Mutagenetix > Incidental Mutation

Incidental Mutation 'R9303:Igf2'

705062

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

Accession Numbers

Essential gene?

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

Stock #

R9303 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142204503-142220553 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142208153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 64 (R64C)

Ref Sequence

ENSEMBL: ENSMUSP00000000033 (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: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000033
Gene: ENSMUSG00000048583
AA Change: R64C

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: ENSMUST00000097936
AA Change: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095549
Gene: ENSMUSG00000048583
AA Change: R64C

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: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101555
Gene: ENSMUSG00000048583
AA Change: R64C

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: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101556
Gene: ENSMUSG00000048583
AA Change: R64C

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: ENSMUST00000121128
AA Change: R75C

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

SMART Domains

Protein: ENSMUSP00000114076
Gene: ENSMUSG00000048583
AA Change: R75C

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

probably damaging
Transcript: ENSMUST00000145896
AA Change: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122653
Gene: ENSMUSG00000048583
AA Change: R64C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000178921
AA Change: R101C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136786
Gene: ENSMUSG00000048583
AA Change: R101C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228850

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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
Abca16	A	G	7: 120,126,989 (GRCm39)	I1227V	probably benign	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Adamts17	T	C	7: 66,489,645 (GRCm39)	L21P	probably damaging	Het
Adcy1	T	C	11: 7,094,766 (GRCm39)	V564A	probably damaging	Het
Adgre1	A	G	17: 57,748,275 (GRCm39)	N492D	probably benign	Het
Aldh1b1	G	A	4: 45,803,811 (GRCm39)	V450M	probably damaging	Het
Arv1	T	A	8: 125,457,685 (GRCm39)	H196Q	probably damaging	Het
Atp9a	A	T	2: 168,517,163 (GRCm39)	I390N	probably benign	Het
Bltp1	A	G	3: 37,098,969 (GRCm39)	I1277V		Het
Capn10	T	C	1: 92,871,665 (GRCm39)		probably null	Het
Casq2	A	G	3: 102,052,700 (GRCm39)	D404G	unknown	Het
Cenpf	T	C	1: 189,392,271 (GRCm39)		probably null	Het
Cep295nl	G	A	11: 118,224,766 (GRCm39)	P26L	possibly damaging	Het
Chmp4c	T	G	3: 10,454,974 (GRCm39)	S214A	probably benign	Het
Chrna5	T	C	9: 54,912,156 (GRCm39)	F319L	probably benign	Het
Csmd1	G	T	8: 16,011,532 (GRCm39)	T2507K	probably benign	Het
Ctnnd2	T	C	15: 30,967,037 (GRCm39)	M996T	probably damaging	Het
Dbf4	T	C	5: 8,448,102 (GRCm39)	T328A	unknown	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Fads2b	A	T	2: 85,330,649 (GRCm39)	C219*	probably null	Het
Fat1	T	A	8: 45,463,498 (GRCm39)	W1347R	probably damaging	Het
Fbxw21	A	G	9: 108,986,727 (GRCm39)	F51L	probably benign	Het
Gng2	G	T	14: 19,925,961 (GRCm39)	H44N	probably damaging	Het
Hps5	G	A	7: 46,438,619 (GRCm39)	T38I	possibly damaging	Het
Inpp4b	C	T	8: 82,759,758 (GRCm39)	A601V	probably damaging	Het
Kdm2a	A	G	19: 4,395,606 (GRCm39)	Y342H	probably benign	Het
Kidins220	C	A	12: 25,107,110 (GRCm39)	T1430K	probably benign	Het
Knl1	T	C	2: 118,898,829 (GRCm39)	C177R	possibly damaging	Het
Krt32	T	C	11: 99,972,029 (GRCm39)	T440A	probably benign	Het
Kynu	T	A	2: 43,569,768 (GRCm39)	F350Y	probably damaging	Het
Lama4	T	C	10: 38,973,137 (GRCm39)	L1568P	probably damaging	Het
Lrp1b	A	T	2: 41,618,574 (GRCm39)	S281T		Het
Or2y3	A	T	17: 38,393,629 (GRCm39)	V80D	probably damaging	Het
Or5h23	A	G	16: 58,906,802 (GRCm39)	S15P	probably benign	Het
Or8c19-ps1	C	T	9: 38,220,463 (GRCm39)	T124M	probably benign	Het
Orc3	G	A	4: 34,607,181 (GRCm39)	R50*	probably null	Het
Osbpl6	T	A	2: 76,378,716 (GRCm39)	D124E	probably damaging	Het
Parp4	TG	T	14: 56,832,790 (GRCm39)		probably null	Het
Parp4	T	C	14: 56,852,224 (GRCm39)		probably null	Het
Pcdhb18	A	C	18: 37,625,004 (GRCm39)	H778P	probably benign	Het
Polg	A	T	7: 79,105,860 (GRCm39)	Y710N	probably benign	Het
Ppp2r2b	C	A	18: 42,779,025 (GRCm39)	R370L	possibly damaging	Het
Raet1e	C	T	10: 22,057,872 (GRCm39)	T213I	possibly damaging	Het
Reln	T	A	5: 22,193,705 (GRCm39)	S1418C	possibly damaging	Het
Reln	T	C	5: 22,285,689 (GRCm39)	S427G	probably benign	Het
Rhobtb2	G	A	14: 70,025,376 (GRCm39)	H633Y	probably damaging	Het
Serpina3i	T	C	12: 104,234,881 (GRCm39)	V404A	probably damaging	Het
Serpinb8	T	C	1: 107,526,769 (GRCm39)		probably null	Het
Sorl1	G	T	9: 41,900,739 (GRCm39)	Q1658K	probably damaging	Het
Tmem26	G	A	10: 68,559,816 (GRCm39)	W29*	probably null	Het
Togaram2	A	G	17: 71,996,408 (GRCm39)	E137G	probably damaging	Het
Ttc39b	A	G	4: 83,151,023 (GRCm39)	L524S	probably damaging	Het
Usp43	T	C	11: 67,767,345 (GRCm39)	N675S	probably damaging	Het
Vmn2r104	A	G	17: 20,268,439 (GRCm39)	L10P	possibly damaging	Het
Zbtb1	G	A	12: 76,432,773 (GRCm39)	R253Q	probably damaging	Het
Zfp354b	T	A	11: 50,820,256 (GRCm39)	R36S	probably 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
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
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'- TCGTGGTACCCCAAATCAAG -3'
(R):5'- TTCTACCACATCCCTGCAGG -3'

Sequencing Primer
(F):5'- CCCAAATCAAGAAGTGAGTGGTCTC -3'
(R):5'- TGACCTAGTATCCGGCCAG -3'

Posted On

2022-03-25