Incidental Mutation 'R8220:Igf2r'
ID 636660
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 067638-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.905) question?
Stock # R8220 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 12901293-12988551 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 12910958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 1953 (S1953R)
Ref Sequence ENSEMBL: ENSMUSP00000024599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024599]
AlphaFold Q07113
Predicted Effect probably benign
Transcript: ENSMUST00000024599
AA Change: S1953R

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000024599
Gene: ENSMUSG00000023830
AA Change: S1953R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.1%
Validation Efficiency 100% (78/78)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,723 (GRCm39) C106S probably damaging Het
Abca13 C T 11: 9,384,299 (GRCm39) T3917M possibly damaging Het
Abcb8 T C 5: 24,611,783 (GRCm39) I533T possibly damaging Het
Becn1 C T 11: 101,187,105 (GRCm39) R78Q possibly damaging Het
Bhlha9 T C 11: 76,563,703 (GRCm39) I110T probably damaging Het
Cemip T C 7: 83,596,368 (GRCm39) D1132G probably damaging Het
Cyth3 T A 5: 143,687,344 (GRCm39) probably null Het
Dcpp2 A G 17: 24,119,666 (GRCm39) E160G possibly damaging Het
Dock10 C T 1: 80,506,366 (GRCm39) G1726S probably null Het
Dsel T C 1: 111,789,437 (GRCm39) D366G probably damaging Het
Ednrb A T 14: 104,059,141 (GRCm39) L295Q probably damaging Het
Etaa1 C T 11: 17,895,690 (GRCm39) R809K probably benign Het
Fahd1 A G 17: 25,068,864 (GRCm39) L71P probably damaging Het
Fat1 A G 8: 45,492,993 (GRCm39) E3882G probably null Het
Frem2 A T 3: 53,563,928 (GRCm39) L193* probably null Het
Gba2 T G 4: 43,568,510 (GRCm39) D652A probably damaging Het
Gm5460 C T 14: 33,767,876 (GRCm39) P220S probably damaging Het
Gm7137 A T 10: 77,623,785 (GRCm39) C84S unknown Het
Gm8122 G T 14: 43,090,174 (GRCm39) probably null Het
H1f4 T C 13: 23,805,922 (GRCm39) S187G probably benign Het
Hyal5 A T 6: 24,876,879 (GRCm39) I251L probably benign Het
Igkc C A 6: 70,703,666 (GRCm39) N82K Het
Il18 T A 9: 50,486,616 (GRCm39) M15K possibly damaging Het
Insr T A 8: 3,208,702 (GRCm39) E1253V probably benign Het
Itgax A G 7: 127,730,090 (GRCm39) Q82R probably benign Het
Kcnn3 A G 3: 89,568,548 (GRCm39) I609V probably benign Het
Klk14 A G 7: 43,343,498 (GRCm39) D110G probably damaging Het
Lamb3 T A 1: 193,016,556 (GRCm39) L679Q probably damaging Het
Lgsn C T 1: 31,235,881 (GRCm39) A115V probably benign Het
Lipt1 C T 1: 37,914,706 (GRCm39) T254M probably damaging Het
Lrrc3b T C 14: 15,358,004 (GRCm38) T201A probably damaging Het
Lrrc49 T A 9: 60,517,613 (GRCm39) D432V probably benign Het
Meltf A G 16: 31,706,233 (GRCm39) N239S probably benign Het
Mki67 G A 7: 135,299,850 (GRCm39) A1728V probably benign Het
Mms22l T A 4: 24,536,375 (GRCm39) L615I probably damaging Het
Mtcl3 C T 10: 29,023,264 (GRCm39) Q204* probably null Het
Mttp C A 3: 137,829,609 (GRCm39) G93V probably benign Het
