Incidental Mutation 'R8879:Ranbp2'
ID 676777
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 068747-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8879 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 58446920-58494356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58477889 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 1477 (V1477E)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003310
AA Change: V1477E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: V1477E

DomainStartEndE-ValueType
Pfam:TPR_1 60 93 1.8e-7 PFAM
Pfam:TPR_8 60 93 8.9e-6 PFAM
low complexity region 235 247 N/A INTRINSIC
low complexity region 778 801 N/A INTRINSIC
coiled coil region 808 832 N/A INTRINSIC
RanBD 1166 1295 6.47e-64 SMART
ZnF_RBZ 1348 1372 5.49e-2 SMART
ZnF_RBZ 1412 1436 3.06e-6 SMART
ZnF_RBZ 1471 1495 4.16e-8 SMART
ZnF_RBZ 1500 1524 4.57e-5 SMART
ZnF_RBZ 1560 1584 3.52e-6 SMART
ZnF_RBZ 1619 1643 1.35e-7 SMART
RanBD 1850 1979 2.84e-60 SMART
low complexity region 2034 2048 N/A INTRINSIC
low complexity region 2069 2090 N/A INTRINSIC
low complexity region 2106 2121 N/A INTRINSIC
RanBD 2147 2276 4.96e-83 SMART
low complexity region 2310 2317 N/A INTRINSIC
low complexity region 2328 2342 N/A INTRINSIC
Pfam:IR1-M 2468 2530 2.5e-27 PFAM
Pfam:IR1-M 2544 2604 7e-30 PFAM
low complexity region 2673 2684 N/A INTRINSIC
low complexity region 2722 2732 N/A INTRINSIC
RanBD 2741 2869 5e-79 SMART
Pfam:Pro_isomerase 2896 3052 4.5e-45 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (69/69)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik C T 15: 58,022,509 (GRCm38) V326M probably damaging Het
Adap2 T A 11: 80,156,959 (GRCm38) H80Q probably benign Het
Ang4 T C 14: 51,764,486 (GRCm38) T2A probably benign Het
Arf2 T C 11: 103,979,759 (GRCm38) probably null Het
B3gnt4 A G 5: 123,511,148 (GRCm38) D192G probably damaging Het
BC034090 T C 1: 155,226,357 (GRCm38) I54V probably benign Het
Catsper3 A G 13: 55,804,895 (GRCm38) T202A probably benign Het
Cenpe T A 3: 135,260,101 (GRCm38) D2113E probably damaging Het
Clasp2 T C 9: 113,773,705 (GRCm38) V191A probably benign Het
Col5a1 G T 2: 28,014,158 (GRCm38) A1356S unknown Het
Cuzd1 A G 7: 131,308,848 (GRCm38) S573P probably damaging Het
Cyp1a2 C A 9: 57,681,885 (GRCm38) M215I possibly damaging Het
Dcaf17 T A 2: 71,063,402 (GRCm38) I122K possibly damaging Het
Dhcr24 A G 4: 106,573,809 (GRCm38) I232V probably benign Het
Dnah10 A G 5: 124,818,117 (GRCm38) E3570G probably damaging Het
Dnaja4 A T 9: 54,714,704 (GRCm38) probably benign Het
Ehd1 A G 19: 6,298,324 (GRCm38) D444G probably damaging Het
Ehmt1 T A 2: 24,836,476 (GRCm38) M766L possibly damaging Het
Eno4 A G 19: 58,970,722 (GRCm38) I613M probably benign Het
Exoc3l A T 8: 105,290,549 (GRCm38) M602K Het
Fam107a C T 14: 8,301,352 (GRCm38) probably null Het
Frem3 A T 8: 80,613,148 (GRCm38) D690V probably damaging Het
Gm11639 T C 11: 104,690,955 (GRCm38) I41T probably benign Het
Gm19410 A T 8: 35,771,868 (GRCm38) D97V probably damaging Het
Grik5 T A 7: 25,023,064 (GRCm38) D540V possibly damaging Het
Hint1 T A 11: 54,869,943 (GRCm38) D69E probably benign Het
