Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Ranbp2'

617467

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58446920-58494356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58485861 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 2660 (D2660A)

Ref Sequence

ENSEMBL: ENSMUSP00000003310 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003310
AA Change: D2660A

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: D2660A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,409,376	H273L	probably benign	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	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
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
R7934:Ranbp2	UTSW	10	58476475	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AATCAGAGAGGTAGGTTGGTTC -3'
(R):5'- GCAATGATTGTTTGATTACTGTGAC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- ACTGTGACAAATACATTATGCTCC -3'

Posted On

2020-01-23