Incidental Mutation 'R0632:Igf1r'
ID 59708
Institutional Source Beutler Lab
Gene Symbol Igf1r
Ensembl Gene ENSMUSG00000005533
Gene Name insulin-like growth factor I receptor
Synonyms line 186, A330103N21Rik, CD221, hyft, IGF-1R
MMRRC Submission 038821-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0632 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 68165155 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 268 (T268I)
Ref Sequence ENSEMBL: ENSMUSP00000005671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005671]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000005671
AA Change: T268I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: T268I

DomainStartEndE-ValueType
Pfam:Recep_L_domain 51 161 1.6e-29 PFAM
FU 227 270 2.98e-12 SMART
Pfam:Recep_L_domain 353 467 3.8e-32 PFAM
FN3 490 593 4.67e-2 SMART
FN3 612 815 1.95e-4 SMART
FN3 833 915 7.4e-5 SMART
low complexity region 937 954 N/A INTRINSIC
TyrKc 1000 1268 8.51e-141 SMART
low complexity region 1285 1303 N/A INTRINSIC
low complexity region 1306 1319 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207621
Meta Mutation Damage Score 0.7596 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.0%
Validation Efficiency 95% (81/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Targeted null mutants die at birth of respiratory failure; fetuses exhibit retarded growth, organ hypoplasia, ossification delay and nervous system and epidermal abnormalities. hyft homozygous fetuses are growth retarded and exhibit hydrops fetalis and focal hepatic ischemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a T A 9: 119,347,818 (GRCm38) probably benign Het
Adgrg7 T A 16: 56,742,589 (GRCm38) T462S possibly damaging Het
Akap6 A T 12: 52,937,148 (GRCm38) N825I probably damaging Het
Ankib1 T A 5: 3,772,529 (GRCm38) N59I probably benign Het
Anks6 T C 4: 47,033,167 (GRCm38) S633G possibly damaging Het
Ap4e1 C A 2: 127,049,280 (GRCm38) Y522* probably null Het
Art5 G A 7: 102,097,957 (GRCm38) T205I probably damaging Het
Ascc2 T A 11: 4,649,855 (GRCm38) L176H probably damaging Het
Atp13a5 T C 16: 29,298,208 (GRCm38) D529G probably benign Het
C2cd4a T C 9: 67,831,563 (GRCm38) E66G probably benign Het
C8a T C 4: 104,856,492 (GRCm38) D147G probably damaging Het
Ccdc14 T C 16: 34,721,649 (GRCm38) V532A possibly damaging Het
Ccdc88a T A 11: 29,482,749 (GRCm38) probably benign Het
Cfap54 C T 10: 92,885,096 (GRCm38) E2543K unknown Het
Cldn13 C T 5: 134,914,747 (GRCm38) E195K probably benign Het
Cp A G 3: 19,971,082 (GRCm38) S402G probably null Het
Cpa3 T C 3: 20,225,194 (GRCm38) T194A probably benign Het
Crygf C A 1: 65,927,997 (GRCm38) Y93* probably null Het
Ctsh A G 9: 90,061,582 (GRCm38) R87G possibly damaging Het
Cyp2t4 A G 7: 27,158,246 (GRCm38) D428G possibly damaging Het
