Mutagenetix > Incidental Mutations

Incidental Mutation 'R0390:Igf2bp2'

31649

Institutional Source

Beutler Lab

Gene Symbol

Igf2bp2

Ensembl Gene

ENSMUSG00000033581

Gene Name

insulin-like growth factor 2 mRNA binding protein 2

Synonyms

IMP-2, C330012H03Rik

MMRRC Submission

038596-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.195) question?

Stock #

R0390 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22059009-22163299 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 22081801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 129 (F129L)

Ref Sequence

ENSEMBL: ENSMUSP00000111037 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100052] [ENSMUST00000115379]

AlphaFold

Q5SF07

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100052
AA Change: F197L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: F197L

Domain	Start	End	E-Value	Type
RRM	4	72	8.2e-11	SMART
RRM	83	153	4.07e-6	SMART
KH	185	256	1.28e-14	SMART
KH	266	339	1.97e-15	SMART
low complexity region	375	391	N/A	INTRINSIC
low complexity region	404	415	N/A	INTRINSIC
KH	419	490	1.1e-13	SMART
KH	501	573	2.48e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115379
AA Change: F129L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: F129L

Domain	Start	End	E-Value	Type
RRM	15	85	4.07e-6	SMART
KH	117	188	1.28e-14	SMART
KH	198	271	1.97e-15	SMART
low complexity region	307	323	N/A	INTRINSIC
low complexity region	336	347	N/A	INTRINSIC
KH	351	422	1.1e-13	SMART
KH	433	505	2.48e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134188

