Mutagenetix > Incidental Mutation

Incidental Mutation 'R8340:Insig2'

644822

Institutional Source

Beutler Lab

Gene Symbol

Insig2

Ensembl Gene

ENSMUSG00000003721

Gene Name

insulin induced gene 2

Synonyms

C730043J18Rik, Insig-2, 2900053I11Rik

MMRRC Submission

067864-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R8340 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121232082-121260318 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121234946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 153 (S153R)

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

probably damaging
Transcript: ENSMUST00000003818
AA Change: S153R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721
AA Change: S153R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000071064
AA Change: S153R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721
AA Change: S153R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000159085
AA Change: S153R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721
AA Change: S153R

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

probably damaging
Transcript: ENSMUST00000160968
AA Change: S153R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721
AA Change: S153R

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

Predicted Effect

probably benign
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

probably damaging
Transcript: ENSMUST00000186915
AA Change: S45R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721
AA Change: S45R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	C	T	7: 81,435,839 (GRCm39)	V91M	probably damaging	Het
Actr2	A	G	11: 20,044,435 (GRCm39)	V57A	possibly damaging	Het
Aoah	A	G	13: 21,184,112 (GRCm39)	Y392C	probably damaging	Het
Armc6	T	G	8: 70,673,502 (GRCm39)	N407T	probably damaging	Het
BC024139	A	G	15: 76,005,670 (GRCm39)	V484A	probably benign	Het
Bdp1	A	G	13: 100,202,476 (GRCm39)	V716A	possibly damaging	Het
C2cd2	T	C	16: 97,670,013 (GRCm39)	E550G	probably benign	Het
Cbl	A	G	9: 44,070,297 (GRCm39)	S512P	possibly damaging	Het
Chac2	C	G	11: 30,927,511 (GRCm39)	G136A	probably damaging	Het
Crhr2	C	T	6: 55,079,831 (GRCm39)	V170M	probably damaging	Het
Cyp2c54	T	A	19: 40,060,831 (GRCm39)	D104V	possibly damaging	Het
Dhtkd1	T	A	2: 5,924,408 (GRCm39)	S402C	probably damaging	Het
Efcab3	A	G	11: 104,876,856 (GRCm39)	I4099V	unknown	Het
Etv3	A	G	3: 87,443,856 (GRCm39)	D480G	possibly damaging	Het
Fam186b	A	T	15: 99,177,595 (GRCm39)	I577K	probably benign	Het
Foxe1	T	C	4: 46,344,437 (GRCm39)	Y82H	possibly damaging	Het
Gsdma	T	A	11: 98,557,421 (GRCm39)	V120E	probably benign	Het
Isx	T	A	8: 75,616,688 (GRCm39)	I105N	probably damaging	Het
Klra4	T	A	6: 130,042,257 (GRCm39)	E3D	probably benign	Het
Mkln1	G	T	6: 31,409,878 (GRCm39)	R172L	possibly damaging	Het
Myrf	A	T	19: 10,192,705 (GRCm39)	S605T	probably benign	Het
Nell1	T	A	7: 49,870,021 (GRCm39)	D232E	probably damaging	Het
Nemf	T	G	12: 69,400,659 (GRCm39)	T139P	possibly damaging	Het
Nrdc	A	C	4: 108,858,351 (GRCm39)	K108Q	probably damaging	Het
Or10c1	G	T	17: 37,522,075 (GRCm39)	T223N	possibly damaging	Het
Or14j3	T	C	17: 37,901,034 (GRCm39)	D70G	probably damaging	Het
Or3a10	G	T	11: 73,935,851 (GRCm39)	P83Q	probably damaging	Het
Pcnx4	T	C	12: 72,613,851 (GRCm39)	S599P	probably damaging	Het
Plscr2	A	G	9: 92,173,130 (GRCm39)	N224S	probably benign	Het
Poln	A	G	5: 34,307,118 (GRCm39)	S28P	probably damaging	Het
Prr36	A	G	8: 4,264,224 (GRCm39)	S481P	unknown	Het
Scrn1	G	A	6: 54,511,518 (GRCm39)	A74V	possibly damaging	Het
Slc22a22	T	A	15: 57,127,086 (GRCm39)		probably null	Het
Srpra	A	G	9: 35,127,102 (GRCm39)	D592G	probably damaging	Het
Tnc	T	C	4: 63,926,036 (GRCm39)	N915D	probably damaging	Het
Trpm2	T	A	10: 77,759,458 (GRCm39)	K1109*	probably null	Het
Tsks	C	T	7: 44,602,144 (GRCm39)	R287W	probably damaging	Het
Ush1c	T	G	7: 45,860,630 (GRCm39)	M456L	probably benign	Het
Usp38	A	G	8: 81,712,031 (GRCm39)	V668A	probably benign	Het
Vmn2r117	T	A	17: 23,679,511 (GRCm39)	Q571L	probably benign	Het
Vmn2r13	A	T	5: 109,322,006 (GRCm39)	D230E	probably benign	Het
Vmn2r25	C	T	6: 123,829,972 (GRCm39)	G60S	probably benign	Het
Vmn2r82	A	G	10: 79,217,036 (GRCm39)	D456G	probably benign	Het
Zfp738	A	C	13: 67,819,231 (GRCm39)	H253Q	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
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
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'- CTAGGGCAAGGGTACTCAAG -3'
(R):5'- TCCAGCAGGAACAGACTGTCTC -3'

Sequencing Primer
(F):5'- AAGTGAGTCTGTATATTAAACCAGCC -3'
(R):5'- GCAGGAACAGACTGTCTCATTTTAG -3'

Posted On

2020-09-02