Incidental Mutation 'R1831:Ranbp2'
ID 207341
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission 039858-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1831 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 58282674-58329977 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 58315044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 1921 (C1921*)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000003310
AA Change: C1921*
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: C1921*

DomainStartEndE-ValueType
Pfam:TPR_1 60 93 1.8e-7 PFAM
Pfam:TPR_8 60 93 8.9e-6 PFAM
low complexity region 235 247 N/A INTRINSIC
low complexity region 778 801 N/A INTRINSIC
coiled coil region 808 832 N/A INTRINSIC
RanBD 1166 1295 6.47e-64 SMART
ZnF_RBZ 1348 1372 5.49e-2 SMART
ZnF_RBZ 1412 1436 3.06e-6 SMART
ZnF_RBZ 1471 1495 4.16e-8 SMART
ZnF_RBZ 1500 1524 4.57e-5 SMART
ZnF_RBZ 1560 1584 3.52e-6 SMART
ZnF_RBZ 1619 1643 1.35e-7 SMART
RanBD 1850 1979 2.84e-60 SMART
low complexity region 2034 2048 N/A INTRINSIC
low complexity region 2069 2090 N/A INTRINSIC
low complexity region 2106 2121 N/A INTRINSIC
RanBD 2147 2276 4.96e-83 SMART
low complexity region 2310 2317 N/A INTRINSIC
low complexity region 2328 2342 N/A INTRINSIC
Pfam:IR1-M 2468 2530 2.5e-27 PFAM
Pfam:IR1-M 2544 2604 7e-30 PFAM
low complexity region 2673 2684 N/A INTRINSIC
low complexity region 2722 2732 N/A INTRINSIC
RanBD 2741 2869 5e-79 SMART
Pfam:Pro_isomerase 2896 3052 4.5e-45 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality. Heterozygous mice on some backgrounds display reduced ATP levels in the CNS, decreased glucose clearance, decreased weight gain on a high fat diet, and reduced scotopic responses. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,627,255 (GRCm39) D77G probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Capn8 G A 1: 182,438,666 (GRCm39) probably null Het
Carmil1 A T 13: 24,348,862 (GRCm39) V15E probably benign Het
Ccdc42 T A 11: 68,481,805 (GRCm39) M133K probably benign Het
Cd5 T C 19: 10,696,933 (GRCm39) D485G probably damaging Het
Cdhr18 A G 14: 13,899,619 (GRCm38) I101T probably damaging Het
Cep104 T A 4: 154,087,003 (GRCm39) V842E probably benign Het
Cep162 T A 9: 87,088,985 (GRCm39) I966L probably damaging Het
Cklf T C 8: 104,977,687 (GRCm39) F13S probably damaging Het
Csf2rb C T 15: 78,232,453 (GRCm39) P587S probably benign Het
Cyp21a1 A T 17: 35,023,009 (GRCm39) probably benign Het
Cyp26a1 A T 19: 37,689,071 (GRCm39) L335F probably damaging Het
Dcst1 A G 3: 89,260,057 (GRCm39) F596L probably damaging Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dnah6 G A 6: 73,158,780 (GRCm39) R608C possibly damaging Het
Dnajb5 A T 4: 42,957,333 (GRCm39) T311S probably benign Het
Dthd1 A G 5: 62,984,572 (GRCm39) T426A probably benign Het
Dync1h1 A G 12: 110,580,493 (GRCm39) K118R probably damaging Het
Efemp1 A T 11: 28,871,442 (GRCm39) D347V possibly damaging Het
Ephb4 T A 5: 137,352,677 (GRCm39) Y87N probably damaging Het
Ern1 A T 11: 106,290,668 (GRCm39) probably null Het
Fam184a A T 10: 53,523,180 (GRCm39) D164E probably damaging Het
Fkbp10 A G 11: 100,314,045 (GRCm39) E351G probably damaging Het
Fmn2 A G 1: 174,437,511 (GRCm39) S1161G probably benign Het
