Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02096:Ranbp2'

281117

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02096

Quality Score

Status

Chromosome

Chromosomal Location

58446920-58494356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58461967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 399 (S399T)

Ref Sequence

ENSEMBL: ENSMUSP00000003310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003310]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000003310
AA Change: S399T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: S399T

Domain	Start	End	E-Value	Type
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220131

Coding Region Coverage

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	C	A	13: 63,061,089	A340E	probably benign	Het
Abca9	A	G	11: 110,102,533	L1584P	probably damaging	Het
Abca9	G	T	11: 110,165,980	H5N	probably benign	Het
Acox1	A	T	11: 116,178,198	I371N	probably damaging	Het
Bmp5	A	G	9: 75,898,551	N445S	probably damaging	Het
Cacna1b	G	T	2: 24,678,915	A999E	probably benign	Het
Cdc27	A	T	11: 104,528,568		probably benign	Het
D430042O09Rik	G	A	7: 125,814,821	C379Y	probably benign	Het
Dmxl2	T	C	9: 54,401,065	E2134G	possibly damaging	Het
Dnttip2	A	G	3: 122,284,413	N698S	possibly damaging	Het
Duox1	A	T	2: 122,344,174	K1271M	probably damaging	Het
Dync1h1	T	C	12: 110,632,820	Y1870H	possibly damaging	Het
Edem3	A	G	1: 151,804,719	T532A	probably benign	Het
Epx	A	T	11: 87,869,468	L440Q	probably damaging	Het
F11	A	G	8: 45,246,754	F432L	probably benign	Het
Fam185a	C	A	5: 21,425,343	P59Q	probably damaging	Het
Fsip2	A	G	2: 82,991,860	D5979G	possibly damaging	Het
Furin	A	G	7: 80,393,459	S335P	probably damaging	Het
Gm10130	T	C	2: 150,323,714	Y5H	probably damaging	Het
Gtf3c1	T	A	7: 125,659,112	Q1262L	probably damaging	Het
Hmmr	A	T	11: 40,707,429	V652E	probably benign	Het
Iapp	A	T	6: 142,303,473	N84I	probably benign	Het
Mmp17	C	T	5: 129,598,688	Q304*	probably null	Het
Mpl	T	C	4: 118,457,136	T55A	possibly damaging	Het
Mst1r	G	A	9: 107,917,279	R1219H	probably damaging	Het
Muc6	T	A	7: 141,639,850		probably benign	Het
Nalcn	C	T	14: 123,594,503	V120I	probably benign	Het
Nt5dc1	A	T	10: 34,399,810	C134*	probably null	Het
Obscn	A	C	11: 59,080,704	N2228K	probably damaging	Het
Olfr135	T	A	17: 38,209,183	*313R	probably null	Het
Osbpl10	T	C	9: 115,216,994	M566T	possibly damaging	Het
Pabpc1l	G	A	2: 164,044,347	V466I	probably benign	Het
Pdcd11	T	G	19: 47,106,421	V548G	probably benign	Het
Prss27	G	T	17: 24,044,977	K212N	possibly damaging	Het
Rgs19	A	G	2: 181,689,283	S159P	probably damaging	Het
Sh2b1	A	G	7: 126,469,293	S449P	probably damaging	Het
Slc6a18	T	A	13: 73,672,751	Y238F	probably benign	Het
Stx11	T	C	10: 12,941,480	I167V	probably benign	Het
Sucnr1	A	G	3: 60,086,950	M300V	possibly damaging	Het
Synj2	A	G	17: 5,990,353	T235A	probably damaging	Het
Ubxn2b	T	A	4: 6,214,749	I261N	probably damaging	Het
Vmn2r43	G	A	7: 8,257,513		probably benign	Het
Vmn2r45	A	G	7: 8,481,444	M454T	probably damaging	Het
Vsig2	T	A	9: 37,539,955	S51T	probably damaging	Het
Wdr41	T	C	13: 95,017,456		probably benign	Het
Wdr6	A	C	9: 108,576,553	L44V	probably damaging	Het
Zfp592	T	C	7: 81,025,048	Y587H	probably damaging	Het
Zfp735	A	T	11: 73,711,428	K399N	probably benign	Het

