Incidental Mutation 'R6189:Igf1r'
ID 502383
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 044329-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6189 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 68207336 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 1015 (Y1015*)
Ref Sequence ENSEMBL: ENSMUSP00000005671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005671]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000005671
AA Change: Y1015*
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: Y1015*

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: ENSMUST00000208731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208871
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 97% (74/76)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,167,054 (GRCm38) probably benign Het
Abca8a T C 11: 110,030,884 (GRCm38) D1448G probably damaging Het
Actn2 C T 13: 12,276,440 (GRCm38) D693N probably damaging Het
Adam3 A C 8: 24,711,336 (GRCm38) I267R probably benign Het
Akap2 A G 4: 57,855,928 (GRCm38) E419G probably benign Het
Aldh1l2 A G 10: 83,508,013 (GRCm38) probably null Het
C4bp T C 1: 130,636,819 (GRCm38) Y376C probably damaging Het
Cacna1h A G 17: 25,397,844 (GRCm38) W101R probably damaging Het
Ccdc84 G A 9: 44,410,321 (GRCm38) R328C probably benign Het
Ccdc97 T A 7: 25,716,098 (GRCm38) T47S probably benign Het
Cnot6l G A 5: 96,098,277 (GRCm38) T171I probably benign Het
Cntnap2 T A 6: 47,271,298 (GRCm38) S1213T probably damaging Het
Cxcl10 A T 5: 92,348,113 (GRCm38) L55Q probably benign Het
Cyp1a1 T C 9: 57,700,683 (GRCm38) V198A probably damaging Het
Dclre1b A G 3: 103,803,533 (GRCm38) V354A probably damaging Het
Dmxl1 C T 18: 49,893,335 (GRCm38) H1837Y probably benign Het
Dnajc13 G C 9: 104,213,886 (GRCm38) D665E probably benign Het
Dnmbp T C 19: 43,890,309 (GRCm38) T108A probably benign Het
Dnmbp T A 19: 43,901,511 (GRCm38) T606S probably benign Het
Dok5 T A 2: 170,800,851 (GRCm38) I23N probably damaging Het
Eml2 G A 7: 19,201,163 (GRCm38) V432I probably damaging Het
Epha5 A T 5: 84,237,540 (GRCm38) F311I probably damaging Het
Erbb4 T A 1: 68,043,916 (GRCm38) M1059L probably benign Het
Fbxo40 A G 16: 36,966,164 (GRCm38) I681T probably benign Het
Flg2 T A 3: 93,220,074 (GRCm38) C2098S unknown Het
Gm10471 A G 5: 26,085,693 (GRCm38) I160T probably benign Het
Gm11397 A T 13: 33,404,444 (GRCm38) E337D probably benign Het
Gpr87 T A 3: 59,179,229 (GRCm38) D285V probably damaging Het
Hrh1 T A 6: 114,479,998 (GRCm38) V80D probably damaging Het
Hunk G A 16: 90,487,881 (GRCm38) R351K probably benign Het
Ifna12 A G 4: 88,603,011 (GRCm38) W100R probably damaging Het
Ift57 G A 16: 49,763,813 (GRCm38) G310S probably damaging Het
Igkv14-130 T C 6: 67,791,448 (GRCm38) I96T probably damaging Het
Il34 C T 8: 110,742,718 (GRCm38) S155N probably benign Het
Itga7 T C 10: 128,950,403 (GRCm38) S938P possibly damaging Het
Itgam A G 7: 128,112,504 (GRCm38) M764V probably benign Het
Lao1 T A 4: 118,967,880 (GRCm38) M299K probably benign Het
Lnpep A T 17: 17,566,739 (GRCm38) S533T possibly damaging Het
Lrp4 T C 2: 91,475,234 (GRCm38) V283A possibly damaging Het
Magi3 G T 3: 104,050,865 (GRCm38) H635N probably damaging Het
Mecr A T 4: 131,865,254 (GRCm38) probably null Het
Mgrn1 T C 16: 4,910,810 (GRCm38) probably null Het
Micalcl A C 7: 112,412,880 (GRCm38) N646H probably damaging Het
Mymk C T 2: 27,067,365 (GRCm38) V39I possibly damaging Het
Nav3 T C 10: 109,720,019 (GRCm38) S1684G probably damaging Het
Ntn5 A T 7: 45,693,220 (GRCm38) D330V probably benign Het
Nupl2 G T 5: 24,175,454 (GRCm38) G149V probably damaging Het
Nutm2 T A 13: 50,469,738 (GRCm38) V157D possibly damaging Het
Obscn T C 11: 59,069,934 (GRCm38) I3460V probably benign Het
Olfr1037 A T 2: 86,084,913 (GRCm38) M288K possibly damaging Het
Pcdh15 C T 10: 74,342,651 (GRCm38) A580V probably null Het
Pcdhb10 T A 18: 37,412,403 (GRCm38) H177Q probably damaging Het
Pitx2 T C 3: 129,218,469 (GRCm38) Y130H probably damaging Het
Pmch G T 10: 88,091,386 (GRCm38) probably null Het
Pofut2 T A 10: 77,268,586 (GRCm38) I399N probably damaging Het
Prr36 C A 8: 4,214,177 (GRCm38) probably benign Het
Ptprq C A 10: 107,517,887 (GRCm38) C2256F probably damaging Het
Rassf5 G A 1: 131,244,979 (GRCm38) A51V probably damaging Het
Retnla A G 16: 48,842,895 (GRCm38) I54V probably benign Het
Rimbp2 A G 5: 128,803,897 (GRCm38) L142P probably benign Het
Ripk1 A G 13: 34,032,501 (GRCm38) T564A probably benign Het
Robo4 G A 9: 37,403,533 (GRCm38) E228K probably benign Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,579,906 (GRCm38) probably benign Homo
Rusc1 A T 3: 89,089,012 (GRCm38) L132Q probably damaging Het
Setd1a T C 7: 127,778,283 (GRCm38) probably null Het
Slc38a6 A T 12: 73,310,196 (GRCm38) K122M probably damaging Het
Susd5 A T 9: 114,095,658 (GRCm38) D203V probably damaging Het
Trip4 G A 9: 65,879,152 (GRCm38) R110* probably null Het
Tuba4a T A 1: 75,216,874 (GRCm38) I95F probably benign Het
Ube2q2 T A 9: 55,162,983 (GRCm38) S70T probably benign Het
Umodl1 A G 17: 30,996,282 (GRCm38) I1027V possibly damaging Het
Unc80 G A 1: 66,677,471 (GRCm38) V2917I probably benign Het
Vmn1r70 T A 7: 10,633,671 (GRCm38) C29S probably benign Het
Vmn2r94 A T 17: 18,257,734 (GRCm38) D138E probably benign Het
Wee2 C T 6: 40,449,683 (GRCm38) H129Y probably damaging Het
Zfp318 TGAAGAAGAAGAAGAAGAAGAAGAAGAAG TGAAGAAGAAGAAGAAGAAGAAG 17: 46,412,514 (GRCm38) probably benign Het
Zfp872 A T 9: 22,197,131 (GRCm38) D42V probably benign Het
Zic5 T G 14: 122,464,974 (GRCm38) D115A unknown 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
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
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'- GAGATTGAGTACCCGTGCTG -3'
(R):5'- ACAGGGTGGTCCTTTCTGTC -3'

Sequencing Primer
(F):5'- ATTGAGTACCCGTGCTGGACTG -3'
(R):5'- AGGGTGGTCCTTTCTGTCCATAC -3'
Posted On 2018-02-27