Mutagenetix > Incidental Mutation

Incidental Mutation 'R7325:Insig2'

568796

Institutional Source

Beutler Lab

Gene Symbol

Insig2

Ensembl Gene

ENSMUSG00000003721

Gene Name

insulin induced gene 2

Synonyms

C730043J18Rik, Insig-2, 2900053I11Rik

MMRRC Submission

045419-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

R7325 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121232082-121260318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121234666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 188 (V188A)

Ref Sequence

ENSEMBL: ENSMUSP00000003818 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003818] [ENSMUST00000071064] [ENSMUST00000159085] [ENSMUST00000160688] [ENSMUST00000160968] [ENSMUST00000162582] [ENSMUST00000162790] [ENSMUST00000186915]

AlphaFold

Q91WG1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003818
AA Change: V188A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: V188A

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071064
AA Change: V188A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: V188A

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159085
AA Change: V188A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: V188A

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	211	9.2e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160688

SMART Domains

Protein: ENSMUSP00000123702
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	76	7.2e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160968
AA Change: V188A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: V188A

Domain	Start	End	E-Value	Type
Pfam:INSIG	30	211	7.7e-50	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000162582

SMART Domains

Protein: ENSMUSP00000125046
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	85	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162790

SMART Domains

Protein: ENSMUSP00000124697
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
Pfam:INSIG	28	146	1.3e-49	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186915
AA Change: V80A

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: V80A

Domain	Start	End	E-Value	Type
Pfam:INSIG	1	103	1.1e-42	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	T	A	1: 25,571,711 (GRCm39)	Q402L	probably benign	Het
Afap1l1	T	C	18: 61,869,917 (GRCm39)	T638A	probably benign	Het
Agtr1a	A	C	13: 30,565,890 (GRCm39)	K318N	possibly damaging	Het
Anks1b	A	G	10: 90,777,294 (GRCm39)	T1095A	probably damaging	Het
Ap3d1	A	T	10: 80,559,637 (GRCm39)	I207N	probably damaging	Het
Arhgef11	T	C	3: 87,620,599 (GRCm39)	L484P	possibly damaging	Het
Astn2	C	T	4: 65,460,906 (GRCm39)	S1076N	probably benign	Het
Baat	C	A	4: 49,490,213 (GRCm39)	L290F	probably benign	Het
Boll	T	C	1: 55,343,757 (GRCm39)	Y222C	probably damaging	Het
Bphl	A	T	13: 34,234,324 (GRCm39)	I147F	possibly damaging	Het
Cadps2	T	G	6: 23,409,934 (GRCm39)	D766A	unknown	Het
Cd300lb	T	A	11: 114,815,858 (GRCm39)	K210M	probably damaging	Het
Cdan1	T	C	2: 120,555,185 (GRCm39)	Q797R	probably benign	Het
Celsr1	T	A	15: 85,917,209 (GRCm39)	S255C	probably damaging	Het
Cfap91	T	A	16: 38,141,963 (GRCm39)		probably null	Het
Cip2a	T	A	16: 48,826,184 (GRCm39)	M417K	probably benign	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Dennd5b	T	A	6: 148,922,068 (GRCm39)	K815N	probably benign	Het
Exd1	A	G	2: 119,350,620 (GRCm39)	V547A	probably benign	Het
Fbxo15	C	T	18: 84,977,243 (GRCm39)	R52C	probably damaging	Het
Fip1l1	A	G	5: 74,697,460 (GRCm39)		probably null	Het
Flg2	T	A	3: 93,110,679 (GRCm39)	N902K	unknown	Het
Fyttd1	T	A	16: 32,704,618 (GRCm39)	N76K	probably benign	Het
Gins1	T	A	2: 150,758,086 (GRCm39)	D57E	probably benign	Het
Gm5565	G	C	5: 146,095,171 (GRCm39)		probably null	Het
Gpsm2	T	C	3: 108,610,244 (GRCm39)	Y72C	probably damaging	Het
Hace1	C	A	10: 45,465,603 (GRCm39)	S53*	probably null	Het
Ism1	T	C	2: 139,598,963 (GRCm39)	V312A	probably damaging	Het
Jmy	A	T	13: 93,609,251 (GRCm39)	Y353N	probably damaging	Het
Maz	A	C	7: 126,624,725 (GRCm39)	V265G	probably benign	Het
Mtmr14	T	A	6: 113,246,509 (GRCm39)	I426N	probably damaging	Het
Or1e34	C	T	11: 73,779,101 (GRCm39)	M32I	probably benign	Het
Or5b113	A	G	19: 13,342,001 (GRCm39)	E3G	probably benign	Het
Or8k22	A	G	2: 86,163,344 (GRCm39)	S119P	possibly damaging	Het
Pcdhac2	T	A	18: 37,278,413 (GRCm39)	N464K	probably damaging	Het
Pcdhb7	T	A	18: 37,476,440 (GRCm39)	H525Q	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Podn	C	T	4: 107,874,899 (GRCm39)		probably null	Het
Prim1	A	G	10: 127,858,788 (GRCm39)	D232G	probably null	Het
Prrt1	T	A	17: 34,851,161 (GRCm39)	M283K	possibly damaging	Het
Rgs9	A	T	11: 109,167,407 (GRCm39)	I65N	probably damaging	Het
Scgb2b26	C	A	7: 33,643,782 (GRCm39)	V53L	probably benign	Het
Shank2	C	A	7: 143,965,422 (GRCm39)	P1010Q	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc17a6	G	T	7: 51,294,766 (GRCm39)	A158S	probably damaging	Het
Slc9a9	C	T	9: 94,594,951 (GRCm39)	H154Y	probably benign	Het
Slco1a8	T	C	6: 141,934,951 (GRCm39)	K379E	probably damaging	Het
Slco2a1	T	A	9: 102,962,948 (GRCm39)		probably null	Het
Snapc3	T	C	4: 83,353,507 (GRCm39)	I182T	probably benign	Het
Taok2	A	G	7: 126,470,260 (GRCm39)	V856A	probably benign	Het
Tep1	T	A	14: 51,103,495 (GRCm39)	N265I	probably damaging	Het
Tespa1	A	T	10: 130,197,910 (GRCm39)	N311Y	probably damaging	Het
Tpmt	G	A	13: 47,194,960 (GRCm39)	Q14*	probably null	Het
Trim33	T	C	3: 103,228,952 (GRCm39)	F353L	possibly damaging	Het
Upp1	T	C	11: 9,084,743 (GRCm39)	V154A	probably damaging	Het
Usp34	T	C	11: 23,369,052 (GRCm39)	I1747T		Het
Vmn1r47	T	C	6: 89,999,254 (GRCm39)	S129P	probably benign	Het
Vmn2r93	A	G	17: 18,524,249 (GRCm39)	Y81C	probably benign	Het
Ybx2	A	T	11: 69,831,181 (GRCm39)	T259S	probably benign	Het
Zfp536	T	C	7: 37,179,285 (GRCm39)	T1107A	probably benign	Het
Zfp583	C	T	7: 6,319,585 (GRCm39)	A476T	probably damaging	Het

Other mutations in Insig2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0037:Insig2	UTSW	1	121,234,649 (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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCAACAAATTCTACCATCCTAC -3'
(R):5'- CTTAGCAACCGTTGTCACCC -3'

Sequencing Primer
(F):5'- ACCATCCTACCCATAACCTATTTTTC -3'
(R):5'- GTCACCCAACTGTTAGTCTACAATGG -3'

Posted On

2019-09-13