Incidental Mutation 'R6142:Ranbp3'
ID 488646
Institutional Source Beutler Lab
Gene Symbol Ranbp3
Ensembl Gene ENSMUSG00000002372
Gene Name RAN binding protein 3
Synonyms 2610024N24Rik
MMRRC Submission 044289-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R6142 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 56980294-57018764 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56993018 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 12 (V12A)
Ref Sequence ENSEMBL: ENSMUSP00000002445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002445]
AlphaFold Q9CT10
Predicted Effect probably benign
Transcript: ENSMUST00000002445
AA Change: V12A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000002445
Gene: ENSMUSG00000002372
AA Change: V12A

DomainStartEndE-ValueType
low complexity region 275 287 N/A INTRINSIC
RanBD 305 432 1.7e-12 SMART
low complexity region 439 454 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 94.2%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy6 T C 15: 98,496,303 (GRCm39) M579V probably benign Het
Agtr1b T C 3: 20,370,558 (GRCm39) D16G probably benign Het
Akap12 C A 10: 4,263,740 (GRCm39) probably null Het
Alpk2 T C 18: 65,438,456 (GRCm39) E979G possibly damaging Het
Arfgap3 T C 15: 83,234,328 (GRCm39) D8G probably damaging Het
AW551984 G T 9: 39,508,410 (GRCm39) L369I probably benign Het
Bmp8b A T 4: 123,009,043 (GRCm39) H207L probably benign Het
Cc2d2a G T 5: 43,860,540 (GRCm39) V490F probably damaging Het
Cnot6l C T 5: 96,230,837 (GRCm39) V377I probably benign Het
Col25a1 T A 3: 130,376,978 (GRCm39) probably benign Het
Crocc2 C G 1: 93,118,201 (GRCm39) Q375E possibly damaging Het
Ganc T C 2: 120,261,218 (GRCm39) probably null Het
Gm28168 C A 1: 117,875,678 (GRCm39) D102E probably benign Het
Gm8212 T C 14: 44,438,684 (GRCm39) probably null Het
Gria2 T C 3: 80,709,024 (GRCm39) T53A probably benign Het
Hipk4 G A 7: 27,228,590 (GRCm39) V347M probably damaging Het
Hmgxb3 T C 18: 61,269,309 (GRCm39) E991G probably benign Het
Hyal1 G A 9: 107,456,573 (GRCm39) R420H probably benign Het
Il5 G A 11: 53,611,805 (GRCm39) probably null Het
Kcnh7 T C 2: 62,569,704 (GRCm39) I731V possibly damaging Het
Lamb2 A T 9: 108,362,817 (GRCm39) K759* probably null Het
Lnpep A G 17: 17,786,943 (GRCm39) probably null Het
Lrch1 T C 14: 75,184,940 (GRCm39) E54G probably damaging Het
Msl3l2 A G 10: 55,991,461 (GRCm39) D62G possibly damaging Het
Mslnl T C 17: 25,963,531 (GRCm39) L339P probably damaging Het
Nfe2l2 T C 2: 75,509,761 (GRCm39) I20V probably damaging Het
Pgm5 A C 19: 24,801,772 (GRCm39) I152S probably damaging Het
Plcg2 C A 8: 118,312,010 (GRCm39) T434K probably benign Het
Prrc2c T C 1: 162,537,956 (GRCm39) E558G unknown Het
Rgsl1 A G 1: 153,687,984 (GRCm39) V635A probably benign Het
Rpap2 T C 5: 107,746,164 (GRCm39) V14A probably benign Het
Rxrg G T 1: 167,460,191 (GRCm39) A341S possibly damaging Het
Sbf2 A G 7: 109,948,182 (GRCm39) S1177P probably damaging Het
Sema6a T C 18: 47,414,266 (GRCm39) T498A probably benign Het
Slc13a4 G A 6: 35,278,718 (GRCm39) A57V probably damaging Het
