Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Nup85'

366172

Institutional Source

Beutler Lab

Gene Symbol

Nup85

Ensembl Gene

ENSMUSG00000020739

Gene Name

nucleoporin 85

Synonyms

frount, Pcnt1

MMRRC Submission

042407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4766 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

115564434-115583985 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 115577925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021085] [ENSMUST00000140986] [ENSMUST00000144473]

AlphaFold

Q8R480

Predicted Effect

probably null
Transcript: ENSMUST00000021085

SMART Domains

Protein: ENSMUSP00000021085
Gene: ENSMUSG00000020739

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: ENSMUST00000127126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128745

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138998

Predicted Effect

probably null
Transcript: ENSMUST00000140986

SMART Domains

Protein: ENSMUSP00000117333
Gene: ENSMUSG00000020739

Domain	Start	End	E-Value	Type
Pfam:Nucleopor_Nup85	21	280	5.9e-107	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143351

Predicted Effect

probably null
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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Flvcr1	A	T	1: 191,021,106	S290T	probably benign	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		probably null	Het

Other mutations in Nup85

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00550:Nup85	APN	11	115581756	missense	probably damaging	1.00
IGL01538:Nup85	APN	11	115569714	missense	possibly damaging	0.81
IGL01775:Nup85	APN	11	115580767	missense	probably damaging	1.00
IGL02170:Nup85	APN	11	115577931	missense	probably damaging	0.97
IGL02456:Nup85	APN	11	115581865	unclassified	probably benign
IGL02888:Nup85	APN	11	115578800	missense	possibly damaging	0.89
IGL03210:Nup85	APN	11	115566636	missense	probably benign	0.11
PIT4403001:Nup85	UTSW	11	115581820	missense	probably damaging	0.98
R0195:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0394:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0639:Nup85	UTSW	11	115564531	start codon destroyed	probably null	1.00
R0883:Nup85	UTSW	11	115568370	nonsense	probably null
R1567:Nup85	UTSW	11	115568398	missense	possibly damaging	0.83
R1774:Nup85	UTSW	11	115582945	missense	probably benign	0.01
R1846:Nup85	UTSW	11	115568413	missense	probably benign	0.11
R1851:Nup85	UTSW	11	115581817	missense	probably damaging	1.00
R2084:Nup85	UTSW	11	115568691	missense	possibly damaging	0.71
R5748:Nup85	UTSW	11	115580512	missense	probably damaging	1.00
R6362:Nup85	UTSW	11	115583734	missense	probably damaging	0.98
R6906:Nup85	UTSW	11	115580943	missense	probably damaging	1.00
R6951:Nup85	UTSW	11	115582955	missense	possibly damaging	0.95
R7835:Nup85	UTSW	11	115570071	missense	probably benign	0.35
R8125:Nup85	UTSW	11	115578237	frame shift	probably null
R8151:Nup85	UTSW	11	115577933	missense	probably benign	0.06
R8415:Nup85	UTSW	11	115566642	missense	probably benign
R8517:Nup85	UTSW	11	115564564	critical splice donor site	probably null
R9090:Nup85	UTSW	11	115577961	missense	possibly damaging	0.94
R9254:Nup85	UTSW	11	115578598	missense	probably benign
R9271:Nup85	UTSW	11	115577961	missense	possibly damaging	0.94
R9379:Nup85	UTSW	11	115578598	missense	probably benign
R9670:Nup85	UTSW	11	115566645	missense	probably benign	0.41
R9709:Nup85	UTSW	11	115566637	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCTGACTGACTATAGGCTGTGATG -3'
(R):5'- AGGTTGGCTGTGAGACTCTC -3'

Sequencing Primer
(F):5'- TGTGATGAGCTGACATACCC -3'
(R):5'- TGTGAGACTCTCAGCTGCC -3'

Posted On

2015-12-21