Mutagenetix > Incidental Mutation

Incidental Mutation 'R4787:Nup205'

367170

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

041975-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R4787 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35202061 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 689 (C689S)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043815] [ENSMUST00000170234] [ENSMUST00000201374]

AlphaFold

A0A0J9YUD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043815
AA Change: C636S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: C636S

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Nup192	14	1684	N/A	PFAM
low complexity region	1995	2005	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170234

SMART Domains

Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759

Domain	Start	End	E-Value	Type
Pfam:DUF3414	13	322	9.7e-98	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201374
AA Change: C689S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: C689S

Domain	Start	End	E-Value	Type
low complexity region	36	50	N/A	INTRINSIC
Pfam:Nup192	67	1737	N/A	PFAM
low complexity region	2048	2058	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201609

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202898

Meta Mutation Damage Score

0.8943

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

100% (72/72)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]

Allele List at MGI

All alleles(32) : Targeted(2) Gene trapped(30)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	A	8: 72,445,164 (GRCm38)	Y138*	probably null	Het
4933440M02Rik	T	C	7: 125,331,542 (GRCm38)		noncoding transcript	Het
Amy2b	T	C	3: 113,151,318 (GRCm38)		noncoding transcript	Het
Anxa1	T	A	19: 20,373,754 (GRCm38)	D334V	probably damaging	Het
Atoh8	T	C	6: 72,223,777 (GRCm38)	T310A	possibly damaging	Het
BC002059	G	A	17: 16,973,548 (GRCm38)		noncoding transcript	Het
C87499	T	A	4: 88,629,213 (GRCm38)	K74*	probably null	Het
Ccdc40	A	G	11: 119,253,621 (GRCm38)	D924G	possibly damaging	Het
Ccm2l	A	T	2: 153,079,502 (GRCm38)	M433L	probably benign	Het
Cd209e	T	C	8: 3,851,181 (GRCm38)	S158G	probably null	Het
Cdkn2a	C	T	4: 89,276,718 (GRCm38)	R153H	unknown	Het
Cfap69	A	G	5: 5,646,934 (GRCm38)		probably null	Het
Col6a5	T	C	9: 105,931,081 (GRCm38)	T923A	unknown	Het
Cybb	C	G	X: 9,450,750 (GRCm38)	D246H	probably benign	Het
Ddrgk1	A	G	2: 130,658,328 (GRCm38)	F216S	probably damaging	Het
Dysf	T	A	6: 84,203,328 (GRCm38)	C1995*	probably null	Het
Epb41l5	G	A	1: 119,595,995 (GRCm38)	P467S	probably benign	Het
Extl1	G	A	4: 134,364,667 (GRCm38)	L292F	probably damaging	Het
Fsd1	A	G	17: 55,996,257 (GRCm38)	N409D	possibly damaging	Het
Gm15455	A	T	1: 33,837,722 (GRCm38)		noncoding transcript	Het
Gm5514	C	A	19: 21,938,237 (GRCm38)		noncoding transcript	Het
Gm8894	A	G	14: 55,420,715 (GRCm38)		noncoding transcript	Het
Gm8979	T	C	7: 106,081,834 (GRCm38)		noncoding transcript	Het
Gtf3c2	C	T	5: 31,157,577 (GRCm38)	S942N	probably benign	Het
H2-Ab1	A	T	17: 34,267,467 (GRCm38)	T167S	possibly damaging	Het
Ighv8-9	C	T	12: 115,468,514 (GRCm38)	R59H	probably damaging	Het
Igsf9b	G	A	9: 27,317,456 (GRCm38)	V171I	probably benign	Het
Il31ra	C	T	13: 112,527,545 (GRCm38)	E533K	possibly damaging	Het
Iqgap1	A	C	7: 80,735,513 (GRCm38)	L1022R	probably damaging	Het
Kcna4	T	C	2: 107,296,468 (GRCm38)	F516L	probably damaging	Het
Kmt2e	A	G	5: 23,463,083 (GRCm38)	T47A	possibly damaging	Het
L3mbtl2	A	G	15: 81,663,974 (GRCm38)		probably benign	Het
Lipo1	T	A	19: 33,780,349 (GRCm38)	Q240L	probably benign	Het
Lpar5	A	G	6: 125,082,498 (GRCm38)		probably null	Het
Lrrk2	A	G	15: 91,712,828 (GRCm38)	D541G	probably benign	Het
Med9	T	A	11: 59,948,440 (GRCm38)	N58K	probably benign	Het
Meig1	A	G	2: 3,409,214 (GRCm38)	V83A	possibly damaging	Het
Natd1	A	C	11: 60,906,996 (GRCm38)	C34W	probably damaging	Het
Olfr1161	T	C	2: 88,024,860 (GRCm38)	M46T	possibly damaging	Het
Olfr1199	T	A	2: 88,755,875 (GRCm38)	K267*	probably null	Het
Olfr2	G	A	7: 107,001,086 (GRCm38)	A258V	probably benign	Het
Olfr654	T	C	7: 104,587,960 (GRCm38)	M52T	probably benign	Het
Pdgfrb	A	C	18: 61,079,687 (GRCm38)	S888R	probably damaging	Het
Plppr4	T	C	3: 117,322,330 (GRCm38)	E626G	probably damaging	Het
Ppfia3	C	A	7: 45,340,626 (GRCm38)	A1159S	possibly damaging	Het
Prex1	A	G	2: 166,638,340 (GRCm38)	V160A	probably benign	Het