Dnah17 C G 11: 118,067,682 (GRCm38) probably benign Het
Dnah3 A G 7: 119,967,905 (GRCm38) V2366A probably benign Het
Dscaml1 A T 9: 45,732,134 (GRCm38) I1284F probably benign Het
Dsg1c T C 18: 20,272,346 (GRCm38) probably benign Het
Dst G T 1: 34,271,413 (GRCm38) R4098L probably damaging Het
Efhb A G 17: 53,413,459 (GRCm38) probably benign Het
Epha7 A T 4: 28,821,104 (GRCm38) I90F probably damaging Het
Fam171a2 T A 11: 102,437,881 (GRCm38) D684V probably damaging Het
Fan1 A G 7: 64,363,199 (GRCm38) V665A possibly damaging Het
Fbn2 A G 18: 58,037,747 (GRCm38) C2191R probably damaging Het
Fkbp3 G A 12: 65,073,918 (GRCm38) A2V probably benign Het
G6pd2 A G 5: 61,810,171 (GRCm38) N430D probably benign Het
Gm13547 T A 2: 29,761,584 (GRCm38) D7E possibly damaging Het
H4c9 G T 13: 22,041,027 (GRCm38) Y99* probably null Het
Hdac5 A T 11: 102,205,812 (GRCm38) D260E probably damaging Het
Hsf2bp T C 17: 32,013,346 (GRCm38) E142G probably damaging Het
Inava T C 1: 136,227,618 (GRCm38) D83G probably benign Het
Kcne3 C T 7: 100,184,439 (GRCm38) R88C probably damaging Het
Klk1b9 G T 7: 43,979,372 (GRCm38) G100V possibly damaging Het
Kmt2d G A 15: 98,853,581 (GRCm38) probably benign Het
Lama1 C T 17: 67,752,368 (GRCm38) probably benign Het
Lcp2 C T 11: 34,082,426 (GRCm38) P335S possibly damaging Het
Lrrk2 T A 15: 91,796,028 (GRCm38) N2047K probably damaging Het
Mcub T C 3: 129,918,726 (GRCm38) M167V probably benign Het
Mia2 T C 12: 59,136,143 (GRCm38) L36P probably damaging Het
Mmp13 G A 9: 7,274,032 (GRCm38) G169R probably damaging Het
Mmp13 A T 9: 7,282,077 (GRCm38) I460F possibly damaging Het
Msh4 A G 3: 153,896,895 (GRCm38) I232T probably damaging Het
Msra T A 14: 64,210,532 (GRCm38) M145L probably benign Het
Myo7a A T 7: 98,112,150 (GRCm38) probably benign Het
Nme8 A T 13: 19,658,036 (GRCm38) N422K probably damaging Het
Nol6 A T 4: 41,121,115 (GRCm38) F353I probably damaging Het
Nphp3 A G 9: 104,018,274 (GRCm38) K384E probably damaging Het
Or51h5 C T 7: 102,928,604 (GRCm38) probably null Het
Or52e15 A G 7: 104,996,703 (GRCm38) I67T probably benign Het
Or52h7 A G 7: 104,564,337 (GRCm38) I39V probably benign Het
Phox2b T G 5: 67,096,214 (GRCm38) probably benign Het
Plec A T 15: 76,173,411 (GRCm38) S4131T probably damaging Het
Pptc7 G A 5: 122,313,591 (GRCm38) probably benign Het
Pramel31 G A 4: 144,363,782 (GRCm38) C464Y probably damaging Het
Prpf40b A G 15: 99,316,289 (GRCm38) E810G probably benign Het
Ptprc C T 1: 138,073,610 (GRCm38) V965I probably benign Het
Pum1 T A 4: 130,728,104 (GRCm38) M180K probably benign Het
Ranbp3 T C 17: 56,702,896 (GRCm38) probably benign Het
Rasgrf2 A G 13: 91,972,274 (GRCm38) S787P probably benign Het
Rnf19b T A 4: 129,073,551 (GRCm38) N294K probably damaging Het
Samd3 A T 10: 26,244,495 (GRCm38) H156L possibly damaging Het
Serpinb6c C T 13: 33,880,031 (GRCm38) R347Q possibly damaging Het