Slc6a3 A T 13: 73,692,902 (GRCm39) D174V probably benign Het
Spart T G 3: 55,024,669 (GRCm39) V88G probably damaging Het
Tanc1 A T 2: 59,663,566 (GRCm39) R1108* probably null Het
Tas2r140 C T 6: 133,032,698 (GRCm39) G20E probably damaging Het
Tdrd6 A G 17: 43,940,373 (GRCm39) V225A probably benign Het
Tmem168 C A 6: 13,591,368 (GRCm39) A99S probably benign Het
Tnk2 T A 16: 32,488,917 (GRCm39) D252E probably damaging Het
Tpsg1 A T 17: 25,591,460 (GRCm39) H20L probably benign Het
Tram1l1 T C 3: 124,115,092 (GRCm39) F84S probably damaging Het
Vmn2r12 T A 5: 109,240,763 (GRCm39) I117L probably benign Het
Zfp148 T C 16: 33,315,829 (GRCm39) L219S possibly damaging Het
Zfp40 C A 17: 23,395,311 (GRCm39) E425D probably benign Het
Zfp773 T C 7: 7,135,481 (GRCm39) T372A probably benign Het
Other mutations in Ranbp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Ranbp3 APN 17 57,016,238 (GRCm39) missense probably damaging 1.00
IGL02801:Ranbp3 APN 17 57,017,766 (GRCm39) missense probably benign
IGL03004:Ranbp3 APN 17 57,014,207 (GRCm39) missense probably damaging 1.00
Waif UTSW 17 56,984,208 (GRCm39) splice site probably null
R0094:Ranbp3 UTSW 17 57,016,338 (GRCm39) unclassified probably benign
R0139:Ranbp3 UTSW 17 57,016,272 (GRCm39) missense possibly damaging 0.95
R0419:Ranbp3 UTSW 17 57,015,219 (GRCm39) missense possibly damaging 0.92
R0426:Ranbp3 UTSW 17 57,014,169 (GRCm39) missense probably benign
R0629:Ranbp3 UTSW 17 57,015,200 (GRCm39) missense possibly damaging 0.95
R0632:Ranbp3 UTSW 17 57,009,896 (GRCm39) splice site probably benign
R1495:Ranbp3 UTSW 17 57,012,527 (GRCm39) missense probably benign 0.03
R1525:Ranbp3 UTSW 17 57,017,865 (GRCm39) missense possibly damaging 0.52
R2044:Ranbp3 UTSW 17 56,980,367 (GRCm39) start gained probably benign
R2093:Ranbp3 UTSW 17 57,017,145 (GRCm39) missense probably damaging 1.00
R4649:Ranbp3 UTSW 17 57,003,640 (GRCm39) critical splice donor site probably null
R4780:Ranbp3 UTSW 17 56,980,346 (GRCm39) start gained probably benign
R5568:Ranbp3 UTSW 17 57,008,543 (GRCm39) critical splice donor site probably null
R5642:Ranbp3 UTSW 17 57,017,703 (GRCm39) missense probably benign 0.01
R5806:Ranbp3 UTSW 17 57,017,717 (GRCm39) missense probably benign 0.01
R5875:Ranbp3 UTSW 17 57,014,955 (GRCm39) critical splice donor site probably null
R6250:Ranbp3 UTSW 17 56,984,208 (GRCm39) splice site probably null
R6745:Ranbp3 UTSW 17 57,016,308 (GRCm39) missense probably benign 0.24
R7222:Ranbp3 UTSW 17 57,017,211 (GRCm39) missense probably damaging 1.00
R7571:Ranbp3 UTSW 17 57,014,923 (GRCm39) missense probably benign 0.01
R7718:Ranbp3 UTSW 17 57,003,718 (GRCm39) missense probably damaging 0.99
R7744:Ranbp3 UTSW 17 57,015,219 (GRCm39) missense possibly damaging 0.92
R8504:Ranbp3 UTSW 17 57,015,273 (GRCm39) missense probably damaging 0.98
R8746:Ranbp3 UTSW 17 57,009,826 (GRCm39) missense probably benign
R9133:Ranbp3 UTSW 17 57,003,791 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- CCTGATGTATCCTCTGAGCAGC -3'
(R):5'- GAGACCATGTCAAGGGCTGATG -3'

Sequencing Primer
(F):5'- ATCCTCTGAGCAGCTTGGTG -3'
(R):5'- CCATGTCAAGGGCTGATGTTCTG -3'
Posted On 2017-10-10