Other mutations in Ranbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ranbp2	APN	10	58477256	missense	probably damaging	1.00
IGL00336:Ranbp2	APN	10	58451984	missense	probably damaging	1.00
IGL00486:Ranbp2	APN	10	58477612	missense	probably benign	0.06
IGL00800:Ranbp2	APN	10	58490704	missense	probably benign
IGL00834:Ranbp2	APN	10	58453323	missense	possibly damaging	0.94
IGL00852:Ranbp2	APN	10	58477901	missense	probably benign
IGL00984:Ranbp2	APN	10	58461964	nonsense	probably null
IGL01299:Ranbp2	APN	10	58492817	missense	probably damaging	1.00
IGL01325:Ranbp2	APN	10	58476298	missense	probably damaging	0.99
IGL01444:Ranbp2	APN	10	58475300	missense	possibly damaging	0.79
IGL01545:Ranbp2	APN	10	58478881	missense	possibly damaging	0.48
IGL01619:Ranbp2	APN	10	58464078	splice site	probably null
IGL01782:Ranbp2	APN	10	58478309	missense	probably damaging	0.97
IGL02020:Ranbp2	APN	10	58479947	missense	probably damaging	1.00
IGL02182:Ranbp2	APN	10	58485760	nonsense	probably null
IGL02211:Ranbp2	APN	10	58478242	missense	probably benign
IGL02249:Ranbp2	APN	10	58480078	missense	possibly damaging	0.89
IGL02268:Ranbp2	APN	10	58493653	unclassified	probably benign
IGL02421:Ranbp2	APN	10	58480554	missense	probably damaging	1.00
IGL03080:Ranbp2	APN	10	58476791	missense	probably benign	0.01
IGL03119:Ranbp2	APN	10	58452003	missense	probably damaging	1.00
IGL03206:Ranbp2	APN	10	58465547	missense	probably damaging	1.00
IGL03237:Ranbp2	APN	10	58492961	missense	probably damaging	0.98
En_passant	UTSW	10	58452017	missense	probably damaging	1.00
red_river	UTSW	10	58465667	missense	probably damaging	1.00
IGL02799:Ranbp2	UTSW	10	58480264	missense	probably damaging	1.00
R0058:Ranbp2	UTSW	10	58480531	missense	probably damaging	0.98
R0058:Ranbp2	UTSW	10	58480531	missense	probably damaging	0.98
R0145:Ranbp2	UTSW	10	58480046	missense	probably damaging	1.00
R0309:Ranbp2	UTSW	10	58479868	missense	probably benign	0.04
R0375:Ranbp2	UTSW	10	58477283	missense	probably damaging	1.00
R0441:Ranbp2	UTSW	10	58485768	missense	probably benign	0.40
R0494:Ranbp2	UTSW	10	58467432	missense	possibly damaging	0.53
R0542:Ranbp2	UTSW	10	58478414	missense	probably benign	0.02
R0565:Ranbp2	UTSW	10	58476336	missense	probably benign	0.41
R0608:Ranbp2	UTSW	10	58493898	missense	probably damaging	1.00
R0661:Ranbp2	UTSW	10	58478733	missense	probably benign
R0670:Ranbp2	UTSW	10	58480698	missense	probably benign	0.01
R0760:Ranbp2	UTSW	10	58476791	missense	possibly damaging	0.70
R0811:Ranbp2	UTSW	10	58465529	missense	probably benign	0.01
R0812:Ranbp2	UTSW	10	58465529	missense	probably benign	0.01
R1180:Ranbp2	UTSW	10	58465463	missense	probably damaging	1.00
R1196:Ranbp2	UTSW	10	58477053	missense	probably damaging	1.00
R1216:Ranbp2	UTSW	10	58483212	splice site	probably benign
