Incidental Mutation 'R9665:Igf2r'
ID 727799
Institutional Source Beutler Lab
Gene Symbol Igf2r
Ensembl Gene ENSMUSG00000023830
Gene Name insulin-like growth factor 2 receptor
Synonyms IGF-II/CI-MPR, CD222, mannose-6-phosphate receptor, cation independent, M6P/IGF2R, Mpr300, CI-MPR
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R9665 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 12901293-12988551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 12913027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1774 (N1774D)
Ref Sequence ENSEMBL: ENSMUSP00000024599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024599]
AlphaFold Q07113
Predicted Effect probably benign
Transcript: ENSMUST00000024599
AA Change: N1774D

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024599
Gene: ENSMUSG00000023830
AA Change: N1774D

DomainStartEndE-ValueType
signal peptide 1 35 N/A INTRINSIC
low complexity region 94 104 N/A INTRINSIC
Pfam:CIMR 118 266 5.1e-21 PFAM
Pfam:CIMR 272 416 8.8e-22 PFAM
Pfam:CIMR 418 567 3.4e-53 PFAM
Pfam:CIMR 569 709 6.5e-47 PFAM
Pfam:CIMR 713 869 6.5e-34 PFAM
Pfam:CIMR 876 1020 1.9e-10 PFAM
Pfam:CIMR 1024 1171 1e-60 PFAM
Pfam:CIMR 1172 1313 1.2e-17 PFAM
Pfam:CIMR 1315 1455 2.1e-58 PFAM
Pfam:CIMR 1458 1592 1.8e-22 PFAM
Pfam:CIMR 1596 1743 9.1e-23 PFAM
Pfam:CIMR 1748 1887 2.5e-22 PFAM
FN2 1889 1935 9.51e-26 SMART
Pfam:CIMR 1939 2076 2.1e-22 PFAM
Pfam:CIMR 2230 2294 4.9e-9 PFAM
transmembrane domain 2295 2317 N/A INTRINSIC
low complexity region 2336 2363 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161738
SMART Domains Protein: ENSMUSP00000124664
Gene: ENSMUSG00000023830

DomainStartEndE-ValueType
Pfam:CIMR 1 65 3.1e-24 PFAM
Pfam:CIMR 68 129 6.1e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor for both insulin-like growth factor 2 and mannose 6-phosphate. The binding sites for each ligand are located on different segments of the protein. This receptor has various functions, including in the intracellular trafficking of lysosomal enzymes, the activation of transforming growth factor beta, and the degradation of insulin-like growth factor 2. Mutation or loss of heterozygosity of this gene has been association with risk of hepatocellular carcinoma. The orthologous mouse gene is imprinted and shows exclusive expression from the maternal allele; however, imprinting of the human gene may be polymorphic, as only a minority of individuals showed biased expression from the maternal allele (PMID:8267611). [provided by RefSeq, Nov 2015]
PHENOTYPE: Mutants inheriting maternally a targeted disruption of this gene exhibit elevated serum and tissue IGF-II levels, overgrowth, organomegaly, kinky tail, polydactyly, heart defects, edema, dyspnea, imperforate vagina, reduced fertility and perinatal death.Survival is influenced by genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(13) : Targeted, knock-out(4) Targeted, other(3) Gene trapped(6)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,407,796 (GRCm39) E79G probably damaging Het
4930583I09Rik T A 17: 65,141,288 (GRCm39) Q78L unknown Het
9330159F19Rik G T 10: 29,103,344 (GRCm39) V642F probably benign Het
Abca9 T A 11: 110,006,280 (GRCm39) Q1275L probably benign Het
Abca9 G T 11: 110,006,281 (GRCm39) Q1275K probably benign Het
