Mutagenetix > Incidental Mutation

Incidental Mutation 'R9760:Ins2'

732951

Institutional Source

Beutler Lab

Gene Symbol

Ins2

Ensembl Gene

ENSMUSG00000000215

Gene Name

insulin II

Synonyms

Mody, Mody4, InsII, Ins-2

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R9760 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142232393-142233463 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142233185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 29 (H29L)

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 damaging
Transcript: ENSMUST00000000220
AA Change: H29L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000220
Gene: ENSMUSG00000000215
AA Change: H29L

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: ENSMUST00000105930
AA Change: H29L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101550
Gene: ENSMUSG00000000215
AA Change: H29L

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: H29L

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

SMART Domains

Protein: ENSMUSP00000101551
Gene: ENSMUSG00000000215
AA Change: H29L

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: H29L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101552
Gene: ENSMUSG00000000215
AA Change: H29L

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: H29L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101553
Gene: ENSMUSG00000000215
AA Change: H29L

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: H29L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101554
Gene: ENSMUSG00000000215
AA Change: H29L

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: H29L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000115147
Gene: ENSMUSG00000000215
AA Change: H29L

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: ENSMUST00000162317
AA Change: H29L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000124643
Gene: ENSMUSG00000000215
AA Change: H29L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000210288
AA Change: H29L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.1%
20x: 97.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	C	16: 8,399,794 (GRCm39)		probably null	Het
Adamts4	G	A	1: 171,086,334 (GRCm39)	D709N	probably benign	Het
Arhgef12	G	T	9: 42,903,318 (GRCm39)	D745E	probably damaging	Het
Cep250	A	G	2: 155,818,473 (GRCm39)	K883E	probably benign	Het
Cfdp1	T	C	8: 112,495,415 (GRCm39)	I268V	probably benign	Het
Cgnl1	G	T	9: 71,552,853 (GRCm39)	S1037*	probably null	Het
Clca3b	T	C	3: 144,552,610 (GRCm39)	N142S	probably benign	Het
Col6a6	A	T	9: 105,659,253 (GRCm39)	I564N	probably damaging	Het
Coq4	G	T	2: 29,678,482 (GRCm39)	R36L	probably benign	Het
Dact3	G	A	7: 16,620,131 (GRCm39)	S542N	unknown	Het
Dcaf1	A	G	9: 106,751,466 (GRCm39)	D1480G	unknown	Het
Dcdc2a	C	T	13: 25,389,443 (GRCm39)	T457I	probably damaging	Het
Ddi2	A	G	4: 141,411,196 (GRCm39)	V572A	probably damaging	Het
Ddx54	C	T	5: 120,761,672 (GRCm39)	R483C	probably benign	Het
Dennd5b	G	A	6: 148,969,997 (GRCm39)	S152F	probably benign	Het
Efcab14	C	T	4: 115,616,072 (GRCm39)	H252Y	probably benign	Het
Efhb	A	T	17: 53,770,298 (GRCm39)	F4I	probably damaging	Het
