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 IGF-1R, line 186, A330103N21Rik, hyft, CD221
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 67602575-67883416 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 67653585 bp (GRCm39)
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: 61,001,336 (GRCm39) K130N probably damaging Het
Adam6a T A 12: 113,508,013 (GRCm39) S129T probably damaging Het
Adamts10 T A 17: 33,772,112 (GRCm39) F1087I probably damaging Het
Afp T A 5: 90,651,541 (GRCm39) N385K possibly damaging Het
Ahnak T G 19: 8,990,296 (GRCm39) probably benign Het
Akap6 A G 12: 53,188,279 (GRCm39) T1898A probably benign Het
Antxr2 C A 5: 98,123,199 (GRCm39) V283F possibly damaging Het
Asgr1 T C 11: 69,946,919 (GRCm39) V55A possibly damaging Het
Asxl3 A G 18: 22,649,411 (GRCm39) K467E probably damaging Het
Atp5f1a C A 18: 77,868,969 (GRCm39) Q398K probably damaging Het
Atxn2 T A 5: 121,924,437 (GRCm39) D455E probably damaging Het
B4galt6 C T 18: 20,878,410 (GRCm39) A39T possibly damaging Het
C130073F10Rik C T 4: 101,747,535 (GRCm39) E165K probably benign Het
Cabin1 A G 10: 75,530,626 (GRCm39) C1519R probably damaging Het
Casp8ap2 C T 4: 32,639,386 (GRCm39) R147* probably null Het
Ccdc88b A G 19: 6,831,391 (GRCm39) L517P probably benign Het
Cd109 G A 9: 78,561,869 (GRCm39) V220I probably damaging Het
Cd2ap T C 17: 43,131,488 (GRCm39) K369R probably benign Het
Cd300c A G 11: 114,850,614 (GRCm39) V63A probably benign Het
Cnot10 A G 9: 114,420,619 (GRCm39) V741A probably benign Het
Col18a1 G T 10: 76,932,040 (GRCm39) Q350K unknown Het
Crnkl1 T C 2: 145,774,236 (GRCm39) K76E possibly damaging Het
Cryzl2 A G 1: 157,298,291 (GRCm39) K227E probably benign Het
Cts6 G A 13: 61,344,194 (GRCm39) T286I probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Dcaf7 T A 11: 105,937,573 (GRCm39) F65L probably benign Het
Dgke A C 11: 88,946,320 (GRCm39) V160G possibly damaging Het
Dock8 C A 19: 25,178,400 (GRCm39) Q2098K possibly damaging Het
Efhb T A 17: 53,706,140 (GRCm39) D799V possibly damaging Het
Ephb2 T C 4: 136,386,262 (GRCm39) D829G probably benign Het
Exosc1 A T 19: 41,913,157 (GRCm39) S117R probably damaging Het
Fga T C 3: 82,935,925 (GRCm39) S51P probably benign Het
Fmn1 T C 2: 113,523,439 (GRCm39) F1141L possibly damaging Het
Foxm1 C T 6: 128,350,837 (GRCm39) L713F probably damaging Het
Galnt4 A G 10: 98,944,536 (GRCm39) E87G probably benign Het
Gamt T C 10: 80,096,692 (GRCm39) D15G probably benign Het
Gm15557 C A 2: 155,784,174 (GRCm39) D154E possibly damaging Het
Gnptab A G 10: 88,281,625 (GRCm39) I1211V probably benign Het
Greb1 A T 12: 16,761,775 (GRCm39) M535K probably damaging Het
Grm8 C A 6: 27,363,308 (GRCm39) A736S possibly damaging Het
Hspa14 T C 2: 3,492,645 (GRCm39) I373M probably benign Het
Ifi207 T A 1: 173,557,629 (GRCm39) T370S unknown Het
Ikzf5 A T 7: 130,993,496 (GRCm39) V224D probably damaging Het
Il10 C A 1: 130,949,110 (GRCm39) Y90* probably null Het
Itga4 A G 2: 79,117,376 (GRCm39) D394G probably benign Het
Kif21a A T 15: 90,840,622 (GRCm39) S1165T probably benign Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Loxl2 A G 14: 69,930,546 (GRCm39) N770S probably benign Het
Man2b1 A G 8: 85,813,474 (GRCm39) D222G probably damaging Het
Mcub T A 3: 129,709,464 (GRCm39) Y283F probably damaging Het
Meis3 T A 7: 15,911,496 (GRCm39) Y64* probably null Het
Mfsd6 T A 1: 52,748,716 (GRCm39) I50F probably benign Het
