Mutagenetix > Incidental Mutation

Incidental Mutation 'R7553:Nup205'

584541

Institutional Source

Beutler Lab

Gene Symbol

Nup205

Ensembl Gene

ENSMUSG00000038759

Gene Name

nucleoporin 205

Synonyms

3830404O05Rik

MMRRC Submission

045622-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7553 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35154551-35224534 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35178934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 668 (R668L)

Ref Sequence

ENSEMBL: ENSMUSP00000144126 (fasta)

Gene Model

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

AlphaFold

A0A0J9YUD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000043815
AA Change: R615L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: R615L

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 damaging
Transcript: ENSMUST00000201374
AA Change: R668L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: R668L

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

0.9101

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	G	7: 45,648,545 (GRCm39)	L649P	probably damaging	Het
Acad10	T	C	5: 121,777,318 (GRCm39)	Y371C	probably damaging	Het
Avp	A	G	2: 130,423,098 (GRCm39)	V71A	probably damaging	Het
Bhmt	C	T	13: 93,756,589 (GRCm39)		probably null	Het
Capn15	T	C	17: 26,179,738 (GRCm39)	E874G	probably damaging	Het
Capn5	A	G	7: 97,773,231 (GRCm39)	F591S	probably damaging	Het
Ccne2	A	T	4: 11,201,348 (GRCm39)	Q292L	probably benign	Het
Cd96	T	G	16: 45,872,384 (GRCm39)	T406P	probably damaging	Het
Csnk1e	G	A	15: 79,310,566 (GRCm39)	A153V	probably damaging	Het
Dlk1	G	A	12: 109,420,889 (GRCm39)	V15I	unknown	Het
Dmbt1	A	G	7: 130,706,597 (GRCm39)	N1372S	unknown	Het
Dntt	A	T	19: 41,017,926 (GRCm39)	R17W	probably damaging	Het
Erich3	G	T	3: 154,439,137 (GRCm39)	A260S	probably benign	Het
Foxp2	C	T	6: 15,437,881 (GRCm39)	S669L	unknown	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Grid2	A	G	6: 64,053,925 (GRCm39)	K375E	possibly damaging	Het
Grin2b	C	T	6: 135,749,394 (GRCm39)	G603S	possibly damaging	Het
Hexb	C	T	13: 97,334,681 (GRCm39)	R30Q	probably benign	Het
Homer3	A	T	8: 70,742,774 (GRCm39)	T162S	probably benign	Het
L3mbtl1	A	G	2: 162,790,151 (GRCm39)	E15G	probably benign	Het
Manea	A	T	4: 26,327,986 (GRCm39)	F352I	probably damaging	Het
Mcf2l	T	A	8: 13,047,268 (GRCm39)	M210K	probably benign	Het
Morc3	T	C	16: 93,667,824 (GRCm39)	L734P	probably damaging	Het
Mybpc2	A	G	7: 44,155,571 (GRCm39)	V894A	possibly damaging	Het
Myh4	T	A	11: 67,147,221 (GRCm39)	M1622K	probably damaging	Het
Myrf	A	G	19: 10,206,240 (GRCm39)	F59L	probably benign	Het
Ndst3	G	T	3: 123,350,709 (GRCm39)		probably null	Het
Nln	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC	13: 104,186,924 (GRCm39)		probably null	Het
Nos3	A	T	5: 24,586,715 (GRCm39)	D986V	possibly damaging	Het
Nrp1	G	A	8: 129,158,468 (GRCm39)	A252T	probably damaging	Het
Or51aa2	T	C	7: 103,188,363 (GRCm39)	Y26C	probably damaging	Het
Or5af2	T	A	11: 58,707,886 (GRCm39)	D17E	probably benign	Het
Or5p56	G	A	7: 107,589,682 (GRCm39)	V37I	probably benign	Het
Pcdhga1	T	A	18: 37,882,735 (GRCm39)		probably null	Het
Pck1	A	G	2: 172,998,860 (GRCm39)	I373V	probably benign	Het
Pde8b	T	C	13: 95,223,258 (GRCm39)	N227S	probably benign	Het
Pianp	T	G	6: 124,976,214 (GRCm39)	S8A	unknown	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pla2r1	A	T	2: 60,353,243 (GRCm39)	N239K	possibly damaging	Het
Pls1	T	A	9: 95,669,140 (GRCm39)	N27I	probably damaging	Het
Prep	T	C	10: 45,034,620 (GRCm39)	*711Q	probably null	Het
Prkag3	A	G	1: 74,783,894 (GRCm39)	F330L	probably damaging	Het
Prss56	A	G	1: 87,111,261 (GRCm39)	D16G	probably benign	Het
Rad17	A	T	13: 100,769,794 (GRCm39)	F255Y	probably damaging	Het
Rap1gap2	T	C	11: 74,326,548 (GRCm39)	E173G	probably damaging	Het
Retreg3	C	T	11: 100,997,216 (GRCm39)	R88H	possibly damaging	Het
Rhag	G	A	17: 41,139,286 (GRCm39)	G74R	probably damaging	Het
Rybp	A	G	6: 100,209,220 (GRCm39)	S201P	possibly damaging	Het
S100a10	G	A	3: 93,471,602 (GRCm39)	C62Y	probably benign	Het
Scgb2b3	T	A	7: 31,059,673 (GRCm39)	S34C	possibly damaging	Het
Serpind1	A	G	16: 17,154,539 (GRCm39)	D122G	probably benign	Het
Setdb1	A	G	3: 95,254,076 (GRCm39)	L242P	probably damaging	Het
Slc14a2	T	A	18: 78,198,803 (GRCm39)	I776F	probably damaging	Het
Slc9a1	A	G	4: 133,139,580 (GRCm39)	E266G	probably damaging	Het
Stard9	A	T	2: 120,524,289 (GRCm39)		probably null	Het
Stpg2	A	G	3: 138,924,098 (GRCm39)	Y167C	probably damaging	Het
Tex264	T	C	9: 106,536,335 (GRCm39)	E274G	probably damaging	Het
Tigd2	G	A	6: 59,188,564 (GRCm39)	S477N	probably benign	Het
Urb1	A	G	16: 90,589,752 (GRCm39)	L343P	probably damaging	Het
Vars2	A	T	17: 35,975,680 (GRCm39)	C246S	possibly damaging	Het
Vil1	G	A	1: 74,465,891 (GRCm39)		probably null	Het
Vmn2r61	C	G	7: 41,916,205 (GRCm39)	L273V	not run	Het
Vmn2r-ps158	T	G	7: 42,697,447 (GRCm39)	C835G	probably damaging	Het
Zfp37	C	A	4: 62,110,236 (GRCm39)	G317V	probably damaging	Het
Zfp760	A	G	17: 21,941,872 (GRCm39)	K349R	possibly damaging	Het
Zyx	A	T	6: 42,327,408 (GRCm39)	E69V	probably null	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
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
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'- AGACAGATACCTTCTTTGTTGTGG -3'
(R):5'- GTGTGTATTCCAACGACTGCC -3'

Sequencing Primer
(F):5'- ATCGCATTTCGTAGCTGTGAC -3'
(R):5'- GTGTATTCCAACGACTGCCAAAGTG -3'

Posted On

2019-10-17