Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00336:Ranbp2'

4721

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00336

Quality Score

Status

Chromosome

Chromosomal Location

58446920-58494356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58451984 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 25 (K25E)

Ref Sequence

ENSEMBL: ENSMUSP00000003310 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003310
AA Change: K25E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: K25E

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	T	13: 63,015,423	D86V	possibly damaging	Het
A430033K04Rik	A	G	5: 138,647,104	Y417C	probably damaging	Het
Adam28	T	A	14: 68,622,120	H548L	possibly damaging	Het
AF529169	T	C	9: 89,603,143	D67G	probably damaging	Het
Agbl3	A	T	6: 34,846,836	D812V	probably damaging	Het
Aox1	T	A	1: 58,059,044	L305Q	probably damaging	Het
Arhgef38	A	G	3: 133,132,051	V706A	probably benign	Het
Arl15	A	G	13: 114,154,752	I171V	probably benign	Het
Cacna1s	C	A	1: 136,084,273	Y237*	probably null	Het
Ccnt1	T	C	15: 98,565,109	T61A	possibly damaging	Het
Col25a1	T	A	3: 130,181,784		probably benign	Het
Col4a1	T	A	8: 11,240,077		probably benign	Het
Dcun1d1	T	C	3: 35,916,306	E130G	possibly damaging	Het
Dnah7b	G	A	1: 46,142,149	M1065I	probably benign	Het
Ephb2	T	G	4: 136,657,484	K872T	probably damaging	Het
Fga	G	A	3: 83,031,674	G452D	probably damaging	Het
Flrt1	T	A	19: 7,096,912	N90I	probably damaging	Het
Fut10	T	A	8: 31,195,291		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr137b	T	C	13: 13,374,415		probably benign	Het
Gprc5d	G	A	6: 135,116,490	Q140*	probably null	Het
Ifi27l2b	T	C	12: 103,451,217	K237R	unknown	Het
Ipo8	A	T	6: 148,782,786	M836K	possibly damaging	Het
Kcnq4	G	A	4: 120,698,016	Q657*	probably null	Het
Lama1	A	T	17: 67,813,948	H2693L	probably benign	Het
Lrrc23	A	G	6: 124,778,926	W40R	probably damaging	Het
Morn2	C	A	17: 80,295,504		probably benign	Het
Ms4a6b	T	A	19: 11,529,490	N214K	possibly damaging	Het
Nags	A	T	11: 102,149,066	S527C	probably damaging	Het
Ndst1	C	T	18: 60,707,956	G218D	probably damaging	Het
Olfr1097	C	T	2: 86,890,245	C310Y	probably benign	Het
Olfr1442	T	A	19: 12,674,560	Y118*	probably null	Het
Olfr16	G	A	1: 172,957,478	V228M	probably benign	Het
Oxa1l	G	T	14: 54,363,345	G92*	probably null	Het
Parp16	A	T	9: 65,229,963	E157V	probably damaging	Het
Pcdh17	A	T	14: 84,447,544	I484F	probably damaging	Het
Pex16	A	G	2: 92,379,235	R263G	probably benign	Het
Pkd1l3	G	A	8: 109,630,237	E765K	possibly damaging	Het
Plce1	T	C	19: 38,651,906	V532A	probably damaging	Het
Polq	A	G	16: 37,065,247		probably benign	Het
Pramel5	T	C	4: 144,271,621	T351A	probably damaging	Het
Prokr1	A	T	6: 87,588,611	I84N	probably damaging	Het
Prss30	A	T	17: 23,973,721	S162T	probably benign	Het
Rapsn	A	G	2: 91,035,860	T22A	probably damaging	Het
Rhoj	G	T	12: 75,308,906	G9V	probably damaging	Het
Rnf213	A	G	11: 119,449,343	R3467G	probably benign	Het
Rreb1	C	A	13: 37,929,646	S327*	probably null	Het
Scn5a	G	A	9: 119,486,224	P1806L	probably damaging	Het
Sema6a	C	A	18: 47,289,975		probably null	Het
Stag3	G	A	5: 138,297,659	E416K	probably benign	Het
Stpg1	T	A	4: 135,529,545	S216T	possibly damaging	Het
Tfeb	C	A	17: 47,791,664	N426K	probably benign	Het
Trp53bp1	G	T	2: 121,256,579	Q199K	possibly damaging	Het
Ubr4	A	G	4: 139,428,566	D2234G	probably damaging	Het
Ush1c	T	G	7: 46,196,770	Q866P	probably benign	Het
Vdr	T	A	15: 97,884,854	D29V	probably damaging	Het
Vps13c	T	C	9: 67,945,942	V2439A	probably benign	Het
Xirp2	T	C	2: 67,512,598	S1728P	possibly damaging	Het
Zfp9	A	G	6: 118,464,475	S409P	probably damaging	Het

Other mutations in Ranbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ranbp2	APN	10	58477256	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
IGL02096:Ranbp2	APN	10	58461967	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
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
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

2012-04-20