Incidental Mutation 'R5254:Igf1r'
ID 399346
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 042825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5254 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 68207319 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 1010 (S1010T)
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: S1010T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: S1010T

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: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 98% (82/84)
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
Abhd8 G T 8: 71,458,398 (GRCm38) C296* probably null Het
Adam11 T A 11: 102,774,272 (GRCm38) Y413* probably null Het
Ankhd1 A G 18: 36,656,715 (GRCm38) I907V probably benign Het
Arrdc5 A G 17: 56,297,897 (GRCm38) I130T probably benign Het
Asic5 T A 3: 82,020,987 (GRCm38) I419K probably damaging Het
Atp4a A T 7: 30,715,530 (GRCm38) E248V probably damaging Het
Avil C A 10: 127,011,761 (GRCm38) V154L probably benign Het
Bclaf1 T A 10: 20,323,536 (GRCm38) H226Q possibly damaging Het
Cald1 A G 6: 34,746,416 (GRCm38) probably benign Het
Cd200r4 A C 16: 44,832,090 (GRCm38) D27A possibly damaging Het
Cdsn T A 17: 35,552,202 (GRCm38) M1K probably null Het
Cfap46 T A 7: 139,678,514 (GRCm38) H281L possibly damaging Het
Chaf1a T C 17: 56,062,606 (GRCm38) F533L probably benign Het
Chil4 T A 3: 106,219,452 (GRCm38) I5F probably benign Het
Ctu2 A T 8: 122,476,588 (GRCm38) R48W probably damaging Het
Daam1 A T 12: 71,946,576 (GRCm38) H373L unknown Het
Dcaf10 T A 4: 45,370,415 (GRCm38) Y328N possibly damaging Het
Dst A T 1: 34,177,931 (GRCm38) K1151* probably null Het
Ect2 T C 3: 27,130,070 (GRCm38) D503G probably damaging Het
Epm2a C A 10: 11,457,345 (GRCm38) D307E probably benign Het
Exph5 A T 9: 53,337,930 (GRCm38) D73V probably damaging Het
Fam20b C T 1: 156,705,740 (GRCm38) G102D probably damaging Het
Fat2 T C 11: 55,281,175 (GRCm38) N2904S probably damaging Het
Flt3 T A 5: 147,375,690 (GRCm38) Q147L possibly damaging Het
Fndc11 A G 2: 181,222,163 (GRCm38) T254A possibly damaging Het
Galnt15 C T 14: 32,058,287 (GRCm38) R514* probably null Het
Gbgt1 A G 2: 28,505,208 (GRCm38) D286G probably damaging Het
Ggt1 T A 10: 75,579,198 (GRCm38) probably null Het
Gm26526 A T 7: 39,589,234 (GRCm38) noncoding transcript Het
H2-K1 T C 17: 33,997,462 (GRCm38) T237A probably damaging Het
Il21 T C 3: 37,227,735 (GRCm38) T87A possibly damaging Het
Kmt2b G A 7: 30,569,175 (GRCm38) R2010C probably damaging Het
Kmt2c G A 5: 25,314,594 (GRCm38) P2173S probably benign Het
Krt1 A T 15: 101,846,368 (GRCm38) S512T unknown Het
Krtap16-1 G A 11: 99,985,598 (GRCm38) R327* probably null Het
Lama1 T A 17: 67,756,716 (GRCm38) I745N probably benign Het
Lrrk1 T A 7: 66,307,107 (GRCm38) N372I probably benign Het
Lyst A T 13: 13,683,070 (GRCm38) E2481D probably benign Het
Map2k1 A T 9: 64,187,745 (GRCm38) probably benign Het
Mbip A G 12: 56,337,443 (GRCm38) V215A probably damaging Het
Mdc1 T A 17: 35,847,922 (GRCm38) V398D probably benign Het
Mog T G 17: 37,012,372 (GRCm38) I225L probably benign Het
Mrgprx3-ps T A 7: 47,309,436 (GRCm38) noncoding transcript Het
Muc5b C T 7: 141,864,540 (GRCm38) S3741L probably benign Het
Myo5a A T 9: 75,130,120 (GRCm38) I202F probably damaging Het
Myo5b A T 18: 74,700,606 (GRCm38) I818F possibly damaging Het
Nfia T A 4: 98,014,297 (GRCm38) M262K probably damaging Het
Nisch C T 14: 31,206,567 (GRCm38) probably null Het
Nkd1 A G 8: 88,589,194 (GRCm38) D64G probably damaging Het
Nt5c2 T A 19: 46,893,560 (GRCm38) K284* probably null Het
Olfr1052 A T 2: 86,297,921 (GRCm38) Y35F probably damaging Het
Olfr1058 A T 2: 86,386,140 (GRCm38) S93T possibly damaging Het
Olfr262 A G 19: 12,241,248 (GRCm38) S138P probably damaging Het
Olfr305 A T 7: 86,364,190 (GRCm38) V49E possibly damaging Het
Olfr619 T G 7: 103,603,789 (GRCm38) I45R probably benign Het
Olfr723 A T 14: 49,928,779 (GRCm38) I255N probably damaging Het
Olfr725 C A 14: 50,034,678 (GRCm38) A242S possibly damaging Het
Olfr972 A T 9: 39,873,445 (GRCm38) T57S possibly damaging Het
Pcdhb17 A T 18: 37,486,825 (GRCm38) D556V probably damaging Het
Pcdhga8 A T 18: 37,726,620 (GRCm38) D243V probably benign Het
Polq A T 16: 37,089,319 (GRCm38) Q2355L probably damaging Het
Slc22a30 G A 19: 8,344,393 (GRCm38) Q436* probably null Het
Slc5a4a C A 10: 76,182,738 (GRCm38) Y506* probably null Het
Sp110 G C 1: 85,577,202 (GRCm38) probably benign Het
Tarbp1 G A 8: 126,467,156 (GRCm38) H336Y probably damaging Het
Tas2r134 T G 2: 51,627,547 (GRCm38) F13V probably benign Het
Tgfb2 A G 1: 186,704,483 (GRCm38) Y98H probably damaging Het
Tmprss11a C A 5: 86,411,806 (GRCm38) V376L probably damaging Het
Tmprss11f T A 5: 86,538,033 (GRCm38) K158N probably benign Het
Tnip2 G T 5: 34,503,578 (GRCm38) Q177K probably damaging Het
Trp53inp1 T A 4: 11,165,075 (GRCm38) probably null Het
Ttc28 C T 5: 111,271,238 (GRCm38) P1398S probably benign Het
Umodl1 T G 17: 30,980,359 (GRCm38) I308S possibly damaging Het
Vcan A T 13: 89,691,600 (GRCm38) S1942T probably damaging Het
Vmn2r124 T A 17: 18,063,077 (GRCm38) N344K probably benign Het
Vmn2r25 C G 6: 123,825,318 (GRCm38) C542S probably damaging Het
Wiz T A 17: 32,378,496 (GRCm38) probably benign Het
Wrap73 A G 4: 154,155,346 (GRCm38) Y343C 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
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
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'- ATTGAGTACCCGTGCTGGAC -3'
(R):5'- CATACAGGGTGGTCCTTTCTG -3'

Sequencing Primer
(F):5'- TACCCGTGCTGGACTGTTTGTAC -3'
(R):5'- AGGGTGGTCCTTTCTGTCCATAC -3'
Posted On 2016-07-06