Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Ranbp2'

49990

Institutional Source

Beutler Lab

Gene Symbol

Ranbp2

Ensembl Gene

ENSMUSG00000003226

Gene Name

RAN binding protein 2

Synonyms

A430087B05Rik

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0542 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

58282674-58329977 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58314236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1652 (A1652V)

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: A1652V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000003310
Gene: ENSMUSG00000003226
AA Change: A1652V

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

0.0636

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tada3	T	C	6: 113,352,175 (GRCm39)	K85E	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	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
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'- ATCAGCTCCTGCCTCTTCAGAGAC -3'
(R):5'- CTGCAAAGGTAAAGGTGCTGCTTG -3'

Sequencing Primer
(F):5'- TCTTCAGAGACAAGCAGGTC -3'
(R):5'- CTGACCACTAGTATCATGAGCTTGG -3'

Posted On

2013-06-12