Krt13 T C 11: 100,119,385 (GRCm38) T257A probably benign Het
Lpin2 T C 17: 71,242,754 (GRCm38) L676P probably damaging Het
Lrguk A G 6: 34,029,683 (GRCm38) E76G probably benign Het
Lrrc8a A G 2: 30,256,298 (GRCm38) M375V probably benign Het
Lrrtm3 T C 10: 64,089,238 (GRCm38) Q50R possibly damaging Het
Mmrn1 T A 6: 60,976,529 (GRCm38) L598Q probably damaging Het
Mrs2 A G 13: 25,001,784 (GRCm38) I135T probably damaging Het
Neb T C 2: 52,235,580 (GRCm38) D475G Het
Notch2 A G 3: 98,135,599 (GRCm38) S1427G possibly damaging Het
Odad4 G T 11: 100,566,926 (GRCm38) E452* probably null Het
Opcml T C 9: 28,902,151 (GRCm38) F246S probably damaging Het
Or10al2 C A 17: 37,672,411 (GRCm38) Y129* probably null Het
Or2ag1b A T 7: 106,689,089 (GRCm38) I214N probably damaging Het
Or56a42-ps1 A G 7: 105,126,686 (GRCm38) V195A probably benign Het
Or6c69 A G 10: 129,911,862 (GRCm38) C139R probably damaging Het
Or8g33 A C 9: 39,426,219 (GRCm38) V284G possibly damaging Het
Pdzd2 C A 15: 12,402,319 (GRCm38) V729F probably damaging Het
Pias2 C T 18: 77,146,768 (GRCm38) Q565* probably null Het
Pnp T A 14: 50,950,720 (GRCm38) probably null Het
Ptpn18 T C 1: 34,463,130 (GRCm38) S76P probably benign Het
Qtrt2 A T 16: 43,863,197 (GRCm38) L304Q probably damaging Het
Rad51ap2 A T 12: 11,457,400 (GRCm38) E441V possibly damaging Het
Repin1 C T 6: 48,597,433 (GRCm38) T432I possibly damaging Het
Rest G A 5: 77,282,511 (GRCm38) G926R probably benign Het
Rnft1 T A 11: 86,486,690 (GRCm38) F143L possibly damaging Het
Sema3e A T 5: 14,232,094 (GRCm38) I415L probably benign Het
Slc10a1 T A 12: 80,967,595 (GRCm38) N117I probably damaging Het
Slc25a23 G A 17: 57,059,709 (GRCm38) probably benign Het
Slc2a2 T C 3: 28,713,802 (GRCm38) S160P possibly damaging Het
Srrd A G 5: 112,338,456 (GRCm38) V178A possibly damaging Het
Tmigd3 G T 3: 105,921,961 (GRCm38) G198C probably benign Het
Trbv29 G A 6: 41,271,405 (GRCm38) M1I probably null Het
Tril A G 6: 53,819,584 (GRCm38) S218P probably damaging Het
Trip11 T C 12: 101,862,598 (GRCm38) K1749R probably benign Het
Ttn A G 2: 76,830,651 (GRCm38) V12011A Het
Ubr4 T G 4: 139,410,518 (GRCm38) F1093V probably benign Het
Urb2 C A 8: 124,028,403 (GRCm38) A283E probably benign Het
Usp43 T A 11: 67,898,881 (GRCm38) probably benign Het
Vmn1r28 A T 6: 58,265,684 (GRCm38) I171F probably benign Het
Vps33a G A 5: 123,533,899 (GRCm38) R469W probably damaging Het
Zfp202 G A 9: 40,211,757 (GRCm38) R605Q probably damaging Het
Zpbp2 A T 11: 98,554,620 (GRCm38) H158L probably benign Het
Other mutations in Ranbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ranbp2 APN 10 58,477,256 (GRCm38) missense probably damaging 1.00
IGL00336:Ranbp2 APN 10 58,451,984 (GRCm38) missense probably damaging 1.00
IGL00486:Ranbp2 APN 10 58,477,612 (GRCm38) missense probably benign 0.06
IGL00800:Ranbp2 APN 10 58,490,704 (GRCm38) missense probably benign
IGL00834:Ranbp2 APN 10 58,453,323 (GRCm38) missense possibly damaging 0.94
IGL00852:Ranbp2 APN 10 58,477,901 (GRCm38) missense probably benign
IGL00984:Ranbp2 APN 10 58,461,964 (GRCm38) nonsense probably null