Micu2 T C 14: 58,182,854 (GRCm39) T165A probably damaging Het
Mtcl1 T C 17: 66,686,143 (GRCm39) E921G probably damaging Het
Muc5b A T 7: 141,396,971 (GRCm39) N215Y unknown Het
Muc6 A G 7: 141,234,176 (GRCm39) F772L possibly damaging Het
Myt1 A G 2: 181,438,904 (GRCm39) D142G probably benign Het
Nol6 C T 4: 41,120,281 (GRCm39) V479I probably benign Het
Nsun7 A G 5: 66,441,572 (GRCm39) K414E probably benign Het
Nup210l A C 3: 90,077,869 (GRCm39) I914L probably benign Het
Obox3 G A 7: 15,360,875 (GRCm39) P88L probably benign Het
Or10ag57 A G 2: 87,218,862 (GRCm39) Y271C probably damaging Het
Or4f4b T C 2: 111,314,351 (GRCm39) L192P probably damaging Het
Or8h8 C T 2: 86,752,922 (GRCm39) probably null Het
Or8w1 T C 2: 87,466,014 (GRCm39) T26A probably benign Het
Pclo T C 5: 14,730,441 (GRCm39) probably benign Het
Pcsk5 T C 19: 17,545,688 (GRCm39) N745D probably damaging Het
Pdzrn3 T A 6: 101,128,473 (GRCm39) N731I possibly damaging Het
Pkdrej T A 15: 85,701,334 (GRCm39) Q1534L probably benign Het
Pramel28 T C 4: 143,691,523 (GRCm39) N400S probably benign Het
Rell1 T A 5: 64,093,428 (GRCm39) D109V probably damaging Het
Rplp0 C T 5: 115,701,403 (GRCm39) T285I probably damaging Het
Sanbr A T 11: 23,565,222 (GRCm39) M255K probably damaging Het
Sema3g C T 14: 30,950,002 (GRCm39) R728C probably damaging Het
Slc15a2 A G 16: 36,574,153 (GRCm39) Y536H probably damaging Het
Slc26a5 T A 5: 22,021,962 (GRCm39) Y488F probably benign Het
Slc5a4a A T 10: 76,022,362 (GRCm39) S566C probably damaging Het
Spink7 C T 18: 62,729,275 (GRCm39) E21K possibly damaging Het
Src C T 2: 157,299,107 (GRCm39) Q35* probably null Het
Srrm2 T A 17: 24,039,770 (GRCm39) V2234E probably damaging Het
Stk36 A T 1: 74,650,314 (GRCm39) Q282L probably benign Het
Tas2r118 T G 6: 23,969,170 (GRCm39) E297A probably damaging Het
Terf1 A G 1: 15,913,194 (GRCm39) Y385C probably damaging Het
Tmc3 T C 7: 83,247,498 (GRCm39) S198P probably damaging Het
Tmprss11b C T 5: 86,808,355 (GRCm39) R407H possibly damaging Het
Tspyl4 G A 10: 34,174,107 (GRCm39) E200K probably damaging Het
Ttc21a T C 9: 119,771,707 (GRCm39) Y169H probably damaging Het
Ugt2b36 C T 5: 87,239,930 (GRCm39) D152N probably damaging Het
Unk T C 11: 115,940,235 (GRCm39) I196T probably benign Het
Uroc1 T G 6: 90,321,153 (GRCm39) V243G probably damaging Het
Usp34 C A 11: 23,438,862 (GRCm39) Q3475K probably benign Het
Vmn2r117 T A 17: 23,697,447 (GRCm39) I82L probably benign Het
Vmn2r44 A T 7: 8,380,882 (GRCm39) V337E probably damaging Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp362 T C 4: 128,680,993 (GRCm39) T111A probably benign Het
Zfp598 T C 17: 24,899,046 (GRCm39) V615A probably benign Het
Other mutations in Igf1r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Igf1r APN 7 67,839,771 (GRCm39) missense probably benign
IGL00837:Igf1r APN 7 67,851,100 (GRCm39) splice site probably benign
IGL01515:Igf1r APN 7 67,857,200 (GRCm39) missense probably damaging 1.00
IGL01572:Igf1r APN 7 67,843,189 (GRCm39) missense probably benign 0.01
IGL02100:Igf1r APN 7 67,839,706 (GRCm39) missense probably benign 0.05
IGL02506:Igf1r APN 7 67,843,144 (GRCm39) missense probably benign
IGL02672:Igf1r APN 7 67,839,781 (GRCm39) missense probably benign 0.05
IGL02701:Igf1r APN 7 67,850,997 (GRCm39) missense possibly damaging 0.93
IGL02742:Igf1r APN 7 67,839,739 (GRCm39) missense possibly damaging 0.94