Frem1 A G 4: 82,939,074 (GRCm39) S3P possibly damaging Het
Gpr3 C T 4: 132,938,454 (GRCm39) A73T possibly damaging Het
Gprc6a T C 10: 51,491,902 (GRCm39) T616A probably benign Het
Gtf3c2 G T 5: 31,325,713 (GRCm39) Q452K probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hacd2 T C 16: 34,922,434 (GRCm39) Y208H probably damaging Het
Hid1 C T 11: 115,239,729 (GRCm39) G734R probably damaging Het
Ifi207 A G 1: 173,559,992 (GRCm39) I160T unknown Het
Itga11 T A 9: 62,689,300 (GRCm39) L1155Q probably damaging Het
Kmt2d A G 15: 98,753,224 (GRCm39) S157P probably damaging Het
Lamb3 A G 1: 193,017,187 (GRCm39) T793A probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Lrrc66 G A 5: 73,764,769 (GRCm39) S758L possibly damaging Het
Ltn1 C T 16: 87,197,034 (GRCm39) S1213N possibly damaging Het
Meak7 T C 8: 120,497,992 (GRCm39) M171V probably null Het
Med1 T C 11: 98,047,437 (GRCm39) probably benign Het
Megf6 C T 4: 154,355,134 (GRCm39) T1483M probably benign Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Ndst3 T A 3: 123,395,127 (GRCm39) H501L probably benign Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nmbr C A 10: 14,642,609 (GRCm39) T56K probably benign Het
Nxpe2 T A 9: 48,237,452 (GRCm39) M268L probably benign Het
Oasl2 A G 5: 115,039,367 (GRCm39) Y185C probably benign Het
Ogdhl T A 14: 32,059,484 (GRCm39) V377E probably damaging Het
Or11g1 T A 14: 50,651,658 (GRCm39) probably null Het
Or14j4 G A 17: 37,920,730 (GRCm39) S304L possibly damaging Het
Ovgp1 A G 3: 105,892,384 (GRCm39) R346G probably benign Het
Parp14 T A 16: 35,678,958 (GRCm39) N337Y possibly damaging Het
Pask A C 1: 93,248,491 (GRCm39) probably null Het
Pax3 G T 1: 78,108,977 (GRCm39) T227K probably damaging Het
Pik3r6 T A 11: 68,434,860 (GRCm39) M594K probably benign Het
Pms1 A G 1: 53,246,370 (GRCm39) F390L probably benign Het
Polg G A 7: 79,109,518 (GRCm39) T433I probably benign Het
Prex1 T C 2: 166,427,021 (GRCm39) Y898C probably damaging Het
Rif1 T A 2: 51,968,507 (GRCm39) L230* probably null Het
Rnf148 A G 6: 23,654,772 (GRCm39) F75L probably damaging Het
Rps18-ps6 A G 13: 97,897,053 (GRCm39) V15A probably benign Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sirt1 T C 10: 63,156,425 (GRCm39) D735G probably benign Het
Spag5 T A 11: 78,205,082 (GRCm39) N622K probably benign Het
Sspo T G 6: 48,466,720 (GRCm39) C3935W probably damaging Het
Strbp A G 2: 37,515,277 (GRCm39) S250P possibly damaging Het
Tgfbr2 T C 9: 115,919,604 (GRCm39) T541A possibly damaging Het
Thada A C 17: 84,538,542 (GRCm39) S1489A probably damaging Het
Tiam1 A T 16: 89,657,182 (GRCm39) S685T probably benign Het
Tpsb2 T A 17: 25,585,494 (GRCm39) probably null Het
Trip4 C A 9: 65,765,622 (GRCm39) G359V probably damaging Het
Tsr1 T C 11: 74,791,182 (GRCm39) F254L probably benign Het
Vmn1r120 T C 7: 20,787,556 (GRCm39) K52E probably benign Het
Vmn1r29 C A 6: 58,284,692 (GRCm39) Y137* probably null Het
Vmn2r52 T C 7: 9,893,415 (GRCm39) K575E probably damaging Het
Wdr95 A G 5: 149,475,891 (GRCm39) Y63C probably damaging Het
Other mutations in Ranbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Ranbp2 APN 10 58,313,078 (GRCm39) missense probably damaging 1.00
IGL00336:Ranbp2 APN 10 58,287,806 (GRCm39) missense probably damaging 1.00
