Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Nup205'

711337

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

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35177421-35247596 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35199974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 635 (R635H)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043815
AA Change: R582H

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: R582H

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: R635H

PolyPhen 2 Score 0.451 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: R635H

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: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Fbn2	T	C	18: 58,066,107 (GRCm38)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177 (GRCm38)	V284A		Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830 (GRCm38)	E1092D	probably benign	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042 (GRCm38)	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997 (GRCm38)	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	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
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
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'- TCTCAGATGGTAGGCAGGGTTC -3'
(R):5'- CATAAGTACAAATGCTATGCGTGTG -3'

Sequencing Primer
(F):5'- TCTACCTTTGAGCCCTAAATAGGCAG -3'
(R):5'- TGCTATGCGTGTGCTAAATATATC -3'

Posted On

2022-05-16