Incidental Mutation 'R1789:Igf1r'
ID 201616
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 039820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1789 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 68214933 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 1160 (R1160*)
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: R1160*
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: R1160*

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
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,365,951 (GRCm38) P986L probably damaging Het
Acad10 A T 5: 121,631,393 (GRCm38) Y667N possibly damaging Het
Ahi1 G A 10: 20,963,115 (GRCm38) G121D probably benign Het
Ampd1 T A 3: 103,099,126 (GRCm38) I690N possibly damaging Het
Amy1 C A 3: 113,558,165 (GRCm38) W425L possibly damaging Het
Arhgap27 A T 11: 103,333,005 (GRCm38) V823E probably damaging Het
Arhgef17 A G 7: 100,929,870 (GRCm38) S624P probably damaging Het
Arid5b T C 10: 68,186,067 (GRCm38) H231R probably damaging Het
Aspscr1 C A 11: 120,688,560 (GRCm38) T78N probably damaging Het
Auts2 T A 5: 131,472,450 (GRCm38) T42S probably damaging Het
Ccdc171 A G 4: 83,554,808 (GRCm38) D158G probably damaging Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Cfap61 T C 2: 145,939,993 (GRCm38) probably null Het
Chrna5 T C 9: 55,004,651 (GRCm38) V245A possibly damaging Het
Cntnap5c G A 17: 58,013,921 (GRCm38) G163R probably damaging Het
Col5a2 A G 1: 45,378,305 (GRCm38) probably null Het
Col5a2 T C 1: 45,394,776 (GRCm38) Q759R probably damaging Het
Comp A G 8: 70,377,146 (GRCm38) D340G probably benign Het
Cyfip1 T A 7: 55,926,395 (GRCm38) D1104E probably damaging Het
Dnah11 A T 12: 118,038,780 (GRCm38) S308T probably damaging Het
Dnah5 A G 15: 28,270,426 (GRCm38) H958R probably benign Het
Elp3 A G 14: 65,547,919 (GRCm38) Y478H probably damaging Het
Fat3 T C 9: 16,376,985 (GRCm38) Y414C probably benign Het
Fbxo10 C A 4: 45,046,389 (GRCm38) A574S probably damaging Het
Fsip2 G T 2: 82,977,562 (GRCm38) L1408F probably benign Het
Fubp3 T C 2: 31,611,735 (GRCm38) V425A possibly damaging Het
Gm7168 A T 17: 13,949,584 (GRCm38) R404S probably benign Het
Gm8773 A T 5: 5,575,652 (GRCm38) Q116L possibly damaging Het
Gpd1 T G 15: 99,723,202 (GRCm38) F299C probably damaging Het
Gpr137 C T 19: 6,942,057 (GRCm38) probably benign Het
Grin3b T C 10: 79,973,408 (GRCm38) S331P probably benign Het
Grk3 T A 5: 112,941,718 (GRCm38) I281F probably damaging Het
Hoxb7 T A 11: 96,286,781 (GRCm38) S18R probably damaging Het
Itfg1 A G 8: 85,725,512 (GRCm38) probably null Het
Itgb8 T C 12: 119,202,455 (GRCm38) I114V probably benign Het
Kcnk1 A G 8: 126,025,384 (GRCm38) E243G possibly damaging Het
Kif27 A G 13: 58,344,008 (GRCm38) L439P probably damaging Het
Kif2c T A 4: 117,167,361 (GRCm38) Q279L probably benign Het
Kmt2d A T 15: 98,852,074 (GRCm38) probably benign Het
L3mbtl1 A G 2: 162,974,502 (GRCm38) T821A probably benign Het
Lrrc24 A T 15: 76,722,578 (GRCm38) M206K probably benign Het
Mamdc4 T G 2: 25,567,622 (GRCm38) K460Q possibly damaging Het
Maml2 C G 9: 13,697,345 (GRCm38) L30V probably damaging Het
Mc5r C G 18: 68,338,670 (GRCm38) probably null Het
Myo10 T G 15: 25,726,525 (GRCm38) probably null Het
Myo1e T A 9: 70,338,784 (GRCm38) L419Q probably damaging Het
Myo6 C A 9: 80,300,572 (GRCm38) H1115Q probably damaging Het
Myo7a A G 7: 98,107,095 (GRCm38) V10A probably damaging Het
