Incidental Mutation 'R3715:Rangap1'
ID 476166
Institutional Source Beutler Lab
Gene Symbol Rangap1
Ensembl Gene ENSMUSG00000022391
Gene Name RAN GTPase activating protein 1
Synonyms Fug1
MMRRC Submission 040708-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3715 (G1)
Quality Score 206
Status Not validated
Chromosome 15
Chromosomal Location 81588449-81614120 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 81594661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 389 (E389D)
Ref Sequence ENSEMBL: ENSMUSP00000130046 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052374] [ENSMUST00000170134] [ENSMUST00000171115] [ENSMUST00000230302]
AlphaFold P46061
Predicted Effect probably benign
Transcript: ENSMUST00000052374
AA Change: E389D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000057771
Gene: ENSMUSG00000022391
AA Change: E389D

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 407 587 5.9e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170134
AA Change: E389D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000126849
Gene: ENSMUSG00000022391
AA Change: E389D

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 406 588 7.4e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171115
AA Change: E389D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000130046
Gene: ENSMUSG00000022391
AA Change: E389D

DomainStartEndE-ValueType
LRR 48 75 3.34e-2 SMART
LRR 111 138 4.79e-3 SMART
LRR 141 168 8.34e-3 SMART
Blast:LRR 179 206 6e-8 BLAST
LRR 207 234 9.24e1 SMART
LRR 235 262 1.13e-4 SMART
LRR 263 290 8.37e1 SMART
LRR 292 319 4.74e0 SMART
LRR 320 347 3.21e-4 SMART
low complexity region 359 399 N/A INTRINSIC
Pfam:RanGAP1_C 406 588 7.4e-92 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229705
Predicted Effect probably benign
Transcript: ENSMUST00000230302
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that associates with the nuclear pore complex and participates in the regulation of nuclear transport. The encoded protein interacts with Ras-related nuclear protein 1 (RAN) and regulates guanosine triphosphate (GTP)-binding and exchange. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous mutation of this gene results in embryo arrest at the egg cylinder stage and lethality by E8.5. The appearance of the proamniotic cavity is delayed and epiblast cells surrounding the cavity are disorganized. Mesoderm and placental development is impaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,424,081 (GRCm39) M137V probably benign Het
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Aaas T C 15: 102,248,771 (GRCm39) I236V probably benign Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adamtsl1 T A 4: 86,135,213 (GRCm39) I246N probably benign Het
Ak9 A G 10: 41,233,508 (GRCm39) D582G probably damaging Het
Aqr A G 2: 113,949,150 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,187 (GRCm39) K360E probably damaging Het
Cacna2d3 T C 14: 29,068,880 (GRCm39) I282M probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Dexi A T 16: 10,360,553 (GRCm39) M1K probably null Het
Dlat A G 9: 50,549,354 (GRCm39) V510A probably damaging Het
Eaf1 T C 14: 31,224,402 (GRCm39) I173T possibly damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Epm2a A G 10: 11,219,420 (GRCm39) Y69C probably benign Het
Fam168a A G 7: 100,473,432 (GRCm39) N107S probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Fscn3 C T 6: 28,428,091 (GRCm39) T26I possibly damaging Het
Glt8d2 C A 10: 82,488,571 (GRCm39) A300S probably benign Het
Hcn4 G A 9: 58,751,319 (GRCm39) R315H unknown Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Lyg1 G T 1: 37,989,759 (GRCm39) R43S probably damaging Het