IGL01299:Ranbp2 APN 10 58,492,817 (GRCm38) missense probably damaging 1.00
IGL01325:Ranbp2 APN 10 58,476,298 (GRCm38) missense probably damaging 0.99
IGL01444:Ranbp2 APN 10 58,475,300 (GRCm38) missense possibly damaging 0.79
IGL01545:Ranbp2 APN 10 58,478,881 (GRCm38) missense possibly damaging 0.48
IGL01619:Ranbp2 APN 10 58,464,078 (GRCm38) splice site probably null
IGL01782:Ranbp2 APN 10 58,478,309 (GRCm38) missense probably damaging 0.97
IGL02020:Ranbp2 APN 10 58,479,947 (GRCm38) missense probably damaging 1.00
IGL02096:Ranbp2 APN 10 58,461,967 (GRCm38) missense probably damaging 1.00
IGL02182:Ranbp2 APN 10 58,485,760 (GRCm38) nonsense probably null
IGL02211:Ranbp2 APN 10 58,478,242 (GRCm38) missense probably benign
IGL02249:Ranbp2 APN 10 58,480,078 (GRCm38) missense possibly damaging 0.89
IGL02268:Ranbp2 APN 10 58,493,653 (GRCm38) unclassified probably benign
IGL02421:Ranbp2 APN 10 58,480,554 (GRCm38) missense probably damaging 1.00
IGL03080:Ranbp2 APN 10 58,476,791 (GRCm38) missense probably benign 0.01
IGL03119:Ranbp2 APN 10 58,452,003 (GRCm38) missense probably damaging 1.00
IGL03206:Ranbp2 APN 10 58,465,547 (GRCm38) missense probably damaging 1.00
IGL03237:Ranbp2 APN 10 58,492,961 (GRCm38) missense probably damaging 0.98
En_passant UTSW 10 58,452,017 (GRCm38) missense probably damaging 1.00
red_river UTSW 10 58,465,667 (GRCm38) missense probably damaging 1.00
IGL02799:Ranbp2 UTSW 10 58,480,264 (GRCm38) missense probably damaging 1.00
R0058:Ranbp2 UTSW 10 58,480,531 (GRCm38) missense probably damaging 0.98
R0058:Ranbp2 UTSW 10 58,480,531 (GRCm38) missense probably damaging 0.98
R0145:Ranbp2 UTSW 10 58,480,046 (GRCm38) missense probably damaging 1.00
R0309:Ranbp2 UTSW 10 58,479,868 (GRCm38) missense probably benign 0.04
R0375:Ranbp2 UTSW 10 58,477,283 (GRCm38) missense probably damaging 1.00
R0441:Ranbp2 UTSW 10 58,485,768 (GRCm38) missense probably benign 0.40
R0494:Ranbp2 UTSW 10 58,467,432 (GRCm38) missense possibly damaging 0.53
R0542:Ranbp2 UTSW 10 58,478,414 (GRCm38) missense probably benign 0.02
R0565:Ranbp2 UTSW 10 58,476,336 (GRCm38) missense probably benign 0.41
R0608:Ranbp2 UTSW 10 58,493,898 (GRCm38) missense probably damaging 1.00
R0661:Ranbp2 UTSW 10 58,478,733 (GRCm38) missense probably benign
R0670:Ranbp2 UTSW 10 58,480,698 (GRCm38) missense probably benign 0.01
R0760:Ranbp2 UTSW 10 58,476,791 (GRCm38) missense possibly damaging 0.70
R0811:Ranbp2 UTSW 10 58,465,529 (GRCm38) missense probably benign 0.01
R0812:Ranbp2 UTSW 10 58,465,529 (GRCm38) missense probably benign 0.01
R1180:Ranbp2 UTSW 10 58,465,463 (GRCm38) missense probably damaging 1.00
R1196:Ranbp2 UTSW 10 58,477,053 (GRCm38) missense probably damaging 1.00
R1216:Ranbp2 UTSW 10 58,483,212 (GRCm38) splice site probably benign
R1374:Ranbp2 UTSW 10 58,485,893 (GRCm38) splice site probably benign
R1541:Ranbp2 UTSW 10 58,483,094 (GRCm38) missense possibly damaging 0.90
R1589:Ranbp2 UTSW 10 58,463,986 (GRCm38) missense probably benign 0.01
R1711:Ranbp2 UTSW 10 58,460,519 (GRCm38) missense probably benign 0.11
R1761:Ranbp2 UTSW 10 58,485,741 (GRCm38) missense probably benign 0.02
