Incidental Mutation 'R0058:Ranbp2'
ID 34359
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 038352-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0058 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58282674-58329977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 58316353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 2358 (S2358T)
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: S2358T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: S2358T

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 0.0718 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.8%
Validation Efficiency 100% (74/74)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache T G 5: 137,289,104 (GRCm39) V270G probably damaging Het
Acss1 A T 2: 150,470,459 (GRCm39) W394R probably damaging Het
Adgrv1 A G 13: 81,330,791 (GRCm39) V6088A possibly damaging Het
Ankrd36 A G 11: 5,580,691 (GRCm39) probably benign Het
Anxa1 A T 19: 20,361,141 (GRCm39) Y84N probably damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Avpr1b A G 1: 131,527,524 (GRCm39) T16A probably benign Het
Bpifb1 G A 2: 154,048,460 (GRCm39) R165H possibly damaging Het
Cables1 A G 18: 12,056,470 (GRCm39) E316G possibly damaging Het
Cadm1 A T 9: 47,761,629 (GRCm39) I427L probably damaging Het
Ccdc97 T C 7: 25,415,405 (GRCm39) D86G probably benign Het
Cgnl1 C A 9: 71,548,679 (GRCm39) D1081Y probably damaging Het
Cgnl1 T A 9: 71,632,122 (GRCm39) R410W probably damaging Het
Cntnap4 G A 8: 113,512,416 (GRCm39) E593K probably damaging Het
Dazap1 T C 10: 80,097,415 (GRCm39) probably benign Het
Dip2b A G 15: 100,113,121 (GRCm39) E1512G probably benign Het
Dock1 G A 7: 134,710,490 (GRCm39) V1171M possibly damaging Het
Dock5 A T 14: 68,018,485 (GRCm39) F1230Y probably benign Het
Dym G A 18: 75,176,243 (GRCm39) E15K possibly damaging Het
Ednra C A 8: 78,393,951 (GRCm39) probably null Het
Faf1 A G 4: 109,593,821 (GRCm39) Q133R probably benign Het
Fbxw28 A G 9: 109,157,279 (GRCm39) I323T probably benign Het
Fcer2a T C 8: 3,738,111 (GRCm39) probably benign Het
Fmo2 A T 1: 162,713,893 (GRCm39) S204R probably benign Het
Frmd4b A G 6: 97,400,460 (GRCm39) V63A probably damaging Het
Fzd8 G A 18: 9,213,985 (GRCm39) A356T possibly damaging Het
Ghitm A G 14: 36,853,549 (GRCm39) L97P probably damaging Het
Gins4 A G 8: 23,719,526 (GRCm39) probably benign Het
Golga3 T A 5: 110,350,643 (GRCm39) F766Y possibly damaging Het
Hapln1 T C 13: 89,755,997 (GRCm39) I267T probably benign Het
Helz A T 11: 107,563,384 (GRCm39) probably benign Het
Herc2 T C 7: 55,820,231 (GRCm39) V2851A possibly damaging Het
Igkv8-18 G A 6: 70,333,105 (GRCm39) probably benign Het
Igll1 A T 16: 16,681,740 (GRCm39) V5E probably benign Het
Irx3 T C 8: 92,527,168 (GRCm39) T179A possibly damaging Het
Kif16b A G 2: 142,699,225 (GRCm39) probably null Het
Limk1 A T 5: 134,688,725 (GRCm39) W507R probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mtif3 C A 5: 146,893,731 (GRCm39) V159F probably benign Het
