Incidental Mutation 'R7002:Igfbp2'
ID 544569
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 045107-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.271) question?
Stock # R7002 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 72863662-72891633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 72888804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 85 (H85Y)
Ref Sequence ENSEMBL: ENSMUSP00000112706 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047328] [ENSMUST00000120564]
AlphaFold P47877
Predicted Effect probably damaging
Transcript: ENSMUST00000047328
AA Change: H232Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046610
Gene: ENSMUSG00000039323
AA Change: H232Y

DomainStartEndE-ValueType
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: H85Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112706
Gene: ENSMUSG00000039323
AA Change: H85Y

DomainStartEndE-ValueType
TY 91 143 1.17e-19 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,832,390 (GRCm39) S1308P probably damaging Het
Abl2 A T 1: 156,386,703 (GRCm39) R29W probably damaging Het
Adam6b C A 12: 113,453,327 (GRCm39) S48* probably null Het
Adamts18 T A 8: 114,501,922 (GRCm39) D313V possibly damaging Het
Aoc1 A G 6: 48,882,810 (GRCm39) S229G probably benign Het
Apol10a G A 15: 77,369,046 (GRCm39) R15H possibly damaging Het
Bend4 T A 5: 67,555,602 (GRCm39) T535S probably benign Het
Blm T C 7: 80,119,501 (GRCm39) K1024R probably benign Het
Brca2 T C 5: 150,463,383 (GRCm39) V1049A probably benign Het
Cerk T C 15: 86,040,795 (GRCm39) Y188C possibly damaging Het
Cic C T 7: 24,971,621 (GRCm39) R451C probably damaging Het
Col18a1 A T 10: 77,002,177 (GRCm39) V10E unknown Het
Cplx1 T A 5: 108,668,182 (GRCm39) K58M probably damaging Het
Crybg1 T A 10: 43,874,831 (GRCm39) D759V probably damaging Het
Cwc25 A T 11: 97,638,897 (GRCm39) N342K probably damaging Het
Dab2 A T 15: 6,464,846 (GRCm39) T566S probably benign Het
Depdc5 G A 5: 33,034,502 (GRCm39) probably null Het
Dip2b T A 15: 100,058,346 (GRCm39) N408K probably benign Het
Dnah12 T C 14: 26,598,955 (GRCm39) I3631T probably damaging Het
Dnase1 A G 16: 3,857,410 (GRCm39) I236V possibly damaging Het
Duox1 C T 2: 122,150,358 (GRCm39) Q196* probably null Het
Eef2k G A 7: 120,491,155 (GRCm39) R547Q probably benign Het
Erich5 C T 15: 34,471,508 (GRCm39) L246F probably damaging Het
Frmpd1 C T 4: 45,284,200 (GRCm39) A1007V probably benign Het
Fsip2 T A 2: 82,819,687 (GRCm39) I5140N possibly damaging Het
Gan T C 8: 117,922,586 (GRCm39) C440R possibly damaging Het
Garnl3 T A 2: 32,944,205 (GRCm39) H73L possibly damaging Het
Gid8 T G 2: 180,355,096 (GRCm39) M34R possibly damaging Het
Gjd4 C A 18: 9,280,960 (GRCm39) L39F possibly damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grhpr T C 4: 44,990,427 (GRCm39) S306P probably damaging Het
H2bc21 A G 3: 96,128,689 (GRCm39) I70V probably benign Het
Hdac4 T G 1: 91,896,083 (GRCm39) K729T possibly damaging Het
Igkv4-61 T G 6: 69,394,373 (GRCm39) I13L probably benign Het
Il18r1 G A 1: 40,514,013 (GRCm39) S73N probably benign Het
Immt T C 6: 71,838,024 (GRCm39) V244A probably damaging Het
Irs1 T C 1: 82,265,981 (GRCm39) Y745C probably benign Het
Itpr3 T C 17: 27,329,554 (GRCm39) V1526A probably benign Het
Jrkl A T 9: 13,245,526 (GRCm39) I45K probably damaging Het
Lamp3 G T 16: 19,474,172 (GRCm39) Q401K possibly damaging Het
Lrrfip1 T A 1: 91,043,180 (GRCm39) H528Q probably benign Het
Ltn1 A T 16: 87,220,361 (GRCm39) D245E probably benign Het
Mmut T A 17: 41,252,274 (GRCm39) I272N possibly damaging Het
Mnat1 T C 12: 73,277,479 (GRCm39) probably benign Het
Mprip A C 11: 59,652,016 (GRCm39) M1907L probably benign Het
Nfu1 C A 6: 86,993,254 (GRCm39) H131Q probably benign Het
Nup188 T A 2: 30,213,580 (GRCm39) S670R probably damaging Het
Or5b120 A G 19: 13,480,039 (GRCm39) N111D probably benign Het
Or8k40 T C 2: 86,585,025 (GRCm39) D19G probably benign Het
Pals2 C T 6: 50,139,642 (GRCm39) P116L probably benign Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pbrm1 T A 14: 30,786,777 (GRCm39) D631E probably benign Het
Prss40 A T 1: 34,591,481 (GRCm39) probably null Het
Rnf13 A G 3: 57,741,033 (GRCm39) N274S probably damaging Het
Rtl1 T A 12: 109,560,381 (GRCm39) Y486F probably damaging Het
Sec14l3 A T 11: 4,025,263 (GRCm39) H291L possibly damaging Het
Senp5 A G 16: 31,802,593 (GRCm39) S532P probably damaging Het
Sepsecs T C 5: 52,804,550 (GRCm39) probably null Het
Serpina1e T C 12: 103,914,338 (GRCm39) I329V probably benign Het
Slc10a4-ps T A 5: 72,743,763 (GRCm39) probably null Het
Slc35f3 CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC 8: 127,115,773 (GRCm39) unknown Het
Smc5 A G 19: 23,209,247 (GRCm39) V639A probably benign Het
Speg T A 1: 75,399,912 (GRCm39) V2453E probably damaging Het
Syt2 T A 1: 134,671,842 (GRCm39) F207I probably damaging Het
Tchp C T 5: 114,846,857 (GRCm39) S48L probably benign Het
Trim12a A G 7: 103,953,383 (GRCm39) S243P possibly damaging Het
Ttn T C 2: 76,628,561 (GRCm39) E14533G probably damaging Het
Vmn1r50 T A 6: 90,084,819 (GRCm39) M188K probably benign Het
Vps11 G A 9: 44,266,376 (GRCm39) T437I probably damaging Het
Xrn1 C T 9: 95,929,843 (GRCm39) T1498I probably benign Het
Zfp236 A G 18: 82,709,701 (GRCm39) probably null Het
Zfp316 T C 5: 143,249,110 (GRCm39) D175G unknown Het
Zmynd11 A G 13: 9,744,366 (GRCm39) L256P probably damaging Het
Other mutations in Igfbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
R7511:Igfbp2 UTSW 1 72,891,164 (GRCm39) missense probably damaging 1.00
R7586:Igfbp2 UTSW 1 72,888,307 (GRCm39) missense probably benign
R8323:Igfbp2 UTSW 1 72,888,780 (GRCm39) missense probably damaging 1.00
R9080:Igfbp2 UTSW 1 72,891,157 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGGACACTGATACTGCCCTAC -3'
(R):5'- GCATCCAAGCTCAGCTCTTAGC -3'

Sequencing Primer
(F):5'- GAGTCTCTTCCTCACGGATCAGG -3'
(R):5'- TCTTAGCTCCCAGGGACTATACAAG -3'
Posted On 2019-05-13