Incidental Mutation 'R3607:Ranbp10'
ID 269117
Institutional Source Beutler Lab
Gene Symbol Ranbp10
Ensembl Gene ENSMUSG00000037415
Gene Name RAN binding protein 10
Synonyms 4432417N03Rik
MMRRC Submission 040671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3607 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106494940-106553982 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106502667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 300 (S300P)
Ref Sequence ENSEMBL: ENSMUSP00000040045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041400]
AlphaFold Q6VN19
Predicted Effect probably benign
Transcript: ENSMUST00000041400
AA Change: S300P

PolyPhen 2 Score 0.395 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040045
Gene: ENSMUSG00000037415
AA Change: S300P

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
SPRY 128 249 5.47e-44 SMART
LisH 281 313 1.63e-2 SMART
CTLH 319 376 4.19e-14 SMART
low complexity region 437 464 N/A INTRINSIC
CRA 534 636 2.04e-22 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.3%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAN is a small GTPase involved in the assembly of microtubules to form mitotic spindles. The protein encoded by this gene is a cytoplasmic guanine nucleotide exchange factor (GEF) that binds beta-tubulin and has GEF activity toward RAN. The encoded protein plays a role in the formation of noncentrosomal microtubules. In addition, this protein may be involved in the regulation of D(1) receptor signaling by protein kinase C delta and protein kinase C gamma. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit slight defects in erythrocyte number and volume, decreased platelet aggregattion and increased bleeding time associated with impaired platelet dense granule release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930510E17Rik C A 9: 53,191,083 (GRCm39) noncoding transcript Het
Adnp2 A T 18: 80,172,284 (GRCm39) N708K probably damaging Het
Arhgef17 C A 7: 100,580,379 (GRCm39) G190W probably damaging Het
Aspm T A 1: 139,408,406 (GRCm39) M2431K probably benign Het
Aurkc A G 7: 7,005,859 (GRCm39) Y157C probably damaging Het
Bpifb1 T A 2: 154,053,485 (GRCm39) N242K possibly damaging Het
Cracr2b C T 7: 141,046,059 (GRCm39) P370S possibly damaging Het
Etv1 A G 12: 38,881,085 (GRCm39) Y66C probably damaging Het
F830016B08Rik A T 18: 60,433,780 (GRCm39) K288* probably null Het
Fam131a C T 16: 20,520,345 (GRCm39) P181L probably damaging Het
Fat2 T A 11: 55,172,511 (GRCm39) E2734V probably damaging Het
Fgfrl1 C A 5: 108,853,289 (GRCm39) T213K probably damaging Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably benign Het
Gmfg T A 7: 28,140,961 (GRCm39) probably null Het
Gtpbp8 T C 16: 44,564,119 (GRCm39) Y184C probably damaging Het
Heatr5b T C 17: 79,141,646 (GRCm39) E2G probably damaging Het
Itpr2 T G 6: 146,129,099 (GRCm39) T2005P probably damaging Het
Kmt2a G A 9: 44,760,493 (GRCm39) T485M probably damaging Het
Kng1 T C 16: 22,886,552 (GRCm39) F112L probably damaging Het
Kprp C A 3: 92,731,588 (GRCm39) Q487H unknown Het
Lctl T C 9: 64,040,475 (GRCm39) Y473H probably damaging Het
