Mutagenetix > Incidental Mutation

Incidental Mutation 'R4024:Igf2'

313398

Institutional Source

Beutler Lab

Gene Symbol

Igf2

Ensembl Gene

ENSMUSG00000048583

Gene Name

insulin-like growth factor 2

Synonyms

Igf-2, Igf-II, Mpr, M6pr, Peg2

MMRRC Submission

041612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.458) question?

Stock #

R4024 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

142204503-142220553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142208044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 111 (V111A)

Ref Sequence

ENSEMBL: ENSMUSP00000114076 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000033] [ENSMUST00000097936] [ENSMUST00000105935] [ENSMUST00000105936] [ENSMUST00000121128] [ENSMUST00000145896] [ENSMUST00000178921] [ENSMUST00000228850]

AlphaFold

P09535

Predicted Effect

probably benign
Transcript: ENSMUST00000000033
AA Change: V100A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000000033
Gene: ENSMUSG00000048583
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	30	84	2.09e-22	SMART
Pfam:IGF2_C	112	166	3.2e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000093631

Predicted Effect

probably benign
Transcript: ENSMUST00000097936
AA Change: V100A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095549
Gene: ENSMUSG00000048583
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	30	84	2.09e-22	SMART
Pfam:IGF2_C	112	166	3.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105935
AA Change: V100A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101555
Gene: ENSMUSG00000048583
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	30	84	2.09e-22	SMART
Pfam:IGF2_C	112	166	3.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105936
AA Change: V100A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000101556
Gene: ENSMUSG00000048583
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	30	84	2.09e-22	SMART
Pfam:IGF2_C	112	166	3.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121128
AA Change: V111A

PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114076
Gene: ENSMUSG00000048583
AA Change: V111A

Domain	Start	End	E-Value	Type
signal peptide	1	35	N/A	INTRINSIC
IlGF	41	95	2.09e-22	SMART
Pfam:IGF2_C	123	177	6.9e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143666

Predicted Effect

probably benign
Transcript: ENSMUST00000145896
AA Change: V100A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000122653
Gene: ENSMUSG00000048583
AA Change: V100A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IlGF	30	84	2.09e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163148

Predicted Effect

probably benign
Transcript: ENSMUST00000178921

SMART Domains

Protein: ENSMUSP00000136786
Gene: ENSMUSG00000048583

Domain	Start	End	E-Value	Type
IlGF	67	121	2.09e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000228850

