Mutagenetix > Incidental Mutation

Incidental Mutation 'R7052:Nup205'

547652

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

045149-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35192077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1047 (R1047G)

Ref Sequence

ENSEMBL: ENSMUSP00000039656 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043815
AA Change: R1047G

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: R1047G

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

possibly damaging
Transcript: ENSMUST00000201374
AA Change: R1100G

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: R1100G

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

Meta Mutation Damage Score

0.2433

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,604,261 (GRCm39)	R658H	probably benign	Het
Als2cl	C	T	9: 110,727,151 (GRCm39)	R906C	probably damaging	Het
Asb8	T	C	15: 98,034,282 (GRCm39)	H91R	probably damaging	Het
Atp8b3	C	T	10: 80,355,858 (GRCm39)	E1285K	probably benign	Het
Bves	G	A	10: 45,222,386 (GRCm39)	R172H	possibly damaging	Het
C6	A	T	15: 4,763,177 (GRCm39)	N59I	probably damaging	Het
Capn15	A	T	17: 26,180,724 (GRCm39)	V782D	probably damaging	Het
Ccdc168	T	A	1: 44,096,466 (GRCm39)	Y1544F	possibly damaging	Het
Ccdc18	T	C	5: 108,309,554 (GRCm39)	L383S	probably benign	Het
Coro6	C	A	11: 77,357,056 (GRCm39)	N119K	probably benign	Het
Cps1	T	A	1: 67,237,569 (GRCm39)	D1023E	probably damaging	Het
Dctn1	T	A	6: 83,172,262 (GRCm39)		probably null	Het
Ero1a	T	A	14: 45,544,040 (GRCm39)	K55*	probably null	Het
Fam209	G	A	2: 172,314,751 (GRCm39)	G80D	possibly damaging	Het
Fam89b	G	A	19: 5,779,276 (GRCm39)	R94C	probably damaging	Het
Fut1	A	G	7: 45,269,181 (GRCm39)	*323W	probably null	Het
Garin2	C	T	12: 78,766,176 (GRCm39)	T315I	probably benign	Het
Gm47985	T	A	1: 151,058,890 (GRCm39)	F177Y	possibly damaging	Het
Gstm7	T	A	3: 107,838,633 (GRCm39)	D37V	probably damaging	Het
H2-Aa	T	A	17: 34,503,484 (GRCm39)	S38C	possibly damaging	Het
Ighg2c	T	C	12: 113,252,343 (GRCm39)	T70A		Het
Ino80	A	G	2: 119,257,068 (GRCm39)		probably null	Het
Irf8	C	T	8: 121,466,581 (GRCm39)	R9W	probably damaging	Het
Kcnt2	A	G	1: 140,310,785 (GRCm39)	N197S	probably damaging	Het
Kif11	T	A	19: 37,373,040 (GRCm39)	C86*	probably null	Het
