Mutagenetix > Incidental Mutation

Incidental Mutation 'R9151:Ins2'

695035

Institutional Source

Beutler Lab

Gene Symbol

Ins2

Ensembl Gene

ENSMUSG00000000215

Gene Name

insulin II

Synonyms

Mody, Mody4, InsII, Ins-2

MMRRC Submission

068973-MU

Accession Numbers

Essential gene?

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

Stock #

R9151 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142232393-142233463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142232505 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 93 (D93G)

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

possibly damaging
Transcript: ENSMUST00000000220
AA Change: D93G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000220
Gene: ENSMUSG00000000215
AA Change: D93G

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

possibly damaging
Transcript: ENSMUST00000105932
AA Change: D93G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101552
Gene: ENSMUSG00000000215
AA Change: D93G

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: ENSMUST00000105933
AA Change: D93G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101553
Gene: ENSMUSG00000000215
AA Change: D93G

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: ENSMUST00000105934
AA Change: D93G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101554
Gene: ENSMUSG00000000215
AA Change: D93G

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

possibly damaging
Transcript: ENSMUST00000162317
AA Change: D81G

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124643
Gene: ENSMUSG00000000215
AA Change: D81G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210288
AA Change: D93G

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,188,908 (GRCm39)	F850L	probably benign	Het
Adam1a	A	T	5: 121,657,411 (GRCm39)	D627E	probably damaging	Het
Add2	C	A	6: 86,081,459 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,491,785 (GRCm39)	N72S	probably benign	Het
Aqp6	A	G	15: 99,501,655 (GRCm39)	T238A	possibly damaging	Het
Arhgef38	G	T	3: 132,912,706 (GRCm39)	T111K		Het
Atg10	A	G	13: 91,189,032 (GRCm39)	Y93H	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cald1	A	G	6: 34,732,682 (GRCm39)	N286S	unknown	Het
Caps2	A	T	10: 112,031,829 (GRCm39)	I322F	possibly damaging	Het
Cbx3	T	A	6: 51,455,533 (GRCm39)	S95T	probably benign	Het
Ccdc24	T	C	4: 117,727,102 (GRCm39)	T83A	unknown	Het
Cntn1	T	C	15: 92,140,864 (GRCm39)	Y197H	probably damaging	Het
Cpd	A	G	11: 76,675,275 (GRCm39)	I1282T	possibly damaging	Het
Crat	A	T	2: 30,295,052 (GRCm39)	S454R	probably damaging	Het
D2hgdh	G	A	1: 93,754,338 (GRCm39)	V126I	probably benign	Het
Dcst1	A	G	3: 89,271,558 (GRCm39)	V75A	probably benign	Het
Dnm1l	T	C	16: 16,176,668 (GRCm39)	D21G	probably benign	Het
Evc2	A	G	5: 37,504,823 (GRCm39)	N74D	probably benign	Het
Gm19965	A	T	1: 116,748,942 (GRCm39)	M208L		Het
Gprc6a	T	G	10: 51,497,182 (GRCm39)	T454P	possibly damaging	Het
Gprin1	C	T	13: 54,886,778 (GRCm39)	V499M	probably benign	Het
Gtf3c5	A	G	2: 28,463,577 (GRCm39)	Y194H	probably damaging	Het
Hcn4	T	C	9: 58,767,880 (GRCm39)	V1147A	possibly damaging	Het
Ighv1-82	A	C	12: 115,916,342 (GRCm39)	V56G	probably damaging	Het
