Mutagenetix > Incidental Mutation

Incidental Mutation 'R4366:Nup205'

325750

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

041114-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R4366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35168962 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 397 (P397Q)

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: P344Q

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: P344Q

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: P397Q

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: P397Q

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: ENSMUST00000202898

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.7%

Validation Efficiency

95% (57/60)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	A	C	17: 43,752,860 (GRCm39)	T396P	probably damaging	Het
Apob	A	T	12: 8,066,083 (GRCm39)	I4318F	possibly damaging	Het
Apol7c	T	G	15: 77,410,589 (GRCm39)	D119A	probably benign	Het
App	G	T	16: 84,853,321 (GRCm39)	D252E	unknown	Het
C4a	T	A	17: 35,033,885 (GRCm39)		noncoding transcript	Het
Cacna1b	T	C	2: 24,592,632 (GRCm39)	Y515C	probably damaging	Het
Cacna1f	G	T	X: 7,476,213 (GRCm39)	A123S	probably damaging	Het
Cldn6	G	C	17: 23,900,494 (GRCm39)	A153P	probably benign	Het
Cmya5	T	C	13: 93,228,464 (GRCm39)	N2208S	probably benign	Het
Csnk1g1	A	G	9: 65,927,135 (GRCm39)	T101A	probably benign	Het
Ddx46	T	A	13: 55,811,049 (GRCm39)	D544E	probably benign	Het
Dmxl1	T	A	18: 50,011,084 (GRCm39)	C1080*	probably null	Het
Dst	T	C	1: 34,290,959 (GRCm39)	S3335P	probably damaging	Het
Efnb3	T	C	11: 69,446,771 (GRCm39)	K313R	probably damaging	Het
Elf2	G	A	3: 51,215,570 (GRCm39)	Q47*	probably null	Het
Epc2	A	G	2: 49,437,566 (GRCm39)	K657E	possibly damaging	Het
Ephx4	A	G	5: 107,551,679 (GRCm39)		probably benign	Het
Ereg	T	C	5: 91,234,659 (GRCm39)	I24T	probably benign	Het
Evc2	C	A	5: 37,496,013 (GRCm39)	A41D	possibly damaging	Het
Fkbp15	A	G	4: 62,254,651 (GRCm39)	V283A	probably benign	Het
Flrt3	T	C	2: 140,502,327 (GRCm39)	T434A	probably damaging	Het
Gm572	A	G	4: 148,739,322 (GRCm39)	D50G	possibly damaging	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hivep3	A	C	4: 119,953,286 (GRCm39)	H534P	possibly damaging	Het
Hspa4l	C	A	3: 40,721,241 (GRCm39)		probably null	Het
Ipo7	T	C	7: 109,628,919 (GRCm39)	M63T	possibly damaging	Het
Ipo7	A	T	7: 109,647,423 (GRCm39)	T614S	possibly damaging	Het
Krt87	T	G	15: 101,385,395 (GRCm39)	M326L	probably benign	Het
Mbd5	T	A	2: 49,162,978 (GRCm39)	N261K	probably damaging	Het
Mcam	T	A	9: 44,045,994 (GRCm39)	L3Q	probably damaging	Het
Mcoln3	C	A	3: 145,846,247 (GRCm39)	T519K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrgprx1	C	A	7: 47,670,941 (GRCm39)	A269S	probably damaging	Het
Mypn	T	C	10: 63,028,487 (GRCm39)	E192G	probably benign	Het
Obsl1	A	C	1: 75,464,693 (GRCm39)	L1576R	possibly damaging	Het
Ofcc1	A	G	13: 40,168,937 (GRCm39)	S817P	probably benign	Het
Or6c210	A	T	10: 129,496,400 (GRCm39)	M242L	probably benign	Het
Or8b12c	A	T	9: 37,715,486 (GRCm39)	H93L	probably benign	Het
Pcdhgb7	A	G	18: 37,887,125 (GRCm39)	Y765C	possibly damaging	Het
Pde7a	A	G	3: 19,365,026 (GRCm39)		probably null	Het
Phip	C	T	9: 82,782,922 (GRCm39)		probably benign	Het
Rhbdl2	T	A	4: 123,703,728 (GRCm39)	M1K	probably null	Het
Ripor2	C	T	13: 24,905,694 (GRCm39)	P947S	probably benign	Het
Sf3a3	A	G	4: 124,618,932 (GRCm39)	T298A	probably benign	Het
Slc25a29	C	T	12: 108,797,097 (GRCm39)		probably benign	Het
Spinkl	T	G	18: 44,307,650 (GRCm39)	T4P	possibly damaging	Het
Stk33	G	A	7: 108,879,002 (GRCm39)	S449L	probably benign	Het
Suz12	T	A	11: 79,892,988 (GRCm39)		probably benign	Het
Timp2	T	A	11: 118,201,497 (GRCm39)	I124F	probably damaging	Het
Tlr1	C	T	5: 65,083,180 (GRCm39)	D466N	probably benign	Het
Tmem200b	A	G	4: 131,649,781 (GRCm39)	I234V	possibly damaging	Het
Ubr1	C	A	2: 120,801,084 (GRCm39)		probably benign	Het
Usp33	C	A	3: 152,074,149 (GRCm39)	Q332K	probably benign	Het
Zfr	A	G	15: 12,156,416 (GRCm39)	E634G	probably 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
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
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'- ATATCCATGTGTGACGGATGTG -3'
(R):5'- CTACTTTACAAAGTTATGAGGGGTGTG -3'

Sequencing Primer
(F):5'- ACGGATGTGAGAATTTATTTCTGCTC -3'
(R):5'- ACTCCAGGGAATTCTTGGATCTCAG -3'

Posted On

2015-07-06