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231926

Meta Mutation Damage Score

0.0702

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

98% (110/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	T	A	18: 59,075,688	V136E	probably damaging	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
Ap2m1	T	C	16: 20,541,099	M183T	probably damaging	Het
Apob	A	T	12: 7,988,678	I364F	probably damaging	Het
Arl6	A	T	16: 59,622,421		probably benign	Het
Cand2	A	G	6: 115,774,653	M15V	possibly damaging	Het
Cbl	A	G	9: 44,201,005	F131S	probably damaging	Het
Ccdc151	T	A	9: 21,991,708	H442L	probably benign	Het
Ccdc74a	A	G	16: 17,650,476	S321G	probably benign	Het
Cdc14b	T	C	13: 64,210,192		probably benign	Het
Cep152	T	C	2: 125,576,869		probably benign	Het
Cep290	A	G	10: 100,508,758	E479G	probably benign	Het
Chrm2	T	G	6: 36,524,111	I301R	probably benign	Het
Clec2e	A	G	6: 129,093,468	W197R	probably damaging	Het
Cnot10	G	T	9: 114,629,150	S96*	probably null	Het
Col19a1	A	G	1: 24,289,655		probably benign	Het
Csmd2	T	C	4: 128,133,673		probably benign	Het
Cthrc1	A	T	15: 39,086,764	*172L	probably null	Het
Cul9	A	T	17: 46,528,589	I821N	probably benign	Het
Daam1	G	C	12: 71,975,304		probably benign	Het
Dhx58	A	T	11: 100,699,264	I398N	probably damaging	Het
Dip2b	T	A	15: 100,193,913	H844Q	probably damaging	Het
Dmac2	A	G	7: 25,621,029	D50G	probably damaging	Het
Dmxl1	C	A	18: 49,879,362	Q1529K	probably benign	Het
Dtna	C	T	18: 23,597,501	P315L	probably damaging	Het
Ep300	T	C	15: 81,640,116	S1382P	unknown	Het
Fat2	A	T	11: 55,310,777	N490K	probably damaging	Het
Flg2	T	A	3: 93,200,355		probably benign	Het
Gm13084	T	A	4: 143,811,699	D234V	probably benign	Het
Gpatch1	T	C	7: 35,281,381		probably benign	Het
Grin2a	C	A	16: 9,579,585	K879N	possibly damaging	Het
Hacd3	A	C	9: 65,001,022	I164S	possibly damaging	Het
Hinfp	A	C	9: 44,298,948	C197G	probably damaging	Het
Hsd17b12	T	C	2: 94,114,990		probably benign	Het
Hsd3b1	A	T	3: 98,853,039	L212Q	probably damaging	Het
Ifrd1	C	T	12: 40,214,094		probably null	Het
Kirrel3	T	A	9: 35,020,163	I409N	probably damaging	Het
Klhdc10	T	C	6: 30,447,412	I204T	probably damaging	Het
Kpna6	A	T	4: 129,657,804	S65R	possibly damaging	Het
Lama3	A	T	18: 12,407,563	D308V	probably benign	Het
Larp4b	T	A	13: 9,158,107		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lyzl1	A	T	18: 4,169,175	T11S	probably benign	Het
Man1c1	A	G	4: 134,578,315	L366P	probably damaging	Het
Mef2a	A	G	7: 67,251,724	M100T	probably damaging	Het
Mettl13	G	A	1: 162,538,889	H474Y	possibly damaging	Het
Mmp3	A	G	9: 7,451,320	D352G	probably benign	Het
Mns1	T	C	9: 72,452,804	I412T	probably damaging	Het
Mon2	T	C	10: 123,007,021	D1501G	probably null	Het
Mylk	G	T	16: 34,875,620	G242W	probably damaging	Het
Nav1	T	C	1: 135,449,966	D1715G	possibly damaging	Het
Nckap1l	T	C	15: 103,453,883	S2P	probably damaging	Het
Nek3	A	T	8: 22,128,729		probably benign	Het
Nfrkb	A	G	9: 31,388,897		probably benign	Het
Nlrp4d	T	C	7: 10,388,778	D53G	probably benign	Het
Nol8	T	C	13: 49,662,152	S561P	probably damaging	Het
Nuf2	A	C	1: 169,525,297		probably benign	Het
Ofcc1	T	A	13: 40,015,313	D866V	possibly damaging	Het
Olfr195	A	G	16: 59,149,299	I150V	probably benign	Het
Optn	A	G	2: 5,046,195	L125P	probably benign	Het
Otoa	T	A	7: 121,131,341	F588Y	probably benign	Het
Pappa	T	A	4: 65,351,613		probably null	Het
Pde5a	T	G	3: 122,835,583	C635W	probably damaging	Het
Pdgfb	A	T	15: 80,003,419		probably null	Het
Pih1d2	T	A	9: 50,621,046	C135S	probably damaging	Het
Plcg1	G	T	2: 160,752,366	C361F	probably damaging	Het
Ppp4r4	T	C	12: 103,601,360		probably benign	Het
Prdm10	G	A	9: 31,349,268		probably null	Het
Prex2	T	A	1: 11,089,706		probably null	Het
Prss56	T	G	1: 87,184,730		probably null	Het
Prtg	A	G	9: 72,844,958	K209E	probably benign	Het
Ptprc	G	A	1: 138,122,575	T36I	possibly damaging	Het
Rasgrp4	A	G	7: 29,145,860	Y302C	probably damaging	Het
Rb1cc1	T	A	1: 6,248,634	M759K	probably damaging	Het
Rbm15b	T	A	9: 106,885,998	M324L	probably benign	Het
Rcbtb2	T	C	14: 73,178,547	V500A	probably damaging	Het
Rgs6	A	G	12: 83,133,677	K434R	probably damaging	Het
Rims1	C	T	1: 22,596,526	A125T	possibly damaging	Het
Robo3	A	G	9: 37,422,177	V746A	probably benign	Het
Rtl1	C	T	12: 109,591,386	E1340K	unknown	Het
Sacs	G	A	14: 61,205,640	D1712N	possibly damaging	Het
Samd4b	G	A	7: 28,403,977	P19S	probably benign	Het
Samhd1	T	C	2: 157,114,231	Y347C	probably damaging	Het
Sema6d	T	A	2: 124,658,490	I393N	probably damaging	Het
Sigmar1	C	T	4: 41,741,243	A4T	probably benign	Het
Skint9	C	A	4: 112,389,179	L245F	probably benign	Het
Slc35f5	T	C	1: 125,585,095	L372P	probably damaging	Het
Smc1b	A	T	15: 85,066,277	I1182N	probably damaging	Het
Smyd3	A	G	1: 178,957,573		probably benign	Het
Sptlc1	T	C	13: 53,337,612	D417G	probably benign	Het
Sv2c	T	C	13: 96,088,708	N31S	probably benign	Het
Tjp1	T	C	7: 65,314,990	D811G	probably damaging	Het
Top2b	A	G	14: 16,418,442	T1221A	probably benign	Het
Tph2	T	C	10: 115,174,109	D182G	probably damaging	Het
Traf6	C	T	2: 101,688,588	Q141*	probably null	Het
Ttn	T	C	2: 76,756,931	D21574G	probably damaging	Het
Uba2	T	A	7: 34,151,021	N367I	probably benign	Het
Ube2b	T	C	11: 51,988,602		probably benign	Het
Ubr5	G	T	15: 38,030,672	L426I	probably benign	Het
Ugt2a2	T	A	5: 87,464,148	H301L	probably benign	Het
Upf2	T	A	2: 6,018,894		probably benign	Het
Utrn	T	C	10: 12,710,060	D991G	probably benign	Het
Vmn2r25	T	C	6: 123,823,181	D734G	probably damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vwf	T	A	6: 125,626,361	Y891*	probably null	Het
Wwox	C	T	8: 114,706,278	T228I	probably benign	Het
Zer1	C	T	2: 30,108,213		probably benign	Het
Zfp180	C	T	7: 24,104,707	H184Y	possibly damaging	Het
Zfp68	A	T	5: 138,607,225	Y279N	probably benign	Het