Myoz2 C T 3: 123,026,127 (GRCm38) R61H probably damaging Het
Ncdn G A 4: 126,752,003 (GRCm38) R38C probably damaging Het
Nckap1 T A 2: 80,520,556 (GRCm38) T736S probably benign Het
Ncor2 G A 5: 125,019,890 (GRCm38) A2325V probably damaging Het
Nid2 T A 14: 19,752,431 (GRCm38) V140E possibly damaging Het
Nlrp9c C A 7: 26,380,490 (GRCm38) D704Y probably benign Het
Notch3 T A 17: 32,158,725 (GRCm38) S126C probably damaging Het
Olfr1128 A T 2: 87,544,983 (GRCm38) L187H probably damaging Het
Olfr130 T C 17: 38,067,948 (GRCm38) I259T probably damaging Het
Olfr215 A C 6: 116,582,697 (GRCm38) F83C probably damaging Het
Olfr484 A G 7: 108,124,915 (GRCm38) F116S probably benign Het
Olfr804 T C 10: 129,705,607 (GRCm38) M243T possibly damaging Het
Olfr818 A T 10: 129,945,582 (GRCm38) L160* probably null Het
Pdzd7 A G 19: 45,039,228 (GRCm38) I269T probably damaging Het
Phf3 A T 1: 30,806,206 (GRCm38) D1299E probably damaging Het
Pitx2 T A 3: 129,218,754 (GRCm38) Y271N probably damaging Het
Polk T C 13: 96,496,632 (GRCm38) E301G probably damaging Het
Prkdc C A 16: 15,739,524 (GRCm38) N2230K probably damaging Het
Prlr A G 15: 10,322,536 (GRCm38) E170G probably benign Het
Prss55 A G 14: 64,075,730 (GRCm38) I235T probably damaging Het
Psd3 T C 8: 67,960,565 (GRCm38) I724V probably benign Het
Rabep2 A G 7: 126,438,799 (GRCm38) T248A possibly damaging Het
Rbm26 T A 14: 105,117,073 (GRCm38) K949N probably benign Het
Rnf213 T A 11: 119,440,221 (GRCm38) D2085E probably damaging Het
Serpinb7 A T 1: 107,450,273 (GRCm38) H232L possibly damaging Het
Slu7 A G 11: 43,445,242 (GRCm38) Q484R probably benign Het
Smg1 A G 7: 118,145,798 (GRCm38) S3044P possibly damaging Het
Snrnp48 A G 13: 38,221,360 (GRCm38) D248G possibly damaging Het
Snrpc C A 17: 27,845,219 (GRCm38) P66Q unknown Het
Snrpn T A 7: 59,983,459 (GRCm38) probably benign Het
Spag17 T A 3: 99,939,356 (GRCm38) S65R possibly damaging Het
Srsf6 C A 2: 162,934,488 (GRCm38) probably benign Het
Stil T A 4: 115,041,782 (GRCm38) M1203K probably benign Het
Syt17 T C 7: 118,436,838 (GRCm38) T106A probably benign Het
Tbx15 C T 3: 99,352,246 (GRCm38) Q478* probably null Het
Tg A T 15: 66,737,548 (GRCm38) Q319L probably benign Het
Thada A G 17: 84,448,033 (GRCm38) L243P probably damaging Het
Thada G T 17: 84,448,034 (GRCm38) L243I probably damaging Het
Tnnt3 A G 7: 142,512,364 (GRCm38) R211G probably damaging Het
Togaram1 A T 12: 65,002,635 (GRCm38) Q1282L possibly damaging Het
Tpm3-rs7 T G 14: 113,314,947 (GRCm38) M91R probably damaging Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Ttll7 T G 3: 146,915,780 (GRCm38) L378R probably damaging Het
Tyw1 T G 5: 130,258,993 (GRCm38) I22R probably damaging Het
Ubr3 T C 2: 70,016,367 (GRCm38) S1645P possibly damaging Het
Ubr4 T C 4: 139,393,053 (GRCm38) L263P probably damaging Het
Unc13c T C 9: 73,756,339 (GRCm38) E1071G possibly damaging Het
Vmn2r44 G T 7: 8,380,123 (GRCm38) D157E possibly damaging Het
Vps16 C T 2: 130,443,600 (GRCm38) T821I probably benign Het
Washc4 T C 10: 83,579,525 (GRCm38) V793A possibly damaging Het
Wdr35 G T 12: 8,977,435 (GRCm38) probably null Het
Zfp277 A G 12: 40,364,085 (GRCm38) F254L probably benign 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
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'- CTTAAAGGAGCCTGATGAAGACC -3'
(R):5'- AACTCAAGGCTGGCAGTTGG -3'

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