpatch8 A T 11: 102,481,229 S494R unknown Het
Gria2 A T 3: 80,732,045 V220E possibly damaging Het
Grik4 G A 9: 42,521,122 H860Y probably benign Het
Gtpbp1 A C 15: 79,707,729 S93R probably damaging Het
Gucy2g C A 19: 55,215,036 probably benign Het
Hist1h2ae C A 13: 23,571,047 probably benign Het
Hmcn1 G A 1: 150,609,700 R4384C probably damaging Het
Hspa12b G C 2: 131,145,192 A678P probably damaging Het
Igsf21 T A 4: 140,028,124 N407Y probably damaging Het
Itpr3 T A 17: 27,118,372 M2413K probably benign Het
Kalrn A T 16: 34,174,487 I1322N probably damaging Het
Klk1b24 T A 7: 44,191,466 M106K possibly damaging Het
Krt81 G T 15: 101,460,317 Q352K probably benign Het
Lca5l A T 16: 96,159,859 S468T possibly damaging Het
Lvrn T C 18: 46,882,385 probably benign Het
Mcpt1 T A 14: 56,019,164 probably benign Het
Med13l T C 5: 118,738,459 M900T probably benign Het
Med16 A G 10: 79,907,478 probably benign Het
Megf6 G T 4: 154,177,121 V68L probably benign Het
Mep1a T C 17: 43,491,672 H154R probably damaging Het
Mrc2 A T 11: 105,337,772 D659V probably benign Het
Mroh8 T A 2: 157,221,304 E799V probably damaging Het
Mrpl21 A G 19: 3,284,808 Y50C possibly damaging Het
Msl1 A G 11: 98,803,982 probably benign Het
Myo1a C A 10: 127,719,937 Q932K probably benign Het
Nav3 A C 10: 109,720,044 S1675R probably damaging Het
Neurl2 A G 2: 164,832,746 V232A possibly damaging Het
Nfatc1 T A 18: 80,665,267 probably benign Het
Odf3l2 A T 10: 79,645,558 probably benign Het
Olfr1362 C T 13: 21,611,822 C49Y probably benign Het
Olfr175-ps1 T A 16: 58,824,676 E11V probably null Het
P4hb A G 11: 120,562,555 probably benign Het
Papss1 T G 3: 131,605,854 I281S probably damaging Het
Pde10a A T 17: 8,964,708 D832V probably damaging Het
Pfkfb2 A T 1: 130,708,190 Y35N possibly damaging Het
Phf20l1 T A 15: 66,604,813 F253Y probably damaging Het
Pkhd1l1 G A 15: 44,516,115 V1046I probably benign Het
Plin3 C T 17: 56,284,337 A148T probably benign Het
Ppp1r8 T C 4: 132,840,631 probably benign Het
Ppp2r3a A G 9: 101,211,312 L604P probably damaging Het
Prdm5 T C 6: 65,883,601 V239A probably damaging Het
Prickle1 A G 15: 93,500,638 S770P probably damaging Het
Prl2c5 T A 13: 13,190,725 I155N probably benign Het
Prom1 T C 5: 44,032,932 probably benign Het
Psg25 C T 7: 18,529,587 G104R probably damaging Het
Rbm19 T C 5: 120,144,029 V817A probably benign Het
Ryr2 T A 13: 11,727,022 Y2091F probably damaging Het
Slc16a4 A G 3: 107,300,932 T253A probably benign Het
Smg7 A T 1: 152,855,843 probably null Het
Spink5 C A 18: 44,007,719 H662N probably benign Het
Taf2 A T 15: 55,059,915 M322K probably damaging Het
Tmc2 T C 2: 130,248,762 F676S probably damaging Het
Tmem177 A G 1: 119,910,185 S255P possibly damaging Het
Trim46 A T 3: 89,235,068 probably null Het
Tubb1 T A 2: 174,450,803 probably null Het
Upf1 T C 8: 70,344,254 T110A probably benign Het
Vmn2r9 T A 5: 108,848,984 I140L probably benign Het
Zfp638 T A 6: 83,944,656 H588Q probably damaging Het
Zfp780b T A 7: 27,964,827 N101I probably damaging Het
Other mutations in Insig2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Insig2 APN 1 121305947 missense probably damaging 1.00
IGL03038:Insig2 APN 1 121319674 missense probably damaging 1.00
R0037:Insig2 UTSW 1 121306920 missense probably damaging 1.00
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
X0061:Insig2 UTSW 1 121306963 missense probably damaging 0.99
X0066:Insig2 UTSW 1 121305949 critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- ACACTGCATGGCCTCAGCTTAC -3'
(R):5'- TGATGGCTCCTTAGCACTGGTCTC -3'

Sequencing Primer
(F):5'- TACCATTGCCAGTTGACGG -3'
(R):5'- CCTTAGCACTGGTCTCAGAAAGTAG -3'
Posted On2014-03-14