IGL00486:Ranbp2 APN 10 58,313,434 (GRCm39) missense probably benign 0.06
IGL00800:Ranbp2 APN 10 58,326,526 (GRCm39) missense probably benign
IGL00834:Ranbp2 APN 10 58,289,145 (GRCm39) missense possibly damaging 0.94
IGL00852:Ranbp2 APN 10 58,313,723 (GRCm39) missense probably benign
IGL00984:Ranbp2 APN 10 58,297,786 (GRCm39) nonsense probably null
IGL01299:Ranbp2 APN 10 58,328,639 (GRCm39) missense probably damaging 1.00
IGL01325:Ranbp2 APN 10 58,312,120 (GRCm39) missense probably damaging 0.99
IGL01444:Ranbp2 APN 10 58,311,122 (GRCm39) missense possibly damaging 0.79
IGL01545:Ranbp2 APN 10 58,314,703 (GRCm39) missense possibly damaging 0.48
IGL01619:Ranbp2 APN 10 58,299,900 (GRCm39) splice site probably null
IGL01782:Ranbp2 APN 10 58,314,131 (GRCm39) missense probably damaging 0.97
IGL02020:Ranbp2 APN 10 58,315,769 (GRCm39) missense probably damaging 1.00
IGL02096:Ranbp2 APN 10 58,297,789 (GRCm39) missense probably damaging 1.00
IGL02182:Ranbp2 APN 10 58,321,582 (GRCm39) nonsense probably null
IGL02211:Ranbp2 APN 10 58,314,064 (GRCm39) missense probably benign
IGL02249:Ranbp2 APN 10 58,315,900 (GRCm39) missense possibly damaging 0.89
IGL02268:Ranbp2 APN 10 58,329,475 (GRCm39) unclassified probably benign
IGL02421:Ranbp2 APN 10 58,316,376 (GRCm39) missense probably damaging 1.00
IGL03080:Ranbp2 APN 10 58,312,613 (GRCm39) missense probably benign 0.01
IGL03119:Ranbp2 APN 10 58,287,825 (GRCm39) missense probably damaging 1.00
IGL03206:Ranbp2 APN 10 58,301,369 (GRCm39) missense probably damaging 1.00
IGL03237:Ranbp2 APN 10 58,328,783 (GRCm39) missense probably damaging 0.98
En_passant UTSW 10 58,287,839 (GRCm39) missense probably damaging 1.00
red_river UTSW 10 58,301,489 (GRCm39) missense probably damaging 1.00
IGL02799:Ranbp2 UTSW 10 58,316,086 (GRCm39) missense probably damaging 1.00
R0058:Ranbp2 UTSW 10 58,316,353 (GRCm39) missense probably damaging 0.98
R0058:Ranbp2 UTSW 10 58,316,353 (GRCm39) missense probably damaging 0.98
R0145:Ranbp2 UTSW 10 58,315,868 (GRCm39) missense probably damaging 1.00
R0309:Ranbp2 UTSW 10 58,315,690 (GRCm39) missense probably benign 0.04
R0375:Ranbp2 UTSW 10 58,313,105 (GRCm39) missense probably damaging 1.00
R0441:Ranbp2 UTSW 10 58,321,590 (GRCm39) missense probably benign 0.40
R0494:Ranbp2 UTSW 10 58,303,254 (GRCm39) missense possibly damaging 0.53
R0542:Ranbp2 UTSW 10 58,314,236 (GRCm39) missense probably benign 0.02
R0565:Ranbp2 UTSW 10 58,312,158 (GRCm39) missense probably benign 0.41
R0608:Ranbp2 UTSW 10 58,329,720 (GRCm39) missense probably damaging 1.00
R0661:Ranbp2 UTSW 10 58,314,555 (GRCm39) missense probably benign
R0670:Ranbp2 UTSW 10 58,316,520 (GRCm39) missense probably benign 0.01
R0760:Ranbp2 UTSW 10 58,312,613 (GRCm39) missense possibly damaging 0.70
R0811:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.01
R0812:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.01
R1180:Ranbp2 UTSW 10 58,301,285 (GRCm39) missense probably damaging 1.00
R1196:Ranbp2 UTSW 10 58,312,875 (GRCm39) missense probably damaging 1.00
R1216:Ranbp2 UTSW 10 58,319,034 (GRCm39) splice site probably benign
R1374:Ranbp2 UTSW 10 58,321,715 (GRCm39) splice site probably benign
R1541:Ranbp2 UTSW 10 58,318,916 (GRCm39) missense possibly damaging 0.90
