Mutagenetix > Incidental Mutation

Incidental Mutation 'R2419:Nup210'

249134

Institutional Source

Beutler Lab

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, gp210, Pom210

MMRRC Submission

040381-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2419 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90990050-91093811 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 90994538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032179] [ENSMUST00000113509] [ENSMUST00000142951]

AlphaFold

Q9QY81

Predicted Effect

probably benign
Transcript: ENSMUST00000032179

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:BID_2	450	527	3e-29	BLAST
low complexity region	850	862	N/A	INTRINSIC
Blast:S1	937	1022	6e-37	BLAST
BID_2	1077	1152	8.36e-6	SMART
low complexity region	1159	1168	N/A	INTRINSIC
Blast:BID_2	1468	1551	3e-35	BLAST
transmembrane domain	1809	1831	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113509

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Blast:BID_2	450	527	4e-29	BLAST
low complexity region	806	818	N/A	INTRINSIC
Blast:S1	893	978	4e-37	BLAST
BID_2	1033	1108	8.36e-6	SMART
low complexity region	1115	1124	N/A	INTRINSIC
Blast:BID_2	1424	1507	3e-35	BLAST
transmembrane domain	1765	1787	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141952

Predicted Effect

probably benign
Transcript: ENSMUST00000142951

SMART Domains

Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091

Domain	Start	End	E-Value	Type
low complexity region	63	75	N/A	INTRINSIC
Blast:S1	150	235	3e-37	BLAST
BID_2	290	365	8.36e-6	SMART
low complexity region	372	381	N/A	INTRINSIC
Blast:BID_2	681	764	1e-35	BLAST
transmembrane domain	1022	1044	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148397

