Incidental Mutation 'PIT4445001:Igf1r'
ID 555410
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4445001 (G1)
Quality Score 158.009
Status Not validated
Chromosome 7
Chromosomal Location 67952827-68233668 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 68207463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1058 (F1058L)
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: F1058L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005671
Gene: ENSMUSG00000005533
AA Change: F1058L

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: 93.5%
  • 3x: 90.8%
  • 10x: 84.5%
  • 20x: 70.9%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 110,075,551 (GRCm38) K419E probably damaging Het
Adam7 T A 14: 68,509,748 (GRCm38) K587N possibly damaging Het
Agl T C 3: 116,771,460 (GRCm38) M382V Het
Agpat3 A T 10: 78,274,093 (GRCm38) F341I possibly damaging Het
Ampd2 A T 3: 108,075,012 (GRCm38) L767Q probably damaging Het
Arhgap28 A T 17: 67,896,235 (GRCm38) D124E possibly damaging Het
Arhgap32 T C 9: 32,260,856 (GRCm38) L1644P probably damaging Het
Asic4 T C 1: 75,451,127 (GRCm38) V99A probably benign Het
Asns T A 6: 7,689,277 (GRCm38) N75I probably damaging Het
Atp10a A G 7: 58,803,467 (GRCm38) D798G probably damaging Het
Atp8a1 A G 5: 67,622,660 (GRCm38) V1145A Het
BC017158 A G 7: 128,276,534 (GRCm38) V243A probably benign Het
Ccdc171 A G 4: 83,661,747 (GRCm38) Q577R probably damaging Het
Cd247 T A 1: 165,861,036 (GRCm38) D154E probably damaging Het
Ceacam1 A T 7: 25,476,456 (GRCm38) N104K probably damaging Het
Chfr A G 5: 110,151,677 (GRCm38) D312G possibly damaging Het
Ddb1 C A 19: 10,625,970 (GRCm38) L881I probably damaging Het
Dgkh A T 14: 78,575,942 (GRCm38) I1032N possibly damaging Het
Efcab6 A T 15: 83,904,267 (GRCm38) V942D probably benign Het
Fmo5 A G 3: 97,651,528 (GRCm38) T435A probably benign Het
Fpr1 T C 17: 17,876,893 (GRCm38) Q278R probably benign Het
Fzr1 C T 10: 81,369,394 (GRCm38) W256* probably null Het
Gabrb1 T C 5: 72,108,782 (GRCm38) S261P probably damaging Het
Galr2 G T 11: 116,281,648 (GRCm38) A55S probably benign Het
Gbp2 A T 3: 142,637,466 (GRCm38) K581N probably benign Het
Gm7682 T G 5: 94,448,507 (GRCm38) W468G probably benign Het
Gria1 A T 11: 57,185,838 (GRCm38) Y89F probably damaging Het
Ibsp T A 5: 104,302,304 (GRCm38) I26N possibly damaging Het
Ighv1-16 A C 12: 114,666,060 (GRCm38) C36G probably benign Het
Igll1 T C 16: 16,860,919 (GRCm38) T176A probably benign Het
Ilkap T C 1: 91,385,345 (GRCm38) T143A probably benign Het
Kdm3b A T 18: 34,793,115 (GRCm38) K103* probably null Het
Mphosph9 A G 5: 124,298,790 (GRCm38) I497T possibly damaging Het
Mrgpra3 G A 7: 47,590,160 (GRCm38) T6I possibly damaging Het
Mrpl38 T C 11: 116,132,558 (GRCm38) probably null Het
Myo3a A T 2: 22,542,415 (GRCm38) E813V possibly damaging Het
Myo7b T C 18: 31,962,352 (GRCm38) K1851R probably damaging Het
Myo7b G T 18: 31,959,466 (GRCm38) Q2093K possibly damaging Het
P3h2 T A 16: 25,984,999 (GRCm38) D339V probably benign Het
Pcdhb6 C A 18: 37,335,247 (GRCm38) P407Q possibly damaging Het
Plch2 C A 4: 155,009,026 (GRCm38) R153L probably damaging Het
Plppr4 G A 3: 117,360,308 (GRCm38) probably benign Het
Ppp1r3a A G 6: 14,717,777 (GRCm38) F1046S probably damaging Het
Prkacb A T 3: 146,755,691 (GRCm38) L107M probably benign Het
Ranbp17 A G 11: 33,481,020 (GRCm38) probably null Het
Rasl11b C A 5: 74,197,333 (GRCm38) P88Q probably damaging Het
Rcc2 A G 4: 140,721,149 (GRCm38) E503G possibly damaging Het
Rnf216 T A 5: 143,086,003 (GRCm38) K407N probably damaging Het
Scrn3 G A 2: 73,318,329 (GRCm38) M81I possibly damaging Het
Scube2 T C 7: 109,809,180 (GRCm38) T687A probably benign Het
Serpinb10 T A 1: 107,535,998 (GRCm38) F3L probably benign Het
Sgcb C T 5: 73,639,812 (GRCm38) V202I probably damaging Het
Sgce A G 6: 4,689,654 (GRCm38) V429A possibly damaging Het
Sh3rf2 T C 18: 42,153,164 (GRCm38) V574A probably benign Het
Sncaip T C 18: 52,868,944 (GRCm38) L179S probably damaging Het
Sntg2 A T 12: 30,312,572 (GRCm38) D58E probably damaging Het
Taar3 T C 10: 23,949,688 (GRCm38) I44T possibly damaging Het
Tmem87b G A 2: 128,831,471 (GRCm38) V227I probably benign Het
Tnfsf9 T C 17: 57,105,517 (GRCm38) L29P possibly damaging Het
Tnip2 T C 5: 34,496,871 (GRCm38) H391R probably benign Het
Traf5 A G 1: 191,997,807 (GRCm38) Y125H Het
Ttc23 T G 7: 67,667,213 (GRCm38) I77M probably damaging Het
Ube2l3 T C 16: 17,160,172 (GRCm38) N43S probably benign Het
Vars2 A T 17: 35,666,211 (GRCm38) C142* probably null Het
Vmn2r15 A C 5: 109,287,142 (GRCm38) D565E probably damaging Het
Vmn2r56 C T 7: 12,715,226 (GRCm38) probably null Het
Vmn2r79 A T 7: 87,002,200 (GRCm38) D269V possibly damaging Het
Vmn2r85 A T 10: 130,425,703 (GRCm38) M255K probably benign Het
Wfdc6a T A 2: 164,579,826 (GRCm38) *137C probably null Het
Wipi2 T C 5: 142,666,884 (GRCm38) V417A probably benign Het
Xirp2 G T 2: 67,509,772 (GRCm38) V786L possibly damaging Het
Zdhhc13 G A 7: 48,795,949 (GRCm38) G26S probably benign Het
Zscan25 T A 5: 145,290,612 (GRCm38) V362D probably damaging 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
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
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'- AAGATCACCATGAACCGGG -3'
(R):5'- CACATGATGACCTACGCCTC -3'

Sequencing Primer
(F):5'- TCACCATGAACCGGGAGCTC -3'
(R):5'- GATGACCTACGCCTCTCGGAAC -3'
Posted On 2019-06-07