Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Igfbp2'

189469

Institutional Source

Beutler Lab

Gene Symbol

Igfbp2

Ensembl Gene

ENSMUSG00000039323

Gene Name

insulin-like growth factor binding protein 2

Synonyms

IGFBP-2, Igfbp-2

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72863662-72891633 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 72864125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000047328] [ENSMUST00000120564]

AlphaFold

P47877

Predicted Effect

probably null
Transcript: ENSMUST00000047328

SMART Domains

Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IB	38	117	2.08e-35	SMART
TY	238	290	1.17e-19	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000047328

SMART Domains

Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
IB	38	117	2.08e-35	SMART
TY	238	290	1.17e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120564

SMART Domains

Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323

Domain	Start	End	E-Value	Type
TY	91	143	1.17e-19	SMART

Meta Mutation Damage Score

0.9504

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: The protein encoded by this gene is one of several similar proteins that bind insulin-like growth factors I and II (Igf-I and Igf-II). The encoded protein can be secreted into the bloodstream, where it binds Igf-I and Igf-II with high affinity, or it can remain intracellular, interacting with many different ligands. Two transcript variants, one encoding a secreted isoform and the other encoding a nonsecreted isoform, have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutation of this gene results in reduced spleen, heart and kidney size and increased liver weight. Homozygotes for another allele exhibit a normal phenotype. [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
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tada2a	T	C	11: 83,975,585 (GRCm39)		probably null	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	possibly damaging	Het

Other mutations in Igfbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00495:Igfbp2	APN	1	72,888,287 (GRCm39)	missense	probably benign	0.02
IGL02435:Igfbp2	APN	1	72,891,245 (GRCm39)	missense	probably damaging	1.00
R1138:Igfbp2	UTSW	1	72,888,257 (GRCm39)	missense	probably damaging	0.99
R2045:Igfbp2	UTSW	1	72,891,310 (GRCm39)	missense	probably benign	0.13
R5704:Igfbp2	UTSW	1	72,891,303 (GRCm39)	missense	probably benign	0.02
R6128:Igfbp2	UTSW	1	72,863,958 (GRCm39)	missense	probably damaging	1.00
R6395:Igfbp2	UTSW	1	72,864,078 (GRCm39)	missense	probably damaging	1.00
R6836:Igfbp2	UTSW	1	72,888,817 (GRCm39)	missense	probably damaging	1.00
R7002:Igfbp2	UTSW	1	72,888,804 (GRCm39)	missense	probably damaging	0.99
R7511:Igfbp2	UTSW	1	72,891,164 (GRCm39)	missense	probably damaging	1.00
R7586:Igfbp2	UTSW	1	72,888,307 (GRCm39)	missense	probably benign
R8323:Igfbp2	UTSW	1	72,888,780 (GRCm39)	missense	probably damaging	1.00
R9080:Igfbp2	UTSW	1	72,891,157 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCAACATGCTGCCGAGATTG -3'
(R):5'- CGCTAAGTCCCGTTAAGGAAGACC -3'

Sequencing Primer
(F):5'- tcctgccgtcgttgctc -3'
(R):5'- CCGTTAAGGAAGACCCTGGTG -3'

Posted On

2014-05-14