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a membrane-spanning glycoprotein that is a major component of the nuclear pore complex. Multiple pseudogenes related to this gene are located on chromosome 3. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	A	2: 25,328,001 (GRCm39)	A768T	probably benign	Het
Acyp2	T	C	11: 30,582,316 (GRCm39)	Y33C	probably benign	Het
Ampd3	A	G	7: 110,367,576 (GRCm39)		probably benign	Het
Arap3	T	C	18: 38,122,997 (GRCm39)	D501G	probably damaging	Het
Arl4d	A	T	11: 101,557,714 (GRCm39)	Q80L	probably damaging	Het
Bcorl1	A	G	X: 47,459,418 (GRCm39)	T425A	probably damaging	Het
Ccdc38	T	A	10: 93,384,837 (GRCm39)	V35D	probably benign	Het
Cd6	G	A	19: 10,770,216 (GRCm39)	P492S	probably damaging	Het
Cdh20	G	A	1: 104,902,740 (GRCm39)	S477N	possibly damaging	Het
Cnmd	G	A	14: 79,875,488 (GRCm39)	P311S	probably damaging	Het
Cnot8	G	A	11: 58,006,136 (GRCm39)	G222R	probably damaging	Het
Dnah9	A	T	11: 65,986,241 (GRCm39)	L1131*	probably null	Het
Dscc1	G	A	15: 54,946,820 (GRCm39)	R302*	probably null	Het
Dusp18	T	C	11: 3,847,018 (GRCm39)	S3P	possibly damaging	Het
Eml2	A	G	7: 18,910,620 (GRCm39)		probably benign	Het
Foxb2	G	C	19: 16,850,325 (GRCm39)	A227G	probably damaging	Het
Hey1	A	G	3: 8,731,003 (GRCm39)		probably null	Het
Itk	A	G	11: 46,229,044 (GRCm39)	F379L	probably damaging	Het
Kcna2	G	A	3: 107,011,469 (GRCm39)	G17R	probably benign	Het
Kif7	C	A	7: 79,348,441 (GRCm39)	R1300L	probably benign	Het
Klkb1	A	T	8: 45,742,149 (GRCm39)	D43E	possibly damaging	Het
Leng9	A	G	7: 4,151,626 (GRCm39)	V350A	probably benign	Het
Lmbr1l	A	C	15: 98,805,418 (GRCm39)	F361C	possibly damaging	Het
Lrat	A	G	3: 82,810,992 (GRCm39)	S10P	probably damaging	Het
Lrrk2	C	A	15: 91,681,729 (GRCm39)		probably benign	Het
Mcur1	C	T	13: 43,703,013 (GRCm39)	V241M	possibly damaging	Het
Met	T	C	6: 17,535,829 (GRCm39)		probably benign	Het
Mical3	A	G	6: 120,936,884 (GRCm39)	V342A	probably benign	Het
Or1i2	T	A	10: 78,448,221 (GRCm39)	I85F	probably benign	Het
Or1j12	T	A	2: 36,343,338 (GRCm39)	V247E	probably damaging	Het
Or4c107	A	G	2: 88,789,380 (GRCm39)	N190S	probably benign	Het
Pcdhac1	T	C	18: 37,224,381 (GRCm39)	L398P	probably benign	Het
Phc3	T	C	3: 31,005,027 (GRCm39)	M189V	probably damaging	Het
Plcb1	A	G	2: 135,104,020 (GRCm39)		probably benign	Het
Plcxd3	G	T	15: 4,604,245 (GRCm39)	K284N	probably benign	Het
Plxnb2	A	G	15: 89,045,272 (GRCm39)	V1058A	possibly damaging	Het
Rbbp5	T	C	1: 132,421,564 (GRCm39)	I88T	possibly damaging	Het
Rfpl4b	T	C	10: 38,697,368 (GRCm39)	R78G	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Samt2	A	T	X: 153,358,223 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,453,677 (GRCm39)	H37R	possibly damaging	Het
Setd2	T	A	9: 110,378,065 (GRCm39)	F627I	possibly damaging	Het
Ski	A	G	4: 155,245,350 (GRCm39)	S293P	probably benign	Het
Slc27a1	A	G	8: 72,032,560 (GRCm39)	E191G	possibly damaging	Het
Snx18	T	C	13: 113,753,755 (GRCm39)	M393V	possibly damaging	Het
Spata31g1	A	G	4: 42,974,146 (GRCm39)	T1160A	possibly damaging	Het
Tacc1	A	G	8: 25,672,829 (GRCm39)	V42A	possibly damaging	Het
Tbc1d8	A	G	1: 39,415,983 (GRCm39)	F897L	probably damaging	Het
Tenm3	C	T	8: 48,729,693 (GRCm39)	D1438N	possibly damaging	Het
Tmem62	G	A	2: 120,837,586 (GRCm39)	G501E	probably damaging	Het
Tmem94	A	G	11: 115,687,641 (GRCm39)	K1167E	probably damaging	Het
Trap1	A	G	16: 3,886,194 (GRCm39)	S88P	probably benign	Het
Ugt2b38	T	C	5: 87,571,591 (GRCm39)	D147G	probably damaging	Het
Vmn1r168	A	T	7: 23,240,824 (GRCm39)	N227I	probably benign	Het
Vmn1r203	T	A	13: 22,709,004 (GRCm39)	S262T	possibly damaging	Het
Vmn1r204	T	G	13: 22,740,420 (GRCm39)	L17R	probably damaging	Het
Zcchc14	T	A	8: 122,330,675 (GRCm39)	Q896L	probably damaging	Het
Zfp619	A	G	7: 39,185,307 (GRCm39)	K446E	possibly damaging	Het
Zpr1	T	C	9: 46,187,490 (GRCm39)		probably benign	Het

