Mutagenetix > Incidental Mutation

Incidental Mutation 'R1169:Igf2bp2'

101561

Institutional Source

Beutler Lab

Gene Symbol

Igf2bp2

Ensembl Gene

ENSMUSG00000033581

Gene Name

insulin-like growth factor 2 mRNA binding protein 2

Synonyms

IMP2, C330012H03Rik, IMP-2

MMRRC Submission

039242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

R1169 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21877759-21982049 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 21897480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 244 (Y244*)

Ref Sequence

ENSEMBL: ENSMUSP00000111037 (fasta)

Gene Model

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

AlphaFold

Q5SF07

Predicted Effect

probably null
Transcript: ENSMUST00000100052
AA Change: Y312*

SMART Domains

Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: Y312*

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

probably null
Transcript: ENSMUST00000115379
AA Change: Y244*

SMART Domains

Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: Y244*

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: ENSMUST00000231926

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17a	T	C	10: 80,419,781 (GRCm39)	E275G	probably damaging	Het
Adam10	T	A	9: 70,653,574 (GRCm39)	I123N	probably damaging	Het
Adam8	A	T	7: 139,563,842 (GRCm39)	L715Q	probably benign	Het
Adcyap1r1	T	A	6: 55,471,101 (GRCm39)	F418L	probably damaging	Het
Ankrd50	A	T	3: 38,508,401 (GRCm39)	I1322K	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Atxn7	T	C	14: 14,095,468 (GRCm38)	S389P	possibly damaging	Het
C4b	A	T	17: 34,961,946 (GRCm39)	L100Q	probably benign	Het
Cacul1	G	A	19: 60,568,846 (GRCm39)	A104V	probably damaging	Het
Camsap3	T	C	8: 3,653,866 (GRCm39)	F512S	probably damaging	Het
Casp1	T	C	9: 5,299,454 (GRCm39)	V61A	possibly damaging	Het
Cfap251	GGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGA	5: 123,392,673 (GRCm39)		probably benign	Het
Chd1	T	A	17: 15,955,994 (GRCm39)	F531Y	probably damaging	Het
Clec2h	C	T	6: 128,651,758 (GRCm39)	Q156*	probably null	Het
Clip2	T	A	5: 134,521,104 (GRCm39)	E978V	probably benign	Het
Cnpy2	T	G	10: 128,159,465 (GRCm39)	L34R	probably damaging	Het
Cog6	A	T	3: 52,921,265 (GRCm39)	C114S	probably benign	Het
Col6a3	A	T	1: 90,749,736 (GRCm39)	V366E	possibly damaging	Het
Col6a5	A	G	9: 105,774,173 (GRCm39)		probably null	Het
Cplx3	T	C	9: 57,517,278 (GRCm39)	T369A	probably damaging	Het
Dmbt1	G	A	7: 130,676,254 (GRCm39)		probably null	Het
Dok1	A	G	6: 83,009,029 (GRCm39)	F218L	possibly damaging	Het
Dph7	T	A	2: 24,856,583 (GRCm39)	N178K	probably benign	Het
Enam	A	T	5: 88,651,117 (GRCm39)	E800D	probably damaging	Het
Fads3	A	T	19: 10,031,463 (GRCm39)	Q205L	possibly damaging	Het
Fbxo44	T	C	4: 148,240,433 (GRCm39)	H265R	probably benign	Het
Gli1	T	A	10: 127,174,320 (GRCm39)	S24C	probably damaging	Het
Gm4894	T	A	9: 49,185,526 (GRCm39)	C43*	probably null	Het
Gpbp1l1	C	T	4: 116,431,563 (GRCm39)	H74Y	possibly damaging	Het
