Incidental Mutation 'R4656:Ranbp2'
ID 397259
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 041916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4656 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 58282674-58329977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 58289244 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 84 (K84R)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000003310
AA Change: K84R

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: K84R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220131
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (80/83)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,112,534 (GRCm39) probably benign Het
4931406B18Rik T A 7: 43,150,565 (GRCm39) H69L probably benign Het
Ace2 T C X: 162,936,110 (GRCm39) S84P probably benign Het
Adgb A C 10: 10,281,050 (GRCm39) N656K probably damaging Het
Ago3 G T 4: 126,257,545 (GRCm39) Y495* probably null Het
Ahnak G A 19: 8,982,219 (GRCm39) V1168M possibly damaging Het
Armc10 A G 5: 21,866,548 (GRCm39) R271G probably benign Het
Atp4a T G 7: 30,419,373 (GRCm39) probably benign Het
Casp1 C T 9: 5,304,324 (GRCm39) P333S probably damaging Het
Ceacam9 C T 7: 16,457,574 (GRCm39) A34V probably benign Het
Ces1b C G 8: 93,784,042 (GRCm39) E488Q probably damaging Het
Ces2h A T 8: 105,741,271 (GRCm39) T88S possibly damaging Het
Cfap410 G A 10: 77,817,450 (GRCm39) R59H probably benign Het
Col2a1 C T 15: 97,874,057 (GRCm39) G1375D unknown Het
Cyp1a1 T C 9: 57,609,893 (GRCm39) F436L probably damaging Het
Dcaf7 T C 11: 105,944,624 (GRCm39) V269A probably damaging Het
Disp2 T C 2: 118,621,044 (GRCm39) L592P probably damaging Het
Eda2r T A X: 96,385,239 (GRCm39) Q171L probably damaging Het
Egln2 A G 7: 26,858,618 (GRCm39) V408A probably benign Het
Gabpb2 A G 3: 95,096,252 (GRCm39) L325P probably damaging Het
Gigyf1 C A 5: 137,523,477 (GRCm39) Y936* probably null Het
Gm14149 A T 2: 151,072,684 (GRCm39) noncoding transcript Het
Gnl2 C T 4: 124,934,790 (GRCm39) Q149* probably null Het
Gpr107 C T 2: 31,104,261 (GRCm39) T522M probably damaging Het
Grpr T A X: 162,297,992 (GRCm39) S351C probably damaging Het
Gsdma T C 11: 98,563,907 (GRCm39) L287P probably damaging Het
Herc1 A G 9: 66,301,993 (GRCm39) T652A probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Irx2 T C 13: 72,779,417 (GRCm39) S234P probably damaging Het
Itgal T A 7: 126,921,725 (GRCm39) D808E probably damaging Het
Krt13 C A 11: 100,010,189 (GRCm39) R264L probably damaging Het
Marchf1 T A 8: 66,839,071 (GRCm39) L38I probably benign Het
Megf9 T C 4: 70,367,004 (GRCm39) H326R probably damaging Het
Mif4gd G T 11: 115,499,163 (GRCm39) probably benign Het
Mroh9 A T 1: 162,893,593 (GRCm39) M194K probably damaging Het
Nhlrc3 A G 3: 53,370,501 (GRCm39) S22P probably damaging Het
Nipal2 A T 15: 34,577,714 (GRCm39) probably null Het
Nr1h4 A G 10: 89,334,115 (GRCm39) S78P probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Olfr908 A T 9: 38,427,852 (GRCm39) N175Y probably damaging Het
Or1e30 A T 11: 73,678,337 (GRCm39) D191V probably damaging Het
Or52d13 C T 7: 103,109,695 (GRCm39) R235Q probably benign Het
Pdzd2 A G 15: 12,385,797 (GRCm39) V991A probably benign Het
Pex1 G A 5: 3,654,880 (GRCm39) probably null Het
Plch1 G T 3: 63,611,598 (GRCm39) A859E probably damaging Het
Pramel32 T C 4: 88,548,202 (GRCm39) T68A probably benign Het
Rbm14 T C 19: 4,861,463 (GRCm39) Y25C probably damaging Het
Rmi2 A G 16: 10,653,186 (GRCm39) D78G probably damaging Het
Serpina3k C A 12: 104,311,532 (GRCm39) T370K probably damaging Het
Shc2 A T 10: 79,457,003 (GRCm39) L538M probably damaging Het
Skint1 A G 4: 111,878,674 (GRCm39) K202R probably damaging Het
Slc22a29 C A 19: 8,195,664 (GRCm39) S125I possibly damaging Het
Slc5a9 C A 4: 111,748,941 (GRCm39) probably null Het
Slco4c1 A T 1: 96,768,970 (GRCm39) D297E probably benign Het
Slco6d1 T C 1: 98,350,928 (GRCm39) F136S probably benign Het
Smg1 A T 7: 117,812,174 (GRCm39) V39E probably benign Het
Spns1 G T 7: 125,973,474 (GRCm39) probably benign Het
Spsb1 A G 4: 149,990,867 (GRCm39) probably null Het
Sspo T G 6: 48,431,010 (GRCm39) I631S possibly damaging Het
Syne2 T C 12: 76,078,147 (GRCm39) L4694P probably damaging Het
Taf5l T C 8: 124,724,844 (GRCm39) E325G probably benign Het
Tars1 A T 15: 11,394,350 (GRCm39) S96T probably damaging Het
Tdrd12 T C 7: 35,184,679 (GRCm39) K745E probably damaging Het
Tenm3 A G 8: 48,746,761 (GRCm39) Y1015H probably damaging Het
Trpv3 T A 11: 73,186,240 (GRCm39) M677K probably damaging Het
Txlnb A T 10: 17,691,024 (GRCm39) K191N probably damaging Het
Ubr1 A G 2: 120,756,494 (GRCm39) V711A probably benign Het
Uqcrb T C 13: 67,049,603 (GRCm39) T41A probably benign Het
Usp6nl A G 2: 6,445,973 (GRCm39) Y627C probably damaging Het
Vezf1 A G 11: 87,965,493 (GRCm39) D245G probably damaging Het
Vmn2r66 A G 7: 84,661,204 (GRCm39) W9R possibly damaging Het
Wdr17 C T 8: 55,134,434 (GRCm39) G349R probably damaging Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Wrn A T 8: 33,826,019 (GRCm39) probably null Het
Zfy1 T G Y: 729,626 (GRCm39) T339P unknown 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
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
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'- TGGTAGCCAGTAATTGAGCTAC -3'
(R):5'- ACTTATTACAACCCCTGCAAGG -3'

Sequencing Primer
(F):5'- TGGTTTAGGCTGTAATCTACTATCAG -3'
(R):5'- CTGCGCACTATGTATGTGTCAG -3'
Posted On 2016-06-30