Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Nup205'

702238

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_027513.1; MGI:2141625

Is this an essential gene?

Probably essential (E-score: 0.959) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35199857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 596 (E596G)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

probably benign
Transcript: ENSMUST00000043815
AA Change: E543G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: E543G

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 benign
Transcript: ENSMUST00000201374
AA Change: E596G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: E596G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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
1810046K07Rik	T	A	9: 51,291,698	H52L	probably benign	Het
Adamts7	A	G	9: 90,193,344	E1043G	probably benign	Het
Ahnak	A	G	19: 9,016,139	E4929G	possibly damaging	Het
Clca3a2	G	T	3: 144,819,397	H25N	probably benign	Het
Cubn	C	T	2: 13,278,451	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,620,920	W15R	probably benign	Het
Dzank1	T	C	2: 144,513,424	E117G	probably benign	Het
Eml2	A	G	7: 19,179,818	T187A	probably benign	Het
Eml5	A	G	12: 98,856,028	V747A	probably damaging	Het
Esr1	T	A	10: 4,969,271	S454T	probably damaging	Het
Evc2	A	G	5: 37,380,551	T528A	probably benign	Het
Fbxo5	T	C	10: 5,802,325	N96S	probably damaging	Het
Fcnb	T	C	2: 28,079,624	T144A	probably damaging	Het
Gfm2	T	A	13: 97,162,861	Y363*	probably null	Het
Gm28710	T	C	5: 16,801,549	L88P	possibly damaging	Het
Grwd1	C	T	7: 45,825,957	R387Q	probably benign	Het
Gstt2	C	T	10: 75,833,677	D59N	possibly damaging	Het
Herc1	A	G	9: 66,504,847	N4783S	probably damaging	Het
Hydin	C	A	8: 110,267,415	A27E	unknown	Het
Ikbip	A	G	10: 91,096,387	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,722,974	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,149,424	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,593,421		probably benign	Het
Klhl40	A	G	9: 121,779,936	D389G	probably benign	Het
Ly6g	A	G	15: 75,158,680	T116A	probably damaging	Het
Mast2	A	G	4: 116,308,703	L1276P	probably damaging	Het
Mitf	A	G	6: 98,013,743	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,306,643	Y192*	probably null	Het
Nav1	T	A	1: 135,460,357	E1109D	unknown	Het
Nav2	A	G	7: 49,597,156	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,677,374	Q119R	possibly damaging	Het
Nek9	A	G	12: 85,313,067	V537A	probably damaging	Het
Notum	G	T	11: 120,660,148	T64K	probably damaging	Het
Nudcd2	A	G	11: 40,739,199	N144S	probably damaging	Het
Olfml1	T	A	7: 107,567,800	L12Q	possibly damaging	Het
Olfr1313	T	A	2: 112,072,373	D70V	probably damaging	Het
Olfr524	A	G	7: 140,202,650	V40A	probably benign	Het
Olfr639	C	T	7: 104,012,129	C191Y	probably damaging	Het
Olfr661	T	A	7: 104,688,053	F13I	probably benign	Het
Olfr668	A	T	7: 104,925,098	M222K	probably benign	Het
Ovgp1	T	C	3: 105,986,567		probably benign	Het
Padi4	T	C	4: 140,752,615	N409S	probably damaging	Het
Pam	T	A	1: 97,975,895	T38S	probably benign	Het
Piezo2	T	C	18: 63,075,797	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,890,431	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,189,429	H180L	probably benign	Het
Pprc1	A	G	19: 46,062,429	T169A	unknown	Het
Prrc2c	A	G	1: 162,678,053	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,832,130	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,336,559	D40G	probably damaging	Het
Rbm19	T	C	5: 120,118,745	F41S	probably damaging	Het
Rbsn	T	C	6: 92,189,816	M616V	probably benign	Het
Ryr1	A	T	7: 29,052,388	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,950,098	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,199,709	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,036,866	S741T	probably damaging	Het
Stk19	T	G	17: 34,832,456	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,192,406	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,737,131	C271S	probably benign	Het
Tmem161a	C	A	8: 70,178,922	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,714,279	V80E	probably damaging	Het
Trpa1	G	A	1: 14,893,241	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,908,230	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,540,811	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,394,107	E45D	probably benign	Het
Vnn3	A	G	10: 23,865,709	E304G	probably damaging	Het
Zfp541	G	A	7: 16,082,104	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,217,523	K814E	probably benign	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35214802	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35208936	splice site	probably benign
IGL01138:Nup205	APN	6	35208084	nonsense	probably null
IGL01333:Nup205	APN	6	35241063	missense	probably benign
IGL01399:Nup205	APN	6	35219689	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35199959	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35227430	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35189178	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35190068	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35227576	splice site	probably null
IGL02558:Nup205	APN	6	35189924	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35208169	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35232414	missense	probably damaging	0.99
