Incidental Mutation 'R1471:Igf1r'
ID 164892
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 039524-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1471 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68003837 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 41 (N41S)
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: N41S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: N41S

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.4%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik C A 13: 60,853,522 (GRCm38) K130N probably damaging Het
Adam6a T A 12: 113,544,393 (GRCm38) S129T probably damaging Het
Adamts10 T A 17: 33,553,138 (GRCm38) F1087I probably damaging Het
Afp T A 5: 90,503,682 (GRCm38) N385K possibly damaging Het
Ahnak T G 19: 9,012,932 (GRCm38) probably benign Het
Akap6 A G 12: 53,141,496 (GRCm38) T1898A probably benign Het
Antxr2 C A 5: 97,975,340 (GRCm38) V283F possibly damaging Het
Asgr1 T C 11: 70,056,093 (GRCm38) V55A possibly damaging Het
Asxl3 A G 18: 22,516,354 (GRCm38) K467E probably damaging Het
Atp5f1a C A 18: 77,781,269 (GRCm38) Q398K probably damaging Het
Atxn2 T A 5: 121,786,374 (GRCm38) D455E probably damaging Het
B4galt6 C T 18: 20,745,353 (GRCm38) A39T possibly damaging Het
C130073F10Rik C T 4: 101,890,338 (GRCm38) E165K probably benign Het
Cabin1 A G 10: 75,694,792 (GRCm38) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm38) R147* probably null Het
Ccdc88b A G 19: 6,854,023 (GRCm38) L517P probably benign Het
Cd109 G A 9: 78,654,587 (GRCm38) V220I probably damaging Het
Cd2ap T C 17: 42,820,597 (GRCm38) K369R probably benign Het
Cd300c A G 11: 114,959,788 (GRCm38) V63A probably benign Het
Cnot10 A G 9: 114,591,551 (GRCm38) V741A probably benign Het
Col18a1 G T 10: 77,096,206 (GRCm38) Q350K unknown Het
Crnkl1 T C 2: 145,932,316 (GRCm38) K76E possibly damaging Het
Cryzl2 A G 1: 157,470,721 (GRCm38) K227E probably benign Het
Cts6 G A 13: 61,196,380 (GRCm38) T286I probably benign Het
Cul1 T C 6: 47,514,886 (GRCm38) V392A probably damaging Het
Dcaf7 T A 11: 106,046,747 (GRCm38) F65L probably benign Het
Dgke A C 11: 89,055,494 (GRCm38) V160G possibly damaging Het
Dock8 C A 19: 25,201,036 (GRCm38) Q2098K possibly damaging Het
Efhb T A 17: 53,399,112 (GRCm38) D799V possibly damaging Het
Ephb2 T C 4: 136,658,951 (GRCm38) D829G probably benign Het
Exosc1 A T 19: 41,924,718 (GRCm38) S117R probably damaging Het
Fga T C 3: 83,028,618 (GRCm38) S51P probably benign Het
Fmn1 T C 2: 113,693,094 (GRCm38) F1141L possibly damaging Het
Foxm1 C T 6: 128,373,874 (GRCm38) L713F probably damaging Het
Galnt4 A G 10: 99,108,674 (GRCm38) E87G probably benign Het
Gamt T C 10: 80,260,858 (GRCm38) D15G probably benign Het
Gm15557 C A 2: 155,942,254 (GRCm38) D154E possibly damaging Het
Gnptab A G 10: 88,445,763 (GRCm38) I1211V probably benign Het
Greb1 A T 12: 16,711,774 (GRCm38) M535K probably damaging Het
Grm8 C A 6: 27,363,309 (GRCm38) A736S possibly damaging Het
Hspa14 T C 2: 3,491,608 (GRCm38) I373M probably benign Het
Ifi207 T A 1: 173,730,063 (GRCm38) T370S unknown Het
Ikzf5 A T 7: 131,391,767 (GRCm38) V224D probably damaging Het
Il10 C A 1: 131,021,373 (GRCm38) Y90* probably null Het
Itga4 A G 2: 79,287,032 (GRCm38) D394G probably benign Het
Kif21a A T 15: 90,956,419 (GRCm38) S1165T probably benign Het