H2-Eb2	T	A	17: 34,552,331 (GRCm39)	F59I	possibly damaging	Het
Hspa14	T	C	2: 3,499,161 (GRCm39)	N211S	possibly damaging	Het
Ifnlr1	T	G	4: 135,432,419 (GRCm39)	F285C	probably benign	Het
Igf1r	G	T	7: 67,814,875 (GRCm39)	V259L	probably benign	Het
Ighg2c	A	T	12: 113,249,572 (GRCm39)		probably benign	Het
Ighv8-14	A	T	12: 115,772,075 (GRCm39)		probably null	Het
Iqsec2	A	G	X: 150,927,727 (GRCm39)	S87G	probably benign	Het
Itsn2	A	G	12: 4,689,694 (GRCm39)	K589R	probably damaging	Het
Khdc1a	A	C	1: 21,420,495 (GRCm39)	E38D	possibly damaging	Het
Krt42	T	G	11: 100,154,171 (GRCm39)		probably null	Het
Lpo	T	C	11: 87,708,143 (GRCm39)	N183S	possibly damaging	Het
Lrrc3	T	A	10: 77,736,764 (GRCm39)	Y224F	probably damaging	Het
Ly6g6f	T	A	17: 35,302,240 (GRCm39)	D99V	probably damaging	Het
Lyplal1	T	C	1: 185,846,531 (GRCm39)	I42V	probably benign	Het
Mis18bp1	G	A	12: 65,190,057 (GRCm39)	Q793*	probably null	Het
Myh10	T	G	11: 68,653,667 (GRCm39)	M346R	probably damaging	Het
Nav1	G	T	1: 135,382,943 (GRCm39)	H1256Q	probably damaging	Het
Nbea	A	G	3: 55,875,744 (GRCm39)	V1642A	probably benign	Het
Or4d6	C	T	19: 12,086,853 (GRCm39)	R19H	probably benign	Het
Or8b12i	T	C	9: 20,082,354 (GRCm39)	N171S	probably benign	Het
Or8i2	A	G	2: 86,852,061 (GRCm39)	F276L	probably damaging	Het
Or8k28	A	G	2: 86,285,931 (GRCm39)	I228T	possibly damaging	Het
Orm3	G	A	4: 63,276,085 (GRCm39)	V166M	probably damaging	Het
Oxct1	T	A	15: 4,120,708 (GRCm39)	I264N	probably damaging	Het
Paox	G	A	7: 139,706,244 (GRCm39)	V55I	probably benign	Het
Pde4d	C	A	13: 110,087,462 (GRCm39)		probably null	Het
Pnliprp1	A	G	19: 58,723,383 (GRCm39)	N258S	probably damaging	Het
Potegl	A	G	2: 23,146,994 (GRCm39)	K275E	possibly damaging	Het
Prl7b1	C	A	13: 27,790,887 (GRCm39)	R66L	possibly damaging	Het
Ptpre	G	T	7: 135,269,341 (GRCm39)	C261F	probably benign	Het
Rho	C	G	6: 115,909,199 (GRCm39)	N78K	probably damaging	Het
Rnf17	A	G	14: 56,751,622 (GRCm39)	N1487D	possibly damaging	Het
Ryr3	G	A	2: 112,563,359 (GRCm39)	T2922I	probably benign	Het
Saxo2	A	C	7: 82,284,379 (GRCm39)	F160V	possibly damaging	Het
Sbf2	A	T	7: 109,909,391 (GRCm39)	Y1786N	probably benign	Het
Sdad1	A	T	5: 92,446,092 (GRCm39)	V280E	probably benign	Het
Sgsm1	T	C	5: 113,427,351 (GRCm39)	D90G	probably damaging	Het
Siglec1	A	T	2: 130,916,747 (GRCm39)	D1169E	probably damaging	Het
Sim1	T	A	10: 50,857,618 (GRCm39)	V456E	probably benign	Het
Skint8	T	A	4: 111,785,710 (GRCm39)	I52N	possibly damaging	Het
Slc27a1	C	A	8: 72,033,297 (GRCm39)	R280S	probably benign	Het
Slc9a3	G	A	13: 74,298,862 (GRCm39)	V94I	probably damaging	Het
Sorcs2	C	A	5: 36,185,269 (GRCm39)	V936L	possibly damaging	Het
Syce1	A	G	7: 140,358,120 (GRCm39)	F255S	probably benign	Het
Tmc7	G	A	7: 118,150,483 (GRCm39)	S350L	probably benign	Het
Tmem200a	T	A	10: 25,870,246 (GRCm39)	I8F	probably damaging	Het
Trip6	T	C	5: 137,310,182 (GRCm39)	H322R	probably benign	Het
Vmn2r72	A	T	7: 85,400,517 (GRCm39)	N177K	probably benign	Het

