Mutagenetix > Incidental Mutation

Incidental Mutation 'R5007:Igf2bp2'

390246

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

042598-MU

Accession Numbers

Essential gene?

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

Stock #

R5007 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21877759-21982049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21898246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 233 (I233T)

Ref Sequence

ENSEMBL: ENSMUSP00000111037 (fasta)

Gene Model

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

AlphaFold

Q5SF07

Predicted Effect

probably damaging
Transcript: ENSMUST00000100052
AA Change: I301T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: I301T

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 damaging
Transcript: ENSMUST00000115379
AA Change: I233T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: I233T

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

0.8941

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.6%

Validation Efficiency

99% (89/90)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,278,192 (GRCm39)	T242R	probably damaging	Het
Abca8b	T	C	11: 109,827,590 (GRCm39)	T1473A	probably damaging	Het
Adam22	T	C	5: 8,217,393 (GRCm39)	Y134C	probably damaging	Het
Alg9	T	A	9: 50,699,524 (GRCm39)	M183K	probably damaging	Het
Ambra1	T	C	2: 91,602,655 (GRCm39)	I213T	possibly damaging	Het
Ankrd55	T	A	13: 112,504,466 (GRCm39)	V376D	probably benign	Het
Ano4	A	C	10: 88,948,807 (GRCm39)	V166G	probably benign	Het
Aox3	T	A	1: 58,202,583 (GRCm39)	C730S	probably benign	Het
Apc	T	A	18: 34,446,016 (GRCm39)	Y953N	probably damaging	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atg2b	T	C	12: 105,610,135 (GRCm39)		probably null	Het
B3gnt9	A	G	8: 105,981,122 (GRCm39)	Y89H	probably damaging	Het
Cd38	T	G	5: 44,063,506 (GRCm39)	F200V	probably damaging	Het
Cep170	G	T	1: 176,597,380 (GRCm39)	R388S	probably benign	Het
Col22a1	A	T	15: 71,816,271 (GRCm39)	D614E	probably damaging	Het
Crybg3	C	A	16: 59,378,463 (GRCm39)		probably benign	Het
Ctdp1	A	T	18: 80,463,695 (GRCm39)	S114T	probably damaging	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dmtf1	T	C	5: 9,172,439 (GRCm39)		probably benign	Het
Dnhd1	G	A	7: 105,362,283 (GRCm39)	V3715M	probably damaging	Het
Dok1	A	T	6: 83,009,297 (GRCm39)	L185H	probably damaging	Het
Dpep1	T	C	8: 123,926,117 (GRCm39)	V152A	probably damaging	Het
Eif2ak1	G	T	5: 143,810,698 (GRCm39)	R136L	probably benign	Het
Eml5	A	T	12: 98,797,224 (GRCm39)	S1063T	probably damaging	Het
Fam171b	T	A	2: 83,685,853 (GRCm39)	L179*	probably null	Het
Flot1	G	T	17: 36,135,267 (GRCm39)		probably benign	Het
Fmn2	A	T	1: 174,571,866 (GRCm39)	H1491L	probably damaging	Het
Frem1	C	T	4: 82,859,049 (GRCm39)		probably benign	Het
Gdf2	A	G	14: 33,666,863 (GRCm39)	D195G	probably benign	Het
Golga4	T	G	9: 118,387,368 (GRCm39)	C1497G	probably benign	Het
Gpaa1	T	A	15: 76,215,868 (GRCm39)	C33*	probably null	Het
Hectd1	A	T	12: 51,849,443 (GRCm39)	C254S	possibly damaging	Het