Myh6 C T 14: 55,200,861 (GRCm39) R169Q probably damaging Het
Ncoa7 T A 10: 30,523,537 (GRCm39) D887V probably damaging Het
Obox7 C T 7: 14,398,313 (GRCm39) P76S probably benign Het
Or10ak12 A G 4: 118,666,677 (GRCm39) M128T probably benign Het
Or11l3 A T 11: 58,516,494 (GRCm39) I126N probably damaging Het
Pitpnm2 G A 5: 124,262,093 (GRCm39) A862V probably damaging Het
Pkd1 G C 17: 24,783,677 (GRCm39) A162P probably benign Het
Plce1 A G 19: 38,513,628 (GRCm39) D309G possibly damaging Het
Plk4 T C 3: 40,760,307 (GRCm39) V401A probably benign Het
Prdx3 T C 19: 60,862,950 (GRCm39) probably benign Het
Prrc2c C T 1: 162,526,453 (GRCm39) V253I unknown Het
Setd2 T A 9: 110,423,494 (GRCm39) V2183E probably damaging Het
Sgsm1 T A 5: 113,432,953 (GRCm39) S232C probably damaging Het
Skint6 A T 4: 112,904,012 (GRCm39) probably benign Het
Slc15a2 A G 16: 36,574,909 (GRCm39) I531T probably benign Het
Slc36a1 C T 11: 55,112,820 (GRCm39) probably benign Het
Sorbs2 C A 8: 46,249,300 (GRCm39) D831E probably damaging Het
Sorbs2 T A 8: 46,238,291 (GRCm39) probably null Het
Sptan1 T C 2: 29,883,708 (GRCm39) probably null Het
Stam T C 2: 14,142,952 (GRCm39) C336R probably damaging Het
Stil G T 4: 114,898,495 (GRCm39) A1042S probably damaging Het
Stxbp5l T A 16: 36,962,736 (GRCm39) D773V possibly damaging Het
Sugct A T 13: 17,847,166 (GRCm39) L39Q probably damaging Het
Tep1 A G 14: 51,071,522 (GRCm39) V2041A possibly damaging Het
Tex15 C T 8: 34,071,530 (GRCm39) probably benign Het
Tlr9 T G 9: 106,102,164 (GRCm39) L485R possibly damaging Het
Tmem207 A G 16: 26,343,579 (GRCm39) probably benign Het
Triml2 T C 8: 43,638,306 (GRCm39) probably benign Het
Trip6 A G 5: 137,309,107 (GRCm39) probably benign Het
Tspear T C 10: 77,705,465 (GRCm39) F288L probably benign Het
Vmn1r179 C T 7: 23,628,592 (GRCm39) T261I possibly damaging Het
Zfp644 A T 5: 106,784,869 (GRCm39) S559R possibly damaging Het
Other mutations in Ranbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ranbp2 APN 10 58,313,078 (GRCm39) missense probably damaging 1.00
IGL00336:Ranbp2 APN 10 58,287,806 (GRCm39) missense probably damaging 1.00
IGL00486:Ranbp2 APN 10 58,313,434 (GRCm39) missense probably benign 0.06
IGL00800:Ranbp2 APN 10 58,326,526 (GRCm39) missense probably benign
IGL00834:Ranbp2 APN 10 58,289,145 (GRCm39) missense possibly damaging 0.94
IGL00852:Ranbp2 APN 10 58,313,723 (GRCm39) missense probably benign
IGL00984:Ranbp2 APN 10 58,297,786 (GRCm39) nonsense probably null
IGL01299:Ranbp2 APN 10 58,328,639 (GRCm39) missense probably damaging 1.00
IGL01325:Ranbp2 APN 10 58,312,120 (GRCm39) missense probably damaging 0.99
IGL01444:Ranbp2 APN 10 58,311,122 (GRCm39) missense possibly damaging 0.79
IGL01545:Ranbp2 APN 10 58,314,703 (GRCm39) missense possibly damaging 0.48
IGL01619:Ranbp2 APN 10 58,299,900 (GRCm39) splice site probably null
IGL01782:Ranbp2 APN 10 58,314,131 (GRCm39) missense probably damaging 0.97