Slc36a3 A G 11: 55,125,080 (GRCm38) I416T probably damaging Het
Slc4a4 T A 5: 89,129,641 (GRCm38) F279Y probably damaging Het
Slc6a2 T A 8: 92,992,801 (GRCm38) probably benign Het
Snrnp40 C G 4: 130,378,043 (GRCm38) probably null Het
Tab2 A G 10: 7,919,801 (GRCm38) S232P probably benign Het
Tacc2 A T 7: 130,625,595 (GRCm38) K1356* probably null Het
Tmem87a A G 2: 120,359,542 (GRCm38) S544P probably damaging Het
Trim52 T A 14: 106,106,967 (GRCm38) C20S probably damaging Het
Usp38 A T 8: 81,014,150 (GRCm38) V96E probably benign Het
Vmn2r59 T C 7: 42,058,884 (GRCm38) Y33C probably damaging Het
Vsig10l T G 7: 43,464,137 (GRCm38) V171G probably damaging Het
Zfp957 T A 14: 79,212,920 (GRCm38) I480F probably damaging Het
Other mutations in Igf1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Igf1r APN 7 68,190,023 (GRCm38) missense probably benign
IGL00837:Igf1r APN 7 68,201,352 (GRCm38) splice site probably benign
IGL01515:Igf1r APN 7 68,207,452 (GRCm38) missense probably damaging 1.00
IGL01572:Igf1r APN 7 68,193,441 (GRCm38) missense probably benign 0.01
IGL02100:Igf1r APN 7 68,189,958 (GRCm38) missense probably benign 0.05
IGL02506:Igf1r APN 7 68,193,396 (GRCm38) missense probably benign
IGL02672:Igf1r APN 7 68,190,033 (GRCm38) missense probably benign 0.05
IGL02701:Igf1r APN 7 68,201,249 (GRCm38) missense possibly damaging 0.93
IGL02742:Igf1r APN 7 68,189,991 (GRCm38) missense possibly damaging 0.94
IGL03073:Igf1r APN 7 68,215,043 (GRCm38) missense probably damaging 1.00
IGL03257:Igf1r APN 7 68,214,940 (GRCm38) missense probably damaging 1.00
Frufru UTSW 7 68,004,163 (GRCm38) missense probably damaging 1.00
Hungarian UTSW 7 68,214,997 (GRCm38) missense probably damaging 1.00
Mimi UTSW 7 68,195,026 (GRCm38) missense possibly damaging 0.67
Piroshka UTSW 7 68,207,336 (GRCm38) nonsense probably null
Romanian UTSW 7 68,004,137 (GRCm38) missense possibly damaging 0.94
Sublime UTSW 7 68,004,179 (GRCm38) missense probably damaging 1.00
Toy UTSW 7 68,003,972 (GRCm38) missense probably damaging 1.00
BB009:Igf1r UTSW 7 68,212,054 (GRCm38) missense possibly damaging 0.88
BB019:Igf1r UTSW 7 68,212,054 (GRCm38) missense possibly damaging 0.88
FR4548:Igf1r UTSW 7 68,226,186 (GRCm38) small insertion probably benign
FR4737:Igf1r UTSW 7 68,226,181 (GRCm38) small insertion probably benign
FR4976:Igf1r UTSW 7 68,226,186 (GRCm38) small insertion probably benign
FR4976:Igf1r UTSW 7 68,226,181 (GRCm38) small insertion probably benign
PIT4445001:Igf1r UTSW 7 68,207,463 (GRCm38) missense probably damaging 1.00
R0003:Igf1r UTSW 7 68,165,242 (GRCm38) missense probably damaging 1.00
R0184:Igf1r UTSW 7 68,226,193 (GRCm38) missense possibly damaging 0.84
R0538:Igf1r UTSW 7 68,207,826 (GRCm38) missense probably damaging 1.00