Hspa1b	C	T	17: 35,177,086 (GRCm39)	A300T	probably benign	Het
Iqce	C	A	5: 140,661,003 (GRCm39)	A491S	possibly damaging	Het
Irak3	A	G	10: 119,982,334 (GRCm39)		probably null	Het
Kcnip1	T	A	11: 33,592,495 (GRCm39)	H124L	probably benign	Het
Klhdc10	G	A	6: 30,450,640 (GRCm39)	R393Q	probably benign	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Map2	T	C	1: 66,452,448 (GRCm39)	V288A	possibly damaging	Het
Mdp1	C	T	14: 55,896,683 (GRCm39)	R126Q	probably damaging	Het
Meltf	A	G	16: 31,706,380 (GRCm39)	D288G	possibly damaging	Het
Mgat4e	T	A	1: 134,468,890 (GRCm39)	I385F	probably benign	Het
Mical3	A	C	6: 121,015,030 (GRCm39)	V211G	probably damaging	Het
Mlh1	A	G	9: 111,100,478 (GRCm39)	*39R	probably null	Het
Mre11a	A	G	9: 14,721,116 (GRCm39)	D345G	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Nat1	T	G	8: 67,944,077 (GRCm39)	L154R	probably benign	Het
Nlrp4a	A	G	7: 26,161,905 (GRCm39)	D851G	probably damaging	Het
Npas4	A	C	19: 5,039,684 (GRCm39)	V54G	possibly damaging	Het
Or13n4	T	C	7: 106,423,364 (GRCm39)	Y123C	probably damaging	Het
Pcbp4	G	A	9: 106,339,292 (GRCm39)	G100R	probably damaging	Het
Pcdh17	A	G	14: 84,770,737 (GRCm39)	T1072A	probably benign	Het
Pcdh18	T	C	3: 49,708,906 (GRCm39)	N803S	probably benign	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Ppm1l	T	A	3: 69,224,931 (GRCm39)	L11Q	probably damaging	Het
Pram1	T	A	17: 33,864,411 (GRCm39)	V658E	probably damaging	Het
Prr12	C	T	7: 44,699,225 (GRCm39)		probably benign	Het
Prxl2b	A	G	4: 154,981,531 (GRCm39)		probably null	Het
Ptprq	A	G	10: 107,444,137 (GRCm39)	V1489A	probably benign	Het
Ryr1	T	A	7: 28,768,540 (GRCm39)	I2817F	probably damaging	Het
Sall2	A	G	14: 52,551,950 (GRCm39)	L413P	probably damaging	Het
Slc7a9	T	A	7: 35,153,554 (GRCm39)	M185K	probably benign	Het
Stag2	C	T	X: 41,355,130 (GRCm39)	H1149Y	possibly damaging	Het
Timm10b	T	A	7: 105,290,298 (GRCm39)	Y64N	probably damaging	Het
Tmem30c	T	C	16: 57,086,868 (GRCm39)	T312A	probably benign	Het
Tmem9b	G	T	7: 109,344,550 (GRCm39)	C17*	probably null	Het
Vmn2r68	C	A	7: 84,881,622 (GRCm39)	R486L	probably benign	Het
Xkr9	T	A	1: 13,771,387 (GRCm39)	I301N	probably damaging	Het
Xpo7	T	C	14: 70,925,704 (GRCm39)	Q446R	probably damaging	Het
Ythdf3	T	C	3: 16,259,362 (GRCm39)	V503A	possibly damaging	Het
Zfp280b	T	A	10: 75,875,048 (GRCm39)	V309D	probably damaging	Het
Zfp53	T	A	17: 21,729,772 (GRCm39)	C602S	probably benign	Het
Zfp616	A	T	11: 73,974,643 (GRCm39)	N395I	possibly damaging	Het
Zfp644	T	C	5: 106,783,867 (GRCm39)	I862M	probably benign	Het
Zfp715	T	C	7: 42,949,019 (GRCm39)	T314A	possibly damaging	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
R1169:Igf2bp2	UTSW	16	21,897,480 (GRCm39)	nonsense	probably null
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
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

PCR Primer
(F):5'- AGAATTTCATGGTGCCGGGG -3'
(R):5'- ATTCATAAAGAGTGAGCTTCGTGAGTC -3'

Sequencing Primer
(F):5'- CATGGTGCCGGGGATGGAG -3'
(R):5'- AGTCTTGGGCGCTAAGTCG -3'

Posted On

2016-06-06