Ager C T 17: 34,819,090 (GRCm39) P313S probably benign Het
Ap4m1 T A 5: 138,171,273 (GRCm39) N98K probably benign Het
Arhgef12 T G 9: 42,929,650 (GRCm39) K215T possibly damaging Het
Arhgef4 T C 1: 34,849,518 (GRCm39) Y370H probably benign Het
Bcat1 T G 6: 144,994,488 (GRCm39) H3P probably benign Het
Btnl6 T A 17: 34,732,635 (GRCm39) Q313L probably benign Het
Cad T C 5: 31,229,703 (GRCm39) S1458P probably benign Het
Cfap161 A G 7: 83,442,579 (GRCm39) V78A probably benign Het
Chd2 C A 7: 73,079,555 (GRCm39) A1782S probably benign Het
Cimip2b T A 4: 43,427,554 (GRCm39) R257* probably null Het
Col4a3 A T 1: 82,668,301 (GRCm39) T1042S unknown Het
Cramp1 A T 17: 25,196,545 (GRCm39) N856K probably damaging Het
Crispld2 G A 8: 120,760,316 (GRCm39) R414H probably benign Het
Ctsb T A 14: 63,370,917 (GRCm39) probably null Het
Cyp2c69 T C 19: 39,839,504 (GRCm39) D373G possibly damaging Het
Dnah3 A G 7: 119,644,981 (GRCm39) V1100A probably benign Het
Dnajb6 A T 5: 29,971,374 (GRCm39) L225F probably damaging Het
Dscc1 A T 15: 54,946,837 (GRCm39) I296K unknown Het
Epb41l2 A G 10: 25,317,798 (GRCm39) D105G probably benign Het
Evpl G A 11: 116,123,497 (GRCm39) R292C probably damaging Het
Flnc T C 6: 29,455,447 (GRCm39) I2032T probably damaging Het
Fryl T A 5: 73,222,299 (GRCm39) D2094V probably damaging Het
Gigyf2 A G 1: 87,331,457 (GRCm39) S202G unknown Het
Hdgfl1 A T 13: 26,953,812 (GRCm39) M87K probably benign Het
Htra3 T A 5: 35,836,654 (GRCm39) I13F unknown Het
Ighj1 A T 12: 113,393,446 (GRCm39) Y3N Het
Incenp T C 19: 9,871,329 (GRCm39) H100R unknown Het
Klrb1c A G 6: 128,760,625 (GRCm39) probably null Het
Lmbrd1 T A 1: 24,732,065 (GRCm39) V94D probably damaging Het
Lmna A T 3: 88,389,793 (GRCm39) S611T probably benign Het
Lsp1 A C 7: 142,044,142 (GRCm39) I296L probably benign Het
Mdga1 A T 17: 30,051,991 (GRCm39) I892N probably damaging Het
Micu3 A G 8: 40,828,666 (GRCm39) E351G probably benign Het
Mrpl35 A G 6: 71,795,704 (GRCm39) V61A probably benign Het
Nhsl1 A G 10: 18,401,599 (GRCm39) K908E possibly damaging Het
Nlk A G 11: 78,481,753 (GRCm39) L236P Het
Nwd1 T A 8: 73,401,106 (GRCm39) H735Q probably damaging Het
Or1e1b-ps1 A T 11: 73,845,656 (GRCm39) I47F probably benign Het
Or5d47 A G 2: 87,804,596 (GRCm39) S138P possibly damaging Het
Or5w17 A T 2: 87,583,671 (GRCm39) I222N probably damaging Het
Or7h8 T A 9: 20,124,402 (GRCm39) Y252* probably null Het
Otof T A 5: 30,584,895 (GRCm39) S70C probably benign Het
Pcdh20 A T 14: 88,707,162 (GRCm39) V46D probably benign Het
Pjvk A G 2: 76,487,827 (GRCm39) T240A probably benign Het
Pou2f1 A G 1: 165,703,600 (GRCm39) S697P probably damaging Het
Prkn T A 17: 11,286,062 (GRCm39) D18E possibly damaging Het
Prmt9 G A 8: 78,307,267 (GRCm39) V739I probably benign Het
Prr14 A G 7: 127,073,091 (GRCm39) D146G probably benign Het
Rai14 T G 15: 10,574,803 (GRCm39) E747D probably damaging Het
Rapgef4 A T 2: 72,036,018 (GRCm39) T504S probably benign Het
Rilpl2 C A 5: 124,616,240 (GRCm39) probably benign Het
Ror2 A T 13: 53,439,561 (GRCm39) M1K probably null Het
Shisa9 A G 16: 12,085,446 (GRCm39) T352A probably benign Het
Slc35a4 A G 18: 36,813,651 (GRCm39) N33S probably benign Het
Slx4 G T 16: 3,806,890 (GRCm39) L518I probably benign Het
Speer1i A G 5: 11,092,852 (GRCm39) K132R Het
Spon2 T C 5: 33,374,702 (GRCm39) T35A probably benign Het