Lpin2 T A 17: 71,536,387 (GRCm39) D225E probably damaging Het
Myom2 T C 8: 15,119,775 (GRCm39) V177A probably damaging Het
Nkrf T G X: 36,153,730 (GRCm39) N184T probably benign Het
Nt5c1b A G 12: 10,427,236 (GRCm39) N329D probably damaging Het
Ogdhl T A 14: 32,057,318 (GRCm39) V308E probably damaging Het
Or14a258 A G 7: 86,034,903 (GRCm39) C322R probably benign Het
Pcnx1 T A 12: 81,975,066 (GRCm39) F791I probably damaging Het
Prkg2 G T 5: 99,095,236 (GRCm39) T616K probably damaging Het
Psmd3 C T 11: 98,581,780 (GRCm39) R302W probably damaging Het
Ptpn1 A G 2: 167,817,427 (GRCm39) S355G probably benign Het
Pxdn A G 12: 30,040,917 (GRCm39) N398D probably benign Het
Rbl1 A T 2: 157,019,153 (GRCm39) F531I probably damaging Het
Rgl3 A G 9: 21,898,987 (GRCm39) S151P probably damaging Het
Rnf213 C A 11: 119,332,802 (GRCm39) C2670* probably null Het
Tex16 T A X: 111,003,667 (GRCm39) S159T probably damaging Het
Tnfaip3 A G 10: 18,881,350 (GRCm39) I312T probably damaging Het
Traf2 T C 2: 25,420,427 (GRCm39) T141A probably benign Het
Trpm7 T C 2: 126,638,348 (GRCm39) probably benign Het
Usp11 T G X: 20,580,871 (GRCm39) F426L probably damaging Het
Vcan G T 13: 89,851,420 (GRCm39) T1180K probably damaging Het
Wasf1 G C 10: 40,812,380 (GRCm39) A390P unknown Het
Yif1b C T 7: 28,937,835 (GRCm39) A7V possibly damaging Het
Other mutations in Ranbp10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Ranbp10 APN 8 106,506,622 (GRCm39) missense probably damaging 1.00
IGL02119:Ranbp10 APN 8 106,553,635 (GRCm39) missense probably damaging 1.00
IGL02120:Ranbp10 APN 8 106,532,214 (GRCm39) missense probably damaging 1.00
R1532:Ranbp10 UTSW 8 106,500,963 (GRCm39) missense probably benign 0.01
R1743:Ranbp10 UTSW 8 106,506,610 (GRCm39) missense probably damaging 1.00
R1970:Ranbp10 UTSW 8 106,513,340 (GRCm39) missense probably damaging 1.00
R3084:Ranbp10 UTSW 8 106,501,263 (GRCm39) missense probably damaging 1.00
R3605:Ranbp10 UTSW 8 106,502,667 (GRCm39) missense probably benign 0.40
R3606:Ranbp10 UTSW 8 106,502,667 (GRCm39) missense probably benign 0.40
R4815:Ranbp10 UTSW 8 106,552,757 (GRCm39) nonsense probably null
R5996:Ranbp10 UTSW 8 106,499,672 (GRCm39) missense probably benign 0.04
R6178:Ranbp10 UTSW 8 106,498,296 (GRCm39) missense possibly damaging 0.82
R6528:Ranbp10 UTSW 8 106,506,588 (GRCm39) missense probably damaging 1.00
R6718:Ranbp10 UTSW 8 106,501,260 (GRCm39) missense possibly damaging 0.62
R7082:Ranbp10 UTSW 8 106,500,578 (GRCm39) missense probably damaging 0.99
R7732:Ranbp10 UTSW 8 106,499,723 (GRCm39) missense probably benign 0.01
R8073:Ranbp10 UTSW 8 106,513,261 (GRCm39) missense probably damaging 1.00
R8103:Ranbp10 UTSW 8 106,499,179 (GRCm39) missense probably benign 0.20
R8796:Ranbp10 UTSW 8 106,499,665 (GRCm39) splice site probably benign
R9152:Ranbp10 UTSW 8 106,499,140 (GRCm39) missense probably benign 0.12
R9789:Ranbp10 UTSW 8 106,513,306 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTTGGTCTCCAGGATAGTACAG -3'
(R):5'- TAGCCACTCCTATGACCTGG -3'

Sequencing Primer
(F):5'- TCTCCAGGATAGTACAGATATGGTG -3'
(R):5'- GAGGGAAGTTCTTATTTTCTTTACCC -3'
Posted On 2015-02-19