Incidental Mutation 'R5511:Ranbp2'
ID 431234
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 043072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5511 (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 58329561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 2978 (D2978G)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310] [ENSMUST00000036576]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003310
AA Change: D2978G

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: D2978G

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 probably benign
Transcript: ENSMUST00000036576
SMART Domains Protein: ENSMUSP00000043040
Gene: ENSMUSG00000038010

DomainStartEndE-ValueType
coiled coil region 259 339 N/A INTRINSIC
low complexity region 355 365 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217992
Meta Mutation Damage Score 0.1723 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency 98% (81/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,654,685 (GRCm39) L173P probably damaging Het
Agl A T 3: 116,582,209 (GRCm39) V271D possibly damaging Het
Alox15 G T 11: 70,240,808 (GRCm39) P191T probably benign Het
Apaf1 T C 10: 90,890,254 (GRCm39) Y583C probably damaging Het
Aqp9 T A 9: 71,070,375 (GRCm39) probably benign Het
Bms1 A G 6: 118,365,848 (GRCm39) F1113L possibly damaging Het
Cap1 A C 4: 122,756,583 (GRCm39) probably benign Het
Car11 T C 7: 45,349,885 (GRCm39) W35R probably damaging Het
Casc3 T A 11: 98,701,740 (GRCm39) Y91* probably null Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cd22 A T 7: 30,569,496 (GRCm39) I540N probably damaging Het
Chad A T 11: 94,456,072 (GRCm39) E50V probably damaging Het
Chd3 C G 11: 69,252,301 (GRCm39) G34R probably damaging Het
Col9a1 T C 1: 24,218,619 (GRCm39) V77A unknown Het
Copg1 G A 6: 87,889,276 (GRCm39) V873M probably damaging Het
Dnhd1 T A 7: 105,363,363 (GRCm39) V3975E probably damaging Het
Dock6 A T 9: 21,728,703 (GRCm39) V1290D possibly damaging Het
Elp2 A T 18: 24,745,507 (GRCm39) K150* probably null Het
Eri3 A C 4: 117,472,386 (GRCm39) Y260S possibly damaging Het
Esrrg C T 1: 187,943,304 (GRCm39) L426F probably damaging Het
Farp1 G T 14: 121,474,584 (GRCm39) V266L probably damaging Het
Flnc A G 6: 29,458,897 (GRCm39) E2459G probably damaging Het
Glis1 G A 4: 107,293,074 (GRCm39) D66N probably damaging Het
Gm14129 T A 2: 148,773,446 (GRCm39) noncoding transcript Het
Gm28051 A G 12: 102,686,415 (GRCm39) *82R probably null Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gne C T 4: 44,041,843 (GRCm39) V485M probably damaging Het
Lcn10 T A 2: 25,572,841 (GRCm39) V15E probably benign Het
Mapk11 T A 15: 89,029,380 (GRCm39) probably null Het
Me3 T G 7: 89,455,876 (GRCm39) Y243D probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myo1h T A 5: 114,483,958 (GRCm39) L519* probably null Het
Myo9a T C 9: 59,687,495 (GRCm39) V200A probably damaging Het
Mzf1 T A 7: 12,785,526 (GRCm39) Q161H possibly damaging Het
Nim1k T G 13: 120,189,130 (GRCm39) H93P probably damaging Het
Nkx6-1 C A 5: 101,811,532 (GRCm39) R190L probably damaging Het
Noc3l A G 19: 38,782,625 (GRCm39) V671A probably benign Het
Nsd1 T C 13: 55,460,543 (GRCm39) S2257P probably benign Het
Nup210 T A 6: 91,003,945 (GRCm39) I648F probably damaging Het
Oplah T C 15: 76,189,944 (GRCm39) E223G possibly damaging Het
Or5b120 T C 19: 13,480,556 (GRCm39) M283T probably benign Het
Plekhs1 A C 19: 56,474,224 (GRCm39) T457P probably damaging Het
Plppr4 G A 3: 117,119,551 (GRCm39) T286I probably benign Het
Prpf4b T C 13: 35,068,037 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,878 (GRCm39) D318E possibly damaging Het
Psap A G 10: 60,134,959 (GRCm39) E289G possibly damaging Het
Rad17 A G 13: 100,764,157 (GRCm39) V438A possibly damaging Het
Raf1 T C 6: 115,597,217 (GRCm39) S28G probably benign Het
Rnf170 T A 8: 26,631,027 (GRCm39) D213E probably damaging Het
Rsph3a T A 17: 8,164,905 (GRCm39) H88Q possibly damaging Het
Scd1 A G 19: 44,395,198 (GRCm39) I9T probably benign Het
Sgk3 T C 1: 9,968,911 (GRCm39) probably benign Het
Slc14a1 C T 18: 78,145,686 (GRCm39) S416N probably benign Het
Smok4a T C 17: 13,746,474 (GRCm39) noncoding transcript Het
Sostdc1 A T 12: 36,367,165 (GRCm39) I114F probably damaging Het
Spen G A 4: 141,202,375 (GRCm39) T2084I possibly damaging Het
Spen G T 4: 141,244,149 (GRCm39) D295E unknown Het
Sptbn5 T C 2: 119,890,202 (GRCm39) probably benign Het
Srebf1 T C 11: 60,101,184 (GRCm39) probably benign Het
Tcea3 A T 4: 135,998,683 (GRCm39) Y319F probably damaging Het
Timd4 T A 11: 46,710,807 (GRCm39) probably null Het
Tmem88b G A 4: 155,870,002 (GRCm39) P20S probably damaging Het
Tsen2 T A 6: 115,538,365 (GRCm39) C281S probably damaging Het
Vmn2r28 T C 7: 5,487,011 (GRCm39) T551A possibly damaging Het
Vmn2r45 T C 7: 8,474,832 (GRCm39) H732R probably benign Het
Wdr90 A G 17: 26,063,995 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,344,836 (GRCm39) S1072P probably benign Het
Zfp148 A G 16: 33,255,004 (GRCm39) probably benign Het
Zfp2 T A 11: 50,790,851 (GRCm39) E397D probably damaging Het
Zfp729b A G 13: 67,740,499 (GRCm39) F599L probably 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
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
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'- GAATCCCCAGACTTGACCTC -3'
(R):5'- TACTAACAGACCCTTTAGGAGAACC -3'

Sequencing Primer
(F):5'- GGCTGGCTTCAAACTTACAG -3'
(R):5'- GACCCTTTAGGAGAACCAAATGATTC -3'
Posted On 2016-10-05