Syne3 A C 12: 104,924,247 (GRCm39) L471R probably benign Het
Tas2r115 A G 6: 132,714,390 (GRCm39) L187S probably benign Het
Tbc1d30 G T 10: 121,102,886 (GRCm39) S715R possibly damaging Het
Tdrd1 A G 19: 56,819,572 (GRCm39) E24G probably benign Het
Tekt2 C T 4: 126,217,444 (GRCm39) R207H probably damaging Het
Tjp1 A G 7: 64,962,644 (GRCm39) S1178P probably benign Het
Upf2 A G 2: 6,051,715 (GRCm39) S1126G unknown Het
Vmn1r128 G T 7: 21,083,362 (GRCm39) C22F probably damaging Het
Vmn2r95 G T 17: 18,660,607 (GRCm39) V340F probably damaging Het
Vps13c A T 9: 67,863,025 (GRCm39) K3014* probably null Het
Wdr75 T C 1: 45,843,013 (GRCm39) V126A unknown Het
Yeats4 A T 10: 117,053,343 (GRCm39) Y139* probably null Het
Zc3h13 A G 14: 75,567,989 (GRCm39) D1094G probably damaging Het
Zfp143 C G 7: 109,692,414 (GRCm39) I608M probably damaging Het
Zfp772 A T 7: 7,212,793 (GRCm39) M1K probably null Het
Zfp827 A G 8: 79,906,756 (GRCm39) M923V possibly damaging Het
Other mutations in Igf2r
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Igf2r APN 17 12,932,877 (GRCm39) missense probably benign 0.01
IGL00534:Igf2r APN 17 12,958,215 (GRCm39) missense probably damaging 0.97
IGL00902:Igf2r APN 17 12,919,245 (GRCm39) missense probably damaging 0.99
IGL00903:Igf2r APN 17 12,902,754 (GRCm39) missense possibly damaging 0.70
IGL01160:Igf2r APN 17 12,923,662 (GRCm39) missense possibly damaging 0.73
IGL01380:Igf2r APN 17 12,914,261 (GRCm39) missense probably benign 0.01
IGL01392:Igf2r APN 17 12,923,236 (GRCm39) missense probably benign
IGL01557:Igf2r APN 17 12,923,522 (GRCm39) missense possibly damaging 0.82
IGL01568:Igf2r APN 17 12,902,872 (GRCm39) missense possibly damaging 0.93
IGL01611:Igf2r APN 17 12,944,302 (GRCm39) nonsense probably null
IGL01720:Igf2r APN 17 12,920,200 (GRCm39) missense probably damaging 0.99
IGL01756:Igf2r APN 17 12,902,709 (GRCm39) missense probably benign
IGL01839:Igf2r APN 17 12,923,909 (GRCm39) missense probably damaging 1.00
IGL01904:Igf2r APN 17 12,933,798 (GRCm39) missense probably damaging 0.99
IGL01965:Igf2r APN 17 12,923,225 (GRCm39) missense probably benign 0.12
IGL02083:Igf2r APN 17 12,912,079 (GRCm39) nonsense probably null
IGL02095:Igf2r APN 17 12,920,892 (GRCm39) missense probably damaging 0.99
IGL02183:Igf2r APN 17 12,917,403 (GRCm39) unclassified probably benign
IGL02576:Igf2r APN 17 12,967,650 (GRCm39) missense possibly damaging 0.90
IGL02649:Igf2r APN 17 12,930,974 (GRCm39) missense possibly damaging 0.93
IGL02807:Igf2r APN 17 12,938,770 (GRCm39) missense probably damaging 0.98
IGL02833:Igf2r APN 17 12,911,610 (GRCm39) missense probably damaging 0.97
IGL02885:Igf2r APN 17 12,913,007 (GRCm39) missense possibly damaging 0.94
IGL02990:Igf2r APN 17 12,929,633 (GRCm39) splice site probably benign
IGL03080:Igf2r APN 17 12,945,563 (GRCm39) missense probably benign 0.06
IGL03176:Igf2r APN 17 12,935,559 (GRCm39) missense probably damaging 1.00
blunt UTSW 17 12,941,062 (GRCm39) missense probably benign 0.02
brusque UTSW 17 12,933,838 (GRCm39) missense probably damaging 0.98
gruff UTSW 17 12,902,984 (GRCm39) missense probably damaging 0.96
outlier UTSW 17 12,914,201 (GRCm39) missense probably benign 0.20
NA:Igf2r UTSW 17 12,910,849 (GRCm39) missense probably benign