R1374:Ranbp2	UTSW	10	58485893	splice site	probably benign
R1541:Ranbp2	UTSW	10	58483094	missense	possibly damaging	0.90
R1589:Ranbp2	UTSW	10	58463986	missense	probably benign	0.01
R1711:Ranbp2	UTSW	10	58460519	missense	probably benign	0.11
R1761:Ranbp2	UTSW	10	58485741	missense	probably benign	0.02
R1831:Ranbp2	UTSW	10	58479222	nonsense	probably null
R1840:Ranbp2	UTSW	10	58478766	missense	probably benign	0.41
R1869:Ranbp2	UTSW	10	58492561	missense	probably damaging	1.00
R1871:Ranbp2	UTSW	10	58492561	missense	probably damaging	1.00
R1892:Ranbp2	UTSW	10	58464099	missense	probably benign	0.36
R2270:Ranbp2	UTSW	10	58455927	missense	probably benign	0.06
R2363:Ranbp2	UTSW	10	58478936	missense	possibly damaging	0.79
R3844:Ranbp2	UTSW	10	58477895	missense	possibly damaging	0.87
R3937:Ranbp2	UTSW	10	58476472	missense	probably benign	0.00
R3938:Ranbp2	UTSW	10	58476472	missense	probably benign	0.00
R4025:Ranbp2	UTSW	10	58480556	missense	probably benign	0.23
R4183:Ranbp2	UTSW	10	58465666	missense	possibly damaging	0.53
R4247:Ranbp2	UTSW	10	58478864	missense	possibly damaging	0.79
R4334:Ranbp2	UTSW	10	58463994	missense	probably damaging	1.00
R4656:Ranbp2	UTSW	10	58453422	missense	possibly damaging	0.82
R4746:Ranbp2	UTSW	10	58492670	missense	probably damaging	1.00
R4852:Ranbp2	UTSW	10	58477056	missense	possibly damaging	0.94
R4863:Ranbp2	UTSW	10	58492421	missense	probably damaging	0.99
R5011:Ranbp2	UTSW	10	58461895	missense	probably benign	0.36
R5014:Ranbp2	UTSW	10	58464120	missense	probably benign	0.40
R5145:Ranbp2	UTSW	10	58480038	missense	probably damaging	1.00
R5178:Ranbp2	UTSW	10	58476785	missense	probably benign	0.01
R5199:Ranbp2	UTSW	10	58464443	missense	probably benign
R5294:Ranbp2	UTSW	10	58478668	missense	probably benign	0.23
R5508:Ranbp2	UTSW	10	58480005	missense	probably damaging	0.97
R5511:Ranbp2	UTSW	10	58493739	missense	probably benign	0.29
R5575:Ranbp2	UTSW	10	58492583	missense	probably damaging	1.00
R5617:Ranbp2	UTSW	10	58465667	missense	probably damaging	1.00
R5630:Ranbp2	UTSW	10	58479076	missense	probably damaging	1.00
R5733:Ranbp2	UTSW	10	58485836	missense	probably damaging	1.00
R5751:Ranbp2	UTSW	10	58464264	splice site	probably null
R5767:Ranbp2	UTSW	10	58476825	missense	probably benign	0.02
R6122:Ranbp2	UTSW	10	58465529	missense	probably benign	0.02
R6147:Ranbp2	UTSW	10	58479428	missense	probably damaging	1.00
R6286:Ranbp2	UTSW	10	58479572	missense	probably benign	0.02
R6344:Ranbp2	UTSW	10	58483886	splice site	probably null
R6452:Ranbp2	UTSW	10	58478157	missense	probably benign	0.00
R6487:Ranbp2	UTSW	10	58485741	missense	probably benign	0.02
R6620:Ranbp2	UTSW	10	58455807	critical splice acceptor site	probably null
R6759:Ranbp2	UTSW	10	58457737	nonsense	probably null