Lonp1	A	T	17: 56,933,549 (GRCm39)	F109I	probably benign	Het
Mlkl	G	A	8: 112,046,074 (GRCm39)	S312L	possibly damaging	Het
Mroh9	T	A	1: 162,866,525 (GRCm39)	Q706L	possibly damaging	Het
Mtmr7	T	C	8: 41,008,874 (GRCm39)	H315R	possibly damaging	Het
Myh7b	G	C	2: 155,456,053 (GRCm39)	R146P	probably damaging	Het
Naip5	A	G	13: 100,358,855 (GRCm39)	Y794H	probably benign	Het
Nup153	A	T	13: 46,840,949 (GRCm39)	N886K	probably benign	Het
Oog3	A	T	4: 143,887,027 (GRCm39)	L31Q	probably damaging	Het
Or5b123	T	A	19: 13,596,990 (GRCm39)	S155T	probably benign	Het
Or6c38	T	C	10: 128,929,744 (GRCm39)	Y33C	probably damaging	Het
Palmd	T	C	3: 116,717,012 (GRCm39)	N495S	probably benign	Het
Patj	A	G	4: 98,565,497 (GRCm39)	Q1070R	probably benign	Het
Pax1	G	A	2: 147,207,824 (GRCm39)	R232H	probably damaging	Het
Pcdhb1	A	G	18: 37,399,582 (GRCm39)	N511S	probably damaging	Het
Pigs	C	T	11: 78,232,211 (GRCm39)	L448F	probably damaging	Het
Pih1d2	A	G	9: 50,533,077 (GRCm39)	Y235C	probably damaging	Het
Pkd2l2	T	A	18: 34,558,212 (GRCm39)	I297K	possibly damaging	Het
Pou2f1	C	T	1: 165,742,684 (GRCm39)	V82I	possibly damaging	Het
Pramel1	T	C	4: 143,123,074 (GRCm39)	L17P	probably damaging	Het
Riok1	C	T	13: 38,220,991 (GRCm39)		probably benign	Het
Scg3	C	A	9: 75,568,664 (GRCm39)	E358*	probably null	Het
Siglec15	T	C	18: 78,091,946 (GRCm39)	E85G	probably damaging	Het
Snx20	T	C	8: 89,356,606 (GRCm39)	H70R	probably benign	Het
Spi1	T	A	2: 90,943,685 (GRCm39)	S76R	probably damaging	Het
Stat5a	T	C	11: 100,770,111 (GRCm39)	S463P	probably damaging	Het
Svs5	A	G	2: 164,080,126 (GRCm39)	I13T	unknown	Het
Tmem132e	T	C	11: 82,328,189 (GRCm39)	S406P	probably damaging	Het
Top1mt	T	C	15: 75,540,560 (GRCm39)	N237S	possibly damaging	Het
Trav6d-4	G	A	14: 52,991,053 (GRCm39)	V30M	possibly damaging	Het
Trp73	A	T	4: 154,149,140 (GRCm39)	M217K	probably damaging	Het
Vmn1r58	A	G	7: 5,414,134 (GRCm39)	I32T	probably benign	Het
Vmn1r9	T	C	6: 57,048,396 (GRCm39)	M157T	probably benign	Het
Vmn2r100	C	T	17: 19,751,556 (GRCm39)	S533F	possibly damaging	Het
Vmn2r112	T	A	17: 22,821,507 (GRCm39)	M160K	probably benign	Het
Vps13d	C	A	4: 144,889,914 (GRCm39)	A597S	probably benign	Het
Zfp27	AATCCGCTTGTGCA	AA	7: 29,594,446 (GRCm39)		probably benign	Het

