Mutagenetix > Incidental Mutation

Incidental Mutation 'R7766:Ins2'

598245

Institutional Source

Beutler Lab

Gene Symbol

Ins2

Ensembl Gene

ENSMUSG00000000215

Gene Name

insulin II

Synonyms

Mody, Mody4, InsII, Ins-2

MMRRC Submission

045822-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.301) question?

Stock #

R7766 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142232393-142233463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142232494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 97 (T97S)

Ref Sequence

ENSEMBL: ENSMUSP00000000220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000220] [ENSMUST00000105930] [ENSMUST00000105931] [ENSMUST00000105932] [ENSMUST00000105933] [ENSMUST00000105934] [ENSMUST00000125933] [ENSMUST00000162317] [ENSMUST00000210288]

AlphaFold

P01326

Predicted Effect

probably benign
Transcript: ENSMUST00000000220
AA Change: T97S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000000220
Gene: ENSMUSG00000000215
AA Change: T97S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	109	2.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105930

SMART Domains

Protein: ENSMUSP00000101550
Gene: ENSMUSG00000000215

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	79	2.13e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105931

SMART Domains

Protein: ENSMUSP00000101551
Gene: ENSMUSG00000000215

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	69	2.81e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105932
AA Change: T97S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101552
Gene: ENSMUSG00000000215
AA Change: T97S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	109	2.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105933
AA Change: T97S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101553
Gene: ENSMUSG00000000215
AA Change: T97S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	109	2.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105934
AA Change: T97S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000101554
Gene: ENSMUSG00000000215
AA Change: T97S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	109	2.21e-35	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125933

SMART Domains

Protein: ENSMUSP00000115147
Gene: ENSMUSG00000000215

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	70	6.3e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162317
AA Change: T85S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000124643
Gene: ENSMUSG00000000215
AA Change: T85S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	28	97	1.32e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210288
AA Change: T97S