R7010:Ranbp2	UTSW	10	58454571	critical splice acceptor site	probably null
R7071:Ranbp2	UTSW	10	58492837	missense	probably damaging	1.00
R7083:Ranbp2	UTSW	10	58479230	missense	probably damaging	1.00
R7088:Ranbp2	UTSW	10	58463906	missense	probably damaging	1.00
R7102:Ranbp2	UTSW	10	58463950	missense	probably damaging	1.00
R7194:Ranbp2	UTSW	10	58476769	missense	probably benign	0.05
R7217:Ranbp2	UTSW	10	58452017	missense	probably damaging	1.00
R7318:Ranbp2	UTSW	10	58483087	nonsense	probably null
R7341:Ranbp2	UTSW	10	58485797	missense	possibly damaging	0.72
R7398:Ranbp2	UTSW	10	58467277	missense	probably damaging	1.00
R7424:Ranbp2	UTSW	10	58479194	missense	probably damaging	0.98
R7727:Ranbp2	UTSW	10	58455438	missense	probably benign	0.09
R7795:Ranbp2	UTSW	10	58483907	nonsense	probably null
R7812:Ranbp2	UTSW	10	58467402	missense	probably benign
R7845:Ranbp2	UTSW	10	58447022	missense	probably damaging	1.00
R7875:Ranbp2	UTSW	10	58478455	nonsense	probably null
R7934:Ranbp2	UTSW	10	58476475	missense	probably damaging	0.98
R8022:Ranbp2	UTSW	10	58485861	missense	possibly damaging	0.53
R8050:Ranbp2	UTSW	10	58479619	missense	probably damaging	0.99
R8100:Ranbp2	UTSW	10	58490648	missense	possibly damaging	0.58
R8194:Ranbp2	UTSW	10	58455925	missense	possibly damaging	0.84
R8258:Ranbp2	UTSW	10	58455933	missense	probably benign	0.04
R8259:Ranbp2	UTSW	10	58455933	missense	probably benign	0.04
R8461:Ranbp2	UTSW	10	58476394	missense	probably damaging	0.97
R8722:Ranbp2	UTSW	10	58476227	missense	probably damaging	1.00
R8755:Ranbp2	UTSW	10	58465147	nonsense	probably null
R8794:Ranbp2	UTSW	10	58492592	missense	probably damaging	1.00
R8879:Ranbp2	UTSW	10	58477889	missense	probably benign	0.10
R8994:Ranbp2	UTSW	10	58480069	missense	possibly damaging	0.89
R9023:Ranbp2	UTSW	10	58479521	nonsense	probably null
R9124:Ranbp2	UTSW	10	58492897	missense	probably benign	0.01
R9133:Ranbp2	UTSW	10	58477228	missense	probably damaging	1.00
R9145:Ranbp2	UTSW	10	58455914	missense	probably benign	0.03
R9190:Ranbp2	UTSW	10	58477295	missense	probably damaging	1.00
R9369:Ranbp2	UTSW	10	58480664	missense	probably benign	0.04
R9394:Ranbp2	UTSW	10	58455876	missense	probably damaging	0.97
R9642:Ranbp2	UTSW	10	58483085	missense	probably damaging	0.99
R9673:Ranbp2	UTSW	10	58465141	missense	probably damaging	1.00
X0018:Ranbp2	UTSW	10	58478584	missense	probably benign	0.13
X0022:Ranbp2	UTSW	10	58465155	missense	probably benign	0.33
Z1088:Ranbp2	UTSW	10	58477972	frame shift	probably null
Z1088:Ranbp2	UTSW	10	58477983	frame shift	probably null
Z1088:Ranbp2	UTSW	10	58492893	missense	probably benign	0.35
Z1176:Ranbp2	UTSW	10	58461886	missense	probably damaging	1.00
Z1177:Ranbp2	UTSW	10	58493891	nonsense	probably null

Posted On

2015-04-16