Other mutations in Nup205

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Nup205	APN	6	35,191,737 (GRCm39)	missense	probably damaging	1.00
IGL01086:Nup205	APN	6	35,185,871 (GRCm39)	splice site	probably benign
IGL01138:Nup205	APN	6	35,185,019 (GRCm39)	nonsense	probably null
IGL01333:Nup205	APN	6	35,217,998 (GRCm39)	missense	probably benign
IGL01399:Nup205	APN	6	35,196,624 (GRCm39)	missense	possibly damaging	0.80
IGL01466:Nup205	APN	6	35,176,894 (GRCm39)	missense	probably benign	0.08
IGL01913:Nup205	APN	6	35,204,365 (GRCm39)	missense	probably benign	0.10
IGL02159:Nup205	APN	6	35,166,113 (GRCm39)	missense	probably damaging	1.00
IGL02442:Nup205	APN	6	35,167,003 (GRCm39)	missense	probably benign	0.01
IGL02447:Nup205	APN	6	35,204,511 (GRCm39)	splice site	probably null
IGL02558:Nup205	APN	6	35,166,859 (GRCm39)	missense	probably damaging	1.00
IGL03306:Nup205	APN	6	35,185,104 (GRCm39)	missense	probably damaging	0.98
IGL03328:Nup205	APN	6	35,209,349 (GRCm39)	missense	probably damaging	0.99
Figaro	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
Marcellina	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
Spirit	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
Susanna	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
voyager	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
BB007:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
BB017:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
P0012:Nup205	UTSW	6	35,173,478 (GRCm39)	missense	possibly damaging	0.90
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0102:Nup205	UTSW	6	35,202,715 (GRCm39)	splice site	probably benign
R0362:Nup205	UTSW	6	35,173,649 (GRCm39)	splice site	probably null
R0374:Nup205	UTSW	6	35,185,772 (GRCm39)	missense	probably damaging	1.00
R0415:Nup205	UTSW	6	35,191,569 (GRCm39)	splice site	probably benign
R0427:Nup205	UTSW	6	35,171,398 (GRCm39)	missense	probably benign	0.01
R0543:Nup205	UTSW	6	35,175,904 (GRCm39)	missense	probably benign
R0611:Nup205	UTSW	6	35,202,903 (GRCm39)	missense	probably null	1.00
R0761:Nup205	UTSW	6	35,173,363 (GRCm39)	splice site	probably benign
R0828:Nup205	UTSW	6	35,171,501 (GRCm39)	missense	probably benign
R0906:Nup205	UTSW	6	35,213,827 (GRCm39)	missense	probably damaging	1.00
R1023:Nup205	UTSW	6	35,211,641 (GRCm39)	missense	probably damaging	0.98
R1033:Nup205	UTSW	6	35,204,377 (GRCm39)	missense	probably benign
R1375:Nup205	UTSW	6	35,177,006 (GRCm39)	splice site	probably benign
R1447:Nup205	UTSW	6	35,192,120 (GRCm39)	missense	probably benign	0.00
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1468:Nup205	UTSW	6	35,202,917 (GRCm39)	critical splice donor site	probably null
R1625:Nup205	UTSW	6	35,168,878 (GRCm39)	missense	probably benign	0.31
R1652:Nup205	UTSW	6	35,215,901 (GRCm39)	missense	probably benign
R1659:Nup205	UTSW	6	35,211,723 (GRCm39)	missense	probably benign	0.02
R1693:Nup205	UTSW	6	35,187,906 (GRCm39)	missense	probably benign	0.05
R1769:Nup205	UTSW	6	35,182,366 (GRCm39)	missense	probably damaging	1.00
R1839:Nup205	UTSW	6	35,196,649 (GRCm39)	missense	probably benign	0.00
R1959:Nup205	UTSW	6	35,210,301 (GRCm39)	missense	probably benign	0.16
R2051:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R2267:Nup205	UTSW	6	35,218,284 (GRCm39)	missense	possibly damaging	0.67
R2401:Nup205	UTSW	6	35,185,069 (GRCm39)	nonsense	probably null
R3697:Nup205	UTSW	6	35,165,646 (GRCm39)	missense	probably benign	0.15
R3938:Nup205	UTSW	6	35,196,677 (GRCm39)	missense	probably damaging	1.00
R4074:Nup205	UTSW	6	35,168,975 (GRCm39)	critical splice donor site	probably null
R4117:Nup205	UTSW	6	35,217,947 (GRCm39)	nonsense	probably null
R4364:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4366:Nup205	UTSW	6	35,168,962 (GRCm39)	missense	probably benign	0.38
