Mutagenetix > Incidental Mutation

Incidental Mutation 'R8530:Nup210'

658987

Institutional Source

Beutler Lab

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, gp210, Pom210

MMRRC Submission

068500-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8530 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90990050-91093811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 91053627 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Proline at position 297 (A297P)

Ref Sequence

ENSEMBL: ENSMUSP00000032179 (fasta)

Gene Model

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

AlphaFold

Q9QY81

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032179
AA Change: A297P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: A297P

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
AA Change: A297P

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: A297P

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

Coding Region Coverage

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

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	C	3: 137,774,586 (GRCm39)	E1258D	probably damaging	Het
4930407I10Rik	T	A	15: 81,949,587 (GRCm39)	H1161Q	probably damaging	Het
Adam20	A	G	8: 41,249,071 (GRCm39)	S394G	probably damaging	Het
Akr1c12	A	T	13: 4,320,160 (GRCm39)	F310Y	probably benign	Het
Ank	G	A	15: 27,544,490 (GRCm39)	A84T	probably benign	Het
Bcas1	A	T	2: 170,229,868 (GRCm39)	I244K	probably damaging	Het
Cacna1a	T	C	8: 85,339,043 (GRCm39)		probably null	Het
Car14	T	C	3: 95,807,670 (GRCm39)	H79R	probably benign	Het
Cd163	T	C	6: 124,295,860 (GRCm39)	Y735H	probably damaging	Het
Cdh11	G	A	8: 103,391,387 (GRCm39)	P283L	probably benign	Het
Cfi	C	T	3: 129,644,382 (GRCm39)	T126I	possibly damaging	Het
Col6a4	T	A	9: 105,957,704 (GRCm39)	H40L	probably benign	Het
Dbh	A	G	2: 27,058,318 (GRCm39)	D162G	probably damaging	Het
Dnah14	A	G	1: 181,492,511 (GRCm39)	K1657R	probably damaging	Het
E2f7	T	A	10: 110,614,859 (GRCm39)	V521D	probably benign	Het
Eif3g	A	C	9: 20,809,026 (GRCm39)	S93A	possibly damaging	Het
Fa2h	T	C	8: 112,082,788 (GRCm39)	E143G	probably benign	Het
Foxc1	C	A	13: 31,991,771 (GRCm39)	P194Q	probably benign	Het
Fyco1	A	G	9: 123,669,605 (GRCm39)		probably null	Het
Gabrb3	T	C	7: 57,461,819 (GRCm39)	S256P	probably damaging	Het
Gcc1	C	A	6: 28,420,730 (GRCm39)	D196Y	probably damaging	Het
Herc1	T	A	9: 66,325,910 (GRCm39)	D1461E	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hps6	A	T	19: 45,991,959 (GRCm39)		probably benign	Het
Macc1	A	T	12: 119,409,474 (GRCm39)	I81F	probably damaging	Het
Man2c1	G	T	9: 57,038,922 (GRCm39)	D111Y	probably damaging	Het
Mast3	A	T	8: 71,240,877 (GRCm39)	I240N	possibly damaging	Het
Matn1	A	T	4: 130,677,447 (GRCm39)	K219*	probably null	Het
Or5d43	A	T	2: 88,105,154 (GRCm39)	L80I	probably damaging	Het
Or6d12	T	A	6: 116,493,530 (GRCm39)	I264K	probably damaging	Het
Pcare	T	C	17: 72,059,101 (GRCm39)	Y192C	probably damaging	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Phactr3	A	G	2: 177,925,819 (GRCm39)	N360D	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Potefam3a	T	C	8: 20,356,984 (GRCm38)	N242S	probably benign	Het
Qtrt2	C	A	16: 43,689,407 (GRCm39)	G197V	probably damaging	Het
Rabep1	A	T	11: 70,810,068 (GRCm39)	L500F	probably damaging	Het
Rhof	T	A	5: 123,257,581 (GRCm39)	D183V	probably damaging	Het
Shprh	T	C	10: 11,027,678 (GRCm39)	V95A	probably benign	Het
Spata31d1b	A	T	13: 59,864,964 (GRCm39)	N704I	unknown	Het
Tas1r2	A	T	4: 139,389,460 (GRCm39)	Y452F	probably benign	Het
Tc2n	A	T	12: 101,617,444 (GRCm39)	F325Y	possibly damaging	Het
Tiam2	G	T	17: 3,501,087 (GRCm39)	V909L	probably benign	Het
Tlx1	A	T	19: 45,139,524 (GRCm39)	Y57F	probably benign	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn2r58	A	T	7: 41,513,576 (GRCm39)	W356R	probably damaging	Het
Wars1	G	A	12: 108,848,818 (GRCm39)	A43V	probably damaging	Het
Wrn	A	T	8: 33,770,852 (GRCm39)	I694N	possibly damaging	Het
Zfp120	A	G	2: 149,959,168 (GRCm39)	Y385H	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
R2419:Nup210	UTSW	6	90,994,538 (GRCm39)	splice site	probably benign
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
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'- AGTCCTGGCTGGCTTTAAGG -3'
(R):5'- GAAGAGCTTGCTCACTTCGG -3'

Sequencing Primer
(F):5'- TTAAGGGAGAAAAACAACTTGGCTTC -3'
(R):5'- ATGGTCAGGTGTTCACCAC -3'

Posted On

2021-01-18