Other mutations in Igf2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Igf2bp2	APN	16	22063704	missense	probably damaging	1.00
IGL02374:Igf2bp2	APN	16	22081868	missense	probably benign	0.00
IGL02752:Igf2bp2	APN	16	22080110	missense	probably benign	0.00
IGL02884:Igf2bp2	APN	16	22162885	missense	probably benign	0.00
IGL03072:Igf2bp2	APN	16	22068141	critical splice donor site	probably null
defender	UTSW	16	22070306	critical splice donor site	probably null
Petite	UTSW	16	22079608	critical splice acceptor site	probably null
R0505_igf2bp2_524	UTSW	16	22089099	missense	possibly damaging	0.90
R0008:Igf2bp2	UTSW	16	22076091	missense	probably benign	0.22
R0183:Igf2bp2	UTSW	16	22078730	nonsense	probably null
R0505:Igf2bp2	UTSW	16	22089099	missense	possibly damaging	0.90
R0610:Igf2bp2	UTSW	16	22070309	missense	probably benign	0.00
R0696:Igf2bp2	UTSW	16	22080125	missense	probably benign	0.19
R0966:Igf2bp2	UTSW	16	22089090	missense	probably damaging	1.00
R1101:Igf2bp2	UTSW	16	22162950	missense	probably damaging	1.00
R1159:Igf2bp2	UTSW	16	22061853	splice site	probably benign
R1169:Igf2bp2	UTSW	16	22078730	nonsense	probably null
R1762:Igf2bp2	UTSW	16	22083947	nonsense	probably null
R2168:Igf2bp2	UTSW	16	22079608	critical splice acceptor site	probably null
R4014:Igf2bp2	UTSW	16	22063676	missense	probably damaging	0.99
R4015:Igf2bp2	UTSW	16	22063676	missense	probably damaging	0.99
R4016:Igf2bp2	UTSW	16	22063676	missense	probably damaging	0.99
R4017:Igf2bp2	UTSW	16	22063676	missense	probably damaging	0.99
R4128:Igf2bp2	UTSW	16	22078621	missense	probably benign	0.00
R4986:Igf2bp2	UTSW	16	22070306	critical splice donor site	probably null
R5007:Igf2bp2	UTSW	16	22079496	missense	probably damaging	1.00
R5268:Igf2bp2	UTSW	16	22079491	missense	probably damaging	1.00
R5531:Igf2bp2	UTSW	16	22089085	missense	probably damaging	1.00
R6154:Igf2bp2	UTSW	16	22076093	nonsense	probably null
R6819:Igf2bp2	UTSW	16	22060836	missense	probably damaging	1.00
R6975:Igf2bp2	UTSW	16	22061861	missense	probably null	1.00
R7008:Igf2bp2	UTSW	16	22081832	missense	probably benign	0.16
R7311:Igf2bp2	UTSW	16	22061882	missense	possibly damaging	0.76
R8011:Igf2bp2	UTSW	16	22076099	missense	probably damaging	1.00
R8045:Igf2bp2	UTSW	16	22083978	missense	possibly damaging	0.82
R8442:Igf2bp2	UTSW	16	22065091	critical splice donor site	probably null
R8826:Igf2bp2	UTSW	16	22065116	missense	probably damaging	1.00
R8947:Igf2bp2	UTSW	16	22078723	nonsense	probably null
R9132:Igf2bp2	UTSW	16	22081752	missense	probably damaging	1.00
R9159:Igf2bp2	UTSW	16	22081752	missense	probably damaging	1.00
R9244:Igf2bp2	UTSW	16	22068151	missense	possibly damaging	0.92
R9368:Igf2bp2	UTSW	16	22065145	missense	probably damaging	0.99
X0066:Igf2bp2	UTSW	16	22161291	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- AGTCTGTTGTTAGCCCACCGAAAG -3'
(R):5'- ACCCTGCTGTGTTTCAGAGCTATTG -3'

Sequencing Primer
(F):5'- AAGCAGCGGAGTCCCAC -3'
(R):5'- TATTGAGAAGCTCAGTGGGCATC -3'

Posted On

2013-04-24