Mutagenetix > Incidental Mutation

Incidental Mutation 'R6759:Ranbp2'

531150

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

044875-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6759 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58282674-58329977 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 58293559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 310 (R310*)

Ref Sequence

ENSEMBL: ENSMUSP00000003310 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000003310
AA Change: R310*

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: R310*

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

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

98% (49/50)

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
2900026A02Rik	T	C	5: 113,331,692 (GRCm39)	S841G	probably benign	Het
4933427I04Rik	G	T	4: 123,753,879 (GRCm39)		probably benign	Het
Aak1	A	G	6: 86,921,399 (GRCm39)	T199A	probably damaging	Het
Acnat2	C	A	4: 49,380,254 (GRCm39)	V375L	probably benign	Het
Aldh1a7	T	C	19: 20,677,320 (GRCm39)	T434A	possibly damaging	Het
Aldh3a2	T	C	11: 61,156,088 (GRCm39)	T63A	probably benign	Het
Anxa2	T	C	9: 69,391,103 (GRCm39)	S97P	probably damaging	Het
Apip	T	C	2: 102,922,191 (GRCm39)	S186P	probably benign	Het
Apob	A	G	12: 8,061,049 (GRCm39)	K3177R	probably benign	Het
Atm	C	T	9: 53,429,859 (GRCm39)	W392*	probably null	Het
Atp8b1	T	A	18: 64,679,161 (GRCm39)	R773S	probably benign	Het
Bicdl2	T	A	17: 23,885,718 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,042,234 (GRCm39)	T2740I	possibly damaging	Het
Cacng3	G	A	7: 122,361,547 (GRCm39)		probably null	Het
Clca3a1	G	T	3: 144,455,450 (GRCm39)	L448M	probably damaging	Het
Clk4	A	G	11: 51,166,401 (GRCm39)	I94M	possibly damaging	Het
Cnot3	G	T	7: 3,654,918 (GRCm39)	V124F	probably damaging	Het
Cyp4a30b	C	T	4: 115,318,571 (GRCm39)	A426V	probably benign	Het
Dact1	T	A	12: 71,364,911 (GRCm39)	L564*	probably null	Het
Dnah8	T	A	17: 30,882,266 (GRCm39)		probably null	Het
Dock5	T	A	14: 68,033,445 (GRCm39)	T975S	probably benign	Het
Dock8	C	A	19: 25,104,848 (GRCm39)	H739Q	probably damaging	Het
Efr3b	T	A	12: 4,034,613 (GRCm39)	N186Y	probably damaging	Het
Enam	G	A	5: 88,649,550 (GRCm39)	G278D	probably damaging	Het
Fgl2	A	G	5: 21,578,256 (GRCm39)	D181G	probably benign	Het
Gfra3	G	T	18: 34,828,926 (GRCm39)	S156*	probably null	Het
Jam3	G	C	9: 27,013,276 (GRCm39)	T98S	probably benign	Het
Ltbp2	A	T	12: 84,834,184 (GRCm39)	I1435N	probably damaging	Het
Man2a1	G	A	17: 64,932,383 (GRCm39)	A157T	probably benign	Het
Mcm3ap	T	A	10: 76,337,148 (GRCm39)	V1361E	probably benign	Het
Nobox	A	T	6: 43,284,538 (GRCm39)	L36Q	possibly damaging	Het
Or2ag12	T	A	7: 106,277,100 (GRCm39)	M198L	probably benign	Het
Or51a10	A	G	7: 103,699,334 (GRCm39)	S76P	probably damaging	Het
Parp4	G	A	14: 56,857,947 (GRCm39)	V860I	probably benign	Het
Pim3	T	A	15: 88,747,296 (GRCm39)		probably null	Het
Ptpn13	A	T	5: 103,713,121 (GRCm39)	N1748I	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,145 (GRCm39)	T356A	possibly damaging	Het
Rassf5	C	T	1: 131,109,988 (GRCm39)	V190I	probably benign	Het
Rgl1	T	G	1: 152,409,281 (GRCm39)	Q481P	probably damaging	Het
Rrp1b	A	G	17: 32,276,063 (GRCm39)	T537A	probably benign	Het
Smok3c	T	A	5: 138,063,699 (GRCm39)	S395R	probably benign	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Strn4	A	T	7: 16,556,978 (GRCm39)	E145V	probably damaging	Het
Tex21	T	A	12: 76,251,086 (GRCm39)		probably null	Het
Usp37	G	A	1: 74,534,908 (GRCm39)	R13*	probably null	Het
Uty	G	T	Y: 1,174,735 (GRCm39)	L222I	probably damaging	Homo
Wwp2	A	G	8: 108,267,314 (GRCm39)	T309A	probably damaging	Het
Zfp40	C	T	17: 23,395,510 (GRCm39)	R359H	possibly 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
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
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'- TGTGGACTGCCTGTTTACTC -3'
(R):5'- GCATTAACGCCTGCTTCACC -3'

Sequencing Primer
(F):5'- AGTGCTCTTCAGTCTGTG -3'
(R):5'- CAATGCACTGACCTTGTTAGAG -3'

Posted On

2018-08-01