Other mutations in Nup210

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01139:Nup210	APN	6	91,007,079 (GRCm39)	missense	possibly damaging	0.92
IGL01532:Nup210	APN	6	91,062,981 (GRCm39)	splice site	probably benign
IGL01574:Nup210	APN	6	91,017,546 (GRCm39)	missense	probably benign	0.35
IGL01621:Nup210	APN	6	91,007,099 (GRCm39)	missense	probably damaging	1.00
IGL01976:Nup210	APN	6	91,030,596 (GRCm39)	missense	possibly damaging	0.89
IGL02089:Nup210	APN	6	91,053,680 (GRCm39)	missense	probably benign	0.04
IGL02291:Nup210	APN	6	91,078,250 (GRCm39)	missense	probably damaging	1.00
IGL03013:Nup210	APN	6	91,030,361 (GRCm39)	missense	probably benign	0.00
IGL03046:Nup210	APN	6	90,995,978 (GRCm39)	splice site	probably benign
IGL03136:Nup210	APN	6	91,005,843 (GRCm39)	missense	probably benign	0.32
IGL03139:Nup210	APN	6	90,997,221 (GRCm39)	missense	probably benign	0.08
IGL03195:Nup210	APN	6	90,992,832 (GRCm39)	missense	probably benign	0.32
IGL03344:Nup210	APN	6	90,998,411 (GRCm39)	missense	possibly damaging	0.53
brotherhood	UTSW	6	91,013,451 (GRCm39)	missense	possibly damaging	0.81
equality	UTSW	6	90,998,377 (GRCm39)	critical splice donor site	probably null
fraternity	UTSW	6	91,019,235 (GRCm39)	critical splice donor site	probably null
Liberty	UTSW	6	90,997,162 (GRCm39)	missense	probably benign	0.04
napoleonic	UTSW	6	91,030,434 (GRCm39)	missense	probably damaging	1.00
unity	UTSW	6	91,008,650 (GRCm39)	nonsense	probably null
IGL03134:Nup210	UTSW	6	91,007,172 (GRCm39)	missense	probably damaging	0.99
PIT4810001:Nup210	UTSW	6	91,007,106 (GRCm39)	missense	probably damaging	1.00
R0100:Nup210	UTSW	6	91,046,175 (GRCm39)	missense	probably benign	0.04
R0348:Nup210	UTSW	6	91,051,292 (GRCm39)	missense	probably benign	0.27
R0385:Nup210	UTSW	6	91,005,777 (GRCm39)	missense	possibly damaging	0.77
R0551:Nup210	UTSW	6	90,998,466 (GRCm39)	missense	possibly damaging	0.85
R0606:Nup210	UTSW	6	91,003,911 (GRCm39)	missense	possibly damaging	0.89
R1053:Nup210	UTSW	6	91,005,793 (GRCm39)	missense	probably benign	0.41
R1301:Nup210	UTSW	6	91,019,329 (GRCm39)	missense	possibly damaging	0.47
R1381:Nup210	UTSW	6	91,052,942 (GRCm39)	missense	probably damaging	0.99
R1464:Nup210	UTSW	6	91,030,551 (GRCm39)	missense	possibly damaging	0.82
R1464:Nup210	UTSW	6	91,030,551 (GRCm39)	missense	possibly damaging	0.82
R1487:Nup210	UTSW	6	91,019,558 (GRCm39)	missense	probably damaging	1.00
R1522:Nup210	UTSW	6	91,046,148 (GRCm39)	missense	possibly damaging	0.85
R1529:Nup210	UTSW	6	91,013,358 (GRCm39)	missense	probably damaging	1.00
R1531:Nup210	UTSW	6	91,011,823 (GRCm39)	missense	probably benign	0.05
R1668:Nup210	UTSW	6	91,005,787 (GRCm39)	missense	possibly damaging	0.89
R1694:Nup210	UTSW	6	91,039,785 (GRCm39)	missense	probably benign	0.09
R1803:Nup210	UTSW	6	91,051,264 (GRCm39)	missense	probably damaging	0.99
R1851:Nup210	UTSW	6	90,993,036 (GRCm39)	missense	probably damaging	1.00
R2145:Nup210	UTSW	6	91,005,858 (GRCm39)	missense	possibly damaging	0.81
R2196:Nup210	UTSW	6	91,032,226 (GRCm39)	missense	probably benign	0.02
R2308:Nup210	UTSW	6	91,017,850 (GRCm39)	missense	probably benign	0.19
R2912:Nup210	UTSW	6	91,003,956 (GRCm39)	missense	probably damaging	1.00
R3413:Nup210	UTSW	6	91,002,224 (GRCm39)	missense	probably benign	0.00
R3718:Nup210	UTSW	6	90,997,162 (GRCm39)	missense	probably benign	0.04
R3753:Nup210	UTSW	6	90,998,377 (GRCm39)	critical splice donor site	probably null
R4058:Nup210	UTSW	6	91,037,602 (GRCm39)	missense	probably benign	0.02
R4840:Nup210	UTSW	6	91,008,650 (GRCm39)	nonsense	probably null
R4912:Nup210	UTSW	6	90,994,511 (GRCm39)	missense	probably benign	0.01
R4967:Nup210	UTSW	6	91,013,451 (GRCm39)	missense	possibly damaging	0.81