Itgb8	A	G	12: 119,130,535 (GRCm39)	S658P	probably benign	Het
Kcnmb1	T	C	11: 33,920,263 (GRCm39)	F159L	probably benign	Het
Klf1	C	T	8: 85,629,954 (GRCm39)	L260F	probably benign	Het
Larp4	T	A	15: 99,888,205 (GRCm39)	S140T	possibly damaging	Het
Maneal	C	A	4: 124,755,542 (GRCm39)	R140L	probably benign	Het
Mfsd11	T	A	11: 116,750,323 (GRCm39)	V114D		Het
Muc4	A	G	16: 32,752,617 (GRCm38)	T832A	probably benign	Het
Myh11	T	G	16: 14,050,439 (GRCm39)	I509L		Het
Myh13	A	T	11: 67,252,149 (GRCm39)	E1419V	probably damaging	Het
Myh7b	A	G	2: 155,474,439 (GRCm39)	E1718G	probably damaging	Het
Myo9b	T	A	8: 71,807,871 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,367,939 (GRCm39)	L656Q	probably benign	Het
Nova1	A	G	12: 46,746,813 (GRCm39)	I488T	probably damaging	Het
Or51r1	A	T	7: 102,228,500 (GRCm39)	E266V	probably damaging	Het
Or5b113	A	T	19: 13,342,222 (GRCm39)	T77S	possibly damaging	Het
Or5b21	A	G	19: 12,839,976 (GRCm39)	Y279C	probably damaging	Het
Or5d18	A	G	2: 87,864,697 (GRCm39)	V262A	probably damaging	Het
Or6c35	A	G	10: 129,169,623 (GRCm39)	N291S	probably damaging	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Pax6	C	T	2: 105,523,097 (GRCm39)	S325L	probably benign	Het
Phldb1	T	C	9: 44,619,740 (GRCm39)	D142G	probably null	Het
Phldb3	T	G	7: 24,324,048 (GRCm39)		probably benign	Het
Pikfyve	G	T	1: 65,235,898 (GRCm39)	R190L	probably damaging	Het
Plagl2	A	T	2: 153,074,540 (GRCm39)	H120Q	probably damaging	Het
Pou2f1	A	T	1: 165,703,640 (GRCm39)		probably benign	Het
Pramel58	A	G	5: 94,831,836 (GRCm39)	Y281C	possibly damaging	Het
Prpf6	A	G	2: 181,250,001 (GRCm39)	R54G	possibly damaging	Het
Prss33	T	C	17: 24,052,966 (GRCm39)	E236G	probably benign	Het
Ptpru	T	C	4: 131,522,278 (GRCm39)	Y709C	probably benign	Het
Rcc1l	A	G	5: 134,197,057 (GRCm39)	V212A	probably benign	Het
Rtl1	G	A	12: 109,560,007 (GRCm39)	L611F		Het
Scp2	A	G	4: 107,931,603 (GRCm39)	I344T	possibly damaging	Het
Serpinb2	A	T	1: 107,449,890 (GRCm39)	D101V	possibly damaging	Het
Slc13a1	T	C	6: 24,097,662 (GRCm39)	T422A	probably damaging	Het
Slc38a10	G	T	11: 120,007,762 (GRCm39)	T406K	probably benign	Het
Smad4	T	C	18: 73,782,806 (GRCm39)	E376G	probably damaging	Het
Smarcb1	T	C	10: 75,750,916 (GRCm39)	E115G	probably benign	Het
Spata31h1	A	T	10: 82,120,928 (GRCm39)	H4027Q	probably damaging	Het
Taf5	G	A	19: 47,063,370 (GRCm39)	V307I	probably damaging	Het
Tnc	T	C	4: 63,938,686 (GRCm39)	N51S	possibly damaging	Het
Trp53inp2	G	T	2: 155,228,558 (GRCm39)	R171L	possibly damaging	Het
Ttc13	A	T	8: 125,402,021 (GRCm39)	D579E	probably benign	Het
Ttn	A	T	2: 76,775,896 (GRCm39)	N1761K	unknown	Het
Ttpa	C	T	4: 20,008,401 (GRCm39)		probably benign	Het
Ugt3a1	G	A	15: 9,362,051 (GRCm39)	V276I	probably benign	Het
Usp4	T	A	9: 108,244,011 (GRCm39)	H296Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn2r81	A	G	10: 79,103,905 (GRCm39)	D176G		Het
Wdr1	A	T	5: 38,687,468 (GRCm39)		probably benign	Het
Zfp488	T	G	14: 33,692,695 (GRCm39)	Q156P	possibly damaging	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
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
R9760:Ins2	UTSW	7	142,233,185 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2022-01-20