Mutagenetix > Incidental Mutation

Incidental Mutation 'R8323:Igfbp2'

643897

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

067724-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.271) question?

Stock #

R8323 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72863662-72891633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72888780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 224 (P224S)

Ref Sequence

ENSEMBL: ENSMUSP00000046610 (fasta)

Gene Model

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

AlphaFold

P47877

Predicted Effect

probably damaging
Transcript: ENSMUST00000047328
AA Change: P224S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: P224S

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 damaging
Transcript: ENSMUST00000120564
AA Change: P77S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323
AA Change: P77S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,649,351 (GRCm39)	F6S	probably benign	Het
Braf	T	C	6: 39,620,058 (GRCm39)	T507A	possibly damaging	Het
Catsperb	A	C	12: 101,375,658 (GRCm39)	H24P	probably benign	Het
Ccdc57	G	T	11: 120,788,750 (GRCm39)	Q366K	possibly damaging	Het
Cep295	G	T	9: 15,249,529 (GRCm39)	T462K	possibly damaging	Het
Cep295	T	A	9: 15,264,357 (GRCm39)	R96S	probably damaging	Het
Cfap206	C	T	4: 34,719,647 (GRCm39)	E256K	probably benign	Het
Cfap251	A	G	5: 123,435,588 (GRCm39)	N1016S	probably benign	Het
Cldn13	A	G	5: 134,943,828 (GRCm39)	V119A	probably benign	Het
Csmd1	G	T	8: 17,266,751 (GRCm39)	C58*	probably null	Het
Csmd3	T	C	15: 47,561,547 (GRCm39)	Y1343C		Het
Dcbld2	T	A	16: 58,283,473 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,532,109 (GRCm39)	I2299V	probably benign	Het
Dsp	C	T	13: 38,356,806 (GRCm39)	H229Y	possibly damaging	Het
Fam193b	A	T	13: 55,702,223 (GRCm39)	C51*	probably null	Het
Fbxw10	G	A	11: 62,767,506 (GRCm39)	V781I	probably benign	Het
Fdps	G	T	3: 89,002,696 (GRCm39)	P151T	possibly damaging	Het
Galk2	C	T	2: 125,708,298 (GRCm39)	H16Y	probably benign	Het
Gm1110	A	G	9: 26,813,719 (GRCm39)		probably null	Het
Gm3727	C	T	14: 7,261,693 (GRCm38)	V204I	probably benign	Het
Gtf2h3	A	G	5: 124,720,534 (GRCm39)	I13V	probably benign	Het
H2-T24	T	A	17: 36,328,431 (GRCm39)		probably null	Het
Heatr5a	C	T	12: 52,002,289 (GRCm39)	V216M	probably benign	Het
Hspg2	C	G	4: 137,246,290 (GRCm39)	P1023A	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Kif11	T	A	19: 37,372,692 (GRCm39)	F27I	possibly damaging	Het
Lcor	T	C	19: 41,572,036 (GRCm39)	S264P	probably benign	Het
Lrrc28	G	T	7: 67,245,455 (GRCm39)	T137K	unknown	Het
Lyg1	T	A	1: 37,989,018 (GRCm39)	R67S	probably damaging	Het
Ms4a10	G	A	19: 10,940,363 (GRCm39)	Q255*	probably null	Het
Myo1h	A	G	5: 114,480,200 (GRCm39)	R512G		Het
Nmnat3	T	C	9: 98,292,276 (GRCm39)	Y174H	probably damaging	Het
Nrap	T	C	19: 56,378,255 (GRCm39)	I19V	probably benign	Het
Nsf	C	A	11: 103,819,665 (GRCm39)	V35L	probably benign	Het
Or1e30	A	T	11: 73,677,766 (GRCm39)	M1L	probably damaging	Het
Or2w6	T	A	13: 21,843,302 (GRCm39)	M64L	possibly damaging	Het
Osbpl9	A	G	4: 108,965,119 (GRCm39)	S116P	probably benign	Het
Pcdhb15	A	C	18: 37,608,715 (GRCm39)	E649A	probably benign	Het
Pcdhb8	T	A	18: 37,488,476 (GRCm39)	D51E	probably benign	Het
Plcl1	T	A	1: 55,736,895 (GRCm39)	D745E	possibly damaging	Het
Prss3	A	G	6: 41,351,258 (GRCm39)	L165P	probably damaging	Het
Psme4	T	A	11: 30,793,532 (GRCm39)	I1211N	probably damaging	Het
Rb1	A	G	14: 73,503,023 (GRCm39)	V416A	probably benign	Het
Rnf111	T	A	9: 70,383,204 (GRCm39)	Q243L	probably benign	Het
Sacm1l	T	C	9: 123,377,987 (GRCm39)	V89A	probably benign	Het
Sardh	C	T	2: 27,125,576 (GRCm39)	D313N	probably damaging	Het
Scin	T	C	12: 40,129,681 (GRCm39)	I371V	probably benign	Het
Scn10a	C	A	9: 119,438,462 (GRCm39)	L1801F	possibly damaging	Het
Sele	G	A	1: 163,879,207 (GRCm39)	V281M	possibly damaging	Het
Slc17a1	C	A	13: 24,071,982 (GRCm39)	T400K	probably damaging	Het
Slc22a28	T	A	19: 8,108,788 (GRCm39)	D118V	probably damaging	Het
Slc2a10	T	A	2: 165,356,671 (GRCm39)	F110L	probably benign	Het
Slc51a	A	G	16: 32,295,197 (GRCm39)	S294P	probably damaging	Het
Snapc4	T	C	2: 26,254,711 (GRCm39)	E1271G	probably benign	Het
Spata31	C	A	13: 65,070,065 (GRCm39)	Q738K	possibly damaging	Het
Spdya	A	G	17: 71,895,587 (GRCm39)	D284G	probably benign	Het
Tdrd5	T	C	1: 156,094,832 (GRCm39)	D757G	possibly damaging	Het
Tmem104	T	C	11: 115,134,199 (GRCm39)	F245S	probably damaging	Het
Tmem170	A	T	8: 112,603,153 (GRCm39)	S39T	probably benign	Het
Trim24	G	T	6: 37,892,233 (GRCm39)		probably null	Het
Uap1	A	G	1: 169,978,635 (GRCm39)	V302A	probably damaging	Het
Vmn2r96	A	T	17: 18,803,023 (GRCm39)	Y311F	probably damaging	Het
Wdhd1	A	T	14: 47,512,252 (GRCm39)	D46E	possibly damaging	Het
Zdbf2	G	A	1: 63,342,073 (GRCm39)	V151I	possibly damaging	Het
Zfp747l1	A	T	7: 126,983,621 (GRCm39)	C494S	possibly damaging	Het
Zfp943	A	G	17: 22,211,763 (GRCm39)	Q283R	possibly damaging	Het
Zfp944	A	T	17: 22,558,235 (GRCm39)	D337E	probably benign	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
R1688:Igfbp2	UTSW	1	72,864,125 (GRCm39)	critical splice donor site	probably null
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
R9080:Igfbp2	UTSW	1	72,891,157 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACACTGATACTGCCCTACTAGC -3'
(R):5'- ACTGCATCCAAGCTCAGCTC -3'

Sequencing Primer
(F):5'- GATACTGCCCTACTAGCCGCTTG -3'
(R):5'- TCTTAGCTCCCAGGGACTATACAAG -3'

Posted On

2020-09-02