Other mutations in Igf2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01074:Igf2bp2	APN	16	21,882,454 (GRCm39)	missense	probably damaging	1.00
IGL02374:Igf2bp2	APN	16	21,900,618 (GRCm39)	missense	probably benign	0.00
IGL02752:Igf2bp2	APN	16	21,898,860 (GRCm39)	missense	probably benign	0.00
IGL02884:Igf2bp2	APN	16	21,981,635 (GRCm39)	missense	probably benign	0.00
IGL03072:Igf2bp2	APN	16	21,886,891 (GRCm39)	critical splice donor site	probably null
defender	UTSW	16	21,889,056 (GRCm39)	critical splice donor site	probably null
Ither	UTSW	16	21,883,866 (GRCm39)	missense	probably damaging	1.00
Knight	UTSW	16	21,907,849 (GRCm39)	missense	possibly damaging	0.90
Petite	UTSW	16	21,898,358 (GRCm39)	critical splice acceptor site	probably null
R0008:Igf2bp2	UTSW	16	21,894,841 (GRCm39)	missense	probably benign	0.22
R0183:Igf2bp2	UTSW	16	21,897,480 (GRCm39)	nonsense	probably null
R0390:Igf2bp2	UTSW	16	21,900,551 (GRCm39)	missense	possibly damaging	0.87
R0505:Igf2bp2	UTSW	16	21,907,849 (GRCm39)	missense	possibly damaging	0.90
R0610:Igf2bp2	UTSW	16	21,889,059 (GRCm39)	missense	probably benign	0.00
R0696:Igf2bp2	UTSW	16	21,898,875 (GRCm39)	missense	probably benign	0.19
R0966:Igf2bp2	UTSW	16	21,907,840 (GRCm39)	missense	probably damaging	1.00
R1101:Igf2bp2	UTSW	16	21,981,700 (GRCm39)	missense	probably damaging	1.00
R1159:Igf2bp2	UTSW	16	21,880,603 (GRCm39)	splice site	probably benign
R1762:Igf2bp2	UTSW	16	21,902,697 (GRCm39)	nonsense	probably null
R2168:Igf2bp2	UTSW	16	21,898,358 (GRCm39)	critical splice acceptor site	probably null
R4014:Igf2bp2	UTSW	16	21,882,426 (GRCm39)	missense	probably damaging	0.99
R4015:Igf2bp2	UTSW	16	21,882,426 (GRCm39)	missense	probably damaging	0.99
R4016:Igf2bp2	UTSW	16	21,882,426 (GRCm39)	missense	probably damaging	0.99
R4017:Igf2bp2	UTSW	16	21,882,426 (GRCm39)	missense	probably damaging	0.99
R4128:Igf2bp2	UTSW	16	21,897,371 (GRCm39)	missense	probably benign	0.00
R4986:Igf2bp2	UTSW	16	21,889,056 (GRCm39)	critical splice donor site	probably null
R5007:Igf2bp2	UTSW	16	21,898,246 (GRCm39)	missense	probably damaging	1.00
R5268:Igf2bp2	UTSW	16	21,898,241 (GRCm39)	missense	probably damaging	1.00
R5531:Igf2bp2	UTSW	16	21,907,835 (GRCm39)	missense	probably damaging	1.00
R6154:Igf2bp2	UTSW	16	21,894,843 (GRCm39)	nonsense	probably null
R6819:Igf2bp2	UTSW	16	21,879,586 (GRCm39)	missense	probably damaging	1.00
R6975:Igf2bp2	UTSW	16	21,880,611 (GRCm39)	missense	probably null	1.00
R7008:Igf2bp2	UTSW	16	21,900,582 (GRCm39)	missense	probably benign	0.16
R7311:Igf2bp2	UTSW	16	21,880,632 (GRCm39)	missense	possibly damaging	0.76
R8011:Igf2bp2	UTSW	16	21,894,849 (GRCm39)	missense	probably damaging	1.00
R8045:Igf2bp2	UTSW	16	21,902,728 (GRCm39)	missense	possibly damaging	0.82
R8442:Igf2bp2	UTSW	16	21,883,841 (GRCm39)	critical splice donor site	probably null
R8826:Igf2bp2	UTSW	16	21,883,866 (GRCm39)	missense	probably damaging	1.00
R8947:Igf2bp2	UTSW	16	21,897,473 (GRCm39)	nonsense	probably null
R9132:Igf2bp2	UTSW	16	21,900,502 (GRCm39)	missense	probably damaging	1.00
R9159:Igf2bp2	UTSW	16	21,900,502 (GRCm39)	missense	probably damaging	1.00
R9244:Igf2bp2	UTSW	16	21,886,901 (GRCm39)	missense	possibly damaging	0.92
R9368:Igf2bp2	UTSW	16	21,883,895 (GRCm39)	missense	probably damaging	0.99
R9508:Igf2bp2	UTSW	16	21,898,845 (GRCm39)	missense	probably benign	0.13
R9644:Igf2bp2	UTSW	16	21,902,735 (GRCm39)	missense	probably damaging	0.98
X0066:Igf2bp2	UTSW	16	21,980,041 (GRCm39)	missense	probably benign	0.15

Predicted Primers

Posted On

2014-01-15