Krtap14 A G 16: 88,825,627 (GRCm38) S155P probably damaging Het
Loxl2 A G 14: 69,693,097 (GRCm38) N770S probably benign Het
Man2b1 A G 8: 85,086,845 (GRCm38) D222G probably damaging Het
Mcub T A 3: 129,915,815 (GRCm38) Y283F probably damaging Het
Meis3 T A 7: 16,177,571 (GRCm38) Y64* probably null Het
Mfsd6 T A 1: 52,709,557 (GRCm38) I50F probably benign Het
Micu2 T C 14: 57,945,397 (GRCm38) T165A probably damaging Het
Mtcl1 T C 17: 66,379,148 (GRCm38) E921G probably damaging Het
Muc5b A T 7: 141,843,234 (GRCm38) N215Y unknown Het
Muc6 A G 7: 141,647,909 (GRCm38) F772L possibly damaging Het
Myt1 A G 2: 181,797,111 (GRCm38) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm38) V479I probably benign Het
Nsun7 A G 5: 66,284,229 (GRCm38) K414E probably benign Het
Nup210l A C 3: 90,170,562 (GRCm38) I914L probably benign Het
Obox3 G A 7: 15,626,950 (GRCm38) P88L probably benign Het
Or10ag57 A G 2: 87,388,518 (GRCm38) Y271C probably damaging Het
Or4f4b T C 2: 111,484,006 (GRCm38) L192P probably damaging Het
Or8h8 C T 2: 86,922,578 (GRCm38) probably null Het
Or8w1 T C 2: 87,635,670 (GRCm38) T26A probably benign Het
Pclo T C 5: 14,680,427 (GRCm38) probably benign Het
Pcsk5 T C 19: 17,568,324 (GRCm38) N745D probably damaging Het
Pdzrn3 T A 6: 101,151,512 (GRCm38) N731I possibly damaging Het
Pkdrej T A 15: 85,817,133 (GRCm38) Q1534L probably benign Het
Pramel28 T C 4: 143,964,953 (GRCm38) N400S probably benign Het
Rell1 T A 5: 63,936,085 (GRCm38) D109V probably damaging Het
Rplp0 C T 5: 115,563,344 (GRCm38) T285I probably damaging Het
Sanbr A T 11: 23,615,222 (GRCm38) M255K probably damaging Het
Sema3g C T 14: 31,228,045 (GRCm38) R728C probably damaging Het
Slc15a2 A G 16: 36,753,791 (GRCm38) Y536H probably damaging Het
Slc26a5 T A 5: 21,816,964 (GRCm38) Y488F probably benign Het
Slc5a4a A T 10: 76,186,528 (GRCm38) S566C probably damaging Het
Spink7 C T 18: 62,596,204 (GRCm38) E21K possibly damaging Het
Src C T 2: 157,457,187 (GRCm38) Q35* probably null Het
Srrm2 T A 17: 23,820,796 (GRCm38) V2234E probably damaging Het
Stk36 A T 1: 74,611,155 (GRCm38) Q282L probably benign Het
Tas2r118 T G 6: 23,969,171 (GRCm38) E297A probably damaging Het
Terf1 A G 1: 15,842,970 (GRCm38) Y385C probably damaging Het
Tmc3 T C 7: 83,598,290 (GRCm38) S198P probably damaging Het
Tmprss11b C T 5: 86,660,496 (GRCm38) R407H possibly damaging Het
Tspyl4 G A 10: 34,298,111 (GRCm38) E200K probably damaging Het
Ttc21a T C 9: 119,942,641 (GRCm38) Y169H probably damaging Het
Ugt2b36 C T 5: 87,092,071 (GRCm38) D152N probably damaging Het
Unk T C 11: 116,049,409 (GRCm38) I196T probably benign Het
Uroc1 T G 6: 90,344,171 (GRCm38) V243G probably damaging Het
Usp34 C A 11: 23,488,862 (GRCm38) Q3475K probably benign Het
Vmn2r117 T A 17: 23,478,473 (GRCm38) I82L probably benign Het
Vmn2r44 A T 7: 8,377,883 (GRCm38) V337E probably damaging Het
Zbtb14 C A 17: 69,388,502 (GRCm38) F398L probably damaging Het
Zfp362 T C 4: 128,787,200 (GRCm38) T111A probably benign Het
Zfp598 T C 17: 24,680,072 (GRCm38) V615A 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
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'- TCTCCCACAGGTCAGTGAGTATGTC -3'
(R):5'- GTAGAAGAGTTTCCAGCCACGGATG -3'

Sequencing Primer
(F):5'- CTGAGTGACAGTAACCAGGTAGC -3'
(R):5'- GCCACGGATGACTGTGAG -3'
Posted On 2014-03-28