Mutagenetix > Incidental Mutation

Incidental Mutation 'R6955:Nup210'

541410

Institutional Source

Beutler Lab

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, gp210, Pom210

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6955 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90990050-91093811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91064909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 197 (E197G)

Ref Sequence

ENSEMBL: ENSMUSP00000109137 (fasta)

Gene Model

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

AlphaFold

Q9QY81

Predicted Effect

probably damaging
Transcript: ENSMUST00000032179
AA Change: E197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: E197G

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 damaging
Transcript: ENSMUST00000113509
AA Change: E197G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: E197G

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: 99.9%
10x: 99.4%
20x: 97.8%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,307 (GRCm39)	F2057I	probably benign	Het
Abl2	A	G	1: 156,450,219 (GRCm39)	T108A	probably damaging	Het
Amfr	A	T	8: 94,727,004 (GRCm39)	W70R	probably damaging	Het
Cacna1h	T	C	17: 25,607,030 (GRCm39)	T963A	probably damaging	Het
Cdca2	A	G	14: 67,952,453 (GRCm39)	M1T	probably null	Het
Chd2	A	G	7: 73,125,171 (GRCm39)	V62A	probably damaging	Het
Cpeb4	T	A	11: 31,858,864 (GRCm39)	L87Q	possibly damaging	Het
Ddx17	T	C	15: 79,414,668 (GRCm39)	M500V	probably benign	Het
Emilin1	T	C	5: 31,075,253 (GRCm39)	L498P	probably damaging	Het
Fhod1	C	T	8: 106,059,639 (GRCm39)	C682Y	probably benign	Het
Fshr	A	T	17: 89,292,894 (GRCm39)	S595T	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Inf2	T	C	12: 112,577,165 (GRCm39)	V1003A	unknown	Het
Itpr3	A	G	17: 27,340,441 (GRCm39)	E2651G	probably damaging	Het
Kalrn	A	G	16: 34,040,506 (GRCm39)	W735R	probably damaging	Het
Kif5b	T	C	18: 6,211,070 (GRCm39)	N798S	probably benign	Het
Klb	T	A	5: 65,536,431 (GRCm39)	L587*	probably null	Het
Krt82	T	A	15: 101,451,284 (GRCm39)	D375V	probably damaging	Het
Lig4	A	T	8: 10,023,384 (GRCm39)	V132D	probably damaging	Het
Lrpprc	T	C	17: 85,084,417 (GRCm39)	I99V	probably damaging	Het
Ly75	T	C	2: 60,158,217 (GRCm39)	I1023V	possibly damaging	Het
Mcam	T	A	9: 44,050,566 (GRCm39)	I286N	probably damaging	Het
Myh15	G	T	16: 48,901,598 (GRCm39)		probably null	Het
Nup93	T	A	8: 95,036,301 (GRCm39)	Y702N	probably damaging	Het
Or4p4	T	A	2: 88,483,348 (GRCm39)	I284N	probably damaging	Het
Osbpl8	T	C	10: 111,105,305 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,401,550 (GRCm39)	S767P	probably damaging	Het
Plcd1	A	T	9: 118,900,924 (GRCm39)	N765K	probably benign	Het
Poglut2	A	T	1: 44,156,257 (GRCm39)	L110Q	probably damaging	Het
Rnf208	T	C	2: 25,133,414 (GRCm39)	V36A	probably benign	Het
Rpl5	G	A	5: 108,049,912 (GRCm39)	R33Q	probably benign	Het
Selp	A	T	1: 163,972,478 (GRCm39)	I706F	possibly damaging	Het
Sfmbt1	A	G	14: 30,487,991 (GRCm39)		probably benign	Het
Slc25a39	T	C	11: 102,294,344 (GRCm39)	I328V	probably benign	Het
Smc4	G	A	3: 68,931,642 (GRCm39)	E604K	possibly damaging	Het
Sorcs3	A	G	19: 48,737,782 (GRCm39)	Y733C	possibly damaging	Het
Ttll5	T	C	12: 85,911,353 (GRCm39)	V237A	possibly damaging	Het
Uimc1	T	A	13: 55,188,359 (GRCm39)	R567W	possibly damaging	Het
Wbp4	A	T	14: 79,709,800 (GRCm39)	I145N	probably benign	Het
Xbp1	A	G	11: 5,472,018 (GRCm39)	E32G	probably null	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
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'- CTGACTTCTGGAGCCTTAGC -3'
(R):5'- AACATCCCTTATTCTGGGGTC -3'

Sequencing Primer
(F):5'- TCTGGAGCCTTAGCCCTGC -3'
(R):5'- GTCCAGCCCTCAGTAGTAGAC -3'

Posted On

2018-11-28