Mutagenetix > Incidental Mutation

Incidental Mutation 'R0906:Nup205'

83321

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

039064-MU

Accession Numbers

NCBI RefSeq: NM_027513.1; MGI:2141625

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35236892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 1740 (G1740C)

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: G1687C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: G1687C

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: G1740C

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

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: G1740C

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: ENSMUST00000201842

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.3%

Validation Efficiency

100% (33/33)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	T	A	1: 130,737,693 (GRCm38)		probably benign	Het
Atp7b	T	C	8: 22,027,826 (GRCm38)	H332R	probably benign	Het
Bace2	C	T	16: 97,356,941 (GRCm38)	P47L	possibly damaging	Het
Cyp2c39	A	G	19: 39,510,871 (GRCm38)	M1V	probably null	Het
Dcbld2	A	G	16: 58,455,247 (GRCm38)	E442G	probably damaging	Het
Gm14496	A	G	2: 182,000,515 (GRCm38)	T660A	probably damaging	Het
Gm4945	A	C	17: 47,042,870 (GRCm38)		noncoding transcript	Het
Gm5065	T	C	7: 5,359,829 (GRCm38)	I153T	probably damaging	Het
Gm6729	T	C	10: 86,540,592 (GRCm38)		noncoding transcript	Het
Golga1	G	A	2: 39,047,643 (GRCm38)	R204W	probably damaging	Het
Guf1	T	C	5: 69,566,386 (GRCm38)	I348T	probably damaging	Het
Htra4	T	A	8: 25,037,144 (GRCm38)	I212L	probably benign	Het
Itih5	G	A	2: 10,249,188 (GRCm38)	R750Q	probably benign	Het
Lgr6	C	T	1: 134,994,010 (GRCm38)	A199T	probably damaging	Het
Naip2	T	C	13: 100,161,854 (GRCm38)	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860 (GRCm38)	G556D	probably benign	Het
Nsd1	T	C	13: 55,277,590 (GRCm38)	V1520A	probably benign	Het
Nuak1	C	T	10: 84,375,280 (GRCm38)	V315I	probably damaging	Het
Olfr398	G	C	11: 73,983,859 (GRCm38)	L250V	probably damaging	Het
Pclo	T	C	5: 14,676,686 (GRCm38)		probably benign	Het
Pik3r6	T	C	11: 68,536,101 (GRCm38)		probably benign	Het
Pikfyve	T	A	1: 65,253,397 (GRCm38)	F1336I	probably damaging	Het
Pla2r1	A	G	2: 60,514,947 (GRCm38)	I355T	possibly damaging	Het
Rgs22	A	T	15: 36,103,902 (GRCm38)		probably benign	Het
Sec63	T	A	10: 42,801,928 (GRCm38)	M312K	probably damaging	Het
Slc2a5	T	C	4: 150,142,830 (GRCm38)	I401T	probably benign	Het
Slc9a8	G	T	2: 167,434,867 (GRCm38)		probably benign	Het
Stab1	T	C	14: 31,145,249 (GRCm38)	E1718G	probably benign	Het
Terb1	A	T	8: 104,452,636 (GRCm38)	I640N	probably damaging	Het
Tmem217	A	G	17: 29,526,516 (GRCm38)	L80P	probably damaging	Het
Topbp1	C	T	9: 103,328,593 (GRCm38)	P810L	probably benign	Het
Ttbk2	G	A	2: 120,783,781 (GRCm38)	R151C	probably damaging	Het
Vmn2r88	T	G	14: 51,418,209 (GRCm38)	L626R	probably 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
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
R4787:Nup205	UTSW	6	35,202,061 (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'- AATTTGGCTCTGTCCTGACATGGG -3'
(R):5'- TCATGCAGCATTCTGCTGAGGC -3'

Sequencing Primer
(F):5'- CTGTCCTGACATGGGGTTACAC -3'
(R):5'- GTTTGAGACGGCGGAAATTATTACC -3'

Posted On

2013-11-08