Figaro	UTSW	6	35196714	splice site	probably null
Marcellina	UTSW	6	35183969	missense	probably damaging	1.00
Spirit	UTSW	6	35232408	missense	probably damaging	0.98
Susanna	UTSW	6	35208109	missense	possibly damaging	0.94
voyager	UTSW	6	35189885	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35196543	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35225780	splice site	probably benign
R0102:Nup205	UTSW	6	35225780	splice site	probably benign
R0362:Nup205	UTSW	6	35196714	splice site	probably null
R0374:Nup205	UTSW	6	35208837	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35214634	splice site	probably benign
R0427:Nup205	UTSW	6	35194463	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35198969	missense	probably benign
R0611:Nup205	UTSW	6	35225968	missense	probably null	1.00
R0761:Nup205	UTSW	6	35196428	splice site	probably benign
R0828:Nup205	UTSW	6	35194566	missense	probably benign
R0906:Nup205	UTSW	6	35236892	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35234706	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35227442	missense	probably benign
R1375:Nup205	UTSW	6	35200071	splice site	probably benign
R1447:Nup205	UTSW	6	35215185	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35225982	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35225982	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35191943	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35238966	missense	probably benign
R1659:Nup205	UTSW	6	35234788	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35210971	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35205431	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35219714	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35233366	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35230516	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35241349	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35208134	nonsense	probably null
R3697:Nup205	UTSW	6	35188711	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35219742	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35192040	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35241012	nonsense	probably null
R4364:Nup205	UTSW	6	35192027	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35192027	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35196489	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35202008	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35202061	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35230570	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35230530	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35224639	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35243849	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35225866	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35196482	splice site	probably null
R5444:Nup205	UTSW	6	35189189	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35247343	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35227680	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35230548	missense	probably damaging	0.96
R5941:Nup205	UTSW	6	35232408	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35177578	unclassified	probably benign
R6003:Nup205	UTSW	6	35212816	missense	probably benign
R6178:Nup205	UTSW	6	35243843	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35236869	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35189885	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35247373	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35208109	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35243936	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35224535	missense	possibly damaging	0.49
R7052:Nup205	UTSW	6	35215142	missense	possibly damaging	0.81
R7310:Nup205	UTSW	6	35225969	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35232573	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35214676	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35227559	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35201999	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35177620	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35247437	missense	unknown
R7930:Nup205	UTSW	6	35194576	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35245339	missense	probably benign
R7976:Nup205	UTSW	6	35198953	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35202169	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35227376	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35230516	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35225203	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35227503	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35225247	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35183969	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35214334	missense	probably damaging	1.00
R9403:Nup205	UTSW	6	35199974	missense	probably benign	0.45
Z1177:Nup205	UTSW	6	35177605	missense	unknown
Z1177:Nup205	UTSW	6	35208793	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TATCCACCGTGACAGGTTGGAG -3'
(R):5'- AAGCAATCAGTCCATCTTGCTC -3'

Sequencing Primer
(F):5'- CACTGCTCATTTAGAACAGATTGAC -3'
(R):5'- TCCTTCTGGGTGATGCCACG -3'

Posted On

2022-03-25