Meta Mutation Damage Score

0.0573

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: This gene encodes a member of the insulin-like growth factor (IGF) family of proteins that promote growth and development during fetal and postnatal life. It is an imprinted gene that is expressed only from the paternal allele. The encoded protein undergoes proteolytic processing to generate a mature peptide. The transgenic overexpression of this gene in mice results in prenatal overgrowth, polyhydramnios, fetal and neonatal lethality, disproportionate organ overgrowth including tongue enlargement, and skeletal abnormalities. Mice lacking the encoded protein exhibit growth deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mutations that are paternally transmitted result in growth deficiency. Heterozygous mice inheriting a mutant allele from their mother appear to be phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,215,251 (GRCm39)	Y842H	probably damaging	Het
Adamts9	A	G	6: 92,849,765 (GRCm39)		probably benign	Het
Adgrg7	A	T	16: 56,550,661 (GRCm39)	Y684N	probably damaging	Het
Aoc1	A	T	6: 48,885,203 (GRCm39)	N646I	probably damaging	Het
Armc2	A	G	10: 41,869,054 (GRCm39)	S37P	probably benign	Het
Bhmt2	G	A	13: 93,799,839 (GRCm39)		probably benign	Het
Bpifb1	A	T	2: 154,054,966 (GRCm39)	D286V	probably damaging	Het
Cadps	T	A	14: 12,705,539 (GRCm38)	E285D	probably damaging	Het
Cap2	C	T	13: 46,791,317 (GRCm39)		probably benign	Het
Clcn4	T	G	7: 7,293,427 (GRCm39)	Y443S	probably damaging	Het
Clcn6	T	A	4: 148,098,740 (GRCm39)	T463S	possibly damaging	Het
Cmip	A	G	8: 118,174,155 (GRCm39)	I412V	possibly damaging	Het
Cndp1	T	C	18: 84,646,938 (GRCm39)	D250G	probably damaging	Het
Colec10	A	G	15: 54,325,947 (GRCm39)	D259G	probably damaging	Het
Ctnna2	A	T	6: 77,613,827 (GRCm39)	D254E	possibly damaging	Het
Dlec1	T	C	9: 118,966,408 (GRCm39)	Y1126H	probably damaging	Het
Dzank1	T	C	2: 144,324,147 (GRCm39)	S565G	probably benign	Het
Eef2k	A	G	7: 120,457,821 (GRCm39)	Y60C	probably benign	Het
Fbxl4	T	C	4: 22,377,074 (GRCm39)	V170A	possibly damaging	Het
Foxk2	T	A	11: 121,176,439 (GRCm39)	I195N	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably benign	Het
Gpr6	G	A	10: 40,947,264 (GRCm39)	T106M	probably damaging	Het
Grk3	T	A	5: 113,062,850 (GRCm39)	N666Y	possibly damaging	Het
Hnmt	T	C	2: 23,893,777 (GRCm39)	D239G	probably benign	Het
Lrriq3	G	A	3: 154,893,939 (GRCm39)	E547K	probably benign	Het
Lrriq4	T	C	3: 30,704,422 (GRCm39)	V150A	possibly damaging	Het
Mroh8	A	G	2: 157,098,272 (GRCm39)	V292A	probably benign	Het
Myo1e	A	G	9: 70,232,157 (GRCm39)	I229V	probably benign	Het
Nisch	A	G	14: 30,898,776 (GRCm39)		probably benign	Het
Nkx2-2	T	C	2: 147,026,154 (GRCm39)	T195A	probably benign	Het
Or10aa3	C	T	1: 173,878,683 (GRCm39)	T248I	probably benign	Het
Or2t47	G	A	11: 58,442,222 (GRCm39)	T281I	possibly damaging	Het
Or5p63	A	T	7: 107,810,949 (GRCm39)	Y262*	probably null	Het
Or8w1	T	A	2: 87,465,499 (GRCm39)	L197F	probably damaging	Het
Plekhn1	A	G	4: 156,309,207 (GRCm39)	V233A	probably damaging	Het
Ppp3r1	T	C	11: 17,144,786 (GRCm39)	V133A	probably damaging	Het
Sash1	T	C	10: 8,605,681 (GRCm39)	D903G	probably benign	Het
Scn8a	A	G	15: 100,937,674 (GRCm39)	D1681G	probably damaging	Het
Slk	A	G	19: 47,610,809 (GRCm39)		probably null	Het
Tasor2	T	C	13: 3,634,554 (GRCm39)	D751G	probably damaging	Het
Tlr11	C	T	14: 50,600,303 (GRCm39)	T763I	probably benign	Het
Ttbk2	T	C	2: 120,590,736 (GRCm39)	T308A	possibly damaging	Het
Tyk2	G	A	9: 21,027,215 (GRCm39)	L552F	probably damaging	Het
Ubp1	A	G	9: 113,773,951 (GRCm39)	D50G	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ulk4	A	T	9: 120,873,915 (GRCm39)	I1172N	possibly damaging	Het
Usf3	T	A	16: 44,036,528 (GRCm39)	V336E	possibly damaging	Het
Vangl2	T	C	1: 171,835,608 (GRCm39)	S355G	probably benign	Het
Vmn1r216	A	G	13: 23,284,061 (GRCm39)	D248G	probably damaging	Het
Vmn1r34	T	A	6: 66,614,688 (GRCm39)	M17L	probably benign	Het
Vmn2r120	T	A	17: 57,843,718 (GRCm39)	D42V	possibly damaging	Het
Vmn2r6	A	T	3: 64,445,671 (GRCm39)	S685T	possibly damaging	Het
Vsig10l	T	C	7: 43,117,510 (GRCm39)	V701A	probably benign	Het
Wdfy3	A	G	5: 102,071,961 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,319,544 (GRCm39)	C258S	possibly damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	Het

Other mutations in Igf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Igf2	APN	7	142,207,785 (GRCm39)	missense	probably benign	0.09
R2012:Igf2	UTSW	7	142,208,136 (GRCm39)	missense	probably damaging	1.00
R4275:Igf2	UTSW	7	142,209,523 (GRCm39)	missense	probably benign	0.00
R5247:Igf2	UTSW	7	142,207,668 (GRCm39)	missense	possibly damaging	0.90
R5825:Igf2	UTSW	7	142,207,592 (GRCm39)	missense	probably damaging	0.97
R6185:Igf2	UTSW	7	142,212,118 (GRCm39)	missense	possibly damaging	0.95
R7286:Igf2	UTSW	7	142,209,555 (GRCm39)	missense	possibly damaging	0.71
R8501:Igf2	UTSW	7	142,207,779 (GRCm39)	missense	probably damaging	0.98
R9048:Igf2	UTSW	7	142,207,759 (GRCm39)	missense	probably benign	0.01
R9303:Igf2	UTSW	7	142,208,153 (GRCm39)	missense	probably damaging	1.00
R9304:Igf2	UTSW	7	142,208,153 (GRCm39)	missense	probably damaging	1.00
R9305:Igf2	UTSW	7	142,208,153 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTATCATGTTAGCCTGAGC -3'
(R):5'- ACTAACTGAAGTTGTCTGTCCTGTG -3'

Sequencing Primer
(F):5'- TAGGTGTCGCATATCCCCAG -3'
(R):5'- AAGTTGTCTGTCCTGTGGAACTTCC -3'

Posted On

2015-04-30