IGL02020:Ranbp2 APN 10 58,315,769 (GRCm39) missense probably damaging 1.00
IGL02096:Ranbp2 APN 10 58,297,789 (GRCm39) missense probably damaging 1.00
IGL02182:Ranbp2 APN 10 58,321,582 (GRCm39) nonsense probably null
IGL02211:Ranbp2 APN 10 58,314,064 (GRCm39) missense probably benign
IGL02249:Ranbp2 APN 10 58,315,900 (GRCm39) missense possibly damaging 0.89
IGL02268:Ranbp2 APN 10 58,329,475 (GRCm39) unclassified probably benign
IGL02421:Ranbp2 APN 10 58,316,376 (GRCm39) missense probably damaging 1.00
IGL03080:Ranbp2 APN 10 58,312,613 (GRCm39) missense probably benign 0.01
IGL03119:Ranbp2 APN 10 58,287,825 (GRCm39) missense probably damaging 1.00
IGL03206:Ranbp2 APN 10 58,301,369 (GRCm39) missense probably damaging 1.00
IGL03237:Ranbp2 APN 10 58,328,783 (GRCm39) missense probably damaging 0.98
En_passant UTSW 10 58,287,839 (GRCm39) missense probably damaging 1.00
red_river UTSW 10 58,301,489 (GRCm39) missense probably damaging 1.00
IGL02799:Ranbp2 UTSW 10 58,316,086 (GRCm39) missense probably damaging 1.00
R0058:Ranbp2 UTSW 10 58,316,353 (GRCm39) missense probably damaging 0.98
R0145:Ranbp2 UTSW 10 58,315,868 (GRCm39) missense probably damaging 1.00
R0309:Ranbp2 UTSW 10 58,315,690 (GRCm39) missense probably benign 0.04
R0375:Ranbp2 UTSW 10 58,313,105 (GRCm39) missense probably damaging 1.00
R0441:Ranbp2 UTSW 10 58,321,590 (GRCm39) missense probably benign 0.40
R0494:Ranbp2 UTSW 10 58,303,254 (GRCm39) missense possibly damaging 0.53
R0542:Ranbp2 UTSW 10 58,314,236 (GRCm39) missense probably benign 0.02
R0565:Ranbp2 UTSW 10 58,312,158 (GRCm39) missense probably benign 0.41
R0608:Ranbp2 UTSW 10 58,329,720 (GRCm39) missense probably damaging 1.00
R0661:Ranbp2 UTSW 10 58,314,555 (GRCm39) missense probably benign
R0670:Ranbp2 UTSW 10 58,316,520 (GRCm39) missense probably benign 0.01
R0760:Ranbp2 UTSW 10 58,312,613 (GRCm39) missense possibly damaging 0.70
R0811:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.01
R0812:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.01
R1180:Ranbp2 UTSW 10 58,301,285 (GRCm39) missense probably damaging 1.00
R1196:Ranbp2 UTSW 10 58,312,875 (GRCm39) missense probably damaging 1.00
R1216:Ranbp2 UTSW 10 58,319,034 (GRCm39) splice site probably benign
R1374:Ranbp2 UTSW 10 58,321,715 (GRCm39) splice site probably benign
R1541:Ranbp2 UTSW 10 58,318,916 (GRCm39) missense possibly damaging 0.90
R1589:Ranbp2 UTSW 10 58,299,808 (GRCm39) missense probably benign 0.01
R1711:Ranbp2 UTSW 10 58,296,341 (GRCm39) missense probably benign 0.11
R1761:Ranbp2 UTSW 10 58,321,563 (GRCm39) missense probably benign 0.02
R1831:Ranbp2 UTSW 10 58,315,044 (GRCm39) nonsense probably null
R1840:Ranbp2 UTSW 10 58,314,588 (GRCm39) missense probably benign 0.41
R1869:Ranbp2 UTSW 10 58,328,383 (GRCm39) missense probably damaging 1.00
R1871:Ranbp2 UTSW 10 58,328,383 (GRCm39) missense probably damaging 1.00
R1892:Ranbp2 UTSW 10 58,299,921 (GRCm39) missense probably benign 0.36