R1589:Ranbp2 UTSW 10 58,299,808 (GRCm39) missense probably benign 0.01
R1711:Ranbp2 UTSW 10 58,296,341 (GRCm39) missense probably benign 0.11
R1761:Ranbp2 UTSW 10 58,321,563 (GRCm39) missense probably benign 0.02
R1840:Ranbp2 UTSW 10 58,314,588 (GRCm39) missense probably benign 0.41
R1869:Ranbp2 UTSW 10 58,328,383 (GRCm39) missense probably damaging 1.00
R1871:Ranbp2 UTSW 10 58,328,383 (GRCm39) missense probably damaging 1.00
R1892:Ranbp2 UTSW 10 58,299,921 (GRCm39) missense probably benign 0.36
R2270:Ranbp2 UTSW 10 58,291,749 (GRCm39) missense probably benign 0.06
R2363:Ranbp2 UTSW 10 58,314,758 (GRCm39) missense possibly damaging 0.79
R3844:Ranbp2 UTSW 10 58,313,717 (GRCm39) missense possibly damaging 0.87
R3937:Ranbp2 UTSW 10 58,312,294 (GRCm39) missense probably benign 0.00
R3938:Ranbp2 UTSW 10 58,312,294 (GRCm39) missense probably benign 0.00
R4025:Ranbp2 UTSW 10 58,316,378 (GRCm39) missense probably benign 0.23
R4183:Ranbp2 UTSW 10 58,301,488 (GRCm39) missense possibly damaging 0.53
R4247:Ranbp2 UTSW 10 58,314,686 (GRCm39) missense possibly damaging 0.79
R4334:Ranbp2 UTSW 10 58,299,816 (GRCm39) missense probably damaging 1.00
R4656:Ranbp2 UTSW 10 58,289,244 (GRCm39) missense possibly damaging 0.82
R4746:Ranbp2 UTSW 10 58,328,492 (GRCm39) missense probably damaging 1.00
R4852:Ranbp2 UTSW 10 58,312,878 (GRCm39) missense possibly damaging 0.94
R4863:Ranbp2 UTSW 10 58,328,243 (GRCm39) missense probably damaging 0.99
R5011:Ranbp2 UTSW 10 58,297,717 (GRCm39) missense probably benign 0.36
R5014:Ranbp2 UTSW 10 58,299,942 (GRCm39) missense probably benign 0.40
R5145:Ranbp2 UTSW 10 58,315,860 (GRCm39) missense probably damaging 1.00
R5178:Ranbp2 UTSW 10 58,312,607 (GRCm39) missense probably benign 0.01
R5199:Ranbp2 UTSW 10 58,300,265 (GRCm39) missense probably benign
R5294:Ranbp2 UTSW 10 58,314,490 (GRCm39) missense probably benign 0.23
R5508:Ranbp2 UTSW 10 58,315,827 (GRCm39) missense probably damaging 0.97
R5511:Ranbp2 UTSW 10 58,329,561 (GRCm39) missense probably benign 0.29
R5575:Ranbp2 UTSW 10 58,328,405 (GRCm39) missense probably damaging 1.00
R5617:Ranbp2 UTSW 10 58,301,489 (GRCm39) missense probably damaging 1.00
R5630:Ranbp2 UTSW 10 58,314,898 (GRCm39) missense probably damaging 1.00
R5733:Ranbp2 UTSW 10 58,321,658 (GRCm39) missense probably damaging 1.00
R5751:Ranbp2 UTSW 10 58,300,086 (GRCm39) splice site probably null
R5767:Ranbp2 UTSW 10 58,312,647 (GRCm39) missense probably benign 0.02
R6122:Ranbp2 UTSW 10 58,301,351 (GRCm39) missense probably benign 0.02
R6147:Ranbp2 UTSW 10 58,315,250 (GRCm39) missense probably damaging 1.00
R6286:Ranbp2 UTSW 10 58,315,394 (GRCm39) missense probably benign 0.02
R6344:Ranbp2 UTSW 10 58,319,708 (GRCm39) splice site probably null
R6452:Ranbp2 UTSW 10 58,313,979 (GRCm39) missense probably benign 0.00
R6487:Ranbp2 UTSW 10 58,321,563 (GRCm39) missense probably benign 0.02
R6620:Ranbp2 UTSW 10 58,291,629 (GRCm39) critical splice acceptor site probably null
R6759:Ranbp2 UTSW 10 58,293,559 (GRCm39) nonsense probably null
R7010:Ranbp2 UTSW 10 58,290,393 (GRCm39) critical splice acceptor site probably null
R7071:Ranbp2 UTSW 10 58,328,659 (GRCm39) missense probably damaging 1.00