Esrrg	A	G	1: 187,775,569 (GRCm39)	D32G	probably benign	Het
Far2	C	A	6: 148,060,448 (GRCm39)	A267E	probably damaging	Het
Fhip2b	A	C	14: 70,827,621 (GRCm39)	V158G	possibly damaging	Het
Flnb	T	C	14: 7,929,846 (GRCm38)	I1992T	probably damaging	Het
Fmnl2	A	G	2: 52,944,527 (GRCm39)	S169G		Het
Galnt10	G	A	11: 57,656,514 (GRCm39)	V233I	probably benign	Het
Gbf1	C	A	19: 46,244,137 (GRCm39)	N210K	probably benign	Het
Gbp3	T	G	3: 142,276,283 (GRCm39)	S460A	probably benign	Het
Gm12185	T	A	11: 48,806,168 (GRCm39)	H341L	probably benign	Het
Gm5592	A	T	7: 40,939,234 (GRCm39)	I839F	possibly damaging	Het
Gnptab	A	G	10: 88,267,310 (GRCm39)	D467G	probably damaging	Het
Grin3a	A	T	4: 49,714,213 (GRCm39)	M844K	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,020 (GRCm39)	D368G	probably benign	Het
Herc2	G	C	7: 55,813,659 (GRCm39)		probably null	Het
Hycc1	T	C	5: 24,184,572 (GRCm39)	Q302R	possibly damaging	Het
Ipo13	T	A	4: 117,762,778 (GRCm39)	Y275F	probably benign	Het
Kcnj15	T	A	16: 95,096,483 (GRCm39)	M35K	probably benign	Het
Kif21b	G	A	1: 136,076,421 (GRCm39)	V321M	probably damaging	Het
Lcmt1	T	A	7: 123,029,375 (GRCm39)	Y332*	probably null	Het
Malt1	A	G	18: 65,581,283 (GRCm39)	Q237R	probably benign	Het
Micall1	G	A	15: 79,005,032 (GRCm39)	C168Y	unknown	Het
Muc5ac	A	G	7: 141,360,985 (GRCm39)	K1432R	probably benign	Het
Nacad	A	G	11: 6,551,662 (GRCm39)	S510P	probably benign	Het
Nub1	T	C	5: 24,897,965 (GRCm39)	L117P	possibly damaging	Het
Or10al3	T	C	17: 38,012,434 (GRCm39)	L291P	probably damaging	Het
Or5af1	A	G	11: 58,722,852 (GRCm39)	R291G	probably damaging	Het
Or8g24	A	T	9: 38,989,271 (GRCm39)	F257I	possibly damaging	Het
Pkdrej	T	C	15: 85,705,268 (GRCm39)	K223E	probably benign	Het
Prkdc	T	A	16: 15,657,044 (GRCm39)	Y4046*	probably null	Het
Prpf8	A	G	11: 75,394,257 (GRCm39)	N1767D	probably benign	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
R3hdm2	G	T	10: 127,280,182 (GRCm39)	M18I	unknown	Het
Rab35	C	A	5: 115,778,224 (GRCm39)	D63E	probably damaging	Het
Ribc2	T	A	15: 85,027,568 (GRCm39)	Y350N	probably benign	Het
Sec63	A	G	10: 42,704,944 (GRCm39)	I733V	probably benign	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Slc38a4	T	C	15: 96,896,332 (GRCm39)	K512E	probably damaging	Het
Stk35	G	A	2: 129,642,605 (GRCm39)	V49I	probably benign	Het
Tango6	A	G	8: 107,576,911 (GRCm39)	E1055G	probably damaging	Het
Tas2r140	A	G	6: 40,469,036 (GRCm39)	I289V	probably benign	Het
Thoc2l	T	C	5: 104,667,101 (GRCm39)	V541A	probably benign	Het
Tll2	C	T	19: 41,119,084 (GRCm39)	V215M	probably damaging	Het
Tmem30a	A	T	9: 79,687,874 (GRCm39)	N98K	probably benign	Het
Trav9n-4	C	A	14: 53,532,290 (GRCm39)	A48E	probably benign	Het
Vinac1	A	T	2: 128,880,499 (GRCm39)	S476T		Het
Vmn1r192	A	G	13: 22,372,010 (GRCm39)	F70S	probably damaging	Het
Wdr89	A	G	12: 75,680,026 (GRCm39)	V76A	probably damaging	Het
Zfp229	A	T	17: 21,965,275 (GRCm39)	T502S	probably 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
R9151:Ins2	UTSW	7	142,232,505 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTAGGACACAATTTACAATGTCCC -3'
(R):5'- AGGTACTCTTCTCAGTGGGC -3'

Sequencing Primer
(F):5'- GGACACAATTTACAATGTCCCAAGTG -3'
(R):5'- CAGCTAAGACCTCAGGGACTTG -3'

Posted On

2022-11-14