R2270:Ranbp2 UTSW 10 58,291,749 (GRCm39) missense probably benign 0.06
R2363:Ranbp2 UTSW 10 58,314,758 (GRCm39) missense possibly damaging 0.79
R3844:Ranbp2 UTSW 10 58,313,717 (GRCm39) missense possibly damaging 0.87
R3937:Ranbp2 UTSW 10 58,312,294 (GRCm39) missense probably benign 0.00
R3938:Ranbp2 UTSW 10 58,312,294 (GRCm39) missense probably benign 0.00
R4025:Ranbp2 UTSW 10 58,316,378 (GRCm39) missense probably benign 0.23
R4183:Ranbp2 UTSW 10 58,301,488 (GRCm39) missense possibly damaging 0.53
R4247:Ranbp2 UTSW 10 58,314,686 (GRCm39) missense possibly damaging 0.79
R4334:Ranbp2 UTSW 10 58,299,816 (GRCm39) missense probably damaging 1.00
R4656:Ranbp2 UTSW 10 58,289,244 (GRCm39) missense possibly damaging 0.82
R4746:Ranbp2 UTSW 10 58,328,492 (GRCm39) missense probably damaging 1.00
R4852:Ranbp2 UTSW 10 58,312,878 (GRCm39) missense possibly damaging 0.94
R4863:Ranbp2 UTSW 10 58,328,243 (GRCm39) missense probably damaging 0.99
R5011:Ranbp2 UTSW 10 58,297,717 (GRCm39) missense probably benign 0.36
R5014:Ranbp2 UTSW 10 58,299,942 (GRCm39) missense probably benign 0.40
R5145:Ranbp2 UTSW 10 58,315,860 (GRCm39) missense probably damaging 1.00
R5178:Ranbp2 UTSW 10 58,312,607 (GRCm39) missense probably benign 0.01
R5199:Ranbp2 UTSW 10 58,300,265 (GRCm39) missense probably benign
R5294:Ranbp2 UTSW 10 58,314,490 (GRCm39) missense probably benign 0.23
R5508:Ranbp2 UTSW 10 58,315,827 (GRCm39) missense probably damaging 0.97
R5511:Ranbp2 UTSW 10 58,329,561 (GRCm39) missense probably benign 0.29
R5575:Ranbp2 UTSW 10 58,328,405 (GRCm39) missense probably damaging 1.00
R5617:Ranbp2 UTSW 10 58,301,489 (GRCm39) missense probably damaging 1.00
R5630:Ranbp2 UTSW 10 58,314,898 (GRCm39) missense probably damaging 1.00
R5733:Ranbp2 UTSW 10 58,321,658 (GRCm39) missense probably damaging 1.00
R5751:Ranbp2 UTSW 10 58,300,086 (GRCm39) splice site probably null
R5767:Ranbp2 UTSW 10 58,312,647 (GRCm39) missense probably benign 0.02
R6122:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.02
R6147:Ranbp2 UTSW 10 58,315,250 (GRCm39) missense probably damaging 1.00
R6286:Ranbp2 UTSW 10 58,315,394 (GRCm39) missense probably benign 0.02
R6344:Ranbp2 UTSW 10 58,319,708 (GRCm39) splice site probably null
R6452:Ranbp2 UTSW 10 58,313,979 (GRCm39) missense probably benign 0.00
R6487:Ranbp2 UTSW 10 58,321,563 (GRCm39) missense probably benign 0.02
R6620:Ranbp2 UTSW 10 58,291,629 (GRCm39) critical splice acceptor site probably null
R6759:Ranbp2 UTSW 10 58,293,559 (GRCm39) nonsense probably null
R7010:Ranbp2 UTSW 10 58,290,393 (GRCm39) critical splice acceptor site probably null
R7071:Ranbp2 UTSW 10 58,328,659 (GRCm39) missense probably damaging 1.00
R7083:Ranbp2 UTSW 10 58,315,052 (GRCm39) missense probably damaging 1.00
R7088:Ranbp2 UTSW 10 58,299,728 (GRCm39) missense probably damaging 1.00
R7102:Ranbp2 UTSW 10 58,299,772 (GRCm39) missense probably damaging 1.00
R7194:Ranbp2 UTSW 10 58,312,591 (GRCm39) missense probably benign 0.05