Marchf6 A G 15: 31,465,405 (GRCm39) L833P probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Med17 G A 9: 15,175,062 (GRCm39) probably benign Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndst4 A T 3: 125,355,154 (GRCm39) H354L possibly damaging Het
Or2t26 T C 11: 49,039,642 (GRCm39) L186P probably damaging Het
Or4c15 A G 2: 88,759,757 (GRCm39) W301R probably benign Het
Or4p22 C A 2: 88,317,787 (GRCm39) T237N probably damaging Het
Otof T A 5: 30,534,215 (GRCm39) K1397* probably null Het
Rbfox2 A G 15: 76,983,451 (GRCm39) I270T probably damaging Het
Rnf217 G T 10: 31,410,728 (GRCm39) C322* probably null Het
Sbk1 A G 7: 125,889,183 (GRCm39) T50A probably benign Het
Shmt1 T C 11: 60,688,402 (GRCm39) T248A probably damaging Het
Smim29 G A 17: 27,785,043 (GRCm39) probably benign Het
Sox30 C T 11: 45,875,619 (GRCm39) T457I probably damaging Het
Stox2 T A 8: 47,866,187 (GRCm39) I52F possibly damaging Het
Syncrip A T 9: 88,361,738 (GRCm39) probably benign Het
Tars3 G A 7: 65,338,700 (GRCm39) probably null Het
Tdrd12 T C 7: 35,204,405 (GRCm39) E235G probably benign Het
Tmem82 A T 4: 141,344,945 (GRCm39) probably null Het
Tro T C X: 149,437,230 (GRCm39) T476A probably damaging Het
Ttn G A 2: 76,561,363 (GRCm39) P27302S probably damaging Het
Ttn C T 2: 76,571,610 (GRCm39) V26428I probably damaging Het
Usp53 T C 3: 122,742,968 (GRCm39) E656G probably benign Het
Vmn2r100 A G 17: 19,752,272 (GRCm39) R772G probably damaging Het
Xkr5 T C 8: 18,984,474 (GRCm39) E190G probably benign Het
Zfp236 A G 18: 82,651,095 (GRCm39) probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zp2 A T 7: 119,741,057 (GRCm39) S156T possibly damaging Het
Zswim5 A G 4: 116,819,755 (GRCm39) T387A probably benign Het
Other mutations in Rangap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Rangap1 APN 15 81,606,194 (GRCm39) missense probably benign 0.04
IGL01080:Rangap1 APN 15 81,589,953 (GRCm39) splice site probably benign
IGL01608:Rangap1 APN 15 81,593,705 (GRCm39) missense probably benign 0.00
IGL01939:Rangap1 APN 15 81,604,864 (GRCm39) missense probably damaging 0.97
IGL03163:Rangap1 APN 15 81,600,801 (GRCm39) missense probably damaging 1.00
R0413:Rangap1 UTSW 15 81,600,876 (GRCm39) frame shift probably null
R0423:Rangap1 UTSW 15 81,589,664 (GRCm39) missense probably damaging 1.00
R0843:Rangap1 UTSW 15 81,594,703 (GRCm39) missense probably benign
R1960:Rangap1 UTSW 15 81,590,704 (GRCm39) missense probably benign 0.00
R3687:Rangap1 UTSW 15 81,602,963 (GRCm39) missense possibly damaging 0.76
R3688:Rangap1 UTSW 15 81,602,963 (GRCm39) missense possibly damaging 0.76
R3713:Rangap1 UTSW 15 81,594,661 (GRCm39) missense probably benign 0.00
R4727:Rangap1 UTSW 15 81,613,956 (GRCm39) intron probably benign
R4755:Rangap1 UTSW 15 81,597,118 (GRCm39) missense probably benign 0.00
R5051:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5088:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5089:Rangap1 UTSW 15 81,594,664 (GRCm39) missense probably benign 0.00
R5374:Rangap1 UTSW 15 81,590,695 (GRCm39) missense probably benign 0.01
R5391:Rangap1 UTSW 15 81,590,647 (GRCm39) missense probably benign 0.01
R5395:Rangap1 UTSW 15 81,590,647 (GRCm39) missense probably benign 0.01
R6439:Rangap1 UTSW 15 81,596,336 (GRCm39) missense probably benign
R8083:Rangap1 UTSW 15 81,603,101 (GRCm39) missense probably benign 0.02
R8161:Rangap1 UTSW 15 81,594,696 (GRCm39) missense probably benign 0.19
R8864:Rangap1 UTSW 15 81,610,270 (GRCm39) intron probably benign
R9320:Rangap1 UTSW 15 81,606,221 (GRCm39) missense probably benign 0.00
R9673:Rangap1 UTSW 15 81,590,637 (GRCm39) missense probably benign 0.31
Predicted Primers
Posted On 2017-05-11