Mutagenetix > Incidental Mutation

Incidental Mutation 'R2084:Nup85'

230221

Institutional Source

Beutler Lab

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

Pcnt1, frount

MMRRC Submission

040089-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2084 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115455264-115474750 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 115459517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 125 (D125V)

Ref Sequence

ENSEMBL: ENSMUSP00000021085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021085] [ENSMUST00000144473]

AlphaFold

Q8R480

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021085
AA Change: D125V

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739
AA Change: D125V

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	53	606	1.2e-181	PFAM
low complexity region	635	649	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135893

Predicted Effect

probably benign
Transcript: ENSMUST00000144473

SMART Domains

Protein: ENSMUSP00000116069
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	1	170	3e-56	PFAM
Pfam:Nucleopor_Nup85	168	274	1.1e-47	PFAM

Meta Mutation Damage Score

0.5635

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein component of the Nup107-160 subunit of the nuclear pore complex. Nuclear pore complexes are embedded in the nuclear envelope and promote bidirectional transport of macromolecules between the cytoplasm and nucleus. The encoded protein can also bind to the C-terminus of chemokine (C-C motif) receptor 2 (CCR2) and promote chemotaxis of monocytes, thereby participating in the inflammatory response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd36	C	T	11: 5,612,378 (GRCm39)	Q1237*	probably null	Het
Aph1c	T	G	9: 66,726,579 (GRCm39)	R258S	probably damaging	Het
Arfgap3	T	A	15: 83,218,767 (GRCm39)	N102I	probably damaging	Het
Astn1	T	C	1: 158,299,978 (GRCm39)	V106A	probably damaging	Het
BC005537	G	T	13: 24,996,698 (GRCm39)		probably null	Het
Card10	G	A	15: 78,677,171 (GRCm39)	T412M	possibly damaging	Het
Cars1	T	C	7: 143,140,919 (GRCm39)	I126M	probably benign	Het
Cfap20dc	T	C	14: 8,558,171 (GRCm38)	D138G	probably damaging	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Cpped1	T	C	16: 11,646,365 (GRCm39)	D153G	probably damaging	Het
Cyp2j11	T	A	4: 96,227,438 (GRCm39)	I193F	probably damaging	Het
Dnm2	T	C	9: 21,411,667 (GRCm39)		probably null	Het
Efemp1	A	G	11: 28,865,763 (GRCm39)	D288G	probably damaging	Het
Espl1	T	C	15: 102,205,286 (GRCm39)		probably null	Het
Fcgbpl1	G	A	7: 27,856,960 (GRCm39)	V2103M	probably damaging	Het
Fcrl5	T	C	3: 87,351,537 (GRCm39)	F262L	probably benign	Het
Gh	G	A	11: 106,191,958 (GRCm39)	P84L	probably damaging	Het
Gm10267	T	C	18: 44,290,397 (GRCm39)	R37G	probably benign	Het
Hmgxb3	C	T	18: 61,288,095 (GRCm39)		probably benign	Het
Ifit2	T	C	19: 34,550,750 (GRCm39)	W97R	probably damaging	Het
Ift81	T	G	5: 122,705,410 (GRCm39)	K491Q	probably benign	Het
Ints8	A	G	4: 11,230,377 (GRCm39)	V488A	probably benign	Het
Krba1	T	A	6: 48,391,502 (GRCm39)	L797Q	probably damaging	Het
Krr1	T	C	10: 111,812,690 (GRCm39)	V100A	probably damaging	Het
Nav1	C	T	1: 135,535,158 (GRCm39)		probably benign	Het
Nos1	C	A	5: 118,081,310 (GRCm39)	Q1205K	probably damaging	Het
Or5ak23	T	C	2: 85,244,959 (GRCm39)	E88G	probably benign	Het
Pclo	T	G	5: 14,732,162 (GRCm39)	S3555A	probably benign	Het
Pdzrn3	T	C	6: 101,131,256 (GRCm39)	I473V	probably benign	Het
Polr1a	A	G	6: 71,927,793 (GRCm39)	E848G	possibly damaging	Het
Pop1	T	C	15: 34,508,744 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,425,920 (GRCm39)	T8S	probably damaging	Het
Prpf3	C	T	3: 95,756,301 (GRCm39)	E117K	probably benign	Het
Psmg3	C	T	5: 139,809,744 (GRCm39)	V101M	probably benign	Het
Rexo1	G	A	10: 80,397,100 (GRCm39)	S52L	probably benign	Het
Ryk	C	T	9: 102,752,971 (GRCm39)	T210M	probably damaging	Het
Sde2	A	G	1: 180,690,198 (GRCm39)	E306G	probably damaging	Het
Sec24c	A	G	14: 20,741,347 (GRCm39)	Q658R	probably benign	Het
Sgsm1	G	A	5: 113,433,266 (GRCm39)	T183I	probably damaging	Het
Skint7	T	A	4: 111,837,375 (GRCm39)	V51E	probably damaging	Het
Slc6a5	T	A	7: 49,598,002 (GRCm39)	M622K	probably benign	Het
Slco1a5	T	C	6: 142,180,437 (GRCm39)	H655R	probably benign	Het
Slco1c1	T	A	6: 141,505,578 (GRCm39)	Y452*	probably null	Het
Spn	T	C	7: 126,736,210 (GRCm39)	E99G	probably benign	Het
Ssc5d	A	G	7: 4,940,011 (GRCm39)	I789V	probably benign	Het
Taok2	G	A	7: 126,469,363 (GRCm39)	T1155I	probably benign	Het
Tet2	T	C	3: 133,193,528 (GRCm39)	Q302R	possibly damaging	Het
Trmt1l	A	G	1: 151,316,605 (GRCm39)	T189A	probably damaging	Het
Tubal3	T	C	13: 3,978,192 (GRCm39)	I36T	possibly damaging	Het
Vmn2r71	A	T	7: 85,267,945 (GRCm39)	Y133F	probably benign	Het
Vps11	G	T	9: 44,264,558 (GRCm39)	H673N	probably benign	Het
Zc3h12a	C	T	4: 125,013,802 (GRCm39)	S354N	probably benign	Het
Zfp2	A	G	11: 50,791,789 (GRCm39)	S85P	probably benign	Het