R7217:Ranbp2 UTSW 10 58,287,839 (GRCm39) missense probably damaging 1.00
R7318:Ranbp2 UTSW 10 58,318,909 (GRCm39) nonsense probably null
R7341:Ranbp2 UTSW 10 58,321,619 (GRCm39) missense possibly damaging 0.72
R7398:Ranbp2 UTSW 10 58,303,099 (GRCm39) missense probably damaging 1.00
R7424:Ranbp2 UTSW 10 58,315,016 (GRCm39) missense probably damaging 0.98
R7727:Ranbp2 UTSW 10 58,291,260 (GRCm39) missense probably benign 0.09
R7795:Ranbp2 UTSW 10 58,319,729 (GRCm39) nonsense probably null
R7812:Ranbp2 UTSW 10 58,303,224 (GRCm39) missense probably benign
R7845:Ranbp2 UTSW 10 58,282,844 (GRCm39) missense probably damaging 1.00
R7875:Ranbp2 UTSW 10 58,314,277 (GRCm39) nonsense probably null
R7934:Ranbp2 UTSW 10 58,312,297 (GRCm39) missense probably damaging 0.98
R8022:Ranbp2 UTSW 10 58,321,683 (GRCm39) missense possibly damaging 0.53
R8050:Ranbp2 UTSW 10 58,315,441 (GRCm39) missense probably damaging 0.99
R8100:Ranbp2 UTSW 10 58,326,470 (GRCm39) missense possibly damaging 0.58
R8194:Ranbp2 UTSW 10 58,291,747 (GRCm39) missense possibly damaging 0.84
R8258:Ranbp2 UTSW 10 58,291,755 (GRCm39) missense probably benign 0.04
R8259:Ranbp2 UTSW 10 58,291,755 (GRCm39) missense probably benign 0.04
R8461:Ranbp2 UTSW 10 58,312,216 (GRCm39) missense probably damaging 0.97
R8722:Ranbp2 UTSW 10 58,312,049 (GRCm39) missense probably damaging 1.00
R8755:Ranbp2 UTSW 10 58,300,969 (GRCm39) nonsense probably null
R8794:Ranbp2 UTSW 10 58,328,414 (GRCm39) missense probably damaging 1.00
R8879:Ranbp2 UTSW 10 58,313,711 (GRCm39) missense probably benign 0.10
R8994:Ranbp2 UTSW 10 58,315,891 (GRCm39) missense possibly damaging 0.89
R9023:Ranbp2 UTSW 10 58,315,343 (GRCm39) nonsense probably null
R9124:Ranbp2 UTSW 10 58,328,719 (GRCm39) missense probably benign 0.01
R9133:Ranbp2 UTSW 10 58,313,050 (GRCm39) missense probably damaging 1.00
R9145:Ranbp2 UTSW 10 58,291,736 (GRCm39) missense probably benign 0.03
R9190:Ranbp2 UTSW 10 58,313,117 (GRCm39) missense probably damaging 1.00
R9369:Ranbp2 UTSW 10 58,316,486 (GRCm39) missense probably benign 0.04
R9394:Ranbp2 UTSW 10 58,291,698 (GRCm39) missense probably damaging 0.97
R9642:Ranbp2 UTSW 10 58,318,907 (GRCm39) missense probably damaging 0.99
R9673:Ranbp2 UTSW 10 58,300,963 (GRCm39) missense probably damaging 1.00
X0018:Ranbp2 UTSW 10 58,314,406 (GRCm39) missense probably benign 0.13
X0022:Ranbp2 UTSW 10 58,300,977 (GRCm39) missense probably benign 0.33
Z1088:Ranbp2 UTSW 10 58,328,715 (GRCm39) missense probably benign 0.35
Z1088:Ranbp2 UTSW 10 58,313,805 (GRCm39) frame shift probably null
Z1088:Ranbp2 UTSW 10 58,313,794 (GRCm39) frame shift probably null
Z1176:Ranbp2 UTSW 10 58,297,708 (GRCm39) missense probably damaging 1.00
Z1177:Ranbp2 UTSW 10 58,329,713 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCTCATCTGAGCACCCCTAGAGAGTC -3'
(R):5'- CGAACGATACTGTCTCTTCAGTGGTC -3'

Sequencing Primer
(F):5'- GAGAGTCACCATGTGGCAAAA -3'
(R):5'- GACTTTGCCATCAGAAGATTGC -3'
Posted On 2013-05-09