IGL03073:Igf1r APN 7 67,864,791 (GRCm39) missense probably damaging 1.00
IGL03257:Igf1r APN 7 67,864,688 (GRCm39) missense probably damaging 1.00
Frufru UTSW 7 67,653,911 (GRCm39) missense probably damaging 1.00
Hungarian UTSW 7 67,864,745 (GRCm39) missense probably damaging 1.00
Mimi UTSW 7 67,844,774 (GRCm39) missense possibly damaging 0.67
Piroshka UTSW 7 67,857,084 (GRCm39) nonsense probably null
Romanian UTSW 7 67,653,885 (GRCm39) missense possibly damaging 0.94
Sublime UTSW 7 67,653,927 (GRCm39) missense probably damaging 1.00
Toy UTSW 7 67,653,720 (GRCm39) missense probably damaging 1.00
BB009:Igf1r UTSW 7 67,861,802 (GRCm39) missense possibly damaging 0.88
BB019:Igf1r UTSW 7 67,861,802 (GRCm39) missense possibly damaging 0.88
FR4548:Igf1r UTSW 7 67,875,934 (GRCm39) small insertion probably benign
FR4737:Igf1r UTSW 7 67,875,929 (GRCm39) small insertion probably benign
FR4976:Igf1r UTSW 7 67,875,934 (GRCm39) small insertion probably benign
FR4976:Igf1r UTSW 7 67,875,929 (GRCm39) small insertion probably benign
PIT4445001:Igf1r UTSW 7 67,857,211 (GRCm39) missense probably damaging 1.00
R0003:Igf1r UTSW 7 67,814,990 (GRCm39) missense probably damaging 1.00
R0184:Igf1r UTSW 7 67,875,941 (GRCm39) missense possibly damaging 0.84
R0538:Igf1r UTSW 7 67,857,574 (GRCm39) missense probably damaging 1.00
R0632:Igf1r UTSW 7 67,814,903 (GRCm39) missense probably damaging 1.00
R0727:Igf1r UTSW 7 67,861,906 (GRCm39) critical splice donor site probably null
R0750:Igf1r UTSW 7 67,861,839 (GRCm39) missense probably damaging 0.99
R1104:Igf1r UTSW 7 67,844,774 (GRCm39) missense possibly damaging 0.67
R1169:Igf1r UTSW 7 67,814,875 (GRCm39) missense probably benign 0.00
R1348:Igf1r UTSW 7 67,868,216 (GRCm39) missense probably damaging 1.00
R1580:Igf1r UTSW 7 67,857,617 (GRCm39) missense probably benign
R1745:Igf1r UTSW 7 67,819,661 (GRCm39) missense probably damaging 1.00
R1772:Igf1r UTSW 7 67,844,822 (GRCm39) missense probably benign 0.03
R1789:Igf1r UTSW 7 67,864,681 (GRCm39) nonsense probably null
R1823:Igf1r UTSW 7 67,844,729 (GRCm39) missense possibly damaging 0.77
R1902:Igf1r UTSW 7 67,850,997 (GRCm39) missense possibly damaging 0.93
R1962:Igf1r UTSW 7 67,857,023 (GRCm39) missense probably damaging 0.99
R2179:Igf1r UTSW 7 67,653,698 (GRCm39) missense probably damaging 0.99
R2215:Igf1r UTSW 7 67,814,982 (GRCm39) missense probably benign
R2221:Igf1r UTSW 7 67,851,710 (GRCm39) missense probably damaging 1.00
R2233:Igf1r UTSW 7 67,861,828 (GRCm39) missense probably damaging 1.00
R2234:Igf1r UTSW 7 67,861,828 (GRCm39) missense probably damaging 1.00
R2235:Igf1r UTSW 7 67,861,828 (GRCm39) missense probably damaging 1.00
R3023:Igf1r UTSW 7 67,833,147 (GRCm39) missense probably benign 0.00
R4044:Igf1r UTSW 7 67,839,810 (GRCm39) missense possibly damaging 0.83
R4226:Igf1r UTSW 7 67,844,826 (GRCm39) nonsense probably null
R4387:Igf1r UTSW 7 67,819,757 (GRCm39) missense probably benign
R4388:Igf1r UTSW 7 67,819,757 (GRCm39) missense probably benign
R4728:Igf1r UTSW 7 67,839,372 (GRCm39) missense probably damaging 1.00
R4781:Igf1r UTSW 7 67,814,947 (GRCm39) missense possibly damaging 0.75
R5254:Igf1r UTSW 7 67,857,067 (GRCm39) missense probably damaging 0.99
R5278:Igf1r UTSW 7 67,843,166 (GRCm39) missense possibly damaging 0.78
R5510:Igf1r UTSW 7 67,843,107 (GRCm39) missense probably benign 0.19
R5522:Igf1r UTSW 7 67,833,258 (GRCm39) missense probably damaging 0.96
