Mutagenetix > Incidental Mutation

Incidental Mutation 'R9287:Nup188'

703968

Institutional Source

Beutler Lab

Gene Symbol

Nup188

Ensembl Gene

ENSMUSG00000052533

Gene Name

nucleoporin 188

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R9287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30176419-30234278 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30226726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 1168 (R1168C)

Ref Sequence

ENSEMBL: ENSMUSP00000065836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064447]

AlphaFold

Q6ZQH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000064447
AA Change: R1168C

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065836
Gene: ENSMUSG00000052533
AA Change: R1168C

Domain	Start	End	E-Value	Type
Pfam:Nup188	31	941	9.3e-213	PFAM
low complexity region	1020	1035	N/A	INTRINSIC
low complexity region	1307	1320	N/A	INTRINSIC
low complexity region	1330	1360	N/A	INTRINSIC
low complexity region	1696	1709	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (109/109)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approximately 30 distinct proteins collectively known as nucleoporins. Nucleoporins are pore-complex-specific glycoproteins which often have cytoplasmically oriented O-linked N-acetylglucosamine residues and numerous repeats of the pentapeptide sequence XFXFG. However, the nucleoporin protein encoded by this gene does not contain the typical FG repeat sequences found in most vertebrate nucleoporins. This nucleoporin is thought to form part of the scaffold for the central channel of the nuclear pore. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	A	2: 32,465,178 (GRCm39)		probably benign	Het
Aadacl2	C	A	3: 59,932,573 (GRCm39)	H363N	probably damaging	Het
Ace3	T	G	11: 105,888,246 (GRCm39)	S319A	probably damaging	Het
Amer3	C	T	1: 34,627,900 (GRCm39)	P713L	possibly damaging	Het
Aoah	T	C	13: 21,186,879 (GRCm39)	L453P	probably damaging	Het
Asz1	A	T	6: 18,051,290 (GRCm39)	L463Q	possibly damaging	Het
Bpifb6	T	A	2: 153,746,535 (GRCm39)	V143D	probably damaging	Het
Cad	T	A	5: 31,230,000 (GRCm39)	M1499K	possibly damaging	Het
Casp9	T	A	4: 141,534,471 (GRCm39)	C294S	probably benign	Het
Ccdc7b	T	A	8: 129,890,321 (GRCm39)	S65T	probably benign	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Cfap54	T	C	10: 92,805,565 (GRCm39)	Y1515C	possibly damaging	Het
Chrm5	A	C	2: 112,309,610 (GRCm39)	F502C	probably damaging	Het
Cnst	A	T	1: 179,407,108 (GRCm39)	T52S	possibly damaging	Het
Cntn6	T	C	6: 104,809,471 (GRCm39)	I502T	possibly damaging	Het
Col7a1	G	A	9: 108,787,457 (GRCm39)	V617M	unknown	Het
Ctsb	A	G	14: 63,370,875 (GRCm39)	D29G	probably benign	Het
Cyp3a44	T	A	5: 145,725,202 (GRCm39)	Q333L	possibly damaging	Het
Dnajc27	T	C	12: 4,146,256 (GRCm39)	V95A	possibly damaging	Het
Eea1	T	A	10: 95,831,445 (GRCm39)	Y179N	probably damaging	Het
Erbb2	T	C	11: 98,326,107 (GRCm39)	M961T	probably damaging	Het
Fat4	G	A	3: 38,945,781 (GRCm39)	G1558D	probably damaging	Het