Muc4 A T 16: 32,575,701 (GRCm39) T1734S unknown Het
Myh9 C T 15: 77,648,747 (GRCm39) R1703Q possibly damaging Het
N4bp1 T C 8: 87,571,315 (GRCm39) *894W probably null Het
Nab2 C A 10: 127,498,645 (GRCm39) V475L probably benign Het
Nup43 C T 10: 7,552,097 (GRCm39) A295V probably benign Het
Or1af1 T C 2: 37,109,791 (GRCm39) C97R probably benign Het
Or4b12 T C 2: 90,096,387 (GRCm39) H129R probably benign Het
Or7g32 G T 9: 19,408,317 (GRCm39) S91I probably damaging Het
Or8k3 C T 2: 86,059,309 (GRCm39) G2E probably benign Het
Or9m2 C T 2: 87,820,496 (GRCm39) L14F probably damaging Het
Pcdha11 A G 18: 37,139,624 (GRCm39) T418A probably benign Het
Pdzd2 T C 15: 12,592,249 (GRCm39) K132E probably damaging Het
Pira13 T C 7: 3,825,903 (GRCm39) E322G unknown Het
Plec C T 15: 76,062,497 (GRCm39) R2480H possibly damaging Het
Plscr2 G A 9: 92,177,713 (GRCm39) G293D probably damaging Het
Prr23a4 A G 9: 98,785,581 (GRCm39) D82G probably benign Het
Ptchd4 A G 17: 42,813,554 (GRCm39) H485R probably benign Het
Rbbp9 A T 2: 144,389,986 (GRCm39) M59K probably null Het
Rest G A 5: 77,430,325 (GRCm39) A915T probably benign Het
Rhbdf1 C T 11: 32,164,563 (GRCm39) A168T probably benign Het
Scamp2 A T 9: 57,484,953 (GRCm39) Q53L probably benign Het
Scn2a T C 2: 65,520,620 (GRCm39) F539L probably benign Het
Sdr16c6 A T 4: 4,076,872 (GRCm39) I9N probably benign Het
Slc23a3 T A 1: 75,110,511 (GRCm39) probably benign Het
Slc6a19 A G 13: 73,833,889 (GRCm39) S390P probably damaging Het
Snx11 C T 11: 96,661,885 (GRCm39) R99Q probably damaging Het
Suclg2 T A 6: 95,565,927 (GRCm39) I189F possibly damaging Het
Tedc1 T C 12: 113,120,375 (GRCm39) probably null Het
Timeless A T 10: 128,082,265 (GRCm39) R598W probably damaging Het
Tm9sf3 A T 19: 41,203,526 (GRCm39) N583K possibly damaging Het
Tox3 A G 8: 90,984,708 (GRCm39) V157A probably damaging Het
Tpr G T 1: 150,308,164 (GRCm39) V1640L probably benign Het
Trav7-4 C T 14: 53,699,102 (GRCm39) A83V probably benign Het
Trdn A G 10: 33,326,981 (GRCm39) K590R possibly damaging Het
Trim11 T C 11: 58,881,220 (GRCm39) L371P probably damaging Het
Trim5 T A 7: 103,926,033 (GRCm39) Q176L probably damaging Het
Tubgcp2 T C 7: 139,586,053 (GRCm39) H412R possibly damaging Het
Ugt2b35 T A 5: 87,149,302 (GRCm39) S184R probably damaging Het
Ush2a T A 1: 188,460,863 (GRCm39) V2708E probably damaging Het
Vmn1r87 T A 7: 12,865,427 (GRCm39) T287S possibly damaging Het
Zbtb7a A G 10: 80,980,838 (GRCm39) D344G probably damaging Het
Zfp560 G T 9: 20,260,348 (GRCm39) N171K probably benign Het
Zfp579 A T 7: 4,996,850 (GRCm39) C354S probably benign 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
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
R9665:Igf2r UTSW 17 12,913,027 (GRCm39) missense probably benign 0.17
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'- TTCATGCACAAAGTCCCAGG -3'
(R):5'- ATTGAATGCTTTCCCAGGAGG -3'

Sequencing Primer
(F):5'- AAAGTCCCAGGACCCCGTG -3'
(R):5'- CTGAGGAACTGAGTTTGTAAGTG -3'
Posted On 2020-07-13