Mutagenetix > Incidental Mutation

Incidental Mutation 'R0505:Igf2bp2'

47524

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

038700-MU

Accession Numbers

Essential gene?

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

Stock #

R0505 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

21877759-21982049 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21907849 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 16 (I16T)

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: I84T

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097629
Gene: ENSMUSG00000033581
AA Change: I84T

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: I16T

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000111037
Gene: ENSMUSG00000033581
AA Change: I16T

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: ENSMUST00000151087

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232504

Meta Mutation Damage Score

0.4023

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

98% (119/121)

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: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,241,058 (GRCm39)	Y974H	probably benign	Het
Abca2	G	T	2: 25,324,906 (GRCm39)	G300V	probably benign	Het
Abi1	A	G	2: 22,852,516 (GRCm39)		probably benign	Het
Actr10	T	A	12: 71,006,738 (GRCm39)	Y332N	probably damaging	Het
Adam25	G	T	8: 41,208,261 (GRCm39)	C509F	probably damaging	Het
Adck1	A	T	12: 88,338,461 (GRCm39)		probably benign	Het
Adgra3	A	G	5: 50,166,676 (GRCm39)		probably null	Het
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Akr1c21	A	G	13: 4,626,306 (GRCm39)	Y110C	probably damaging	Het
Arhgef25	T	C	10: 127,019,566 (GRCm39)	I463V	probably null	Het
Atp6v1e2	C	T	17: 87,252,006 (GRCm39)	V131M	probably benign	Het
Bdnf	A	G	2: 109,505,688 (GRCm39)		probably null	Het
Bltp3b	T	C	10: 89,627,305 (GRCm39)	S145P	probably damaging	Het
C7	A	T	15: 5,023,624 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,419,114 (GRCm39)	T273A	probably benign	Het
Cdo1	T	A	18: 46,848,678 (GRCm39)	I187F	probably benign	Het
Cep104	A	T	4: 154,080,761 (GRCm39)	T742S	probably benign	Het
Ckm	A	T	7: 19,153,377 (GRCm39)	K223*	probably null	Het
Cmtr1	C	T	17: 29,895,259 (GRCm39)	P586L	probably benign	Het
Csmd1	C	T	8: 16,042,758 (GRCm39)	R2325Q	probably damaging	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Diaph3	A	C	14: 87,328,400 (GRCm39)		probably benign	Het
Dnah11	A	G	12: 118,070,245 (GRCm39)	V1520A	probably damaging	Het
Dnajc25	T	A	4: 59,020,438 (GRCm39)	M168K		Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Ebf2	A	T	14: 67,609,185 (GRCm39)	K199*	probably null	Het
Eeig2	T	C	3: 108,887,520 (GRCm39)	E248G	probably benign	Het
Efcab11	T	A	12: 99,685,294 (GRCm39)	Q160L	probably benign	Het
Eif2ak4	T	A	2: 118,261,517 (GRCm39)	S686T	probably benign	Het
Epha6	C	T	16: 60,026,095 (GRCm39)	S449N	possibly damaging	Het
Ercc4	T	C	16: 12,944,331 (GRCm39)	V329A	probably benign	Het
Faf1	T	C	4: 109,697,600 (GRCm39)	F309L	possibly damaging	Het
G6pd2	C	A	5: 61,966,910 (GRCm39)	D228E	probably benign	Het
Ggt1	T	G	10: 75,421,791 (GRCm39)	V546G	probably damaging	Het
Gpatch4	G	T	3: 87,958,524 (GRCm39)	V3F	probably damaging	Het
Gprin3	A	G	6: 59,330,372 (GRCm39)	L645P	probably damaging	Het
Hyal2	A	G	9: 107,449,270 (GRCm39)	Y342C	probably benign	Het
Inca1	T	C	11: 70,581,025 (GRCm39)	Y61C	probably damaging	Het
Ipo5	T	C	14: 121,180,145 (GRCm39)	W860R	possibly damaging	Het
Kcnj9	C	T	1: 172,150,591 (GRCm39)	A341T	probably benign	Het
Kdm5b	T	C	1: 134,530,309 (GRCm39)	V440A	probably damaging	Het
L3mbtl1	C	T	2: 162,789,255 (GRCm39)		probably benign	Het
Lin54	G	A	5: 100,600,152 (GRCm39)	T307I	probably damaging	Het
Lrrc18	C	A	14: 32,731,096 (GRCm39)	Q212K	probably benign	Het
Lrrc37a	A	G	11: 103,393,851 (GRCm39)	S525P	probably benign	Het
Lrrc71	T	A	3: 87,653,006 (GRCm39)	S137C	probably damaging	Het
Lrrk1	A	T	7: 65,940,656 (GRCm39)		probably null	Het
Man2b2	G	A	5: 36,973,542 (GRCm39)	S58L	probably benign	Het
Masp1	T	A	16: 23,276,888 (GRCm39)	H539L	probably benign	Het
Med1	G	A	11: 98,047,730 (GRCm39)	P1022L	probably damaging	Het
Meis1	T	A	11: 18,961,360 (GRCm39)	H171L	probably damaging	Het
