Mutagenetix > Incidental Mutation

Incidental Mutation 'R5247:Igf2'

401194

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

042818-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.436) question?

Stock #

R5247 (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 142207668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 143 (A143D)

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

possibly damaging
Transcript: ENSMUST00000000033
AA Change: A143D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000033
Gene: ENSMUSG00000048583
AA Change: A143D

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

possibly damaging
Transcript: ENSMUST00000097936
AA Change: A143D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095549
Gene: ENSMUSG00000048583
AA Change: A143D

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

possibly damaging
Transcript: ENSMUST00000105935
AA Change: A143D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101555
Gene: ENSMUSG00000048583
AA Change: A143D

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

possibly damaging
Transcript: ENSMUST00000105936
AA Change: A143D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101556
Gene: ENSMUSG00000048583
AA Change: A143D

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

possibly damaging
Transcript: ENSMUST00000121128
AA Change: A154D

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114076
Gene: ENSMUSG00000048583
AA Change: A154D

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	A	T	1: 72,719,343 (GRCm39)	V502E	probably benign	Het
Atad2	A	T	15: 57,967,874 (GRCm39)	L585*	probably null	Het
Atp6v0a2	T	C	5: 124,790,241 (GRCm39)	S475P	probably damaging	Het
Cacng1	T	C	11: 107,607,105 (GRCm39)	H38R	probably benign	Het
Ccdc168	A	C	1: 44,096,166 (GRCm39)	L1644*	probably null	Het
Celsr2	A	G	3: 108,304,946 (GRCm39)	V2168A	probably benign	Het
Cnot4	C	T	6: 35,028,351 (GRCm39)	V422I	probably damaging	Het
Col1a1	T	C	11: 94,838,013 (GRCm39)		probably null	Het
Cspg4b	A	T	13: 113,455,993 (GRCm39)	I680F	probably damaging	Het
Ctcfl	A	T	2: 172,955,402 (GRCm39)	C287S	probably damaging	Het
Eps8l1	T	A	7: 4,473,401 (GRCm39)	D133E	probably damaging	Het
Fam161b	A	G	12: 84,404,524 (GRCm39)	L52P	probably damaging	Het
Fam98c	T	C	7: 28,855,126 (GRCm39)	E99G	possibly damaging	Het
Fmn2	A	T	1: 174,648,794 (GRCm39)	I1574L	probably benign	Het
Gabrb3	T	A	7: 57,240,339 (GRCm39)	L8Q	possibly damaging	Het
Hck	A	T	2: 152,976,615 (GRCm39)	K250*	probably null	Het
Herc1	A	G	9: 66,341,833 (GRCm39)	E1874G	probably benign	Het
Isg20l2	A	G	3: 87,838,920 (GRCm39)	N44D	possibly damaging	Het
Kdm7a	T	A	6: 39,121,390 (GRCm39)	Q855L	probably benign	Het
Kif15	T	C	9: 122,815,507 (GRCm39)	S434P	possibly damaging	Het
Klrc3	A	T	6: 129,618,425 (GRCm39)	N119K	probably damaging	Het
L3mbtl3	T	C	10: 26,203,706 (GRCm39)	M375V	unknown	Het
Lpcat4	A	G	2: 112,072,860 (GRCm39)	H173R	possibly damaging	Het
Mapk13	A	T	17: 28,996,725 (GRCm39)	Q264L	probably benign	Het
Mrps18c	C	G	5: 100,946,659 (GRCm39)	C8W	probably damaging	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Nlrp4b	T	A	7: 10,448,145 (GRCm39)	I116N	probably benign	Het
Or10h1	A	G	17: 33,418,504 (GRCm39)	T161A	probably benign	Het
Or5b124	T	A	19: 13,610,778 (GRCm39)	F101Y	probably damaging	Het
Prdm1	A	T	10: 44,316,098 (GRCm39)	H679Q	probably damaging	Het
Prickle2	T	A	6: 92,352,950 (GRCm39)	S839C	probably damaging	Het
Rps19	T	A	7: 24,584,878 (GRCm39)	S36T	probably damaging	Het
Serpinb1a	T	A	13: 33,034,389 (GRCm39)	M1L	probably damaging	Het
Slc16a7	A	T	10: 125,067,183 (GRCm39)	M152K	probably damaging	Het
Srpk3	C	T	X: 72,818,555 (GRCm39)	R82*	probably null	Het
Stx18	A	T	5: 38,263,977 (GRCm39)	Y141F	probably damaging	Het
Tgfb2	A	T	1: 186,382,111 (GRCm39)		probably null	Het
Tle7	T	C	8: 110,837,209 (GRCm39)	F299S	probably damaging	Het
Tmem151b	A	T	17: 45,856,571 (GRCm39)	Y290N	probably damaging	Het
Ttn	G	A	2: 76,558,766 (GRCm39)	T29705M	probably damaging	Het
Tymp	GC	GCC	15: 89,258,567 (GRCm39)		probably null	Het
Usp19	T	G	9: 108,373,264 (GRCm39)		probably null	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
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'- CAGAGAGATCTTAGTGTGGGAC -3'
(R):5'- TATGCGACACCTAGATGGGAG -3'

Sequencing Primer
(F):5'- ATGGAACTGTCCCTGCTCAAGAG -3'
(R):5'- GCTCAGGCTAACATGATACCCTG -3'

Posted On

2016-07-06