R1831:Ranbp2 UTSW 10 58,479,222 (GRCm38) nonsense probably null
R1840:Ranbp2 UTSW 10 58,478,766 (GRCm38) missense probably benign 0.41
R1869:Ranbp2 UTSW 10 58,492,561 (GRCm38) missense probably damaging 1.00
R1871:Ranbp2 UTSW 10 58,492,561 (GRCm38) missense probably damaging 1.00
R1892:Ranbp2 UTSW 10 58,464,099 (GRCm38) missense probably benign 0.36
R2270:Ranbp2 UTSW 10 58,455,927 (GRCm38) missense probably benign 0.06
R2363:Ranbp2 UTSW 10 58,478,936 (GRCm38) missense possibly damaging 0.79
R3844:Ranbp2 UTSW 10 58,477,895 (GRCm38) missense possibly damaging 0.87
R3937:Ranbp2 UTSW 10 58,476,472 (GRCm38) missense probably benign 0.00
R3938:Ranbp2 UTSW 10 58,476,472 (GRCm38) missense probably benign 0.00
R4025:Ranbp2 UTSW 10 58,480,556 (GRCm38) missense probably benign 0.23
R4183:Ranbp2 UTSW 10 58,465,666 (GRCm38) missense possibly damaging 0.53
R4247:Ranbp2 UTSW 10 58,478,864 (GRCm38) missense possibly damaging 0.79
R4334:Ranbp2 UTSW 10 58,463,994 (GRCm38) missense probably damaging 1.00
R4656:Ranbp2 UTSW 10 58,453,422 (GRCm38) missense possibly damaging 0.82
R4746:Ranbp2 UTSW 10 58,492,670 (GRCm38) missense probably damaging 1.00
R4852:Ranbp2 UTSW 10 58,477,056 (GRCm38) missense possibly damaging 0.94
R4863:Ranbp2 UTSW 10 58,492,421 (GRCm38) missense probably damaging 0.99
R5011:Ranbp2 UTSW 10 58,461,895 (GRCm38) missense probably benign 0.36
R5014:Ranbp2 UTSW 10 58,464,120 (GRCm38) missense probably benign 0.40
R5145:Ranbp2 UTSW 10 58,480,038 (GRCm38) missense probably damaging 1.00
R5178:Ranbp2 UTSW 10 58,476,785 (GRCm38) missense probably benign 0.01
R5199:Ranbp2 UTSW 10 58,464,443 (GRCm38) missense probably benign
R5294:Ranbp2 UTSW 10 58,478,668 (GRCm38) missense probably benign 0.23
R5508:Ranbp2 UTSW 10 58,480,005 (GRCm38) missense probably damaging 0.97
R5511:Ranbp2 UTSW 10 58,493,739 (GRCm38) missense probably benign 0.29
R5575:Ranbp2 UTSW 10 58,492,583 (GRCm38) missense probably damaging 1.00
R5617:Ranbp2 UTSW 10 58,465,667 (GRCm38) missense probably damaging 1.00
R5630:Ranbp2 UTSW 10 58,479,076 (GRCm38) missense probably damaging 1.00
R5733:Ranbp2 UTSW 10 58,485,836 (GRCm38) missense probably damaging 1.00
R5751:Ranbp2 UTSW 10 58,464,264 (GRCm38) splice site probably null
R5767:Ranbp2 UTSW 10 58,476,825 (GRCm38) missense probably benign 0.02
R6122:Ranbp2 UTSW 10 58,465,529 (GRCm38) missense probably benign 0.02
R6147:Ranbp2 UTSW 10 58,479,428 (GRCm38) missense probably damaging 1.00
R6286:Ranbp2 UTSW 10 58,479,572 (GRCm38) missense probably benign 0.02
R6344:Ranbp2 UTSW 10 58,483,886 (GRCm38) splice site probably null
R6452:Ranbp2 UTSW 10 58,478,157 (GRCm38) missense probably benign 0.00
R6487:Ranbp2 UTSW 10 58,485,741 (GRCm38) missense probably benign 0.02
R6620:Ranbp2 UTSW 10 58,455,807 (GRCm38) critical splice acceptor site probably null
R6759:Ranbp2 UTSW 10 58,457,737 (GRCm38) nonsense probably null
R7010:Ranbp2 UTSW 10 58,454,571 (GRCm38) critical splice acceptor site probably null
R7071:Ranbp2 UTSW 10 58,492,837 (GRCm38) missense probably damaging 1.00
R7083:Ranbp2 UTSW 10 58,479,230 (GRCm38) missense probably damaging 1.00
