Incidental Mutation 'R7424:Ranbp2'
ID 575933
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 045502-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7424 (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 G at 58479194 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 1912 (M1912R)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003310
AA Change: M1912R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: M1912R

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
Meta Mutation Damage Score 0.7516 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,145,545 (GRCm38) R71C probably damaging Het
Aanat A T 11: 116,595,629 (GRCm38) probably benign Het
Ahrr G T 13: 74,257,545 (GRCm38) S91* probably null Het
Ampd1 A T 3: 103,088,442 (GRCm38) N223Y probably benign Het
Ankar T G 1: 72,680,058 (GRCm38) N544T probably damaging Het
Ankk1 A G 9: 49,418,750 (GRCm38) S302P possibly damaging Het
Bcr T C 10: 75,157,100 (GRCm38) V809A probably benign Het
Bpifb2 A G 2: 153,890,540 (GRCm38) N353S possibly damaging Het
Cyth1 A T 11: 118,184,009 (GRCm38) probably null Het
Ddx5 A T 11: 106,782,180 (GRCm38) N506K probably benign Het
Dnaja1 A T 4: 40,730,244 (GRCm38) I239F probably benign Het
Ethe1 C T 7: 24,606,251 (GRCm38) T141I probably damaging Het
Fhip2b T C 14: 70,594,007 (GRCm38) H29R probably damaging Het
Gdap2 A T 3: 100,202,066 (GRCm38) I36F unknown Het
Gm13030 A T 4: 138,871,266 (GRCm38) D115E unknown Het
Gm17019 A T 5: 15,029,372 (GRCm38) L227Q probably damaging Het
Gm9195 T A 14: 72,435,777 (GRCm38) E2517D possibly damaging Het
Gramd2a T A 9: 59,708,071 (GRCm38) V39D possibly damaging Het
Hmcn1 C T 1: 150,630,266 (GRCm38) W3836* probably null Het
Hspa14 C T 2: 3,489,041 (GRCm38) D494N possibly damaging Het
Ifit2 A G 19: 34,573,198 (GRCm38) N46S probably benign Het
Ifna6 A T 4: 88,827,807 (GRCm38) E131V possibly damaging Het
Ift140 T C 17: 25,037,036 (GRCm38) V504A possibly damaging Het
Irgc T C 7: 24,432,228 (GRCm38) N388S probably damaging Het
Itgal T A 7: 127,317,365 (GRCm38) V743E probably benign Het
Itih5 T C 2: 10,245,637 (GRCm38) S716P probably damaging Het
Kcnab1 A T 3: 65,266,503 (GRCm38) K78N possibly damaging Het
Kif1a A T 1: 93,054,317 (GRCm38) V787E possibly damaging Het
Krt15 A T 11: 100,135,560 (GRCm38) V100E possibly damaging Het
Krt39 A T 11: 99,518,091 (GRCm38) V293E probably damaging Het
Lrrn4 A G 2: 132,869,743 (GRCm38) F720S possibly damaging Het
Map2 G A 1: 66,414,824 (GRCm38) A958T possibly damaging Het
Map3k9 A G 12: 81,724,097 (GRCm38) S906P probably benign Het
Mdc1 T C 17: 35,853,309 (GRCm38) S1250P probably benign Het
Meltf G A 16: 31,884,946 (GRCm38) V164I probably damaging Het
Mtap T G 4: 89,179,462 (GRCm38) probably null Het
Mtus1 C A 8: 41,022,406 (GRCm38) V184F probably damaging Het
Myh1 A T 11: 67,213,663 (GRCm38) D1015V probably damaging Het
Ndrg1 T C 15: 66,944,938 (GRCm38) probably null Het
Nkd1 G T 8: 88,585,175 (GRCm38) V130L probably benign Het
Nsfl1c A G 2: 151,500,753 (GRCm38) D81G probably benign Het
Nt5c1b T A 12: 10,381,391 (GRCm38) probably null Het
Nucb1 T C 7: 45,498,778 (GRCm38) K204E possibly damaging Het
Nwd1 T G 8: 72,675,173 (GRCm38) M774R possibly damaging Het
Or2m13 A T 16: 19,407,194 (GRCm38) V274E probably damaging Het
Or52u1 G C 7: 104,588,700 (GRCm38) E299Q probably damaging Het
Or5an1c A T 19: 12,240,954 (GRCm38) S236T possibly damaging Het
Pan3 T A 5: 147,536,272 (GRCm38) probably null Het
Pcdh15 A T 10: 74,506,485 (GRCm38) T1135S probably benign Het
Pfas A G 11: 69,000,092 (GRCm38) I331T probably damaging Het
Plxna2 T A 1: 194,806,339 (GRCm38) I1641N probably damaging Het
Pramel27 C T 4: 143,853,209 (GRCm38) P455S probably benign Het
Ptar1 A T 19: 23,718,101 (GRCm38) R311W probably damaging Het
Rbm12 A G 2: 156,097,303 (GRCm38) F350L possibly damaging Het
Sdhaf1 T C 7: 30,322,043 (GRCm38) D96G probably benign Het
Serpinb6b T A 13: 32,968,667 (GRCm38) M53K probably damaging Het
Sh2d6 A T 6: 72,517,164 (GRCm38) L147Q probably benign Het
Slc19a2 T A 1: 164,260,876 (GRCm38) C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 (GRCm38) probably benign Het
St8sia2 T A 7: 73,960,902 (GRCm38) Q211L possibly damaging Het
Sult2a2 T C 7: 13,734,897 (GRCm38) I96T possibly damaging Het
Tab2 G T 10: 7,907,483 (GRCm38) H678Q probably damaging Het
Tnfaip6 A G 2: 52,038,216 (GRCm38) E14G probably benign Het
Trip11 A T 12: 101,885,198 (GRCm38) L869H probably damaging Het
Tslp T C 18: 32,819,080 (GRCm38) Y133H not run Het
Ttn A G 2: 76,932,143 (GRCm38) V3374A unknown Het
Ttn T C 2: 76,740,990 (GRCm38) I26520V probably damaging Het
Tubgcp2 T A 7: 140,007,924 (GRCm38) I263F possibly damaging Het
Uaca A G 9: 60,870,110 (GRCm38) E593G probably damaging Het
Unc13b C T 4: 43,172,235 (GRCm38) T1021I unknown Het
Ush1c T A 7: 46,225,555 (GRCm38) I131F probably benign Het
Usp24 C A 4: 106,379,107 (GRCm38) D997E probably benign Het
Usp54 T C 14: 20,577,040 (GRCm38) T517A probably benign Het
Vmn1r151 A T 7: 22,499,080 (GRCm38) M200K possibly damaging Het
Vmn2r43 T C 7: 8,255,329 (GRCm38) D295G probably damaging Het
Vmn2r70 G A 7: 85,563,868 (GRCm38) P444S probably damaging Het
Vmn2r85 G T 10: 130,418,980 (GRCm38) P612T probably damaging Het
Vps13d A T 4: 145,148,747 (GRCm38) V1736D Het
Zbtb11 A T 16: 55,990,487 (GRCm38) H336L 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
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
R8879:Ranbp2 UTSW 10 58,477,889 (GRCm38) missense probably benign 0.10
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'- TTGAGCCAGTAGTGCAGATG -3'
(R):5'- TAAGAGAAGACGTTGACACTCCTC -3'

Sequencing Primer
(F):5'- CCAGTAGTGCAGATGCCAGAAAAG -3'
(R):5'- GAATTCTTCAGCTAGCTCTGGCG -3'
Posted On 2019-10-07