Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:Ranbp2'

676777

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

068747-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58446920-58494356 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58477889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1477 (V1477E)

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: V1477E

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: V1477E

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

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
9130401M01Rik	C	T	15: 58,022,509 (GRCm38)	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959 (GRCm38)	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486 (GRCm38)	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759 (GRCm38)		probably null	Het
B3gnt4	A	G	5: 123,511,148 (GRCm38)	D192G	probably damaging	Het
BC034090	T	C	1: 155,226,357 (GRCm38)	I54V	probably benign	Het
Catsper3	A	G	13: 55,804,895 (GRCm38)	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101 (GRCm38)	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705 (GRCm38)	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158 (GRCm38)	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848 (GRCm38)	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885 (GRCm38)	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402 (GRCm38)	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809 (GRCm38)	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117 (GRCm38)	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704 (GRCm38)		probably benign	Het
Ehd1	A	G	19: 6,298,324 (GRCm38)	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476 (GRCm38)	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722 (GRCm38)	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549 (GRCm38)	M602K		Het
Fam107a	C	T	14: 8,301,352 (GRCm38)		probably null	Het
Frem3	A	T	8: 80,613,148 (GRCm38)	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955 (GRCm38)	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868 (GRCm38)	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064 (GRCm38)	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943 (GRCm38)	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385 (GRCm38)	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754 (GRCm38)	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683 (GRCm38)	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298 (GRCm38)	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238 (GRCm38)	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529 (GRCm38)	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784 (GRCm38)	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580 (GRCm38)	D475G		Het
Notch2	A	G	3: 98,135,599 (GRCm38)	S1427G	possibly damaging	Het
Odad4	G	T	11: 100,566,926 (GRCm38)	E452*	probably null	Het
Opcml	T	C	9: 28,902,151 (GRCm38)	F246S	probably damaging	Het
Or10al2	C	A	17: 37,672,411 (GRCm38)	Y129*	probably null	Het
Or2ag1b	A	T	7: 106,689,089 (GRCm38)	I214N	probably damaging	Het
Or56a42-ps1	A	G	7: 105,126,686 (GRCm38)	V195A	probably benign	Het
Or6c69	A	G	10: 129,911,862 (GRCm38)	C139R	probably damaging	Het
Or8g33	A	C	9: 39,426,219 (GRCm38)	V284G	possibly damaging	Het
Pdzd2	C	A	15: 12,402,319 (GRCm38)	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768 (GRCm38)	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720 (GRCm38)		probably null	Het
Ptpn18	T	C	1: 34,463,130 (GRCm38)	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197 (GRCm38)	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400 (GRCm38)	E441V	possibly damaging	Het
Repin1	C	T	6: 48,597,433 (GRCm38)	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511 (GRCm38)	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690 (GRCm38)	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094 (GRCm38)	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595 (GRCm38)	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709 (GRCm38)		probably benign	Het
Slc2a2	T	C	3: 28,713,802 (GRCm38)	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456 (GRCm38)	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961 (GRCm38)	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405 (GRCm38)	M1I	probably null	Het
Tril	A	G	6: 53,819,584 (GRCm38)	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598 (GRCm38)	K1749R	probably benign	Het
Ttn	A	G	2: 76,830,651 (GRCm38)	V12011A		Het
Ubr4	T	G	4: 139,410,518 (GRCm38)	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403 (GRCm38)	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881 (GRCm38)		probably benign	Het
Vmn1r28	A	T	6: 58,265,684 (GRCm38)	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899 (GRCm38)	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757 (GRCm38)	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620 (GRCm38)	H158L	probably benign	Het

