Mutagenetix > Incidental Mutation

Incidental Mutation 'R5352:Nup210'

423835

Institutional Source

Beutler Lab

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, gp210, Pom210

MMRRC Submission

042931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90990050-91093811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91046298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 545 (V545E)

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: V545E

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

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: V545E

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: V545E

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

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: V545E

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: ENSMUST00000151437

Meta Mutation Damage Score

0.4826

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (66/66)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	T	G	16: 14,436,565 (GRCm39)	L206*	probably null	Het
Adgrv1	T	C	13: 81,642,776 (GRCm39)	Y3218C	probably damaging	Het
Agtpbp1	G	A	13: 59,621,560 (GRCm39)	T41M	probably damaging	Het
Akap6	A	T	12: 52,842,880 (GRCm39)	E76V	probably damaging	Het
Ank2	C	A	3: 127,292,640 (GRCm39)		probably benign	Het
Atp6ap1l	A	C	13: 91,031,875 (GRCm39)	L269R	probably damaging	Het
Blk	A	G	14: 63,613,420 (GRCm39)	S363P	probably damaging	Het
Bltp3a	G	A	17: 28,106,489 (GRCm39)	S1005N	probably benign	Het
Btnl9	T	C	11: 49,069,667 (GRCm39)	N204S	probably benign	Het
Cc2d2a	G	T	5: 43,863,555 (GRCm39)	W672C	probably damaging	Het
Ccnf	A	G	17: 24,462,247 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Chst1	A	G	2: 92,443,710 (GRCm39)	T61A	possibly damaging	Het
Col6a4	G	A	9: 105,938,743 (GRCm39)	T1325I	probably damaging	Het
Col7a1	A	C	9: 108,790,479 (GRCm39)	T976P	unknown	Het
Corin	C	T	5: 72,462,376 (GRCm39)	S811N	probably benign	Het
Dnal1	T	C	12: 84,183,322 (GRCm39)	V27A	possibly damaging	Het
Dusp29	G	A	14: 21,727,091 (GRCm39)	R186W	probably benign	Het
F830045P16Rik	T	A	2: 129,314,821 (GRCm39)	H152L	probably damaging	Het
Flnc	A	G	6: 29,449,317 (GRCm39)	S1405G	possibly damaging	Het
Foxj1	T	C	11: 116,224,905 (GRCm39)	N154S	possibly damaging	Het
Gm12183	T	C	11: 48,642,989 (GRCm39)		noncoding transcript	Het
Gm27047	G	A	6: 130,607,982 (GRCm39)		noncoding transcript	Het
Grm5	A	G	7: 87,724,058 (GRCm39)	I783V	probably damaging	Het
Hk1	A	T	10: 62,140,549 (GRCm39)	S113T	probably damaging	Het
Iqca1	A	T	1: 90,057,918 (GRCm39)	N260K	probably benign	Het
Iws1	A	T	18: 32,216,457 (GRCm39)	K399M	probably damaging	Het
Kdm4d	A	G	9: 14,375,654 (GRCm39)	I68T	probably damaging	Het
Man2a1	T	C	17: 65,038,241 (GRCm39)	I75T	probably damaging	Het
Med13	T	A	11: 86,192,294 (GRCm39)	I824L	possibly damaging	Het
Meioc	A	T	11: 102,566,139 (GRCm39)	E585V	probably benign	Het
Mrgpre	A	C	7: 143,334,831 (GRCm39)	F224C	probably damaging	Het
Muc5b	T	A	7: 141,418,295 (GRCm39)	F3747Y	possibly damaging	Het
Nherf2	C	T	17: 24,861,229 (GRCm39)	R66H	probably damaging	Het
Nlrp4e	T	C	7: 23,052,598 (GRCm39)	V839A	probably benign	Het
Ola1	T	C	2: 72,929,674 (GRCm39)	T310A	probably damaging	Het
Pdxdc1	T	C	16: 13,658,175 (GRCm39)	N516S	probably benign	Het
Phlpp1	A	G	1: 106,100,455 (GRCm39)	D241G	probably benign	Het
Ppp1r36	T	C	12: 76,474,857 (GRCm39)	V85A	probably damaging	Het
Rasa3	A	C	8: 13,681,778 (GRCm39)	L57R	possibly damaging	Het
Rp1	T	C	1: 4,417,321 (GRCm39)	S1264G	probably benign	Het
Rprd1b	A	G	2: 157,900,656 (GRCm39)	E247G	probably damaging	Het
Sag	G	T	1: 87,740,715 (GRCm39)	V46L	probably benign	Het
Sat2	A	T	11: 69,513,141 (GRCm39)	I17F	probably damaging	Het
Slc39a6	A	T	18: 24,734,093 (GRCm39)	Y199N	probably benign	Het
Snx2	A	G	18: 53,330,997 (GRCm39)		probably null	Het
Thbs4	T	C	13: 92,900,098 (GRCm39)	D466G	probably damaging	Het
Tmem208	A	G	8: 106,055,063 (GRCm39)	D91G	probably damaging	Het
Tmf1	A	G	6: 97,153,770 (GRCm39)	L101P	probably damaging	Het
Tnni1	A	G	1: 135,733,330 (GRCm39)	T51A	probably benign	Het
Tor3a	T	G	1: 156,501,763 (GRCm39)	E38A	probably damaging	Het
Trim31	T	A	17: 37,210,810 (GRCm39)	D147E	possibly damaging	Het
Vmn1r48	G	T	6: 90,013,129 (GRCm39)	A232E	probably benign	Het
Vmn1r89	T	G	7: 12,953,284 (GRCm39)	F7V	probably benign	Het
Zfp160	A	G	17: 21,247,114 (GRCm39)	T555A	probably benign	Het
Zfp981	C	A	4: 146,621,462 (GRCm39)	T129K	probably benign	Het
Zfpm2	T	A	15: 40,733,938 (GRCm39)	F106I	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
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'- CTGCTACTGGTTTACCTGGC -3'
(R):5'- GAACCTATCAGGCCTGACAGAG -3'

Sequencing Primer
(F):5'- TTACCTGGCAATGGCTGGAAC -3'
(R):5'- GGAAGTGCAACTACCCACTGTTG -3'

Posted On

2016-08-04