Mutagenetix > Incidental Mutation

Incidental Mutation 'R6855:Nup210'

535196

Institutional Source

Beutler Lab

Gene Symbol

Nup210

Ensembl Gene

ENSMUSG00000030091

Gene Name

nucleoporin 210

Synonyms

gp190, gp210, Pom210

MMRRC Submission

045024-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6855 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90990050-91093811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91017835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1052 (M1052V)

Ref Sequence

ENSEMBL: ENSMUSP00000109137 (fasta)

Gene Model

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

AlphaFold

Q9QY81

Predicted Effect

probably benign
Transcript: ENSMUST00000032179
AA Change: M1096V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000032179
Gene: ENSMUSG00000030091
AA Change: M1096V

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: M1052V

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109137
Gene: ENSMUSG00000030091
AA Change: M1052V

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

probably benign
Transcript: ENSMUST00000142951
AA Change: M309V

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000120098
Gene: ENSMUSG00000030091
AA Change: M309V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (57/57)

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
Aass	G	A	6: 23,114,844 (GRCm39)	S228F	probably damaging	Het
Cdh23	A	T	10: 60,141,901 (GRCm39)	M3062K	possibly damaging	Het
Cdh8	G	C	8: 99,916,849 (GRCm39)	S422C	probably damaging	Het
Col15a1	G	T	4: 47,245,544 (GRCm39)	K98N	probably damaging	Het
Cyp3a57	T	A	5: 145,309,376 (GRCm39)	L238H	probably damaging	Het
Dchs2	G	A	3: 83,255,501 (GRCm39)	R2399H	probably benign	Het
Dennd4c	A	C	4: 86,754,694 (GRCm39)	H1568P	probably benign	Het
Dkk2	T	G	3: 131,883,683 (GRCm39)	C194W	probably damaging	Het
Dnm2	C	T	9: 21,387,881 (GRCm39)	R369C	probably damaging	Het
Efcab7	T	G	4: 99,757,777 (GRCm39)	L308*	probably null	Het
Elp2	T	A	18: 24,739,934 (GRCm39)	N53K	possibly damaging	Het
Eml6	T	C	11: 29,701,381 (GRCm39)		probably null	Het
Erich3	G	T	3: 154,468,286 (GRCm39)	E913*	probably null	Het
Fam186a	T	A	15: 99,852,756 (GRCm39)	Y154F	unknown	Het
Fhl3	G	A	4: 124,601,315 (GRCm39)	D113N	probably benign	Het
Fryl	A	T	5: 73,216,843 (GRCm39)	M2149K	probably damaging	Het
Gbf1	T	C	19: 46,268,380 (GRCm39)	Y1251H	probably benign	Het
Ghitm	C	A	14: 36,847,859 (GRCm39)	G262W	probably null	Het
Gm14325	T	A	2: 177,474,635 (GRCm39)	H148L	probably damaging	Het
Grxcr1	C	A	5: 68,189,437 (GRCm39)	N69K	possibly damaging	Het
Itprid2	C	T	2: 79,488,049 (GRCm39)	R711C	probably damaging	Het
Kcnma1	A	G	14: 23,417,679 (GRCm39)	I846T	probably damaging	Het
Lama1	A	G	17: 68,089,150 (GRCm39)	Y1607C	possibly damaging	Het
Lrp1b	G	C	2: 40,518,708 (GRCm39)	H175D	possibly damaging	Het
Lrrc2	T	A	9: 110,782,250 (GRCm39)		probably null	Het
Mpp3	A	G	11: 101,904,151 (GRCm39)	F291L	probably benign	Het
Nek7	C	T	1: 138,443,420 (GRCm39)	G178R	probably damaging	Het
Nfil3	T	A	13: 53,122,641 (GRCm39)	K88*	probably null	Het
Nit1	A	C	1: 171,171,130 (GRCm39)	V194G	probably damaging	Het
Nup210l	A	G	3: 90,044,231 (GRCm39)	T511A	probably benign	Het
Nwd2	G	T	5: 63,961,794 (GRCm39)	M459I	probably benign	Het
Or8k31-ps1	T	C	2: 86,356,513 (GRCm39)	N3D	probably benign	Het
Peg3	A	C	7: 6,711,797 (GRCm39)	S1142A	probably benign	Het
Phf3	T	A	1: 30,859,204 (GRCm39)	K959N	probably damaging	Het
Piezo2	C	T	18: 63,223,950 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,764,036 (GRCm39)	I365V	possibly damaging	Het
Plec	T	A	15: 76,070,818 (GRCm39)	Q860L	probably damaging	Het
Poglut2	C	A	1: 44,149,987 (GRCm39)	E401*	probably null	Het
Ppp5c	T	G	7: 16,740,891 (GRCm39)	D359A	possibly damaging	Het
Pvr	C	T	7: 19,643,139 (GRCm39)	A365T	possibly damaging	Het
Pygm	G	T	19: 6,443,787 (GRCm39)	G583C	probably damaging	Het
Rasa3	A	T	8: 13,635,029 (GRCm39)	L430Q	probably damaging	Het
Rims2	T	G	15: 39,208,911 (GRCm39)	V198G	probably benign	Het
Rnf38	C	T	4: 44,149,224 (GRCm39)	R41H	probably damaging	Het
Rptn	G	A	3: 93,305,558 (GRCm39)	V964I	probably benign	Het
Rrp1b	A	G	17: 32,271,719 (GRCm39)	D263G	probably benign	Het
Sgip1	T	C	4: 102,819,573 (GRCm39)	C560R	probably damaging	Het
Shisal2b	T	C	13: 105,000,214 (GRCm39)	Q3R	probably benign	Het
Sidt1	A	C	16: 44,065,706 (GRCm39)	I734S	probably null	Het
Ssh1	G	T	5: 114,080,636 (GRCm39)	D931E	probably damaging	Het
Thumpd2	C	A	17: 81,351,599 (GRCm39)	R274I	probably damaging	Het
Tpi1	T	C	6: 124,789,426 (GRCm39)	D183G	probably damaging	Het
Trnt1	T	A	6: 106,754,883 (GRCm39)	Y205N	probably damaging	Het
Tsc22d2	G	A	3: 58,324,235 (GRCm39)	V376M	probably damaging	Het
Usp34	T	C	11: 23,402,569 (GRCm39)	V2454A	possibly damaging	Het
Uspl1	C	A	5: 149,124,655 (GRCm39)	S24Y	probably damaging	Het
Vmn1r58	A	C	7: 5,413,451 (GRCm39)	W260G	possibly damaging	Het
Vmn2r62	T	A	7: 42,438,412 (GRCm39)	L141F	probably benign	Het
Zfp868	A	C	8: 70,064,230 (GRCm39)	H368Q	probably damaging	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
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'- GCCACACTCTCATTGTTGATG -3'
(R):5'- ATAGGTTTCTCAAGCACTGTGTG -3'

Sequencing Primer
(F):5'- CCACACTCTCATTGTTGATGGAGAAG -3'
(R):5'- TCAAGCACTGTGTGGTACC -3'

Posted On

2018-09-12