R0165:Igf2r UTSW 17 12,917,414 (GRCm39) missense probably benign 0.07
R0412:Igf2r UTSW 17 12,902,835 (GRCm39) missense probably damaging 0.98
R0523:Igf2r UTSW 17 12,910,951 (GRCm39) missense probably benign 0.27
R0631:Igf2r UTSW 17 12,936,161 (GRCm39) splice site probably null
R0722:Igf2r UTSW 17 12,934,382 (GRCm39) critical splice acceptor site probably null
R0894:Igf2r UTSW 17 12,910,988 (GRCm39) missense probably benign 0.02
R1265:Igf2r UTSW 17 12,913,011 (GRCm39) missense probably damaging 0.98
R1466:Igf2r UTSW 17 12,936,156 (GRCm39) splice site probably benign
R1485:Igf2r UTSW 17 12,910,172 (GRCm39) missense probably damaging 1.00
R1633:Igf2r UTSW 17 12,945,196 (GRCm39) missense probably benign
R1693:Igf2r UTSW 17 12,923,203 (GRCm39) missense probably damaging 0.97
R1751:Igf2r UTSW 17 12,916,328 (GRCm39) missense possibly damaging 0.94
R1843:Igf2r UTSW 17 12,923,157 (GRCm39) critical splice donor site probably null
R1981:Igf2r UTSW 17 12,952,790 (GRCm39) nonsense probably null
R1994:Igf2r UTSW 17 12,911,625 (GRCm39) missense probably benign
R2060:Igf2r UTSW 17 12,920,206 (GRCm39) missense possibly damaging 0.92
R2108:Igf2r UTSW 17 12,917,138 (GRCm39) missense probably benign 0.02
R2132:Igf2r UTSW 17 12,941,095 (GRCm39) missense probably benign 0.12
R2314:Igf2r UTSW 17 12,934,830 (GRCm39) missense probably benign 0.28
R2349:Igf2r UTSW 17 12,941,198 (GRCm39) splice site probably null
R2696:Igf2r UTSW 17 12,914,231 (GRCm39) missense possibly damaging 0.96
R2864:Igf2r UTSW 17 12,905,611 (GRCm39) missense probably damaging 0.99
R2865:Igf2r UTSW 17 12,905,611 (GRCm39) missense probably damaging 0.99
R3884:Igf2r UTSW 17 12,928,355 (GRCm39) missense probably benign
R3930:Igf2r UTSW 17 12,924,716 (GRCm39) missense probably benign 0.01
R4021:Igf2r UTSW 17 12,967,638 (GRCm39) missense probably damaging 0.97
R4125:Igf2r UTSW 17 12,921,141 (GRCm39) missense possibly damaging 0.93
R4342:Igf2r UTSW 17 12,928,398 (GRCm39) missense possibly damaging 0.95
R4343:Igf2r UTSW 17 12,928,398 (GRCm39) missense possibly damaging 0.95
R4345:Igf2r UTSW 17 12,928,398 (GRCm39) missense possibly damaging 0.95
R4760:Igf2r UTSW 17 12,922,352 (GRCm39) missense possibly damaging 0.92
R4796:Igf2r UTSW 17 12,903,013 (GRCm39) missense possibly damaging 0.70
R4816:Igf2r UTSW 17 12,902,984 (GRCm39) missense probably damaging 0.96
R4826:Igf2r UTSW 17 12,920,240 (GRCm39) missense probably damaging 0.98
R4933:Igf2r UTSW 17 12,910,764 (GRCm39) splice site probably null
R4980:Igf2r UTSW 17 12,922,247 (GRCm39) critical splice donor site probably null
R5389:Igf2r UTSW 17 12,944,303 (GRCm39) missense probably damaging 1.00
R5473:Igf2r UTSW 17 12,914,201 (GRCm39) missense probably benign 0.20
R5494:Igf2r UTSW 17 12,912,032 (GRCm39) missense possibly damaging 0.74
R5619:Igf2r UTSW 17 12,958,221 (GRCm39) missense probably damaging 1.00
R5738:Igf2r UTSW 17 12,936,254 (GRCm39) missense probably benign 0.23
R5761:Igf2r UTSW 17 12,917,239 (GRCm39) splice site probably null
R5794:Igf2r UTSW 17 12,928,332 (GRCm39) missense probably benign 0.37
R6210:Igf2r UTSW 17 12,933,838 (GRCm39) missense probably damaging 0.98
R6319:Igf2r UTSW 17 12,933,000 (GRCm39) missense probably damaging 1.00
R6388:Igf2r UTSW 17 12,902,787 (GRCm39) missense probably benign
R6396:Igf2r UTSW 17 12,932,977 (GRCm39) missense probably benign 0.00
