Incidental Mutation 'R9369:Ranbp2'
ID 709216
Institutional Source Beutler Lab
Gene Symbol Ranbp2
Ensembl Gene ENSMUSG00000003226
Gene Name RAN binding protein 2
Synonyms A430087B05Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9369 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 58282674-58329977 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58316486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2402 (V2402A)
Ref Sequence ENSEMBL: ENSMUSP00000003310 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003310]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000003310
AA Change: V2402A

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: V2402A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
9330159F19Rik T A 10: 29,100,974 (GRCm39) V449D probably damaging Het
Abca13 G T 11: 9,328,444 (GRCm39) V3506L probably damaging Het
Accs G A 2: 93,666,093 (GRCm39) Q498* probably null Het
Ankrd17 C T 5: 90,416,508 (GRCm39) R1108Q probably damaging Het
C2cd2 T C 16: 97,723,333 (GRCm39) I61M possibly damaging Het
Cd22 T C 7: 30,576,999 (GRCm39) T103A probably benign Het
Cd55 A T 1: 130,375,187 (GRCm39) L150* probably null Het
Ces3b A G 8: 105,813,502 (GRCm39) S258G probably damaging Het
Cln6 A G 9: 62,754,431 (GRCm39) T158A probably damaging Het
Dnah7a T C 1: 53,543,421 (GRCm39) K2250E probably benign Het
Dnah7a T A 1: 53,564,222 (GRCm39) N1946Y possibly damaging Het
Emb G T 13: 117,357,096 (GRCm39) probably benign Het
Eps15 T A 4: 109,240,034 (GRCm39) D492E probably damaging Het
Ern1 A T 11: 106,305,259 (GRCm39) M377K probably benign Het
Esrrb A G 12: 86,517,102 (GRCm39) D78G probably damaging Het
Fat2 A T 11: 55,201,514 (GRCm39) M520K possibly damaging Het
Foxb1 A G 9: 69,666,930 (GRCm39) L200P probably damaging Het
Gli2 G T 1: 118,765,885 (GRCm39) N755K probably benign Het
Gnal A G 18: 67,324,439 (GRCm39) probably null Het
Gxylt1 A T 15: 93,172,896 (GRCm39) F23I possibly damaging Het
Hsd17b13 T A 5: 104,125,034 (GRCm39) R50W probably damaging Het
Htr5b G C 1: 121,455,482 (GRCm39) A146G possibly damaging Het
Ifi206 A G 1: 173,301,489 (GRCm39) F730L unknown Het
Ifrd2 C T 9: 107,467,802 (GRCm39) Q163* probably null Het
Ift88 A T 14: 57,685,137 (GRCm39) I318F probably benign Het
Ighv5-12 T A 12: 113,665,985 (GRCm39) K38* probably null Het
Il17rc T C 6: 113,449,641 (GRCm39) S112P probably benign Het
Itgb7 T C 15: 102,131,821 (GRCm39) N254S probably damaging Het
Jak2 T A 19: 29,266,203 (GRCm39) probably null Het
Jmjd8 A T 17: 26,048,686 (GRCm39) H100L unknown Het
Kcnh4 T C 11: 100,648,428 (GRCm39) E92G probably damaging Het
Kif13a T C 13: 46,940,099 (GRCm39) I989V probably damaging Het
Kif5b A T 18: 6,223,584 (GRCm39) N308K probably damaging Het
Loxl3 A T 6: 83,027,393 (GRCm39) T683S probably benign Het
Macf1 C T 4: 123,349,150 (GRCm39) probably null Het
Met A G 6: 17,492,228 (GRCm39) K330R probably benign Het
Mideas A G 12: 84,219,670 (GRCm39) V428A probably benign Het
Mybl1 T C 1: 9,742,829 (GRCm39) E593G probably damaging Het
N4bp2 T G 5: 65,964,259 (GRCm39) D769E probably damaging Het
Or10ak13 T A 4: 118,639,077 (GRCm39) Q235L probably benign Het
Or10j3b A G 1: 173,043,451 (GRCm39) I78V possibly damaging Het
Or52ae7 A G 7: 103,119,555 (GRCm39) Y103C probably benign Het
Otoa C T 7: 120,744,840 (GRCm39) A866V probably benign Het
Pak4 A G 7: 28,260,240 (GRCm39) L492P probably damaging Het
Pctp A T 11: 89,876,938 (GRCm39) L187H probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phf8-ps T G 17: 33,285,579 (GRCm39) T408P probably damaging Het
Pik3ap1 T G 19: 41,317,743 (GRCm39) D204A probably damaging Het
Pitrm1 T C 13: 6,603,280 (GRCm39) V110A probably benign Het
Prokr1 A T 6: 87,558,407 (GRCm39) V326E possibly damaging Het
Prrt2 T C 7: 126,619,343 (GRCm39) I41V probably benign Het
Psmb1 A G 17: 15,710,478 (GRCm39) Y24H probably damaging Het
Ptpdc1 C T 13: 48,736,722 (GRCm39) A683T possibly damaging Het
Ptprb A G 10: 116,151,057 (GRCm39) K240E probably benign Het
Rictor T C 15: 6,773,848 (GRCm39) F79L probably benign Het
Ripk2 A C 4: 16,127,651 (GRCm39) S364A probably benign Het
S100a4 A T 3: 90,512,394 (GRCm39) K26* probably null Het
Shank1 A G 7: 44,001,478 (GRCm39) T1066A unknown Het
Slc9b2 A G 3: 135,036,446 (GRCm39) T417A probably benign Het
Slf2 C T 19: 44,923,953 (GRCm39) Q256* probably null Het
Smad5 T C 13: 56,885,242 (GRCm39) V450A possibly damaging Het
Smok3c A C 5: 138,063,770 (GRCm39) D419A probably damaging Het
Tdpoz4 A T 3: 93,703,741 (GRCm39) T13S probably damaging Het
Tdrd6 A T 17: 43,936,217 (GRCm39) N1610K probably damaging Het
Tex19.2 A G 11: 121,007,566 (GRCm39) L294P possibly damaging Het
Tex44 T C 1: 86,355,383 (GRCm39) W431R probably damaging Het
Tmcc1 A T 6: 116,111,050 (GRCm39) V77E probably benign Het
Tmed4 A T 11: 6,224,133 (GRCm39) M121K possibly damaging Het
Trit1 T C 4: 122,945,898 (GRCm39) V349A possibly damaging Het
Txndc15 C T 13: 55,869,507 (GRCm39) A220V probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Ufd1 T C 16: 18,634,113 (GRCm39) probably null Het
Umps T C 16: 33,777,206 (GRCm39) N458S probably benign Het
Vmn2r24 A C 6: 123,792,357 (GRCm39) Q561H probably damaging Het
Vwce T G 19: 10,624,061 (GRCm39) S317R probably benign Het
Zfp7 TGCGGGAAAGGTTTCCACCTGAGCG TGCG 15: 76,774,800 (GRCm39) probably benign Het
Zfp977 A T 7: 42,229,518 (GRCm39) F336I probably damaging Het
Zranb3 A T 1: 127,887,828 (GRCm39) D866E probably benign 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
R1831:Ranbp2 UTSW 10 58,315,044 (GRCm39) nonsense probably null
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
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'- AAAAGCAGTAGTTTCTCCTCCTAAG -3'
(R):5'- ACGATACTGTCTCTTCAGTGGTC -3'

Sequencing Primer
(F):5'- CCTAAGTTTGTATTTGGCTCAGAATC -3'
(R):5'- AGCTTTTTAGGGATTAAACTTGTCC -3'
Posted On 2022-04-18