Mutagenetix > Incidental Mutation

Incidental Mutation 'R5630:Ranbp2'

442065

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

043281-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5630 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58282674-58329977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 58314898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 1873 (Y1873D)

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: Y1873D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: Y1873D

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: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3s2	A	T	7: 79,559,647 (GRCm39)	V94E	probably damaging	Het
Aven	T	A	2: 112,344,890 (GRCm39)	Y109*	probably null	Het
Cad	T	C	5: 31,217,917 (GRCm39)	S401P	probably damaging	Het
Ccdc122	A	T	14: 77,330,216 (GRCm39)	I189F	probably damaging	Het
Cdkal1	A	T	13: 29,961,198 (GRCm39)		probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cnih4	C	G	1: 180,989,748 (GRCm39)	F120L	probably benign	Het
Cntnap5b	A	G	1: 99,999,794 (GRCm39)	D184G	probably damaging	Het
Cpa2	T	A	6: 30,550,731 (GRCm39)		probably null	Het
Cpne5	T	C	17: 29,445,190 (GRCm39)	D38G	probably damaging	Het
Dst	GGAATCGTGCACTCGAA	GGAA	1: 34,227,866 (GRCm39)		probably null	Het
E330034G19Rik	A	G	14: 24,358,336 (GRCm39)		probably benign	Het
Flrt1	A	T	19: 7,073,830 (GRCm39)	I239N	probably damaging	Het
Foxb1	T	A	9: 69,667,402 (GRCm39)	I43F	probably damaging	Het
Kcnq3	A	G	15: 65,896,971 (GRCm39)	W310R	probably damaging	Het
Klrb1a	A	T	6: 128,595,573 (GRCm39)	D60E	probably benign	Het
Lbr	A	G	1: 181,644,529 (GRCm39)		probably null	Het
Lsm8	T	A	6: 18,851,672 (GRCm39)	I41N	probably damaging	Het
Mroh7	T	C	4: 106,577,764 (GRCm39)	M305V	possibly damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Or5p4	T	A	7: 107,680,323 (GRCm39)	F107L	probably benign	Het
Or8c10	T	C	9: 38,279,402 (GRCm39)	Y177H	probably damaging	Het
Or8g20	T	A	9: 39,396,247 (GRCm39)	M98L	probably benign	Het
Pcdhb5	A	T	18: 37,454,208 (GRCm39)	D196V	possibly damaging	Het
Pcmt1	A	G	10: 7,524,857 (GRCm39)	Y84H	probably damaging	Het
Pcnx2	A	T	8: 126,587,697 (GRCm39)	I877K	probably damaging	Het
Pcsk5	A	G	19: 17,553,195 (GRCm39)	Y662H	probably benign	Het
Prdx1	T	A	4: 116,556,414 (GRCm39)	D187E	probably benign	Het
Rcor2	A	T	19: 7,248,416 (GRCm39)	R144W	probably damaging	Het
Rptor	T	G	11: 119,647,075 (GRCm39)	I222S	probably benign	Het
Rrp8	C	A	7: 105,382,608 (GRCm39)	R448L	possibly damaging	Het
Ryr2	A	T	13: 11,616,691 (GRCm39)	I3909N	probably damaging	Het
Scn2a	T	G	2: 65,556,709 (GRCm39)	V1147G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Smox	C	T	2: 131,366,786 (GRCm39)	Q582*	probably null	Het
Sqor	T	A	2: 122,651,277 (GRCm39)	L180H	possibly damaging	Het
Stox2	T	C	8: 47,644,925 (GRCm39)	D845G	probably damaging	Het
Szt2	T	C	4: 118,250,102 (GRCm39)	I469V	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tox	C	CTGGAGT	4: 6,688,835 (GRCm39)		probably benign	Het
Trgc2	A	G	13: 19,489,279 (GRCm39)	F151S	possibly damaging	Het
Upf2	T	C	2: 6,032,112 (GRCm39)	V141A	probably damaging	Het
Usp54	A	G	14: 20,615,125 (GRCm39)	L772P	probably damaging	Het
Vmn2r83	A	T	10: 79,327,785 (GRCm39)	T798S	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp143	C	T	7: 109,687,980 (GRCm39)	T473I	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
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
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'- CTCGTCACAAAGCGGCAAAG -3'
(R):5'- TCGGAGAAATCACTAGCTAGC -3'

Sequencing Primer
(F):5'- CAAAGCGGCAAAGTGGCTG -3'
(R):5'- ATGCTCTATCTGACCCCGAGAGAG -3'

Posted On

2016-11-08