Incidental Mutation 'IGL02799:Ranbp2'
ID 392286
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02799 (G1)
Quality Score 192
Status Validated
Chromosome 10
Chromosomal Location 58282674-58329977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58316086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 2269 (F2269L)
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: F2269L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: F2269L

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 0.4312 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Rab11fip1 A T 8: 27,642,788 (GRCm39) D670E probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign 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
R0058:Ranbp2 UTSW 10 58,316,353 (GRCm39) missense probably damaging 0.98
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'- CATCGTGATGAGAAGGGACC -3'
(R):5'- AGAAGTGCTAGATGTTTCTCCAG -3'

Sequencing Primer
(F):5'- GGGACCAGGTATTAAAACTTTGTGCC -3'
(R):5'- AGATGTTTCTCCAGCTTCTGAAG -3'
Posted On 2016-06-09