Mutagenetix > Incidental Mutation

Incidental Mutation 'R0441:Ranbp2'

39170

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

038642-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58282674-58329977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58321590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2629 (E2629G)

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: E2629G

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: E2629G

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

Meta Mutation Damage Score

0.0934

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (71/71)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,689 (GRCm39)		probably benign	Het
Adgrv1	G	A	13: 81,545,345 (GRCm39)	R5647*	probably null	Het
Agbl2	C	T	2: 90,627,827 (GRCm39)	R211*	probably null	Het
Akap9	A	G	5: 4,011,714 (GRCm39)	K806E	probably benign	Het
Ampd1	C	G	3: 102,995,794 (GRCm39)	L235V	probably benign	Het
Atcay	T	C	10: 81,060,294 (GRCm39)	D14G	possibly damaging	Het
Atp8b4	C	T	2: 126,220,626 (GRCm39)		probably benign	Het
Bmp8b	T	C	4: 123,018,308 (GRCm39)	V393A	probably damaging	Het
Brca2	T	A	5: 150,465,322 (GRCm39)	D1695E	probably damaging	Het
Cdh15	A	G	8: 123,587,705 (GRCm39)	I210V	probably damaging	Het
Cep250	T	C	2: 155,813,924 (GRCm39)	L564P	possibly damaging	Het
Cmpk1	T	C	4: 114,822,220 (GRCm39)	T110A	probably benign	Het
Cpsf3	T	G	12: 21,350,085 (GRCm39)	I268S	probably damaging	Het
Csmd2	C	T	4: 128,414,023 (GRCm39)	A2621V	probably benign	Het
Cyp2c40	T	C	19: 39,795,607 (GRCm39)		probably benign	Het
D430041D05Rik	T	A	2: 103,998,292 (GRCm39)	Y1837F	probably damaging	Het
Degs2	A	G	12: 108,668,469 (GRCm39)	F10S	probably damaging	Het
Dytn	T	A	1: 63,717,933 (GRCm39)		probably benign	Het
Elfn2	G	C	15: 78,557,795 (GRCm39)	P251A	probably benign	Het
Epg5	T	C	18: 78,066,486 (GRCm39)		probably benign	Het
Evc2	A	G	5: 37,574,811 (GRCm39)	D1022G	probably damaging	Het
Fat3	A	G	9: 15,856,304 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,151,675 (GRCm39)		probably null	Het
Gm15217	T	C	14: 46,620,676 (GRCm39)		probably null	Het
Gm17611	A	T	13: 50,130,435 (GRCm39)		noncoding transcript	Het
Gpld1	G	A	13: 25,146,303 (GRCm39)	W182*	probably null	Het
Gsc	T	C	12: 104,439,353 (GRCm39)	I8V	probably damaging	Het
Hck	A	G	2: 152,976,052 (GRCm39)	K197R	probably benign	Het
Kat6b	T	C	14: 21,720,301 (GRCm39)	L1551P	probably damaging	Het
Lrch1	C	T	14: 75,184,985 (GRCm39)	G39D	possibly damaging	Het
Macf1	T	C	4: 123,259,148 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,888,331 (GRCm39)	V248E	probably damaging	Het
Mrps15	C	A	4: 125,945,210 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Ndufa5	T	C	6: 24,522,750 (GRCm39)	T31A	probably benign	Het
Nfyb	A	G	10: 82,586,594 (GRCm39)	V190A	possibly damaging	Het
Nos2	A	G	11: 78,819,409 (GRCm39)	I40M	probably benign	Het
Or2f2	T	C	6: 42,767,108 (GRCm39)	I45T	probably damaging	Het
Or5ar1	A	T	2: 85,671,859 (GRCm39)	I92N	probably damaging	Het
Or8k37	A	T	2: 86,469,674 (GRCm39)	I126K	probably damaging	Het
Otog	T	C	7: 45,955,301 (GRCm39)	S564P	probably damaging	Het
Pak5	C	T	2: 135,958,549 (GRCm39)	A180T	probably benign	Het
Pappa2	T	C	1: 158,590,628 (GRCm39)		probably benign	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Plxnc1	T	A	10: 94,632,344 (GRCm39)	N1431I	probably damaging	Het
Prph	A	T	15: 98,955,319 (GRCm39)	I429L	probably damaging	Het
Prrc2a	A	G	17: 35,368,664 (GRCm39)		probably benign	Het
Pwwp3a	A	T	10: 80,064,859 (GRCm39)	N30Y	probably damaging	Het
Rad54b	A	T	4: 11,563,394 (GRCm39)	T18S	probably benign	Het
Rec114	G	A	9: 58,565,053 (GRCm39)	T201I	probably benign	Het
Rspo1	G	A	4: 124,885,190 (GRCm39)	R22Q	probably benign	Het
Sec23b	A	G	2: 144,423,917 (GRCm39)	E522G	probably damaging	Het
Sgsm3	G	A	15: 80,893,971 (GRCm39)	R502H	possibly damaging	Het
Sh3pxd2b	C	A	11: 32,373,023 (GRCm39)	A730D	possibly damaging	Het
Spag4	A	G	2: 155,909,899 (GRCm39)	D187G	probably damaging	Het
Srgap2	G	A	1: 131,264,175 (GRCm39)	T465I	probably damaging	Het
St3gal6	G	T	16: 58,293,818 (GRCm39)	A237E	probably damaging	Het
St3gal6	C	A	16: 58,293,816 (GRCm39)	A238S	probably damaging	Het
Tecpr1	C	A	5: 144,132,759 (GRCm39)	R1159L	probably benign	Het
Tmem63b	A	T	17: 45,977,241 (GRCm39)		probably null	Het
Tmtc1	T	A	6: 148,317,256 (GRCm39)	D78V	probably damaging	Het
Tpp2	A	G	1: 44,029,722 (GRCm39)	N68D	possibly damaging	Het
Ttn	C	A	2: 76,770,269 (GRCm39)	A2641S	probably benign	Het
Uimc1	T	C	13: 55,241,032 (GRCm39)	K19E	probably damaging	Het
Utrn	T	A	10: 12,564,038 (GRCm39)	E1274V	probably null	Het
Vmn2r102	A	T	17: 19,914,630 (GRCm39)	I732F	probably damaging	Het
Wrn	A	T	8: 33,758,778 (GRCm39)	M792K	probably benign	Het
Zfp451	A	G	1: 33,816,126 (GRCm39)	I608T	probably damaging	Het

Other mutations in Ranbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AACTTCTCATTCTCCTAAACCTGTTAATGTCC -3'
(R):5'- ACTCTATTTTCTCAAACACATAGGCAGAACC -3'

Sequencing Primer
(F):5'- agttcagttcccagcaacc -3'
(R):5'- GCTTGGGAATTCCATGTCAGT -3'

Posted On

2013-05-23