R5527:Igf1r UTSW 7 67,857,569 (GRCm39) missense probably damaging 1.00
R5761:Igf1r UTSW 7 67,857,001 (GRCm39) missense probably damaging 1.00
R5849:Igf1r UTSW 7 67,839,781 (GRCm39) missense probably benign
R6189:Igf1r UTSW 7 67,857,084 (GRCm39) nonsense probably null
R6262:Igf1r UTSW 7 67,653,720 (GRCm39) missense probably damaging 1.00
R6285:Igf1r UTSW 7 67,653,885 (GRCm39) missense possibly damaging 0.94
R6318:Igf1r UTSW 7 67,814,981 (GRCm39) missense probably benign 0.02
R6365:Igf1r UTSW 7 67,839,798 (GRCm39) missense probably benign 0.26
R6377:Igf1r UTSW 7 67,850,998 (GRCm39) missense probably benign 0.00
R6831:Igf1r UTSW 7 67,857,067 (GRCm39) missense possibly damaging 0.75
R6848:Igf1r UTSW 7 67,653,927 (GRCm39) missense probably damaging 1.00
R6902:Igf1r UTSW 7 67,653,911 (GRCm39) missense probably damaging 1.00
R7193:Igf1r UTSW 7 67,836,905 (GRCm39) missense probably damaging 1.00
R7373:Igf1r UTSW 7 67,844,826 (GRCm39) nonsense probably null
R7442:Igf1r UTSW 7 67,823,026 (GRCm39) missense probably damaging 1.00
R7903:Igf1r UTSW 7 67,834,500 (GRCm39) missense probably damaging 1.00
R7923:Igf1r UTSW 7 67,839,849 (GRCm39) missense probably damaging 1.00
R7932:Igf1r UTSW 7 67,861,802 (GRCm39) missense possibly damaging 0.88
R8368:Igf1r UTSW 7 67,836,796 (GRCm39) missense probably benign 0.03
R8458:Igf1r UTSW 7 67,845,377 (GRCm39) missense probably benign
R8539:Igf1r UTSW 7 67,653,596 (GRCm39) missense probably benign 0.06
R8704:Igf1r UTSW 7 67,819,802 (GRCm39) splice site probably benign
R8746:Igf1r UTSW 7 67,864,745 (GRCm39) missense probably damaging 1.00
R8829:Igf1r UTSW 7 67,875,769 (GRCm39) missense probably damaging 1.00
R8832:Igf1r UTSW 7 67,875,769 (GRCm39) missense probably damaging 1.00
R8859:Igf1r UTSW 7 67,833,211 (GRCm39) missense possibly damaging 0.75
R9057:Igf1r UTSW 7 67,833,186 (GRCm39) missense probably damaging 1.00
R9243:Igf1r UTSW 7 67,861,775 (GRCm39) missense probably benign 0.11
R9342:Igf1r UTSW 7 67,844,746 (GRCm39) missense probably benign 0.00
R9412:Igf1r UTSW 7 67,857,001 (GRCm39) missense probably damaging 1.00
R9525:Igf1r UTSW 7 67,864,682 (GRCm39) missense probably damaging 1.00
R9727:Igf1r UTSW 7 67,857,554 (GRCm39) missense probably damaging 1.00
R9730:Igf1r UTSW 7 67,839,423 (GRCm39) missense probably damaging 1.00
R9779:Igf1r UTSW 7 67,654,065 (GRCm39) missense probably damaging 1.00
RF025:Igf1r UTSW 7 67,875,927 (GRCm39) small insertion probably benign
RF032:Igf1r UTSW 7 67,875,927 (GRCm39) small insertion probably benign
RF034:Igf1r UTSW 7 67,875,924 (GRCm39) small insertion probably benign
RF037:Igf1r UTSW 7 67,875,924 (GRCm39) small insertion probably benign
RF039:Igf1r UTSW 7 67,875,924 (GRCm39) small insertion probably benign
RF044:Igf1r UTSW 7 67,875,927 (GRCm39) small insertion probably benign
Z1186:Igf1r UTSW 7 67,875,916 (GRCm39) small insertion probably benign
Z1186:Igf1r UTSW 7 67,875,930 (GRCm39) small insertion probably benign
Z1186:Igf1r UTSW 7 67,875,928 (GRCm39) small insertion probably benign
Z1186:Igf1r UTSW 7 67,875,922 (GRCm39) small insertion probably benign
Z1186:Igf1r UTSW 7 67,875,917 (GRCm39) small insertion probably benign
Z1191:Igf1r UTSW 7 67,875,918 (GRCm39) small insertion probably benign
Z1191:Igf1r UTSW 7 67,875,917 (GRCm39) small insertion probably benign
Z1191:Igf1r UTSW 7 67,875,921 (GRCm39) 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