Mier1	T	A	4: 103,012,820 (GRCm39)		probably benign	Het
Mmp13	A	T	9: 7,272,929 (GRCm39)	R96S	probably damaging	Het
Mms19	G	A	19: 41,942,173 (GRCm39)	T38I	probably damaging	Het
Mrc1	G	A	2: 14,314,843 (GRCm39)	C976Y	probably damaging	Het
Mrtfb	C	T	16: 13,230,390 (GRCm39)	T1025I	possibly damaging	Het
Naalad2	A	G	9: 18,297,191 (GRCm39)	Y32H	probably benign	Het
Ndufs1	A	G	1: 63,183,085 (GRCm39)		probably benign	Het
Nefm	C	T	14: 68,361,608 (GRCm39)	D219N	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Nwd2	T	A	5: 63,962,454 (GRCm39)	D679E	probably damaging	Het
Ogdh	T	A	11: 6,289,936 (GRCm39)		probably benign	Het
Olfm3	T	A	3: 114,916,330 (GRCm39)	S421T	possibly damaging	Het
Opn5	T	G	17: 42,903,844 (GRCm39)	T164P	possibly damaging	Het
Or4k37	A	T	2: 111,159,673 (GRCm39)	N303I	probably benign	Het
Or51a25	T	A	7: 102,373,236 (GRCm39)	I154F	probably damaging	Het
Or52a24	T	C	7: 103,381,583 (GRCm39)	V150A	probably benign	Het
Or5ak20	A	G	2: 85,184,093 (GRCm39)	M59T	possibly damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Pde7b	C	T	10: 20,314,492 (GRCm39)	V166M	probably damaging	Het
Peds1	A	T	2: 167,486,907 (GRCm39)		probably benign	Het
Pik3ap1	T	C	19: 41,313,003 (GRCm39)	N370S	probably damaging	Het
Pkhd1l1	A	T	15: 44,452,814 (GRCm39)	D3913V	probably damaging	Het
Pld1	A	G	3: 28,174,971 (GRCm39)	I90V	possibly damaging	Het
Plxna2	A	G	1: 194,326,656 (GRCm39)	T197A	possibly damaging	Het
Plxna4	A	T	6: 32,179,054 (GRCm39)	M987K	probably benign	Het
Pmch	A	G	10: 87,927,221 (GRCm39)	N75D	probably benign	Het
Prom2	T	A	2: 127,374,787 (GRCm39)	Q583L	possibly damaging	Het
Pyroxd1	T	A	6: 142,299,288 (GRCm39)	M148K	possibly damaging	Het
R3hdm2	C	T	10: 127,293,569 (GRCm39)	L158F	probably damaging	Het
Rapgef6	A	T	11: 54,516,789 (GRCm39)	T349S	probably benign	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rif1	C	A	2: 52,000,749 (GRCm39)	P1401Q	probably damaging	Het
Robo3	G	A	9: 37,328,055 (GRCm39)		probably benign	Het
Rpn1	T	A	6: 88,067,224 (GRCm39)	S195T	probably benign	Het
Rslcan18	C	A	13: 67,250,183 (GRCm39)	K17N	probably benign	Het
Rsph3b	A	T	17: 7,209,126 (GRCm39)	I48N	probably damaging	Het
Sbf2	A	T	7: 109,998,550 (GRCm39)	Y628N	probably damaging	Het
Sis	T	C	3: 72,867,629 (GRCm39)	T139A	probably benign	Het
Slc22a14	A	G	9: 119,001,100 (GRCm39)		probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Smarcb1	T	C	10: 75,732,900 (GRCm39)	T372A	probably damaging	Het
Spidr	T	A	16: 15,855,531 (GRCm39)	H328L	probably damaging	Het
Sun5	T	A	2: 153,712,872 (GRCm39)	D16V	probably damaging	Het
Syde2	G	A	3: 145,720,135 (GRCm39)	E1053K	possibly damaging	Het
Syne2	T	C	12: 76,146,238 (GRCm39)	S6419P	probably damaging	Het
Tenm3	G	A	8: 48,794,195 (GRCm39)		probably benign	Het
Timm44	C	A	8: 4,310,532 (GRCm39)	E407*	probably null	Het
Tnpo2	A	G	8: 85,773,991 (GRCm39)	T342A	probably benign	Het
Trio	A	G	15: 27,767,993 (GRCm39)	C1964R	probably benign	Het
Trip11	A	C	12: 101,851,931 (GRCm39)	L711R	probably damaging	Het
Trp53bp1	A	T	2: 121,100,450 (GRCm39)	H101Q	probably damaging	Het
Trpm6	A	G	19: 18,851,266 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,680,335 (GRCm39)		probably benign	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Unc5a	T	A	13: 55,152,767 (GRCm39)	S838T	probably damaging	Het
Uxs1	T	C	1: 43,804,046 (GRCm39)		probably null	Het
Vmn2r108	A	T	17: 20,683,096 (GRCm39)	C703S	possibly damaging	Het
Zc3hav1	C	T	6: 38,309,599 (GRCm39)	G408R	probably damaging	Het
Zfp1004	T	A	2: 150,035,000 (GRCm39)	C471*	probably null	Het
Zfp609	G	A	9: 65,610,744 (GRCm39)	L740F	possibly damaging	Het
Zfp69	T	C	4: 120,788,292 (GRCm39)	E341G	probably damaging	Het
Zfp707	A	T	15: 75,847,105 (GRCm39)	H312L	probably damaging	Het
Zfp773	T	C	7: 7,136,023 (GRCm39)	D191G	probably benign	Het
Zgrf1	C	A	3: 127,366,887 (GRCm39)	D755E	probably benign	Het
Zscan5b	T	A	7: 6,242,074 (GRCm39)	I431N	probably 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
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
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

PCR Primer
(F):5'- TGGTCATCAAACCACATGGCTGG -3'
(R):5'- GGACACAAGTGTTGACTTCTGCGAG -3'

Sequencing Primer
(F):5'- TACCTGAGGGAGCCACCTG -3'
(R):5'- CCATAGCATTTGTGACTTTACCAG -3'

Posted On

2013-06-12