Incidental Mutation 'R5422:Ranbp9'
ID 426660
Institutional Source Beutler Lab
Gene Symbol Ranbp9
Ensembl Gene ENSMUSG00000038546
Gene Name RAN binding protein 9
Synonyms RanBPM, IBAP-1
MMRRC Submission 042846-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R5422 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 43556151-43634758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43573102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 474 (M474K)
Ref Sequence ENSEMBL: ENSMUSP00000130636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222239] [ENSMUST00000222651]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000144326
AA Change: M474K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: M474K

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 probably benign
Transcript: ENSMUST00000220500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220774
Predicted Effect probably benign
Transcript: ENSMUST00000222239
Predicted Effect probably benign
Transcript: ENSMUST00000222651
AA Change: M310K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 114,425,606 (GRCm39) S1219G probably benign Het
Adgrg5 T A 8: 95,660,580 (GRCm39) I73N probably damaging Het
Agmat C A 4: 141,483,144 (GRCm39) H193N probably damaging Het
Ambn T C 5: 88,612,370 (GRCm39) probably null Het
Atp8b5 T A 4: 43,366,644 (GRCm39) C803S probably benign Het
Btaf1 A T 19: 36,928,507 (GRCm39) R109S probably benign Het
Btnl6 C T 17: 34,733,081 (GRCm39) G261R possibly damaging Het
Clk3 A G 9: 57,672,721 (GRCm39) V27A probably benign Het
Clu A G 14: 66,213,051 (GRCm39) S146G probably damaging Het
Cyp2w1 T C 5: 139,338,528 (GRCm39) F43L probably benign Het
Elf3 C T 1: 135,182,778 (GRCm39) E316K probably damaging Het
Epha5 A T 5: 84,479,349 (GRCm39) D218E probably damaging Het
Ereg T C 5: 91,222,666 (GRCm39) probably null Het
Ewsr1 A G 11: 5,030,668 (GRCm39) probably benign Het
Fat4 A G 3: 38,941,394 (GRCm39) I96V possibly damaging Het
Fgl2 T G 5: 21,580,808 (GRCm39) N383K probably damaging Het
Fkbp11 A T 15: 98,625,989 (GRCm39) probably null Het
Fn3k C A 11: 121,340,948 (GRCm39) P201Q probably damaging Het
Fsip2 A G 2: 82,812,572 (GRCm39) I2964V probably benign Het
Gbx1 C T 5: 24,709,667 (GRCm39) V393I possibly damaging Het
Gch1 C T 14: 47,394,906 (GRCm39) A187T probably damaging Het
Ghdc C A 11: 100,660,020 (GRCm39) K242N probably benign Het
Ghrhr A G 6: 55,365,188 (GRCm39) H394R probably benign Het
Gje1 G A 10: 14,592,428 (GRCm39) S118L probably damaging Het
Hnrnpa2b1 A T 6: 51,442,208 (GRCm39) S236R probably benign Het
Kcnj5 A G 9: 32,229,001 (GRCm39) Y66H probably benign Het
Kif15 T A 9: 122,813,954 (GRCm39) probably null Het
Magi3 C T 3: 103,958,684 (GRCm39) C467Y probably damaging Het
Map7 G T 10: 20,142,512 (GRCm39) V303F probably damaging Het
Mapk11 A G 15: 89,030,488 (GRCm39) L135P probably damaging Het
Mapkapk5 T A 5: 121,669,785 (GRCm39) probably null Het
Myh7b A C 2: 155,472,954 (GRCm39) Q1405P probably damaging Het
Nalcn A T 14: 123,752,777 (GRCm39) I328N probably damaging Het
Nprl2 C A 9: 107,420,796 (GRCm39) R144S probably benign Het
Ogfr G T 2: 180,237,067 (GRCm39) D551Y possibly damaging Het
Ogfr A T 2: 180,237,068 (GRCm39) D551V probably benign Het
Or6b13 A T 7: 139,782,305 (GRCm39) V126E probably damaging Het
Or8c10 A T 9: 38,279,270 (GRCm39) T143S probably benign Het
Parp14 T C 16: 35,686,545 (GRCm39) K101E probably benign Het
Pcdhb16 A T 18: 37,612,920 (GRCm39) T627S probably damaging Het
Pdzrn4 G A 15: 92,575,502 (GRCm39) G303S probably benign Het
Plcl1 A T 1: 55,736,543 (GRCm39) Y628F probably benign Het
Ptpn9 T A 9: 56,940,441 (GRCm39) W194R probably damaging Het
Rasgef1a T A 6: 118,065,095 (GRCm39) F370Y probably damaging Het
Rassf5 C A 1: 131,108,911 (GRCm39) R218L possibly damaging Het
Scart1 A T 7: 139,804,068 (GRCm39) H422L probably benign Het
Serpine2 C A 1: 79,794,592 (GRCm39) V114L probably benign Het
Serpine2 T C 1: 79,799,206 (GRCm39) Y16C probably benign Het
Sgms1 G T 19: 32,137,232 (GRCm39) N111K probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Tbc1d17 A T 7: 44,498,292 (GRCm39) M1K probably null Het
Tcf12 A T 9: 71,776,320 (GRCm39) H403Q probably damaging Het
Thoc2l T C 5: 104,667,512 (GRCm39) I678T probably damaging Het
Thsd7b T C 1: 129,849,071 (GRCm39) S928P probably benign Het
Tjp1 A T 7: 64,952,715 (GRCm39) F1540I probably damaging Het
Tph2 T A 10: 114,915,669 (GRCm39) D457V possibly damaging Het
Usp9y T C Y: 1,314,676 (GRCm39) I2112V probably benign Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Zfp335 T C 2: 164,749,650 (GRCm39) K249R probably damaging Het
Zfp54 C A 17: 21,654,788 (GRCm39) S427R probably benign Het
Zfp607b A G 7: 27,401,813 (GRCm39) T90A 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
R0771:Ranbp9 UTSW 13 43,615,249 (GRCm39) missense possibly damaging 0.92
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
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'- CCATGTTCTGTCATATGAAACAGG -3'
(R):5'- TGCGTGCCAAATCTTGCTTAC -3'

Sequencing Primer
(F):5'- GGACACTGTACACATACAACTGG -3'
(R):5'- GCGTGCCAAATCTTGCTTACTTAAC -3'
Posted On 2016-09-01