Incidental Mutation 'R0771:Ranbp9'
ID 76964
Institutional Source Beutler Lab
Gene Symbol Ranbp9
Ensembl Gene ENSMUSG00000038546
Gene Name RAN binding protein 9
Synonyms RanBPM, IBAP-1
MMRRC Submission 038951-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R0771 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 43556151-43634758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43615249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 190 (I190V)
Ref Sequence ENSEMBL: ENSMUSP00000130636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222023] [ENSMUST00000222239] [ENSMUST00000222651]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000144326
AA Change: I190V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: I190V

DomainStartEndE-ValueType
low complexity region 2 114 N/A INTRINSIC
SPRY 194 315 1.66e-43 SMART
LisH 347 379 6.82e-5 SMART
CTLH 385 442 9.78e-15 SMART
low complexity region 455 478 N/A INTRINSIC
CRA 596 698 1.6e-24 SMART
Predicted Effect unknown
Transcript: ENSMUST00000220500
AA Change: I104V
Predicted Effect probably benign
Transcript: ENSMUST00000222023
Predicted Effect probably benign
Transcript: ENSMUST00000222239
Predicted Effect possibly damaging
Transcript: ENSMUST00000222651
AA Change: I26V

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abr T C 11: 76,346,509 (GRCm39) E434G probably damaging Het
Adam19 G A 11: 46,012,280 (GRCm39) V259I possibly damaging Het
Adam5 A G 8: 25,276,315 (GRCm39) S451P probably benign Het
Chd6 G A 2: 160,861,500 (GRCm39) L516F probably damaging Het
Elovl4 A G 9: 83,667,168 (GRCm39) V154A possibly damaging Het
Gadl1 G A 9: 115,773,300 (GRCm39) R114Q probably damaging Het
Ipo13 T C 4: 117,751,843 (GRCm39) N936S possibly damaging Het
Kcnd2 T A 6: 21,216,441 (GRCm39) S48R probably damaging Het
Lgalsl2 A G 7: 5,362,822 (GRCm39) D151G probably damaging Het
Lim2 C A 7: 43,080,127 (GRCm39) A38E possibly damaging Het
Lrp2 A T 2: 69,338,334 (GRCm39) D1177E probably damaging Het
Mdh1 C T 11: 21,507,550 (GRCm39) V300I probably benign Het
Mfsd4b4 T C 10: 39,768,407 (GRCm39) T275A probably benign Het
Myo10 A G 15: 25,778,264 (GRCm39) Y114C probably damaging Het
Ncapg2 T A 12: 116,376,779 (GRCm39) C122* probably null Het
Nod1 T G 6: 54,921,254 (GRCm39) S355R probably damaging Het
Or52x1 T A 7: 104,853,368 (GRCm39) M61L possibly damaging Het
Or5ap2 A T 2: 85,680,338 (GRCm39) I181F possibly damaging Het
Pcsk1 A T 13: 75,280,281 (GRCm39) E702V probably benign Het
Ptpn21 T C 12: 98,655,339 (GRCm39) T543A probably damaging Het
Sirpd T A 3: 15,385,506 (GRCm39) Q132L probably benign Het
Slc1a4 C T 11: 20,256,467 (GRCm39) V455M probably damaging Het
Srbd1 T A 17: 86,437,682 (GRCm39) E220D probably benign Het
Thsd7a A G 6: 12,327,576 (GRCm39) V1432A probably benign Het
Zfp61 T C 7: 23,992,779 (GRCm39) R71G probably benign Het
Other mutations in Ranbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Ranbp9 APN 13 43,633,980 (GRCm39) missense probably damaging 1.00
IGL01478:Ranbp9 APN 13 43,567,560 (GRCm39) missense probably benign 0.31
IGL01948:Ranbp9 APN 13 43,576,029 (GRCm39) missense probably damaging 1.00
IGL02177:Ranbp9 APN 13 43,573,193 (GRCm39) missense probably damaging 0.99
IGL02382:Ranbp9 APN 13 43,589,622 (GRCm39) splice site probably null
R0183:Ranbp9 UTSW 13 43,578,599 (GRCm39) missense probably damaging 1.00
R0401:Ranbp9 UTSW 13 43,576,134 (GRCm39) missense probably damaging 1.00
R1551:Ranbp9 UTSW 13 43,578,593 (GRCm39) missense probably benign 0.15
R1644:Ranbp9 UTSW 13 43,566,015 (GRCm39) missense probably damaging 1.00
R1892:Ranbp9 UTSW 13 43,569,933 (GRCm39) missense possibly damaging 0.87
R2247:Ranbp9 UTSW 13 43,565,901 (GRCm39) missense probably damaging 1.00
R4097:Ranbp9 UTSW 13 43,574,733 (GRCm39) missense probably damaging 0.97
R4794:Ranbp9 UTSW 13 43,567,552 (GRCm39) missense probably damaging 0.99
R4908:Ranbp9 UTSW 13 43,574,733 (GRCm39) missense possibly damaging 0.81
R4996:Ranbp9 UTSW 13 43,578,570 (GRCm39) nonsense probably null
R5024:Ranbp9 UTSW 13 43,588,331 (GRCm39) missense probably damaging 0.99
R5422:Ranbp9 UTSW 13 43,573,102 (GRCm39) missense probably benign 0.01
R7069:Ranbp9 UTSW 13 43,573,098 (GRCm39) missense probably benign 0.24
R7115:Ranbp9 UTSW 13 43,560,147 (GRCm39) missense probably benign 0.04
R7298:Ranbp9 UTSW 13 43,633,936 (GRCm39) missense probably benign 0.10
R7382:Ranbp9 UTSW 13 43,578,590 (GRCm39) missense probably damaging 0.99
R7826:Ranbp9 UTSW 13 43,573,097 (GRCm39) missense possibly damaging 0.46
R8856:Ranbp9 UTSW 13 43,567,506 (GRCm39) missense probably damaging 1.00
R8914:Ranbp9 UTSW 13 43,578,560 (GRCm39) missense probably benign 0.33
R9433:Ranbp9 UTSW 13 43,576,041 (GRCm39) missense probably damaging 1.00
R9657:Ranbp9 UTSW 13 43,557,155 (GRCm39) missense unknown
R9664:Ranbp9 UTSW 13 43,578,519 (GRCm39) missense probably benign 0.00
X0024:Ranbp9 UTSW 13 43,578,561 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- ACTCGCAGTTTTAATAATGACCCTGCC -3'
(R):5'- GCCGCTACCAGAATCAGTATGTTCAG -3'

Sequencing Primer
(F):5'- TGACCCTGCCAGAAAGACTG -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2013-10-16