Other mutations in Ranbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Ranbp2	APN	10	58,477,256 (GRCm38)	missense	probably damaging	1.00
IGL00336:Ranbp2	APN	10	58,451,984 (GRCm38)	missense	probably damaging	1.00
IGL00486:Ranbp2	APN	10	58,477,612 (GRCm38)	missense	probably benign	0.06
IGL00800:Ranbp2	APN	10	58,490,704 (GRCm38)	missense	probably benign
IGL00834:Ranbp2	APN	10	58,453,323 (GRCm38)	missense	possibly damaging	0.94
IGL00852:Ranbp2	APN	10	58,477,901 (GRCm38)	missense	probably benign
IGL00984:Ranbp2	APN	10	58,461,964 (GRCm38)	nonsense	probably null
IGL01299:Ranbp2	APN	10	58,492,817 (GRCm38)	missense	probably damaging	1.00
IGL01325:Ranbp2	APN	10	58,476,298 (GRCm38)	missense	probably damaging	0.99
IGL01444:Ranbp2	APN	10	58,475,300 (GRCm38)	missense	possibly damaging	0.79
IGL01545:Ranbp2	APN	10	58,478,881 (GRCm38)	missense	possibly damaging	0.48
IGL01619:Ranbp2	APN	10	58,464,078 (GRCm38)	splice site	probably null
IGL01782:Ranbp2	APN	10	58,478,309 (GRCm38)	missense	probably damaging	0.97
IGL02020:Ranbp2	APN	10	58,479,947 (GRCm38)	missense	probably damaging	1.00
IGL02096:Ranbp2	APN	10	58,461,967 (GRCm38)	missense	probably damaging	1.00
IGL02182:Ranbp2	APN	10	58,485,760 (GRCm38)	nonsense	probably null
IGL02211:Ranbp2	APN	10	58,478,242 (GRCm38)	missense	probably benign
IGL02249:Ranbp2	APN	10	58,480,078 (GRCm38)	missense	possibly damaging	0.89
IGL02268:Ranbp2	APN	10	58,493,653 (GRCm38)	unclassified	probably benign
IGL02421:Ranbp2	APN	10	58,480,554 (GRCm38)	missense	probably damaging	1.00
IGL03080:Ranbp2	APN	10	58,476,791 (GRCm38)	missense	probably benign	0.01
IGL03119:Ranbp2	APN	10	58,452,003 (GRCm38)	missense	probably damaging	1.00
IGL03206:Ranbp2	APN	10	58,465,547 (GRCm38)	missense	probably damaging	1.00
IGL03237:Ranbp2	APN	10	58,492,961 (GRCm38)	missense	probably damaging	0.98
En_passant	UTSW	10	58,452,017 (GRCm38)	missense	probably damaging	1.00
red_river	UTSW	10	58,465,667 (GRCm38)	missense	probably damaging	1.00
IGL02799:Ranbp2	UTSW	10	58,480,264 (GRCm38)	missense	probably damaging	1.00
R0058:Ranbp2	UTSW	10	58,480,531 (GRCm38)	missense	probably damaging	0.98
R0058:Ranbp2	UTSW	10	58,480,531 (GRCm38)	missense	probably damaging	0.98
R0145:Ranbp2	UTSW	10	58,480,046 (GRCm38)	missense	probably damaging	1.00
R0309:Ranbp2	UTSW	10	58,479,868 (GRCm38)	missense	probably benign	0.04
R0375:Ranbp2	UTSW	10	58,477,283 (GRCm38)	missense	probably damaging	1.00
R0441:Ranbp2	UTSW	10	58,485,768 (GRCm38)	missense	probably benign	0.40
R0494:Ranbp2	UTSW	10	58,467,432 (GRCm38)	missense	possibly damaging	0.53
R0542:Ranbp2	UTSW	10	58,478,414 (GRCm38)	missense	probably benign	0.02
R0565:Ranbp2	UTSW	10	58,476,336 (GRCm38)	missense	probably benign	0.41
R0608:Ranbp2	UTSW	10	58,493,898 (GRCm38)	missense	probably damaging	1.00
R0661:Ranbp2	UTSW	10	58,478,733 (GRCm38)	missense	probably benign
R0670:Ranbp2	UTSW	10	58,480,698 (GRCm38)	missense	probably benign	0.01
R0760:Ranbp2	UTSW	10	58,476,791 (GRCm38)	missense	possibly damaging	0.70
R0811:Ranbp2	UTSW	10	58,465,529 (GRCm38)	missense	probably benign	0.01
R0812:Ranbp2	UTSW	10	58,465,529 (GRCm38)	missense	probably benign	0.01
R1180:Ranbp2	UTSW	10	58,465,463 (GRCm38)	missense	probably damaging	1.00
R1196:Ranbp2	UTSW	10	58,477,053 (GRCm38)	missense	probably damaging	1.00
R1216:Ranbp2	UTSW	10	58,483,212 (GRCm38)	splice site	probably benign