R0727:Igf1r UTSW 7 68,212,158 (GRCm38) critical splice donor site probably null
R0750:Igf1r UTSW 7 68,212,091 (GRCm38) missense probably damaging 0.99
R1104:Igf1r UTSW 7 68,195,026 (GRCm38) missense possibly damaging 0.67
R1169:Igf1r UTSW 7 68,165,127 (GRCm38) missense probably benign 0.00
R1348:Igf1r UTSW 7 68,218,468 (GRCm38) missense probably damaging 1.00
R1471:Igf1r UTSW 7 68,003,837 (GRCm38) missense probably damaging 0.98
R1580:Igf1r UTSW 7 68,207,869 (GRCm38) missense probably benign
R1745:Igf1r UTSW 7 68,169,913 (GRCm38) missense probably damaging 1.00
R1772:Igf1r UTSW 7 68,195,074 (GRCm38) missense probably benign 0.03
R1789:Igf1r UTSW 7 68,214,933 (GRCm38) nonsense probably null
R1823:Igf1r UTSW 7 68,194,981 (GRCm38) missense possibly damaging 0.77
R1902:Igf1r UTSW 7 68,201,249 (GRCm38) missense possibly damaging 0.93
R1962:Igf1r UTSW 7 68,207,275 (GRCm38) missense probably damaging 0.99
R2179:Igf1r UTSW 7 68,003,950 (GRCm38) missense probably damaging 0.99
R2215:Igf1r UTSW 7 68,165,234 (GRCm38) missense probably benign
R2221:Igf1r UTSW 7 68,201,962 (GRCm38) missense probably damaging 1.00
R2233:Igf1r UTSW 7 68,212,080 (GRCm38) missense probably damaging 1.00
R2234:Igf1r UTSW 7 68,212,080 (GRCm38) missense probably damaging 1.00
R2235:Igf1r UTSW 7 68,212,080 (GRCm38) missense probably damaging 1.00
R3023:Igf1r UTSW 7 68,183,399 (GRCm38) missense probably benign 0.00
R4044:Igf1r UTSW 7 68,190,062 (GRCm38) missense possibly damaging 0.83
R4226:Igf1r UTSW 7 68,195,078 (GRCm38) nonsense probably null
R4387:Igf1r UTSW 7 68,170,009 (GRCm38) missense probably benign
R4388:Igf1r UTSW 7 68,170,009 (GRCm38) missense probably benign
R4728:Igf1r UTSW 7 68,189,624 (GRCm38) missense probably damaging 1.00
R4781:Igf1r UTSW 7 68,165,199 (GRCm38) missense possibly damaging 0.75
R5254:Igf1r UTSW 7 68,207,319 (GRCm38) missense probably damaging 0.99
R5278:Igf1r UTSW 7 68,193,418 (GRCm38) missense possibly damaging 0.78
R5510:Igf1r UTSW 7 68,193,359 (GRCm38) missense probably benign 0.19
R5522:Igf1r UTSW 7 68,183,510 (GRCm38) missense probably damaging 0.96
R5527:Igf1r UTSW 7 68,207,821 (GRCm38) missense probably damaging 1.00
R5761:Igf1r UTSW 7 68,207,253 (GRCm38) missense probably damaging 1.00
R5849:Igf1r UTSW 7 68,190,033 (GRCm38) missense probably benign
R6189:Igf1r UTSW 7 68,207,336 (GRCm38) nonsense probably null
R6262:Igf1r UTSW 7 68,003,972 (GRCm38) missense probably damaging 1.00
R6285:Igf1r UTSW 7 68,004,137 (GRCm38) missense possibly damaging 0.94
R6318:Igf1r UTSW 7 68,165,233 (GRCm38) missense probably benign 0.02
R6365:Igf1r UTSW 7 68,190,050 (GRCm38) missense probably benign 0.26
R6377:Igf1r UTSW 7 68,201,250 (GRCm38) missense probably benign 0.00
R6831:Igf1r UTSW 7 68,207,319 (GRCm38) missense possibly damaging 0.75
R6848:Igf1r UTSW 7 68,004,179 (GRCm38) missense probably damaging 1.00
