Incidental Mutation 'R7751:Igfbp7'
ID 597219
Institutional Source Beutler Lab
Gene Symbol Igfbp7
Ensembl Gene ENSMUSG00000036256
Gene Name insulin-like growth factor binding protein 7
Synonyms AGM, Fstl2, mac25
MMRRC Submission 045807-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7751 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 77497092-77555892 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 77499134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 257 (A257V)
Ref Sequence ENSEMBL: ENSMUSP00000045057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031167] [ENSMUST00000046746] [ENSMUST00000163898]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000031167
SMART Domains Protein: ENSMUSP00000031167
Gene: ENSMUSG00000029250

DomainStartEndE-ValueType
low complexity region 1 16 N/A INTRINSIC
Pfam:RNA_pol_Rpb2_1 38 442 2.5e-69 PFAM
Pfam:RNA_pol_Rpb2_2 201 394 3.7e-57 PFAM
Pfam:RNA_pol_Rpb2_3 468 532 6.1e-25 PFAM
Pfam:RNA_pol_Rpb2_4 567 629 7.4e-27 PFAM
Pfam:RNA_pol_Rpb2_5 653 700 1.6e-22 PFAM
Pfam:RNA_pol_Rpb2_6 707 1080 4.5e-129 PFAM
Pfam:RNA_pol_Rpb2_7 1082 1174 3.3e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046746
AA Change: A257V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000045057
Gene: ENSMUSG00000036256
AA Change: A257V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 166 266 5.53e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163898
AA Change: A288V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128318
Gene: ENSMUSG00000036256
AA Change: A288V

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
IB 30 113 9.23e-19 SMART
KAZAL 110 156 6.39e-12 SMART
IG 197 297 5.53e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (82/84)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the insulin-like growth factor (IGF)-binding protein (IGFBP) family. IGFBPs bind IGFs with high affinity, and regulate IGF availability in body fluids and tissues and modulate IGF binding to its receptors. This protein binds IGF-I and IGF-II with relatively low affinity, and belongs to a subfamily of low-affinity IGFBPs. It also stimulates prostacyclin production and cell adhesion. Alternatively spliced transcript variants encoding different isoforms have been described for this gene, and one variant has been associated with retinal arterial macroaneurysm (PMID:21835307). [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit retarded mammary gland developmental in virgin and adult females, reduced mammary gland size and alveolar density during pregnancy, precocious involution in lactating mammary glands, and abnormal milk composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,965,044 (GRCm39) I769F possibly damaging Het
Ackr1 A C 1: 173,159,779 (GRCm39) W247G probably damaging Het
Adgrl4 G A 3: 151,197,946 (GRCm39) G69S probably damaging Het
Agrn C T 4: 156,260,886 (GRCm39) S710N probably damaging Het
Aox3 A G 1: 58,218,494 (GRCm39) M1103V probably benign Het
Asb18 G A 1: 89,896,206 (GRCm39) A278V probably benign Het