R6584:Igf2r UTSW 17 12,920,137 (GRCm39) missense probably damaging 0.99
R6590:Igf2r UTSW 17 12,910,824 (GRCm39) nonsense probably null
R6591:Igf2r UTSW 17 12,907,895 (GRCm39) missense probably damaging 1.00
R6599:Igf2r UTSW 17 12,917,505 (GRCm39) missense possibly damaging 0.85
R6690:Igf2r UTSW 17 12,910,824 (GRCm39) nonsense probably null
R6691:Igf2r UTSW 17 12,907,895 (GRCm39) missense probably damaging 1.00
R6752:Igf2r UTSW 17 12,933,831 (GRCm39) missense probably damaging 1.00
R6816:Igf2r UTSW 17 12,932,969 (GRCm39) missense probably damaging 0.99
R6841:Igf2r UTSW 17 12,922,263 (GRCm39) missense probably damaging 0.97
R6877:Igf2r UTSW 17 12,916,228 (GRCm39) missense probably damaging 0.97
R6950:Igf2r UTSW 17 12,937,605 (GRCm39) missense probably benign
R7030:Igf2r UTSW 17 12,952,753 (GRCm39) missense probably damaging 1.00
R7038:Igf2r UTSW 17 12,917,212 (GRCm39) missense probably benign 0.23
R7055:Igf2r UTSW 17 12,923,210 (GRCm39) missense probably damaging 0.99
R7074:Igf2r UTSW 17 12,933,003 (GRCm39) missense possibly damaging 0.57
R7348:Igf2r UTSW 17 12,922,371 (GRCm39) missense probably damaging 0.99
R7413:Igf2r UTSW 17 12,917,115 (GRCm39) nonsense probably null
R7463:Igf2r UTSW 17 12,929,532 (GRCm39) missense probably benign 0.16
R7619:Igf2r UTSW 17 12,917,160 (GRCm39) missense possibly damaging 0.88
R7730:Igf2r UTSW 17 12,954,878 (GRCm39) missense probably damaging 0.98
R7733:Igf2r UTSW 17 12,958,256 (GRCm39) missense possibly damaging 0.90
R7881:Igf2r UTSW 17 12,967,591 (GRCm39) missense probably benign
R8022:Igf2r UTSW 17 12,937,682 (GRCm39) missense probably damaging 1.00
R8138:Igf2r UTSW 17 12,920,125 (GRCm39) missense probably benign 0.32
R8220:Igf2r UTSW 17 12,910,958 (GRCm39) missense probably benign 0.22
R8305:Igf2r UTSW 17 12,952,747 (GRCm39) missense probably benign
R8359:Igf2r UTSW 17 12,902,748 (GRCm39) missense probably benign
R8500:Igf2r UTSW 17 12,928,328 (GRCm39) missense probably damaging 0.99
R8510:Igf2r UTSW 17 12,923,200 (GRCm39) missense probably benign 0.38
R8933:Igf2r UTSW 17 12,923,524 (GRCm39) missense probably damaging 1.00
R8933:Igf2r UTSW 17 12,920,131 (GRCm39) missense probably damaging 0.97
R8976:Igf2r UTSW 17 12,945,659 (GRCm39) missense probably damaging 1.00
R8994:Igf2r UTSW 17 12,935,537 (GRCm39) missense possibly damaging 0.87
R9059:Igf2r UTSW 17 12,970,180 (GRCm39) start codon destroyed probably null
R9097:Igf2r UTSW 17 12,910,100 (GRCm39) missense probably damaging 1.00
R9127:Igf2r UTSW 17 12,958,238 (GRCm39) missense probably damaging 0.98
R9278:Igf2r UTSW 17 12,914,240 (GRCm39) missense probably damaging 1.00
R9362:Igf2r UTSW 17 12,941,062 (GRCm39) missense probably benign 0.02
R9371:Igf2r UTSW 17 12,924,646 (GRCm39) missense possibly damaging 0.93
R9522:Igf2r UTSW 17 12,917,215 (GRCm39) missense probably benign 0.26
R9567:Igf2r UTSW 17 12,905,641 (GRCm39) missense probably damaging 1.00
R9666:Igf2r UTSW 17 12,945,588 (GRCm39) missense probably benign
X0028:Igf2r UTSW 17 12,923,800 (GRCm39) nonsense probably null
Z1177:Igf2r UTSW 17 12,916,286 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGCATCTTAGCCCTCTGGAG -3'
(R):5'- CGCTATTCCCAGGAAAGAATATGG -3'

Sequencing Primer
(F):5'- TCTGGAGGCTGGCAAGG -3'
(R):5'- GTCCTCACACGGTGGTTTTTAAGAC -3'
Posted On 2022-10-06