R6902:Igf1r UTSW 7 68,004,163 (GRCm38) missense probably damaging 1.00
R7193:Igf1r UTSW 7 68,187,157 (GRCm38) missense probably damaging 1.00
R7373:Igf1r UTSW 7 68,195,078 (GRCm38) nonsense probably null
R7442:Igf1r UTSW 7 68,173,278 (GRCm38) missense probably damaging 1.00
R7903:Igf1r UTSW 7 68,184,752 (GRCm38) missense probably damaging 1.00
R7923:Igf1r UTSW 7 68,190,101 (GRCm38) missense probably damaging 1.00
R7932:Igf1r UTSW 7 68,212,054 (GRCm38) missense possibly damaging 0.88
R8368:Igf1r UTSW 7 68,187,048 (GRCm38) missense probably benign 0.03
R8458:Igf1r UTSW 7 68,195,629 (GRCm38) missense probably benign
R8539:Igf1r UTSW 7 68,003,848 (GRCm38) missense probably benign 0.06
R8704:Igf1r UTSW 7 68,170,054 (GRCm38) splice site probably benign
R8746:Igf1r UTSW 7 68,214,997 (GRCm38) missense probably damaging 1.00
R8829:Igf1r UTSW 7 68,226,021 (GRCm38) missense probably damaging 1.00
R8832:Igf1r UTSW 7 68,226,021 (GRCm38) missense probably damaging 1.00
R8859:Igf1r UTSW 7 68,183,463 (GRCm38) missense possibly damaging 0.75
R9057:Igf1r UTSW 7 68,183,438 (GRCm38) missense probably damaging 1.00
R9243:Igf1r UTSW 7 68,212,027 (GRCm38) missense probably benign 0.11
R9342:Igf1r UTSW 7 68,194,998 (GRCm38) missense probably benign 0.00
R9412:Igf1r UTSW 7 68,207,253 (GRCm38) missense probably damaging 1.00
R9525:Igf1r UTSW 7 68,214,934 (GRCm38) missense probably damaging 1.00
R9727:Igf1r UTSW 7 68,207,806 (GRCm38) missense probably damaging 1.00
R9730:Igf1r UTSW 7 68,189,675 (GRCm38) missense probably damaging 1.00
R9779:Igf1r UTSW 7 68,004,317 (GRCm38) missense probably damaging 1.00
RF025:Igf1r UTSW 7 68,226,179 (GRCm38) small insertion probably benign
RF032:Igf1r UTSW 7 68,226,179 (GRCm38) small insertion probably benign
RF034:Igf1r UTSW 7 68,226,176 (GRCm38) small insertion probably benign
RF037:Igf1r UTSW 7 68,226,176 (GRCm38) small insertion probably benign
RF039:Igf1r UTSW 7 68,226,176 (GRCm38) small insertion probably benign
RF044:Igf1r UTSW 7 68,226,179 (GRCm38) small insertion probably benign
Z1186:Igf1r UTSW 7 68,226,168 (GRCm38) small insertion probably benign
Z1186:Igf1r UTSW 7 68,226,182 (GRCm38) small insertion probably benign
Z1186:Igf1r UTSW 7 68,226,180 (GRCm38) small insertion probably benign
Z1186:Igf1r UTSW 7 68,226,174 (GRCm38) small insertion probably benign
Z1186:Igf1r UTSW 7 68,226,169 (GRCm38) small insertion probably benign
Z1191:Igf1r UTSW 7 68,226,170 (GRCm38) small insertion probably benign
Z1191:Igf1r UTSW 7 68,226,169 (GRCm38) small insertion probably benign
Z1191:Igf1r UTSW 7 68,226,173 (GRCm38) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- TGGCTCATCCCATAGCAAACCAGG -3'
(R):5'- GGCCAGCAAGCTAATTCTTACGCTC -3'

Sequencing Primer
(F):5'- GACGGTAAGATCTACGCAGATTTC -3'
(R):5'- CTACACTTAGGGGCTATGCAG -3'
Posted On 2013-07-11