Incidental Mutation 'R1823:Igf1r'
ID 206573
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 039851-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1823 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68194981 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 834 (D834G)
Ref Sequence ENSEMBL: ENSMUSP00000005671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005671]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000005671
AA Change: D834G

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: D834G

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: ENSMUST00000208348
Meta Mutation Damage Score 0.1503 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.6%
Validation Efficiency 98% (87/89)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810041L15Rik T C 15: 84,406,468 (GRCm38) T213A probably benign Het
Adcy1 G A 11: 7,161,312 (GRCm38) V868I probably benign Het
Ahnak G T 19: 9,004,905 (GRCm38) M1184I probably damaging Het
Akap11 T C 14: 78,511,488 (GRCm38) E1153G probably damaging Het
Amy1 T C 3: 113,562,727 (GRCm38) N260S probably null Het
Ankrd6 A G 4: 32,824,427 (GRCm38) L129P probably damaging Het
Aox2 A T 1: 58,312,359 (GRCm38) T702S probably benign Het
Apobec1 G T 6: 122,578,886 (GRCm38) T204K possibly damaging Het
Arhgef19 A G 4: 141,249,146 (GRCm38) R433G probably benign Het
Atf6b T A 17: 34,648,644 (GRCm38) H110Q possibly damaging Het
Btnl4 C T 17: 34,475,852 (GRCm38) probably null Het
Camsap2 T C 1: 136,273,783 (GRCm38) T662A possibly damaging Het
Cbs G A 17: 31,624,271 (GRCm38) H229Y probably damaging Het
Cct8 G A 16: 87,490,554 (GRCm38) R111* probably null Het
Cdc42bpb C T 12: 111,327,559 (GRCm38) A250T probably damaging Het
Chrd A G 16: 20,741,347 (GRCm38) probably benign Het
Ckap2l A G 2: 129,275,579 (GRCm38) F559L probably damaging Het
D630003M21Rik T C 2: 158,217,557 (GRCm38) Y141C probably damaging Het
Dbf4 T C 5: 8,397,539 (GRCm38) N557S probably benign Het
Dct T G 14: 118,036,523 (GRCm38) N324T probably benign Het
Dip2a A T 10: 76,278,502 (GRCm38) L999* probably null Het
Dock10 T A 1: 80,543,097 (GRCm38) probably null Het
Dync2li1 A T 17: 84,649,797 (GRCm38) D330V probably damaging Het
Eif4g3 T A 4: 138,180,491 (GRCm38) D1267E probably benign Het
Enc1 A G 13: 97,245,978 (GRCm38) E332G possibly damaging Het
Fat2 C T 11: 55,256,780 (GRCm38) V3879I probably benign Het
Fh1 A T 1: 175,616,548 (GRCm38) I117K probably damaging Het
Fkbp15 A G 4: 62,337,091 (GRCm38) L227P probably damaging Het
Fpr1 T A 17: 17,877,053 (GRCm38) M225L probably benign Het
Fras1 A T 5: 96,770,688 (GRCm38) I3528F probably damaging Het
Grm7 A G 6: 111,207,769 (GRCm38) T354A probably benign Het
Ift27 T A 15: 78,173,778 (GRCm38) I9F possibly damaging Het
Igsf9b T A 9: 27,331,732 (GRCm38) L738Q probably damaging Het
Itgam A T 7: 128,064,732 (GRCm38) T44S probably benign Het
Ivd T A 2: 118,862,034 (GRCm38) I5N probably benign Het
Jcad T C 18: 4,675,780 (GRCm38) S1181P probably damaging Het
Kctd18 A G 1: 57,956,365 (GRCm38) V251A probably benign Het
Mycbp2 A G 14: 103,252,509 (GRCm38) V953A possibly damaging Het
Myo18a T C 11: 77,825,097 (GRCm38) probably benign Het