R7083:Ranbp2 UTSW 10 58,315,052 (GRCm39) missense probably damaging 1.00
R7088:Ranbp2 UTSW 10 58,299,728 (GRCm39) missense probably damaging 1.00
R7102:Ranbp2 UTSW 10 58,299,772 (GRCm39) missense probably damaging 1.00
R7194:Ranbp2 UTSW 10 58,312,591 (GRCm39) missense probably benign 0.05
R7217:Ranbp2 UTSW 10 58,287,839 (GRCm39) missense probably damaging 1.00
R7318:Ranbp2 UTSW 10 58,318,909 (GRCm39) nonsense probably null
R7341:Ranbp2 UTSW 10 58,321,619 (GRCm39) missense possibly damaging 0.72
R7398:Ranbp2 UTSW 10 58,303,099 (GRCm39) missense probably damaging 1.00
R7424:Ranbp2 UTSW 10 58,315,016 (GRCm39) missense probably damaging 0.98
R7727:Ranbp2 UTSW 10 58,291,260 (GRCm39) missense probably benign 0.09
R7795:Ranbp2 UTSW 10 58,319,729 (GRCm39) nonsense probably null
R7812:Ranbp2 UTSW 10 58,303,224 (GRCm39) missense probably benign
R7845:Ranbp2 UTSW 10 58,282,844 (GRCm39) missense probably damaging 1.00
R7875:Ranbp2 UTSW 10 58,314,277 (GRCm39) nonsense probably null
R7934:Ranbp2 UTSW 10 58,312,297 (GRCm39) missense probably damaging 0.98
R8022:Ranbp2 UTSW 10 58,321,683 (GRCm39) missense possibly damaging 0.53
R8050:Ranbp2 UTSW 10 58,315,441 (GRCm39) missense probably damaging 0.99
R8100:Ranbp2 UTSW 10 58,326,470 (GRCm39) missense possibly damaging 0.58
R8194:Ranbp2 UTSW 10 58,291,747 (GRCm39) missense possibly damaging 0.84
R8258:Ranbp2 UTSW 10 58,291,755 (GRCm39) missense probably benign 0.04
R8259:Ranbp2 UTSW 10 58,291,755 (GRCm39) missense probably benign 0.04
R8461:Ranbp2 UTSW 10 58,312,216 (GRCm39) missense probably damaging 0.97
R8722:Ranbp2 UTSW 10 58,312,049 (GRCm39) missense probably damaging 1.00
R8755:Ranbp2 UTSW 10 58,300,969 (GRCm39) nonsense probably null
R8794:Ranbp2 UTSW 10 58,328,414 (GRCm39) missense probably damaging 1.00
R8879:Ranbp2 UTSW 10 58,313,711 (GRCm39) missense probably benign 0.10
R8994:Ranbp2 UTSW 10 58,315,891 (GRCm39) missense possibly damaging 0.89
R9023:Ranbp2 UTSW 10 58,315,343 (GRCm39) nonsense probably null
R9124:Ranbp2 UTSW 10 58,328,719 (GRCm39) missense probably benign 0.01
R9133:Ranbp2 UTSW 10 58,313,050 (GRCm39) missense probably damaging 1.00
R9145:Ranbp2 UTSW 10 58,291,736 (GRCm39) missense probably benign 0.03
R9190:Ranbp2 UTSW 10 58,313,117 (GRCm39) missense probably damaging 1.00
R9369:Ranbp2 UTSW 10 58,316,486 (GRCm39) missense probably benign 0.04
R9394:Ranbp2 UTSW 10 58,291,698 (GRCm39) missense probably damaging 0.97
R9642:Ranbp2 UTSW 10 58,318,907 (GRCm39) missense probably damaging 0.99
R9673:Ranbp2 UTSW 10 58,300,963 (GRCm39) missense probably damaging 1.00
X0018:Ranbp2 UTSW 10 58,314,406 (GRCm39) missense probably benign 0.13
X0022:Ranbp2 UTSW 10 58,300,977 (GRCm39) missense probably benign 0.33
Z1088:Ranbp2 UTSW 10 58,328,715 (GRCm39) missense probably benign 0.35
Z1088:Ranbp2 UTSW 10 58,313,805 (GRCm39) frame shift probably null
Z1088:Ranbp2 UTSW 10 58,313,794 (GRCm39) frame shift probably null
Z1176:Ranbp2 UTSW 10 58,297,708 (GRCm39) missense probably damaging 1.00
Z1177:Ranbp2 UTSW 10 58,329,713 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCATTTTGAGCCAGTAGTGC -3'
(R):5'- ACGTTGACACTCCTCAAATTTCTG -3'

Sequencing Primer
(F):5'- TTGAGCCAGTAGTGCAGATGCC -3'
(R):5'- GCTTGAATTCTTCAGCTAGCTCTGG -3'
Posted On 2014-06-23