R4594:Nup205	UTSW	6	35,173,424 (GRCm39)	missense	probably benign	0.00
R4706:Nup205	UTSW	6	35,178,943 (GRCm39)	missense	probably damaging	1.00
R4787:Nup205	UTSW	6	35,178,996 (GRCm39)	missense	probably damaging	1.00
R4849:Nup205	UTSW	6	35,207,505 (GRCm39)	missense	possibly damaging	0.90
R4850:Nup205	UTSW	6	35,207,465 (GRCm39)	missense	probably benign	0.16
R4943:Nup205	UTSW	6	35,201,574 (GRCm39)	missense	probably damaging	1.00
R4966:Nup205	UTSW	6	35,220,784 (GRCm39)	missense	probably benign	0.00
R5138:Nup205	UTSW	6	35,202,801 (GRCm39)	missense	probably damaging	1.00
R5251:Nup205	UTSW	6	35,173,417 (GRCm39)	splice site	probably null
R5444:Nup205	UTSW	6	35,166,124 (GRCm39)	missense	probably damaging	0.98
R5760:Nup205	UTSW	6	35,224,278 (GRCm39)	missense	probably damaging	1.00
R5762:Nup205	UTSW	6	35,207,483 (GRCm39)	missense	probably damaging	0.96
R5762:Nup205	UTSW	6	35,204,615 (GRCm39)	missense	probably damaging	1.00
R5941:Nup205	UTSW	6	35,209,343 (GRCm39)	missense	probably damaging	0.98
R5969:Nup205	UTSW	6	35,154,513 (GRCm39)	unclassified	probably benign
R6003:Nup205	UTSW	6	35,189,751 (GRCm39)	missense	probably benign
R6178:Nup205	UTSW	6	35,220,778 (GRCm39)	missense	possibly damaging	0.85
R6315:Nup205	UTSW	6	35,213,804 (GRCm39)	missense	probably damaging	1.00
R6392:Nup205	UTSW	6	35,166,820 (GRCm39)	missense	possibly damaging	0.80
R6710:Nup205	UTSW	6	35,224,308 (GRCm39)	missense	probably benign	0.00
R6954:Nup205	UTSW	6	35,185,044 (GRCm39)	missense	possibly damaging	0.94
R7022:Nup205	UTSW	6	35,220,871 (GRCm39)	missense	probably benign	0.45
R7041:Nup205	UTSW	6	35,201,470 (GRCm39)	missense	possibly damaging	0.49
R7310:Nup205	UTSW	6	35,202,904 (GRCm39)	missense	possibly damaging	0.78
R7363:Nup205	UTSW	6	35,209,508 (GRCm39)	missense	probably benign	0.28
R7399:Nup205	UTSW	6	35,191,611 (GRCm39)	missense	probably damaging	0.99
R7428:Nup205	UTSW	6	35,204,494 (GRCm39)	missense	probably damaging	1.00
R7553:Nup205	UTSW	6	35,178,934 (GRCm39)	missense	probably damaging	1.00
R7665:Nup205	UTSW	6	35,154,555 (GRCm39)	missense	possibly damaging	0.46
R7841:Nup205	UTSW	6	35,224,372 (GRCm39)	missense	unknown
R7930:Nup205	UTSW	6	35,171,511 (GRCm39)	missense	probably damaging	0.98
R7973:Nup205	UTSW	6	35,222,274 (GRCm39)	missense	probably benign
R7976:Nup205	UTSW	6	35,175,888 (GRCm39)	missense	probably damaging	1.00
R8073:Nup205	UTSW	6	35,179,104 (GRCm39)	critical splice donor site	probably null
R8080:Nup205	UTSW	6	35,204,311 (GRCm39)	missense	probably damaging	1.00
R8118:Nup205	UTSW	6	35,207,451 (GRCm39)	missense	probably benign	0.29
R8213:Nup205	UTSW	6	35,202,138 (GRCm39)	missense	probably benign	0.26
R8237:Nup205	UTSW	6	35,204,438 (GRCm39)	missense	possibly damaging	0.89
R8408:Nup205	UTSW	6	35,202,182 (GRCm39)	missense	probably damaging	1.00
R8807:Nup205	UTSW	6	35,160,904 (GRCm39)	missense	probably damaging	1.00
R8812:Nup205	UTSW	6	35,191,269 (GRCm39)	missense	probably damaging	1.00
R9061:Nup205	UTSW	6	35,196,808 (GRCm39)	intron	probably benign
R9261:Nup205	UTSW	6	35,176,792 (GRCm39)	missense	probably benign	0.00
R9403:Nup205	UTSW	6	35,176,909 (GRCm39)	missense	probably benign	0.45
R9648:Nup205	UTSW	6	35,202,746 (GRCm39)	missense	probably benign	0.00
R9744:Nup205	UTSW	6	35,209,510 (GRCm39)	missense	probably damaging	0.99
R9800:Nup205	UTSW	6	35,163,468 (GRCm39)	missense	possibly damaging	0.85
Z1177:Nup205	UTSW	6	35,185,728 (GRCm39)	critical splice acceptor site	probably null
Z1177:Nup205	UTSW	6	35,154,540 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CGGGTTAGTCTTGAGGATCAAAG -3'
(R):5'- ACACCTAGTCGTCCTCAGTC -3'

Sequencing Primer
(F):5'- GTCTTGAGGATCAAAGGTGTCTAAAC -3'
(R):5'- CTGCTAGCATCTTCAGATCTATAGG -3'

Posted On

2019-05-13