Other mutations in Nup85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Nup85	APN	11	115,472,582 (GRCm39)	missense	probably damaging	1.00
IGL01538:Nup85	APN	11	115,460,540 (GRCm39)	missense	possibly damaging	0.81
IGL01775:Nup85	APN	11	115,471,593 (GRCm39)	missense	probably damaging	1.00
IGL02170:Nup85	APN	11	115,468,757 (GRCm39)	missense	probably damaging	0.97
IGL02456:Nup85	APN	11	115,472,691 (GRCm39)	unclassified	probably benign
IGL02888:Nup85	APN	11	115,469,626 (GRCm39)	missense	possibly damaging	0.89
IGL03210:Nup85	APN	11	115,457,462 (GRCm39)	missense	probably benign	0.11
PIT4403001:Nup85	UTSW	11	115,472,646 (GRCm39)	missense	probably damaging	0.98
R0195:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0394:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0639:Nup85	UTSW	11	115,455,357 (GRCm39)	start codon destroyed	probably null	1.00
R0883:Nup85	UTSW	11	115,459,196 (GRCm39)	nonsense	probably null
R1567:Nup85	UTSW	11	115,459,224 (GRCm39)	missense	possibly damaging	0.83
R1774:Nup85	UTSW	11	115,473,771 (GRCm39)	missense	probably benign	0.01
R1846:Nup85	UTSW	11	115,459,239 (GRCm39)	missense	probably benign	0.11
R1851:Nup85	UTSW	11	115,472,643 (GRCm39)	missense	probably damaging	1.00
R4766:Nup85	UTSW	11	115,468,751 (GRCm39)	splice site	probably null
R5748:Nup85	UTSW	11	115,471,338 (GRCm39)	missense	probably damaging	1.00
R6362:Nup85	UTSW	11	115,474,560 (GRCm39)	missense	probably damaging	0.98
R6906:Nup85	UTSW	11	115,471,769 (GRCm39)	missense	probably damaging	1.00
R6951:Nup85	UTSW	11	115,473,781 (GRCm39)	missense	possibly damaging	0.95
R7835:Nup85	UTSW	11	115,460,897 (GRCm39)	missense	probably benign	0.35
R8125:Nup85	UTSW	11	115,469,063 (GRCm39)	frame shift	probably null
R8151:Nup85	UTSW	11	115,468,759 (GRCm39)	missense	probably benign	0.06
R8415:Nup85	UTSW	11	115,457,468 (GRCm39)	missense	probably benign
R8517:Nup85	UTSW	11	115,455,390 (GRCm39)	critical splice donor site	probably null
R9090:Nup85	UTSW	11	115,468,787 (GRCm39)	missense	possibly damaging	0.94
R9254:Nup85	UTSW	11	115,469,424 (GRCm39)	missense	probably benign
R9271:Nup85	UTSW	11	115,468,787 (GRCm39)	missense	possibly damaging	0.94
R9379:Nup85	UTSW	11	115,469,424 (GRCm39)	missense	probably benign
R9670:Nup85	UTSW	11	115,457,471 (GRCm39)	missense	probably benign	0.41
R9709:Nup85	UTSW	11	115,457,463 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTTTAAGGAGGCTGCTGTGC -3'
(R):5'- TGAGTTCCCATGGGCTAAAACC -3'

Sequencing Primer
(F):5'- GCTGTGCAGTTCATAATAGGTCC -3'
(R):5'- GTTCCCATGGGCTAAAACCTTGAC -3'

Posted On

2014-09-18