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

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

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: This gene encodes insulin, a peptide hormone that plays a vital role in the regulation of carbohydrate and lipid metabolism. The encoded precursor protein undergoes proteolytic cleavage to produce a disulfide-linked heterodimeric functional protein that is stored in secretory granules. An increase in blood glucose levels, among others, induces the release of insulin from the secretory granules. Mice deficient in the functional hormone encoded by this gene develop diabetes mellitus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for spontaneous or knock-out alleles exhibit increased mortality, abnormal growth, abnormal glucose homeostasis, impaired pancreatic function, and phenotypes associated with type 2 diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,300 (GRCm39)	F58S	probably benign	Het
Abca2	T	A	2: 25,331,540 (GRCm39)	M1309K	probably benign	Het
Ascc1	A	T	10: 59,840,641 (GRCm39)	M1L	probably damaging	Het
Ccdc85b	A	T	19: 5,506,880 (GRCm39)	S182R	probably damaging	Het
Cnpy3	G	T	17: 47,048,161 (GRCm39)	Q185K	possibly damaging	Het
Cyp3a41a	A	G	5: 145,654,827 (GRCm39)	Y25H	probably damaging	Het
Dscam	A	T	16: 96,592,101 (GRCm39)	F725I	probably benign	Het
Duox1	T	C	2: 122,167,782 (GRCm39)	F1022L	probably benign	Het
Ednrb	A	G	14: 104,080,725 (GRCm39)	L63P	probably benign	Het
Egr4	C	T	6: 85,489,181 (GRCm39)	G293D	probably damaging	Het
Fv1	T	A	4: 147,953,727 (GRCm39)	F98I	possibly damaging	Het
Gfm2	C	T	13: 97,286,908 (GRCm39)	S169F	probably damaging	Het
Hexim2	C	G	11: 103,029,838 (GRCm39)	P297A	probably benign	Het
Hnrnpab	G	A	11: 51,492,293 (GRCm39)	T314I	unknown	Het
Ift88	T	C	14: 57,685,111 (GRCm39)	F309S	possibly damaging	Het
Itga2	T	C	13: 114,990,427 (GRCm39)	I905V	probably benign	Het
Itgb8	T	C	12: 119,127,094 (GRCm39)	Y720C	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kcna6	T	A	6: 126,716,682 (GRCm39)	D69V	probably damaging	Het
Kcp	A	G	6: 29,496,846 (GRCm39)	C588R	probably damaging	Het
Lrrc17	A	T	5: 21,766,042 (GRCm39)	T175S	probably benign	Het
Morc2b	A	T	17: 33,357,397 (GRCm39)	M125K	probably benign	Het
Ms4a4b	A	C	19: 11,427,352 (GRCm39)	M24L	probably benign	Het
Myh13	A	C	11: 67,249,155 (GRCm39)	S1292R	probably benign	Het
Nat10	T	C	2: 103,556,052 (GRCm39)	D923G	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nipbl	T	C	15: 8,326,333 (GRCm39)	I2425M	probably benign	Het
Oasl1	G	T	5: 115,075,169 (GRCm39)	A410S	probably damaging	Het
Or52d1	T	A	7: 103,756,201 (GRCm39)	C238*	probably null	Het
Or5p80	C	T	7: 108,229,583 (GRCm39)	S128F	probably benign	Het
Or9g4b	T	A	2: 85,616,002 (GRCm39)	I49N	probably damaging	Het
Padi6	T	C	4: 140,458,286 (GRCm39)	K507E	probably benign	Het
Pdcl2	T	C	5: 76,465,743 (GRCm39)	N159S	probably benign	Het
Pla2g4a	T	C	1: 149,736,809 (GRCm39)	K445E	probably benign	Het
Plxnb2	A	G	15: 89,045,474 (GRCm39)	S1028P	probably benign	Het
Polb	T	C	8: 23,143,107 (GRCm39)	S30G	probably benign	Het
Pramel23	T	A	4: 143,425,809 (GRCm39)	I45F	probably damaging	Het
Slc17a6	A	T	7: 51,318,914 (GRCm39)	I519F	probably benign	Het
Tacc2	C	T	7: 130,345,328 (GRCm39)	H2582Y	probably damaging	Het
Tmem176a	A	T	6: 48,821,116 (GRCm39)		probably null	Het
Tnr	A	T	1: 159,715,880 (GRCm39)	T881S	probably benign	Het
Trp63	A	T	16: 25,686,969 (GRCm39)	R394S	probably damaging	Het
Tsga8	A	G	X: 82,530,704 (GRCm39)	L135P	unknown	Het
Ttn	T	C	2: 76,645,042 (GRCm39)	T12938A	probably damaging	Het
Ugt2b35	A	T	5: 87,149,061 (GRCm39)	D104V	possibly damaging	Het
Usp28	T	C	9: 48,947,183 (GRCm39)	S835P	probably damaging	Het
Vmn2r44	A	T	7: 8,371,219 (GRCm39)	V609E	probably damaging	Het
Zfp180	A	G	7: 23,804,084 (GRCm39)	S168G	probably benign	Het

Other mutations in Ins2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01902:Ins2	APN	7	142,233,179 (GRCm39)	missense	probably damaging	1.00
R5405:Ins2	UTSW	7	142,233,134 (GRCm39)	missense	probably damaging	1.00
R6125:Ins2	UTSW	7	142,233,430 (GRCm39)	splice site	probably null
R7814:Ins2	UTSW	7	142,233,323 (GRCm39)	intron	probably benign
R8064:Ins2	UTSW	7	142,232,553 (GRCm39)	missense	probably benign	0.04
R9151:Ins2	UTSW	7	142,232,505 (GRCm39)	missense	possibly damaging	0.89
R9760:Ins2	UTSW	7	142,233,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTATTGTGGCTAGGCAGATAG -3'
(R):5'- GTAGGAGGTTGCTCAGCTAC -3'

Sequencing Primer
(F):5'- GCAGATAGATAGATTAAGCTGTGGC -3'
(R):5'- GAGGTTGCTCAGCTACTCCTGAC -3'

Posted On

2019-11-26