Mutagenetix > Incidental Mutation

Incidental Mutation 'R4544:Insig2'

333648

Institutional Source

Beutler Lab

Gene Symbol

Insig2

Ensembl Gene

ENSMUSG00000003721

Gene Name

insulin induced gene 2

Synonyms

C730043J18Rik, Insig-2, 2900053I11Rik

MMRRC Submission

041779-MU

Accession Numbers

Essential gene?

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

Stock #

R4544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121232082-121260318 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 121239921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140292 (fasta)

Gene Model

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

AlphaFold

Q91WG1

Predicted Effect

probably benign
Transcript: ENSMUST00000003818

SMART Domains

Protein: ENSMUSP00000003818
Gene: ENSMUSG00000003721

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

Predicted Effect

probably benign
Transcript: ENSMUST00000071064

SMART Domains

Protein: ENSMUSP00000065485
Gene: ENSMUSG00000003721

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159085

SMART Domains

Protein: ENSMUSP00000124345
Gene: ENSMUSG00000003721

Domain	Start	End	E-Value	Type
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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160968

SMART Domains

Protein: ENSMUSP00000123747
Gene: ENSMUSG00000003721

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162019

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 benign
Transcript: ENSMUST00000186915

SMART Domains

Protein: ENSMUSP00000140292
Gene: ENSMUSG00000003721

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
C1s1	A	G	6: 124,508,499 (GRCm39)	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Chil4	C	A	3: 106,117,922 (GRCm39)	R116L	probably damaging	Het
Cmpk2	A	G	12: 26,528,016 (GRCm39)	E411G	probably damaging	Het
Cmya5	G	A	13: 93,228,426 (GRCm39)	R2221*	probably null	Het
Csmd1	A	T	8: 16,760,652 (GRCm39)	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,603,726 (GRCm39)		probably benign	Het
Ednra	A	G	8: 78,401,540 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,549,603 (GRCm39)		probably null	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Fndc1	T	A	17: 7,992,376 (GRCm39)	D440V	unknown	Het
Gm9934	A	G	7: 92,702,188 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ifi205	T	C	1: 173,854,139 (GRCm39)	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,409,693 (GRCm39)		probably null	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Krt23	G	A	11: 99,369,102 (GRCm39)	T397M	probably benign	Het
Lepr	G	A	4: 101,625,425 (GRCm39)	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,806,382 (GRCm39)	P25L	probably damaging	Het
Lsr	C	T	7: 30,671,401 (GRCm39)	V111M	probably damaging	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Mkx	T	C	18: 7,000,651 (GRCm39)	Y97C	probably damaging	Het
Mndal	A	T	1: 173,703,230 (GRCm39)	Y58*	probably null	Het
Myo9b	T	C	8: 71,780,585 (GRCm39)	V494A	probably damaging	Het
Nek1	C	T	8: 61,469,338 (GRCm39)	Q132*	probably null	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Or6c5	A	C	10: 129,074,027 (GRCm39)	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pde8a	A	T	7: 80,977,847 (GRCm39)	R713S	probably damaging	Het
Pex10	T	C	4: 155,154,952 (GRCm39)	Y235H	probably benign	Het
Pik3cb	T	A	9: 98,921,812 (GRCm39)	K1050I	probably damaging	Het
Prss56	A	G	1: 87,112,364 (GRCm39)	D85G	probably damaging	Het
Psg26	T	C	7: 18,212,464 (GRCm39)	N297S	probably damaging	Het
Rdh16f1	T	C	10: 127,626,706 (GRCm39)	L253S	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,669,218 (GRCm39)		probably null	Het
Sorbs1	G	A	19: 40,300,294 (GRCm39)	T575M	probably damaging	Het
Syne3	T	A	12: 104,925,728 (GRCm39)	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,470,742 (GRCm39)	T73A	probably benign	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Uba52rt	C	T	4: 3,973,244 (GRCm39)	R106H	probably benign	Het
Ubr3	G	A	2: 69,786,437 (GRCm39)	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,570,399 (GRCm39)	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TGGGGCTTGGAAAGTTCAATTC -3'
(R):5'- TGTGTAACTTAATGGCTGCCTG -3'

Sequencing Primer
(F):5'- TGTAAGGAATTTAATGGCCTAAGGAC -3'
(R):5'- GCATCTAGGAGAACCTCA -3'

Posted On

2015-08-18