Psmb7	C	T	2: 38,588,271 (GRCm38)	C247Y	probably benign	Het
Rbm33	C	T	5: 28,342,437 (GRCm38)		probably null	Het
Rfc5	T	C	5: 117,382,420 (GRCm38)	T236A	probably benign	Het
Sdk1	G	T	5: 141,582,413 (GRCm38)	R122L	probably benign	Het
Sh3bp1	T	C	15: 78,907,995 (GRCm38)	S451P	possibly damaging	Het
Smap1	G	T	1: 23,849,266 (GRCm38)		probably benign	Het
Smc2	T	A	4: 52,462,927 (GRCm38)	V639E	probably damaging	Het
Synpo2l	T	A	14: 20,661,697 (GRCm38)	Q511L	possibly damaging	Het
Taok2	G	A	7: 126,868,132 (GRCm38)	S167L	possibly damaging	Het
Tbc1d17	G	A	7: 44,843,064 (GRCm38)	P392S	probably benign	Het
Tef	T	A	15: 81,823,557 (GRCm38)	I261N	probably damaging	Het
Tmbim1	T	C	1: 74,295,360 (GRCm38)	N14D	possibly damaging	Het
Tmprss11c	T	C	5: 86,256,453 (GRCm38)	K121R	probably benign	Het
Trim36	C	A	18: 46,172,532 (GRCm38)	M461I	probably benign	Het
Trpc1	T	A	9: 95,721,415 (GRCm38)	M355L	probably benign	Het
Tspyl4	A	C	10: 34,297,764 (GRCm38)	D84A	probably benign	Het
Twf1	G	T	15: 94,584,434 (GRCm38)	P144T	probably damaging	Het
Ugt1a7c	T	C	1: 88,095,670 (GRCm38)	C184R	probably damaging	Het
Unc79	C	T	12: 103,046,998 (GRCm38)	P283S	probably damaging	Het
Usp45	T	C	4: 21,796,860 (GRCm38)	C49R	probably benign	Het
Wdr11	T	A	7: 129,608,934 (GRCm38)		probably benign	Het
Wdr27	A	T	17: 14,932,554 (GRCm38)	M97K	possibly damaging	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35,214,802 (GRCm38)	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35,208,936 (GRCm38)	splice site	probably benign
IGL01138:Nup205	APN	6	35,208,084 (GRCm38)	nonsense	probably null
IGL01333:Nup205	APN	6	35,241,063 (GRCm38)	missense	probably benign
IGL01399:Nup205	APN	6	35,219,689 (GRCm38)	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35,199,959 (GRCm38)	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35,227,430 (GRCm38)	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35,189,178 (GRCm38)	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35,190,068 (GRCm38)	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35,227,576 (GRCm38)	splice site	probably null
IGL02558:Nup205	APN	6	35,189,924 (GRCm38)	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35,208,169 (GRCm38)	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35,232,414 (GRCm38)	missense	probably damaging	0.99
Figaro	UTSW	6	35,196,714 (GRCm38)	splice site	probably null
Marcellina	UTSW	6	35,183,969 (GRCm38)	missense	probably damaging	1.00
Spirit	UTSW	6	35,232,408 (GRCm38)	missense	probably damaging	0.98
Susanna	UTSW	6	35,208,109 (GRCm38)	missense	possibly damaging	0.94
voyager	UTSW	6	35,189,885 (GRCm38)	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35,196,543 (GRCm38)	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35,225,780 (GRCm38)	splice site	probably benign
R0102:Nup205	UTSW	6	35,225,780 (GRCm38)	splice site	probably benign
R0362:Nup205	UTSW	6	35,196,714 (GRCm38)	splice site	probably null
R0374:Nup205	UTSW	6	35,208,837 (GRCm38)	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35,214,634 (GRCm38)	splice site	probably benign
R0427:Nup205	UTSW	6	35,194,463 (GRCm38)	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35,198,969 (GRCm38)	missense	probably benign
R0611:Nup205	UTSW	6	35,225,968 (GRCm38)	missense	probably null	1.00
R0761:Nup205	UTSW	6	35,196,428 (GRCm38)	splice site	probably benign
R0828:Nup205	UTSW	6	35,194,566 (GRCm38)	missense	probably benign
R0906:Nup205	UTSW	6	35,236,892 (GRCm38)	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35,234,706 (GRCm38)	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35,227,442 (GRCm38)	missense	probably benign
R1375:Nup205	UTSW	6	35,200,071 (GRCm38)	splice site	probably benign
R1447:Nup205	UTSW	6	35,215,185 (GRCm38)	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35,225,982 (GRCm38)	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35,225,982 (GRCm38)	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35,191,943 (GRCm38)	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35,238,966 (GRCm38)	missense	probably benign
R1659:Nup205	UTSW	6	35,234,788 (GRCm38)	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35,210,971 (GRCm38)	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35,205,431 (GRCm38)	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35,219,714 (GRCm38)	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35,233,366 (GRCm38)	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35,230,516 (GRCm38)	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35,241,349 (GRCm38)	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35,208,134 (GRCm38)	nonsense	probably null