R1374:Ranbp2	UTSW	10	58,485,893 (GRCm38)	splice site	probably benign
R1541:Ranbp2	UTSW	10	58,483,094 (GRCm38)	missense	possibly damaging	0.90
R1589:Ranbp2	UTSW	10	58,463,986 (GRCm38)	missense	probably benign	0.01
R1711:Ranbp2	UTSW	10	58,460,519 (GRCm38)	missense	probably benign	0.11
R1761:Ranbp2	UTSW	10	58,485,741 (GRCm38)	missense	probably benign	0.02
R1831:Ranbp2	UTSW	10	58,479,222 (GRCm38)	nonsense	probably null
R1840:Ranbp2	UTSW	10	58,478,766 (GRCm38)	missense	probably benign	0.41
R1869:Ranbp2	UTSW	10	58,492,561 (GRCm38)	missense	probably damaging	1.00
R1871:Ranbp2	UTSW	10	58,492,561 (GRCm38)	missense	probably damaging	1.00
R1892:Ranbp2	UTSW	10	58,464,099 (GRCm38)	missense	probably benign	0.36
R2270:Ranbp2	UTSW	10	58,455,927 (GRCm38)	missense	probably benign	0.06
R2363:Ranbp2	UTSW	10	58,478,936 (GRCm38)	missense	possibly damaging	0.79
R3844:Ranbp2	UTSW	10	58,477,895 (GRCm38)	missense	possibly damaging	0.87
R3937:Ranbp2	UTSW	10	58,476,472 (GRCm38)	missense	probably benign	0.00
R3938:Ranbp2	UTSW	10	58,476,472 (GRCm38)	missense	probably benign	0.00
R4025:Ranbp2	UTSW	10	58,480,556 (GRCm38)	missense	probably benign	0.23
R4183:Ranbp2	UTSW	10	58,465,666 (GRCm38)	missense	possibly damaging	0.53
R4247:Ranbp2	UTSW	10	58,478,864 (GRCm38)	missense	possibly damaging	0.79
R4334:Ranbp2	UTSW	10	58,463,994 (GRCm38)	missense	probably damaging	1.00
R4656:Ranbp2	UTSW	10	58,453,422 (GRCm38)	missense	possibly damaging	0.82
R4746:Ranbp2	UTSW	10	58,492,670 (GRCm38)	missense	probably damaging	1.00
R4852:Ranbp2	UTSW	10	58,477,056 (GRCm38)	missense	possibly damaging	0.94
R4863:Ranbp2	UTSW	10	58,492,421 (GRCm38)	missense	probably damaging	0.99
R5011:Ranbp2	UTSW	10	58,461,895 (GRCm38)	missense	probably benign	0.36
R5014:Ranbp2	UTSW	10	58,464,120 (GRCm38)	missense	probably benign	0.40
R5145:Ranbp2	UTSW	10	58,480,038 (GRCm38)	missense	probably damaging	1.00
R5178:Ranbp2	UTSW	10	58,476,785 (GRCm38)	missense	probably benign	0.01
R5199:Ranbp2	UTSW	10	58,464,443 (GRCm38)	missense	probably benign
R5294:Ranbp2	UTSW	10	58,478,668 (GRCm38)	missense	probably benign	0.23
R5508:Ranbp2	UTSW	10	58,480,005 (GRCm38)	missense	probably damaging	0.97
R5511:Ranbp2	UTSW	10	58,493,739 (GRCm38)	missense	probably benign	0.29
R5575:Ranbp2	UTSW	10	58,492,583 (GRCm38)	missense	probably damaging	1.00
R5617:Ranbp2	UTSW	10	58,465,667 (GRCm38)	missense	probably damaging	1.00
R5630:Ranbp2	UTSW	10	58,479,076 (GRCm38)	missense	probably damaging	1.00
R5733:Ranbp2	UTSW	10	58,485,836 (GRCm38)	missense	probably damaging	1.00
R5751:Ranbp2	UTSW	10	58,464,264 (GRCm38)	splice site	probably null
R5767:Ranbp2	UTSW	10	58,476,825 (GRCm38)	missense	probably benign	0.02
R6122:Ranbp2	UTSW	10	58,465,529 (GRCm38)	missense	probably benign	0.02
R6147:Ranbp2	UTSW	10	58,479,428 (GRCm38)	missense	probably damaging	1.00
R6286:Ranbp2	UTSW	10	58,479,572 (GRCm38)	missense	probably benign	0.02
R6344:Ranbp2	UTSW	10	58,483,886 (GRCm38)	splice site	probably null
R6452:Ranbp2	UTSW	10	58,478,157 (GRCm38)	missense	probably benign	0.00
R6487:Ranbp2	UTSW	10	58,485,741 (GRCm38)	missense	probably benign	0.02
R6620:Ranbp2	UTSW	10	58,455,807 (GRCm38)	critical splice acceptor site	probably null
R6759:Ranbp2	UTSW	10	58,457,737 (GRCm38)	nonsense	probably null