R4996:Nup210	UTSW	6	91,030,418 (GRCm39)	missense	probably benign	0.16
R5074:Nup210	UTSW	6	91,032,309 (GRCm39)	missense	probably benign	0.16
R5233:Nup210	UTSW	6	91,003,951 (GRCm39)	missense	probably damaging	1.00
R5352:Nup210	UTSW	6	91,046,298 (GRCm39)	missense	probably damaging	1.00
R5490:Nup210	UTSW	6	91,062,970 (GRCm39)	missense	probably damaging	0.98
R5511:Nup210	UTSW	6	91,003,945 (GRCm39)	missense	probably damaging	0.97
R5773:Nup210	UTSW	6	91,062,865 (GRCm39)	missense	probably damaging	0.96
R6064:Nup210	UTSW	6	91,032,273 (GRCm39)	missense	probably benign	0.01
R6209:Nup210	UTSW	6	91,002,337 (GRCm39)	missense	probably benign
R6299:Nup210	UTSW	6	91,051,270 (GRCm39)	missense	possibly damaging	0.68
R6705:Nup210	UTSW	6	91,064,942 (GRCm39)	missense	possibly damaging	0.50
R6855:Nup210	UTSW	6	91,017,835 (GRCm39)	missense	probably benign	0.13
R6856:Nup210	UTSW	6	91,064,895 (GRCm39)	nonsense	probably null
R6911:Nup210	UTSW	6	91,007,112 (GRCm39)	missense	probably damaging	0.98
R6955:Nup210	UTSW	6	91,064,909 (GRCm39)	missense	probably damaging	1.00
R7045:Nup210	UTSW	6	91,031,433 (GRCm39)	missense	probably damaging	1.00
R7081:Nup210	UTSW	6	91,037,647 (GRCm39)	missense	possibly damaging	0.50
R7163:Nup210	UTSW	6	91,050,313 (GRCm39)	missense	probably damaging	1.00
R7305:Nup210	UTSW	6	91,064,948 (GRCm39)	missense	probably damaging	1.00
R7387:Nup210	UTSW	6	90,998,378 (GRCm39)	critical splice donor site	probably null
R7404:Nup210	UTSW	6	91,050,227 (GRCm39)	missense	probably benign	0.01
R7469:Nup210	UTSW	6	90,995,874 (GRCm39)	missense	probably benign	0.08
R7603:Nup210	UTSW	6	91,053,679 (GRCm39)	missense	probably benign	0.00
R7731:Nup210	UTSW	6	91,048,870 (GRCm39)	missense	possibly damaging	0.50
R7822:Nup210	UTSW	6	90,995,759 (GRCm39)	missense	possibly damaging	0.71
R7944:Nup210	UTSW	6	91,050,179 (GRCm39)	missense	probably damaging	0.99
R8032:Nup210	UTSW	6	91,051,331 (GRCm39)	missense	probably benign	0.02
R8039:Nup210	UTSW	6	91,047,215 (GRCm39)	missense	probably benign	0.09
R8081:Nup210	UTSW	6	91,053,657 (GRCm39)	missense	probably benign	0.00
R8177:Nup210	UTSW	6	90,991,470 (GRCm39)	missense	probably benign
R8331:Nup210	UTSW	6	91,030,648 (GRCm39)	missense	possibly damaging	0.49
R8356:Nup210	UTSW	6	91,051,330 (GRCm39)	missense	probably benign	0.32
R8530:Nup210	UTSW	6	91,053,627 (GRCm39)	missense	possibly damaging	0.51
R8896:Nup210	UTSW	6	91,019,235 (GRCm39)	critical splice donor site	probably null
R8926:Nup210	UTSW	6	91,030,434 (GRCm39)	missense	probably damaging	1.00
R9093:Nup210	UTSW	6	91,066,872 (GRCm39)	missense	probably benign	0.16
R9130:Nup210	UTSW	6	91,020,799 (GRCm39)	missense	probably benign	0.08
R9136:Nup210	UTSW	6	91,020,830 (GRCm39)	missense	possibly damaging	0.53
R9260:Nup210	UTSW	6	91,039,785 (GRCm39)	missense	probably benign	0.09
R9292:Nup210	UTSW	6	91,051,235 (GRCm39)	missense	possibly damaging	0.81
R9444:Nup210	UTSW	6	91,048,885 (GRCm39)	missense	probably benign
R9482:Nup210	UTSW	6	91,019,608 (GRCm39)	missense	probably damaging	0.96
R9506:Nup210	UTSW	6	91,048,856 (GRCm39)	missense	possibly damaging	0.92
R9621:Nup210	UTSW	6	90,994,375 (GRCm39)	missense	probably benign	0.18
R9735:Nup210	UTSW	6	91,030,630 (GRCm39)	missense	probably benign	0.42
X0067:Nup210	UTSW	6	91,051,262 (GRCm39)	missense	probably damaging	1.00
Z1177:Nup210	UTSW	6	91,064,889 (GRCm39)	missense	possibly damaging	0.91
Z1177:Nup210	UTSW	6	90,997,167 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TATGACTCACAGGGACCAGG -3'
(R):5'- GCCCTCTCTAGCAGATTCTG -3'

Sequencing Primer
(F):5'- CACAAAGGCCACGGTGACTG -3'
(R):5'- CCTCTCTAGCAGATTCTGAATGTGG -3'

Posted On

2014-11-12