R3697:Nup205	UTSW	6	35,188,711 (GRCm38)	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35,219,742 (GRCm38)	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35,192,040 (GRCm38)	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35,241,012 (GRCm38)	nonsense	probably null
R4364:Nup205	UTSW	6	35,192,027 (GRCm38)	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35,192,027 (GRCm38)	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35,196,489 (GRCm38)	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35,202,008 (GRCm38)	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35,230,570 (GRCm38)	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35,230,530 (GRCm38)	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35,224,639 (GRCm38)	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35,243,849 (GRCm38)	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35,225,866 (GRCm38)	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35,196,482 (GRCm38)	splice site	probably null
R5444:Nup205	UTSW	6	35,189,189 (GRCm38)	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35,247,343 (GRCm38)	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35,230,548 (GRCm38)	missense	probably damaging	0.96
R5762:Nup205	UTSW	6	35,227,680 (GRCm38)	missense	probably damaging	1.00
R5941:Nup205	UTSW	6	35,232,408 (GRCm38)	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35,177,578 (GRCm38)	unclassified	probably benign
R6003:Nup205	UTSW	6	35,212,816 (GRCm38)	missense	probably benign
R6178:Nup205	UTSW	6	35,243,843 (GRCm38)	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35,236,869 (GRCm38)	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35,189,885 (GRCm38)	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35,247,373 (GRCm38)	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35,208,109 (GRCm38)	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35,243,936 (GRCm38)	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35,224,535 (GRCm38)	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35,215,142 (GRCm38)	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35,225,969 (GRCm38)	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35,232,573 (GRCm38)	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35,214,676 (GRCm38)	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35,227,559 (GRCm38)	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35,201,999 (GRCm38)	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35,177,620 (GRCm38)	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35,247,437 (GRCm38)	missense	unknown
R7930:Nup205	UTSW	6	35,194,576 (GRCm38)	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35,245,339 (GRCm38)	missense	probably benign
R7976:Nup205	UTSW	6	35,198,953 (GRCm38)	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35,202,169 (GRCm38)	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35,227,376 (GRCm38)	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35,230,516 (GRCm38)	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35,225,203 (GRCm38)	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35,227,503 (GRCm38)	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35,225,247 (GRCm38)	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35,183,969 (GRCm38)	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35,214,334 (GRCm38)	missense	probably damaging	1.00
R9061:Nup205	UTSW	6	35,219,873 (GRCm38)	intron	probably benign
R9261:Nup205	UTSW	6	35,199,857 (GRCm38)	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35,199,974 (GRCm38)	missense	probably benign	0.45
R9648:Nup205	UTSW	6	35,225,811 (GRCm38)	missense	probably benign	0.00
R9744:Nup205	UTSW	6	35,232,575 (GRCm38)	missense	probably damaging	0.99
R9800:Nup205	UTSW	6	35,186,533 (GRCm38)	missense	possibly damaging	0.85
Z1177:Nup205	UTSW	6	35,208,793 (GRCm38)	critical splice acceptor site	probably null
Z1177:Nup205	UTSW	6	35,177,605 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACAGATACCTTCTTTGTTGTGG -3'
(R):5'- CCACCAGGAGCTCTTGTTTC -3'

Sequencing Primer
(F):5'- GTAGTGGGTGCCCCTATTCAC -3'
(R):5'- ACCAGGAGCTCTTGTTTCTATAG -3'

Posted On

2015-12-29