B3gat2 A G 1: 23,801,945 (GRCm39) E77G probably benign Het
Camta1 T C 4: 151,232,863 (GRCm39) probably null Het
Cbll1 A T 12: 31,537,579 (GRCm39) I392N probably damaging Het
Ccdc113 A G 8: 96,264,829 (GRCm39) D113G possibly damaging Het
Cd79a T C 7: 24,599,092 (GRCm39) F148L probably benign Het
Chad T A 11: 94,455,999 (GRCm39) C26S probably damaging Het
Cog4 T C 8: 111,607,600 (GRCm39) F696L probably damaging Het
Csf2rb T G 15: 78,225,839 (GRCm39) S303R probably damaging Het
Cstpp1 A T 2: 91,214,118 (GRCm39) L79H probably damaging Het
Cubn C T 2: 13,365,176 (GRCm39) G1621R probably damaging Het
Dennd4c T A 4: 86,747,179 (GRCm39) N1454K probably benign Het
Dennd5b T C 6: 148,918,604 (GRCm39) I853V probably benign Het
Dnaaf11 T C 15: 66,321,412 (GRCm39) E243G probably benign Het
Dop1a A T 9: 86,389,783 (GRCm39) D561V probably benign Het
Dpysl4 A G 7: 138,669,456 (GRCm39) I45V probably benign Het
Ect2l A C 10: 18,045,153 (GRCm39) S301A possibly damaging Het
Elf2 A G 3: 51,165,035 (GRCm39) V323A probably damaging Het
Epcam C T 17: 87,947,904 (GRCm39) R125* probably null Het
Ephb4 T C 5: 137,363,937 (GRCm39) V612A probably damaging Het
Erich3 C T 3: 154,469,426 (GRCm39) R1293C unknown Het
F830045P16Rik C A 2: 129,302,367 (GRCm39) L408F probably damaging Het
Gask1a G A 9: 121,793,887 (GRCm39) V14I probably benign Het
Gm13102 T C 4: 143,835,787 (GRCm39) I485T probably benign Het
Gm16494 A T 17: 47,327,800 (GRCm39) L28* probably null Het
Grin2c A G 11: 115,144,696 (GRCm39) V610A probably damaging Het
Hacd2 T A 16: 34,922,434 (GRCm39) Y208N probably damaging Het
Hlf A T 11: 90,278,821 (GRCm39) F81Y probably damaging Het
Il12a A T 3: 68,605,235 (GRCm39) N167I probably damaging Het
Il1r2 G A 1: 40,162,371 (GRCm39) C338Y probably damaging Het
Irf2bpl G T 12: 86,930,489 (GRCm39) H61Q probably damaging Het
Kansl1 A G 11: 104,314,890 (GRCm39) F383L probably benign Het
Kcnh8 A G 17: 53,268,871 (GRCm39) T863A probably damaging Het
Klhl36 C A 8: 120,596,397 (GRCm39) Q33K probably benign Het
Lrig2 A T 3: 104,401,985 (GRCm39) Y113* probably null Het
Lrrc36 T A 8: 106,178,667 (GRCm39) S287R possibly damaging Het
Mr1 A T 1: 155,005,054 (GRCm39) Y329N probably damaging Het
Muc5ac G C 7: 141,363,040 (GRCm39) G2117A unknown Het
Nectin4 G A 1: 171,211,326 (GRCm39) probably null Het
Nsrp1 A G 11: 76,940,097 (GRCm39) probably null Het
Or1e21 A T 11: 73,344,372 (GRCm39) I222N possibly damaging Het
Or9g3 A G 2: 85,583,836 (GRCm39) T44A probably benign Het
Pcdh8 A T 14: 80,008,143 (GRCm39) I140N probably damaging Het
Pdzd8 A G 19: 59,333,208 (GRCm39) V271A probably damaging Het
Pex3 T A 10: 13,403,550 (GRCm39) I324L possibly damaging Het
Pira12 T A 7: 3,898,603 (GRCm39) I282F probably damaging Het
Pitpnm1 T A 19: 4,153,470 (GRCm39) F209I probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pkhd1 T A 1: 20,271,149 (GRCm39) T3135S probably damaging Het
Pramel32 T C 4: 88,547,356 (GRCm39) D192G probably benign Het
Prdm16 T C 4: 154,412,756 (GRCm39) N1082S probably damaging Het
Psmd12 A T 11: 107,370,439 (GRCm39) I13F possibly damaging Het