Myo3a A T 2: 22,340,280 (GRCm38) Y509F probably damaging Het
Myocd C A 11: 65,178,670 (GRCm38) M909I probably benign Het
Ndufv3 G A 17: 31,531,245 (GRCm38) R467Q probably damaging Het
Nkpd1 G A 7: 19,523,252 (GRCm38) V319M probably damaging Het
Olfr1216 A G 2: 89,013,378 (GRCm38) S229P probably benign Het
Olfr1342 T A 4: 118,690,192 (GRCm38) N87Y probably damaging Het
Olfr1453 C A 19: 13,027,817 (GRCm38) V171L probably benign Het
Olfr31 T A 14: 14,328,774 (GRCm38) L221Q probably damaging Het
Olfr366 T C 2: 37,220,332 (GRCm38) V281A probably damaging Het
Olfr406 C T 11: 74,270,217 (GRCm38) A276V probably damaging Het
Olfr450 G T 6: 42,818,268 (GRCm38) A266S possibly damaging Het
Parp4 T C 14: 56,589,872 (GRCm38) probably benign Het
Pcdhb9 A G 18: 37,402,818 (GRCm38) T622A probably benign Het
Pdpk1 A T 17: 24,098,176 (GRCm38) probably benign Het
Pkhd1 C A 1: 20,347,457 (GRCm38) G2490V probably damaging Het
Plekhg1 G T 10: 3,903,658 (GRCm38) probably null Het
Plekhh2 A G 17: 84,575,189 (GRCm38) Y708C probably damaging Het
Pnp T C 14: 50,950,329 (GRCm38) F107L probably damaging Het
Postn T A 3: 54,385,287 (GRCm38) probably null Het
Prcp A T 7: 92,928,675 (GRCm38) D349V probably damaging Het
Prl3a1 A T 13: 27,270,194 (GRCm38) I52F probably damaging Het
Pym1 G A 10: 128,766,044 (GRCm38) probably benign Het
Rad9a A T 19: 4,197,242 (GRCm38) I248N probably damaging Het
Ror2 T G 13: 53,110,305 (GRCm38) E917A probably benign Het
Rsf1 G A 7: 97,579,910 (GRCm38) probably benign Het
Sema6d A G 2: 124,659,556 (GRCm38) probably null Het
Slc4a2 C T 5: 24,427,620 (GRCm38) A12V probably damaging Het
Slco6b1 T G 1: 96,961,176 (GRCm38) noncoding transcript Het
Slf2 A T 19: 44,935,248 (GRCm38) H167L possibly damaging Het
Snx9 G T 17: 5,920,671 (GRCm38) G429V probably damaging Het
Sod3 G T 5: 52,368,162 (GRCm38) V68L probably benign Het
Spta1 T A 1: 174,246,549 (GRCm38) D2351E probably benign Het
Srpk3 G A X: 73,777,955 (GRCm38) R425Q possibly damaging Het
Tatdn1 C T 15: 58,916,156 (GRCm38) G171E probably damaging Het
Tbc1d22a T C 15: 86,235,569 (GRCm38) V22A possibly damaging Het
Tmem27 A G X: 164,118,234 (GRCm38) D184G possibly damaging Het
Tnfsf9 A G 17: 57,105,738 (GRCm38) T103A probably benign Het
Tpm3-rs7 T C 14: 113,315,163 (GRCm38) L163P possibly damaging Het
Trim52 T A 14: 106,106,967 (GRCm38) C20S probably damaging Het
Ucp1 C T 8: 83,294,032 (GRCm38) T157I probably damaging Het
Uspl1 T A 5: 149,214,414 (GRCm38) L794Q probably benign Het
Vmn1r5 T A 6: 56,985,595 (GRCm38) V85E probably damaging Het
Vmn1r58 A G 7: 5,410,406 (GRCm38) I275T possibly damaging Het
Vmn2r79 A G 7: 87,037,872 (GRCm38) I820M probably damaging Het
Wscd1 C A 11: 71,760,218 (GRCm38) P124T probably benign Het
Zfp780b A T 7: 27,963,100 (GRCm38) C677S possibly 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
R0632:Igf1r UTSW 7 68,165,155 (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
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'- GTGATCACTTGTACTTGGCCAC -3'
(R):5'- TCAGCGCTGAAACACATGC -3'

Sequencing Primer
(F):5'- TTTCAGTCAGAGGGGATGGAG -3'
(R):5'- GCTGAAACACATGCAGCTG -3'
Posted On 2014-06-23