R7010:Ranbp2	UTSW	10	58,454,571 (GRCm38)	critical splice acceptor site	probably null
R7071:Ranbp2	UTSW	10	58,492,837 (GRCm38)	missense	probably damaging	1.00
R7083:Ranbp2	UTSW	10	58,479,230 (GRCm38)	missense	probably damaging	1.00
R7088:Ranbp2	UTSW	10	58,463,906 (GRCm38)	missense	probably damaging	1.00
R7102:Ranbp2	UTSW	10	58,463,950 (GRCm38)	missense	probably damaging	1.00
R7194:Ranbp2	UTSW	10	58,476,769 (GRCm38)	missense	probably benign	0.05
R7217:Ranbp2	UTSW	10	58,452,017 (GRCm38)	missense	probably damaging	1.00
R7318:Ranbp2	UTSW	10	58,483,087 (GRCm38)	nonsense	probably null
R7341:Ranbp2	UTSW	10	58,485,797 (GRCm38)	missense	possibly damaging	0.72
R7398:Ranbp2	UTSW	10	58,467,277 (GRCm38)	missense	probably damaging	1.00
R7424:Ranbp2	UTSW	10	58,479,194 (GRCm38)	missense	probably damaging	0.98
R7727:Ranbp2	UTSW	10	58,455,438 (GRCm38)	missense	probably benign	0.09
R7795:Ranbp2	UTSW	10	58,483,907 (GRCm38)	nonsense	probably null
R7812:Ranbp2	UTSW	10	58,467,402 (GRCm38)	missense	probably benign
R7845:Ranbp2	UTSW	10	58,447,022 (GRCm38)	missense	probably damaging	1.00
R7875:Ranbp2	UTSW	10	58,478,455 (GRCm38)	nonsense	probably null
R7934:Ranbp2	UTSW	10	58,476,475 (GRCm38)	missense	probably damaging	0.98
R8022:Ranbp2	UTSW	10	58,485,861 (GRCm38)	missense	possibly damaging	0.53
R8050:Ranbp2	UTSW	10	58,479,619 (GRCm38)	missense	probably damaging	0.99
R8100:Ranbp2	UTSW	10	58,490,648 (GRCm38)	missense	possibly damaging	0.58
R8194:Ranbp2	UTSW	10	58,455,925 (GRCm38)	missense	possibly damaging	0.84
R8258:Ranbp2	UTSW	10	58,455,933 (GRCm38)	missense	probably benign	0.04
R8259:Ranbp2	UTSW	10	58,455,933 (GRCm38)	missense	probably benign	0.04
R8461:Ranbp2	UTSW	10	58,476,394 (GRCm38)	missense	probably damaging	0.97
R8722:Ranbp2	UTSW	10	58,476,227 (GRCm38)	missense	probably damaging	1.00
R8755:Ranbp2	UTSW	10	58,465,147 (GRCm38)	nonsense	probably null
R8794:Ranbp2	UTSW	10	58,492,592 (GRCm38)	missense	probably damaging	1.00
R8994:Ranbp2	UTSW	10	58,480,069 (GRCm38)	missense	possibly damaging	0.89
R9023:Ranbp2	UTSW	10	58,479,521 (GRCm38)	nonsense	probably null
R9124:Ranbp2	UTSW	10	58,492,897 (GRCm38)	missense	probably benign	0.01
R9133:Ranbp2	UTSW	10	58,477,228 (GRCm38)	missense	probably damaging	1.00
R9145:Ranbp2	UTSW	10	58,455,914 (GRCm38)	missense	probably benign	0.03
R9190:Ranbp2	UTSW	10	58,477,295 (GRCm38)	missense	probably damaging	1.00
R9369:Ranbp2	UTSW	10	58,480,664 (GRCm38)	missense	probably benign	0.04
R9394:Ranbp2	UTSW	10	58,455,876 (GRCm38)	missense	probably damaging	0.97
R9642:Ranbp2	UTSW	10	58,483,085 (GRCm38)	missense	probably damaging	0.99
R9673:Ranbp2	UTSW	10	58,465,141 (GRCm38)	missense	probably damaging	1.00
X0018:Ranbp2	UTSW	10	58,478,584 (GRCm38)	missense	probably benign	0.13
X0022:Ranbp2	UTSW	10	58,465,155 (GRCm38)	missense	probably benign	0.33
Z1088:Ranbp2	UTSW	10	58,492,893 (GRCm38)	missense	probably benign	0.35
Z1088:Ranbp2	UTSW	10	58,477,983 (GRCm38)	frame shift	probably null
Z1088:Ranbp2	UTSW	10	58,477,972 (GRCm38)	frame shift	probably null
Z1176:Ranbp2	UTSW	10	58,461,886 (GRCm38)	missense	probably damaging	1.00
Z1177:Ranbp2	UTSW	10	58,493,891 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGCCTGGAAAATGCTCAAG -3'
(R):5'- GGTGCAGTAGATAAACTTGGTG -3'

Sequencing Primer
(F):5'- GATCGATTTGCAACAATGACTGC -3'
(R):5'- TGCAGTAGATAAACTTGGTGTAACAG -3'

Posted On

2021-07-15