Ptgs2 A T 1: 149,980,258 (GRCm39) I399F probably benign Het
Rasa3 A T 8: 13,618,708 (GRCm39) S830T probably benign Het
Rasgef1c A T 11: 49,861,120 (GRCm39) R362W probably damaging Het
Resf1 A G 6: 149,226,936 (GRCm39) probably benign Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf217 C A 10: 31,393,415 (GRCm39) G389W probably damaging Het
Sec16b A T 1: 157,385,630 (GRCm39) D675V probably damaging Het
Serpinb12 A G 1: 106,877,401 (GRCm39) Y137C probably damaging Het
Slc2a5 T A 4: 150,227,591 (GRCm39) I470N probably damaging Het
Slc5a1 T C 5: 33,290,761 (GRCm39) I115T possibly damaging Het
Slco1a4 A T 6: 141,780,413 (GRCm39) S126T possibly damaging Het
St6galnac2 T C 11: 116,568,410 (GRCm39) D351G probably damaging Het
Stat4 G A 1: 52,121,711 (GRCm39) V357M possibly damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tdrd9 T A 12: 111,958,982 (GRCm39) C139S probably benign Het
Tmed9 G A 13: 55,741,054 (GRCm39) R23Q not run Het
Tmem150a A C 6: 72,336,028 (GRCm39) H205P probably damaging Het
Tns2 C A 15: 102,018,163 (GRCm39) L350I probably benign Het
Tpr A G 1: 150,295,646 (GRCm39) T964A probably benign Het
Traf3ip1 G T 1: 91,422,479 (GRCm39) probably benign Het
Trem2 G T 17: 48,653,567 (GRCm39) probably benign Het
Ttc14 G A 3: 33,863,590 (GRCm39) G666D unknown Het
Ulk1 T C 5: 110,957,078 (GRCm39) D40G probably damaging Het
Vmn1r30 A G 6: 58,412,397 (GRCm39) V145A probably benign Het
Vmn1r79 C T 7: 11,910,762 (GRCm39) Q215* probably null Het
Wnk2 G A 13: 49,231,493 (GRCm39) T16I unknown Het
Yme1l1 T C 2: 23,077,856 (GRCm39) probably null Het
Zbtb16 T A 9: 48,654,769 (GRCm39) H454L probably damaging Het
Zkscan5 A C 5: 145,157,676 (GRCm39) H726P probably damaging Het
Zrsr2-ps1 A G 11: 22,923,595 (GRCm39) Q123R possibly damaging Het
Other mutations in Igfbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Igfbp7 APN 5 77,499,884 (GRCm39) splice site probably benign
IGL01528:Igfbp7 APN 5 77,499,179 (GRCm39) missense probably damaging 1.00
IGL02964:Igfbp7 APN 5 77,499,188 (GRCm39) missense possibly damaging 0.65
IGL03223:Igfbp7 APN 5 77,497,318 (GRCm39) utr 3 prime probably benign
R0403:Igfbp7 UTSW 5 77,503,438 (GRCm39) missense probably benign 0.36
R0639:Igfbp7 UTSW 5 77,499,827 (GRCm39) missense probably damaging 1.00
R4647:Igfbp7 UTSW 5 77,499,143 (GRCm39) missense possibly damaging 0.93
R4688:Igfbp7 UTSW 5 77,555,482 (GRCm39) missense probably damaging 1.00
R4945:Igfbp7 UTSW 5 77,499,104 (GRCm39) missense probably benign 0.44
R4970:Igfbp7 UTSW 5 77,555,608 (GRCm39) missense possibly damaging 0.83
R7095:Igfbp7 UTSW 5 77,549,337 (GRCm39) missense probably benign 0.28
R7332:Igfbp7 UTSW 5 77,499,803 (GRCm39) missense probably damaging 1.00
R8243:Igfbp7 UTSW 5 77,549,339 (GRCm39) missense probably benign 0.30
R9709:Igfbp7 UTSW 5 77,549,384 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTTGAGGCATGCAATCTGGC -3'
(R):5'- AGGACTTCACTACTTCTCATAGC -3'

Sequencing Primer
(F):5'- GAGGCATGCAATCTGGCTGTAATTAC -3'
(R):5'- TAGCAGCTCCGCTCCCAAG -3'
Posted On 2019-11-26