R7088:Ranbp2 UTSW 10 58,463,906 (GRCm38) missense probably damaging 1.00
R7102:Ranbp2 UTSW 10 58,463,950 (GRCm38) missense probably damaging 1.00
R7194:Ranbp2 UTSW 10 58,476,769 (GRCm38) missense probably benign 0.05
R7217:Ranbp2 UTSW 10 58,452,017 (GRCm38) missense probably damaging 1.00
R7318:Ranbp2 UTSW 10 58,483,087 (GRCm38) nonsense probably null
R7341:Ranbp2 UTSW 10 58,485,797 (GRCm38) missense possibly damaging 0.72
R7398:Ranbp2 UTSW 10 58,467,277 (GRCm38) missense probably damaging 1.00
R7424:Ranbp2 UTSW 10 58,479,194 (GRCm38) missense probably damaging 0.98
R7727:Ranbp2 UTSW 10 58,455,438 (GRCm38) missense probably benign 0.09
R7795:Ranbp2 UTSW 10 58,483,907 (GRCm38) nonsense probably null
R7812:Ranbp2 UTSW 10 58,467,402 (GRCm38) missense probably benign
R7845:Ranbp2 UTSW 10 58,447,022 (GRCm38) missense probably damaging 1.00
R7875:Ranbp2 UTSW 10 58,478,455 (GRCm38) nonsense probably null
R7934:Ranbp2 UTSW 10 58,476,475 (GRCm38) missense probably damaging 0.98
R8022:Ranbp2 UTSW 10 58,485,861 (GRCm38) missense possibly damaging 0.53
R8050:Ranbp2 UTSW 10 58,479,619 (GRCm38) missense probably damaging 0.99
R8100:Ranbp2 UTSW 10 58,490,648 (GRCm38) missense possibly damaging 0.58
R8194:Ranbp2 UTSW 10 58,455,925 (GRCm38) missense possibly damaging 0.84
R8258:Ranbp2 UTSW 10 58,455,933 (GRCm38) missense probably benign 0.04
R8259:Ranbp2 UTSW 10 58,455,933 (GRCm38) missense probably benign 0.04
R8461:Ranbp2 UTSW 10 58,476,394 (GRCm38) missense probably damaging 0.97
R8722:Ranbp2 UTSW 10 58,476,227 (GRCm38) missense probably damaging 1.00
R8755:Ranbp2 UTSW 10 58,465,147 (GRCm38) nonsense probably null
R8794:Ranbp2 UTSW 10 58,492,592 (GRCm38) missense probably damaging 1.00
R8994:Ranbp2 UTSW 10 58,480,069 (GRCm38) missense possibly damaging 0.89
R9023:Ranbp2 UTSW 10 58,479,521 (GRCm38) nonsense probably null
R9124:Ranbp2 UTSW 10 58,492,897 (GRCm38) missense probably benign 0.01
R9133:Ranbp2 UTSW 10 58,477,228 (GRCm38) missense probably damaging 1.00
R9145:Ranbp2 UTSW 10 58,455,914 (GRCm38) missense probably benign 0.03
R9190:Ranbp2 UTSW 10 58,477,295 (GRCm38) missense probably damaging 1.00
R9369:Ranbp2 UTSW 10 58,480,664 (GRCm38) missense probably benign 0.04
R9394:Ranbp2 UTSW 10 58,455,876 (GRCm38) missense probably damaging 0.97
R9642:Ranbp2 UTSW 10 58,483,085 (GRCm38) missense probably damaging 0.99
R9673:Ranbp2 UTSW 10 58,465,141 (GRCm38) missense probably damaging 1.00
X0018:Ranbp2 UTSW 10 58,478,584 (GRCm38) missense probably benign 0.13
X0022:Ranbp2 UTSW 10 58,465,155 (GRCm38) missense probably benign 0.33
Z1088:Ranbp2 UTSW 10 58,492,893 (GRCm38) missense probably benign 0.35
Z1088:Ranbp2 UTSW 10 58,477,983 (GRCm38) frame shift probably null
Z1088:Ranbp2 UTSW 10 58,477,972 (GRCm38) frame shift probably null
Z1176:Ranbp2 UTSW 10 58,461,886 (GRCm38) missense probably damaging 1.00
Z1177:Ranbp2 UTSW 10 58,493,891 (GRCm38) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGGCCTGGAAAATGCTCAAG -3'
(R):5'- GGTGCAGTAGATAAACTTGGTG -3'

Sequencing Primer
(F):5'- GATCGATTTGCAACAATGACTGC -3'
(R):5'- TGCAGTAGATAAACTTGGTGTAACAG -3'
Posted On 2021-07-15