Mutagenetix > Incidental Mutation

Incidental Mutation 'R1693:Nup205'

191924

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

039726-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1693 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35187906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 939 (I939V)

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: I886V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: I886V

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: I939V

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: I939V

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

Meta Mutation Damage Score

0.0580

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.2%
20x: 92.2%

Validation Efficiency

96% (69/72)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	A	G	11: 53,287,380 (GRCm39)	D378G	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Aox1	T	C	1: 58,124,701 (GRCm39)	Y981H	probably damaging	Het
Arfgap2	T	A	2: 91,100,420 (GRCm39)		probably null	Het
Ccnf	TGGGGG	TGGGGGGG	17: 24,445,514 (GRCm39)		probably null	Het
Cd53	T	C	3: 106,676,205 (GRCm39)	N54S	possibly damaging	Het
Cep152	C	A	2: 125,408,174 (GRCm39)	A1390S	probably benign	Het
Cfap91	A	G	16: 38,162,085 (GRCm39)	Y19H	probably benign	Het
Chd7	T	C	4: 8,864,307 (GRCm39)		probably null	Het
Chrm5	A	G	2: 112,309,625 (GRCm39)	L497P	probably damaging	Het
Colec12	G	A	18: 9,866,765 (GRCm39)	V659M	unknown	Het
Creb3	C	A	4: 43,566,755 (GRCm39)	H390Q	probably damaging	Het
D1Pas1	T	C	1: 186,700,226 (GRCm39)	F52L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,441 (GRCm39)	F985L	probably damaging	Het
Dock4	C	T	12: 40,884,721 (GRCm39)	P1742S	probably benign	Het
Ehmt2	G	T	17: 35,125,386 (GRCm39)	V534L	possibly damaging	Het
Epcam	A	G	17: 87,947,324 (GRCm39)	D26G	probably benign	Het
F2	C	T	2: 91,459,524 (GRCm39)	V420M	probably damaging	Het
Fbxw16	A	T	9: 109,265,327 (GRCm39)	D401E	possibly damaging	Het
Fiz1	T	C	7: 5,011,727 (GRCm39)	T264A	probably benign	Het
Fsbp	T	C	4: 11,583,745 (GRCm39)	V148A	probably benign	Het
Furin	A	G	7: 80,042,230 (GRCm39)	L455P	probably damaging	Het
Ggt7	G	A	2: 155,348,395 (GRCm39)	R10W	probably damaging	Het
Gucy2g	T	C	19: 55,211,358 (GRCm39)	E624G	probably damaging	Het
Igf2r	A	G	17: 12,923,203 (GRCm39)	F1202S	probably damaging	Het
Ikzf1	C	T	11: 11,657,838 (GRCm39)	P32S	probably damaging	Het
Itgal	G	A	7: 126,904,453 (GRCm39)	V309M	probably damaging	Het
Kcnk5	C	A	14: 20,191,964 (GRCm39)	R399L	probably damaging	Het
Kdm5b	C	T	1: 134,525,314 (GRCm39)		probably benign	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Lrp4	T	C	2: 91,322,698 (GRCm39)	Y1096H	probably damaging	Het
Lrrc7	C	G	3: 157,790,170 (GRCm39)	S1465T	possibly damaging	Het
Map3k5	A	G	10: 19,979,988 (GRCm39)	N832S	probably damaging	Het
Mrtfb	C	A	16: 13,216,334 (GRCm39)	L349I	possibly damaging	Het
Mrtfb	T	A	16: 13,216,335 (GRCm39)	L349Q	probably damaging	Het
Myh13	A	C	11: 67,232,310 (GRCm39)	M495L	possibly damaging	Het
Myh9	A	C	15: 77,697,097 (GRCm39)	Y106D	probably damaging	Het
Naa16	A	T	14: 79,588,896 (GRCm39)	W452R	probably damaging	Het
Nsd1	T	C	13: 55,395,074 (GRCm39)	S892P	probably benign	Het
Oit3	A	G	10: 59,261,239 (GRCm39)	F476S	probably damaging	Het
Or7e174	T	C	9: 20,012,883 (GRCm39)	V276A	probably benign	Het
Panx3	A	T	9: 37,580,203 (GRCm39)	M50K	possibly damaging	Het
Panx3	A	C	9: 37,580,242 (GRCm39)	M37R	possibly damaging	Het
Pip4p2	T	A	4: 14,886,631 (GRCm39)	D68E	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prkaca	T	A	8: 84,707,827 (GRCm39)	D37E	probably benign	Het
Prkcq	T	A	2: 11,259,010 (GRCm39)	I310N	probably damaging	Het
Prrc2c	A	G	1: 162,546,282 (GRCm39)	Y235H	probably damaging	Het
Ptprj	A	T	2: 90,280,141 (GRCm39)	C1052*	probably null	Het
Rad52	C	A	6: 119,892,996 (GRCm39)	P180Q	probably damaging	Het
Sdhaf3	T	A	6: 7,038,964 (GRCm39)	D95E	probably benign	Het
Slitrk6	A	G	14: 110,988,360 (GRCm39)	I449T	probably damaging	Het
Spata7	T	A	12: 98,630,516 (GRCm39)	M358K	possibly damaging	Het
Tada2a	C	T	11: 83,972,895 (GRCm39)	G178D	probably damaging	Het
Tap2	G	C	17: 34,428,186 (GRCm39)	V287L	probably benign	Het
Tmem200a	A	G	10: 25,869,877 (GRCm39)	F131L	possibly damaging	Het
Traip	A	T	9: 107,847,229 (GRCm39)	K356M	probably damaging	Het
Tspan8	T	A	10: 115,679,949 (GRCm39)		probably benign	Het
U2surp	A	T	9: 95,393,913 (GRCm39)	M1K	probably null	Het
Vars1	A	T	17: 35,217,172 (GRCm39)	D427E	probably benign	Het
Vmn1r113	G	A	7: 20,521,532 (GRCm39)	C108Y	probably damaging	Het
Vmn2r63	T	A	7: 42,577,743 (GRCm39)	Q265L	probably benign	Het
Vps33b	T	A	7: 79,937,641 (GRCm39)	V463E	probably damaging	Het
Vrtn	T	C	12: 84,695,429 (GRCm39)	S60P	probably benign	Het
Zfp53	T	A	17: 21,729,884 (GRCm39)	V639D	possibly damaging	Het
Zfp964	T	A	8: 70,116,800 (GRCm39)	S466T	possibly damaging	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
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
R7052:Nup205	UTSW	6	35,192,077 (GRCm39)	missense	possibly damaging	0.81
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'- TCTTTGGGGTTACAGGAAAGAAACACC -3'
(R):5'- TGTCCAAACACTCAAGTTTCCCTACAG -3'

Sequencing Primer
(F):5'- CCTGGAAAAAGCAGTTCAGC -3'
(R):5'- ccagggcaacacagagaaac -3'

Posted On

2014-05-14