Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01902:Ins2'

179568

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ins2

Ensembl Gene

ENSMUSG00000000215

Gene Name

insulin II

Synonyms

Mody, Mody4, InsII, Ins-2

Accession Numbers

Essential gene?

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

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

142232393-142233463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142233179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 31 (C31Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147425 (fasta)

Gene Model

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

AlphaFold

P01326

Predicted Effect

probably damaging
Transcript: ENSMUST00000000220
AA Change: C31Y

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

SMART Domains

Protein: ENSMUSP00000000220
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105930
AA Change: C31Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101550
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105931
AA Change: C31Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000101551
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105932
AA Change: C31Y

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

SMART Domains

Protein: ENSMUSP00000101552
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105933
AA Change: C31Y

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

SMART Domains

Protein: ENSMUSP00000101553
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000105934
AA Change: C31Y

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

SMART Domains

Protein: ENSMUSP00000101554
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125933
AA Change: C31Y

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115147
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210288
AA Change: C31Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162317
AA Change: C31Y

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

SMART Domains

Protein: ENSMUSP00000124643
Gene: ENSMUSG00000000215
AA Change: C31Y

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,267 (GRCm39)	S228P	probably damaging	Het
Adamtsl2	A	T	2: 26,977,264 (GRCm39)	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,789,933 (GRCm39)	L284P	probably damaging	Het
Bnc2	A	G	4: 84,309,181 (GRCm39)	I138T	probably damaging	Het
Cep350	A	G	1: 155,737,731 (GRCm39)	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,806,895 (GRCm39)	P2442T	unknown	Het
Cpne6	A	T	14: 55,750,207 (GRCm39)	T113S	possibly damaging	Het
Crnkl1	T	C	2: 145,766,632 (GRCm39)		probably null	Het
Cyp2c67	T	A	19: 39,637,470 (GRCm39)	D2V	probably damaging	Het
Frzb	T	A	2: 80,243,711 (GRCm39)	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Lipf	A	T	19: 33,948,179 (GRCm39)	N234Y	probably benign	Het
Mtf1	T	C	4: 124,698,720 (GRCm39)	F73L	probably damaging	Het
Nrxn1	A	G	17: 91,395,919 (GRCm39)		probably null	Het
Pcnx1	A	G	12: 82,025,868 (GRCm39)	T1538A	probably damaging	Het
Polr1a	T	A	6: 71,940,732 (GRCm39)	V47D	probably damaging	Het
Prune2	A	G	19: 17,096,002 (GRCm39)	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,156,934 (GRCm39)	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,648,181 (GRCm39)	H676L	probably benign	Het
Rbm20	A	T	19: 53,829,422 (GRCm39)	N607Y	probably damaging	Het
Smc5	G	A	19: 23,237,132 (GRCm39)	T233I	possibly damaging	Het
Snx13	A	T	12: 35,183,306 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,916,776 (GRCm39)	C510S	probably benign	Het
Tab2	A	T	10: 7,795,756 (GRCm39)	M242K	probably benign	Het
Tep1	A	G	14: 51,103,548 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Ins2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7766:Ins2	UTSW	7	142,232,494 (GRCm39)	missense	probably benign	0.36
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

Posted On

2014-05-07