Mutagenetix > Incidental Mutation

Incidental Mutation 'R5825:Igf2'

450131

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

044053-MU

Accession Numbers

Essential gene?

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

Stock #

R5825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142204503-142220553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142207592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 168 (H168Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101556 (fasta)

Gene Model

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

AlphaFold

P09535

Predicted Effect

probably damaging
Transcript: ENSMUST00000000033
AA Change: H168Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000000033
Gene: ENSMUSG00000048583
AA Change: H168Q

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 damaging
Transcript: ENSMUST00000097936
AA Change: H168Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000095549
Gene: ENSMUSG00000048583
AA Change: H168Q

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 damaging
Transcript: ENSMUST00000105935
AA Change: H168Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101555
Gene: ENSMUSG00000048583
AA Change: H168Q

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 damaging
Transcript: ENSMUST00000105936
AA Change: H168Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101556
Gene: ENSMUSG00000048583
AA Change: H168Q

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: H179Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114076
Gene: ENSMUSG00000048583
AA Change: H179Q

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

noncoding transcript
Transcript: ENSMUST00000163148

Predicted Effect

probably benign
Transcript: ENSMUST00000145896

SMART Domains

Protein: ENSMUSP00000122653
Gene: ENSMUSG00000048583

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

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

Coding Region Coverage

1x: 99.8%
3x: 99.1%
10x: 95.3%
20x: 83.6%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,791,976 (GRCm39)	Y217*	probably null	Het
Abca2	A	T	2: 25,326,748 (GRCm39)	I567F	probably benign	Het
Acss2	T	A	2: 155,391,098 (GRCm39)		probably null	Het
Atxn7l2	C	A	3: 108,112,127 (GRCm39)	A320S	probably damaging	Het
Bfsp1	C	T	2: 143,669,379 (GRCm39)	G400D	probably benign	Het
Ces5a	G	T	8: 94,252,295 (GRCm39)	A199D	probably damaging	Het
Cfhr4	T	A	1: 139,702,336 (GRCm39)		probably null	Het
Chd2	A	T	7: 73,134,350 (GRCm39)		probably null	Het
Crebbp	A	G	16: 3,905,606 (GRCm39)	V1705A	probably damaging	Het
Cyp2j8	T	A	4: 96,395,451 (GRCm39)	Q58L	probably benign	Het
Dlec1	T	A	9: 118,972,036 (GRCm39)	I1379N	probably damaging	Het
Dnah9	T	C	11: 66,017,427 (GRCm39)	H593R	probably benign	Het
Ep300	T	A	15: 81,495,673 (GRCm39)	C412S	probably benign	Het
Fam110a	A	G	2: 151,811,961 (GRCm39)	S270P	probably damaging	Het
Gcc2	A	G	10: 58,130,643 (GRCm39)	T1412A	probably damaging	Het
Helz2	T	C	2: 180,874,449 (GRCm39)	E2015G	probably benign	Het
Hormad1	T	C	3: 95,469,870 (GRCm39)	V39A	probably damaging	Het
Il18rap	A	G	1: 40,570,726 (GRCm39)	T223A	probably benign	Het
Itpr2	T	C	6: 146,045,647 (GRCm39)	E2573G	probably damaging	Het
Jcad	T	A	18: 4,674,896 (GRCm39)	V886E	probably benign	Het
Klra1	T	C	6: 130,357,592 (GRCm39)	R12G	probably damaging	Het
Lamb1	A	G	12: 31,368,613 (GRCm39)	I1248V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Mapk7	C	T	11: 61,381,207 (GRCm39)	R465Q	possibly damaging	Het
Mogs	T	C	6: 83,095,193 (GRCm39)	V670A	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Ninl	A	T	2: 150,782,644 (GRCm39)	I1182N	probably damaging	Het
Nup160	A	G	2: 90,510,114 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,101,683 (GRCm39)	R451G	probably benign	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Or5h22	T	C	16: 58,895,024 (GRCm39)	I140V	probably benign	Het
Osbp	A	G	19: 11,948,085 (GRCm39)	T131A	probably damaging	Het
Pcdhga12	A	C	18: 37,901,556 (GRCm39)	D796A	possibly damaging	Het
Pcdhgb8	G	A	18: 37,895,289 (GRCm39)	V120I	probably benign	Het
Pdgfb	A	T	15: 79,881,869 (GRCm39)	V213E	probably benign	Het
Phldb2	T	C	16: 45,583,460 (GRCm39)	M1013V	probably benign	Het
Pnma8a	A	G	7: 16,695,020 (GRCm39)	S292G	probably benign	Het
Prrt4	A	G	6: 29,177,182 (GRCm39)	S196P	probably benign	Het
Rap1gds1	T	C	3: 138,661,136 (GRCm39)	M463V	possibly damaging	Het
Tmprss11g	A	T	5: 86,646,392 (GRCm39)	S58R	probably damaging	Het
Traf3	C	A	12: 111,221,795 (GRCm39)	Q319K	probably benign	Het
Trappc8	C	T	18: 21,006,977 (GRCm39)	V194M	probably damaging	Het
Tyw1	A	G	5: 130,296,929 (GRCm39)	K182R	probably damaging	Het
Usp48	A	G	4: 137,350,689 (GRCm39)	T585A	probably benign	Het
Xkr6	G	T	14: 64,056,481 (GRCm39)	V387L	probably benign	Het
Yod1	T	C	1: 130,646,743 (GRCm39)	W207R	probably damaging	Het
Zdhhc8	T	C	16: 18,046,538 (GRCm39)	S63G	probably null	Het
Zfp827	A	G	8: 79,905,645 (GRCm39)	E874G	probably damaging	Het
Zfy1	T	A	Y: 726,531 (GRCm39)	K411N	possibly damaging	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
R4024:Igf2	UTSW	7	142,208,044 (GRCm39)	missense	probably benign	0.23
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
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'- AACTGCTGAGATCCCCTTGC -3'
(R):5'- GCAAGTTCTTCCAATATGACACCTG -3'

Sequencing Primer
(F):5'- TGAGATCCCCTTGCCCGATG -3'
(R):5'- GTTCTTCCAATATGACACCTGGAGAC -3'

Posted On

2016-12-20