Foxh1	T	C	15: 76,553,126 (GRCm39)	E196G	probably damaging	Het
Gcc2	T	A	10: 58,105,217 (GRCm39)	L151*	probably null	Het
Gcdh	C	T	8: 85,616,313 (GRCm39)	G294D	probably damaging	Het
Gcnt3	A	T	9: 69,941,693 (GRCm39)	F292I	probably damaging	Het
Glod4	T	C	11: 76,128,510 (GRCm39)	S131G	probably benign	Het
Gpc2	G	A	5: 138,272,586 (GRCm39)	L576F	unknown	Het
Gphn	G	A	12: 78,609,646 (GRCm39)	S330N	possibly damaging	Het
Heatr5a	C	T	12: 51,967,260 (GRCm39)	C872Y	probably damaging	Het
Hephl1	G	A	9: 14,995,775 (GRCm39)	S449L	probably benign	Het
Hrh2	G	T	13: 54,368,358 (GRCm39)	M111I	probably benign	Het
Igfn1	A	G	1: 135,925,544 (GRCm39)	V70A	probably benign	Het
Il2	G	A	3: 37,179,988 (GRCm39)	T23I	probably damaging	Het
Irak4	A	G	15: 94,460,917 (GRCm39)	T382A	possibly damaging	Het
Itih2	A	G	2: 10,128,297 (GRCm39)	S135P	possibly damaging	Het
Kansl3	C	T	1: 36,388,497 (GRCm39)	D457N	probably damaging	Het
Kcns3	A	G	12: 11,141,601 (GRCm39)	I366T	probably damaging	Het
Kif26a	C	A	12: 112,145,719 (GRCm39)	Y1743*	probably null	Het
Lama4	A	T	10: 38,981,960 (GRCm39)	I1730F	probably damaging	Het
Lax1	T	C	1: 133,607,931 (GRCm39)	N270S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp6	A	G	6: 134,483,259 (GRCm39)	V482A	probably benign	Het
Luzp2	A	G	7: 54,914,108 (GRCm39)		probably benign	Het
Mc5r	C	A	18: 68,472,200 (GRCm39)	D186E	probably damaging	Het
Mcph1	A	T	8: 18,657,293 (GRCm39)		probably null	Het
Mgam	A	G	6: 40,705,905 (GRCm39)		probably benign	Het
Mmrn1	A	C	6: 60,952,939 (GRCm39)	T407P	probably damaging	Het
Mrpl1	T	C	5: 96,386,806 (GRCm39)	V265A	probably benign	Het
Mrpl15	C	T	1: 4,846,856 (GRCm39)	G240D	probably damaging	Het
Msx1	A	T	5: 37,978,795 (GRCm39)	M240K	probably damaging	Het
Mtf1	T	C	4: 124,724,934 (GRCm39)	L337P	probably damaging	Het
Muc5ac	T	A	7: 141,361,626 (GRCm39)	C1646S	probably damaging	Het
Mvb12a	C	A	8: 71,999,638 (GRCm39)	T219N	probably damaging	Het
Myo16	G	A	8: 10,526,114 (GRCm39)	V885M	unknown	Het
N4bp2	T	A	5: 65,960,855 (GRCm39)	S509T	probably benign	Het
Nckap1	A	G	2: 80,383,750 (GRCm39)	V144A	possibly damaging	Het
Nkx2-6	G	T	14: 69,412,404 (GRCm39)	G191C	possibly damaging	Het
Nmnat2	T	C	1: 152,962,138 (GRCm39)	I126T	probably damaging	Het
Nrp2	C	T	1: 62,835,014 (GRCm39)	R863W	probably damaging	Het
Oas3	T	A	5: 120,892,754 (GRCm39)	D1091V	probably damaging	Het
Optn	T	A	2: 5,036,126 (GRCm39)	Q452L	probably damaging	Het
Or8b47	C	T	9: 38,435,082 (GRCm39)	T18I	probably damaging	Het
Pcca	G	A	14: 122,854,178 (GRCm39)	V157I	probably benign	Het
Pcdha9	A	G	18: 37,132,281 (GRCm39)	D450G	probably benign	Het
Pcnx1	T	A	12: 82,042,323 (GRCm39)	S38T	probably benign	Het
Phrf1	C	G	7: 140,840,055 (GRCm39)	D1083E	probably benign	Het
Plaat5	T	A	19: 7,596,691 (GRCm39)	Y159*	probably null	Het
Plcb4	G	A	2: 135,829,817 (GRCm39)	A947T	probably benign	Het
Ppp1r3g	G	A	13: 36,152,834 (GRCm39)	D85N	possibly damaging	Het
Pramel34	G	A	5: 93,785,969 (GRCm39)	H104Y	possibly damaging	Het
Prom2	A	C	2: 127,380,185 (GRCm39)	V349G	probably damaging	Het
Prrc2c	C	T	1: 162,541,843 (GRCm39)	S382N	probably benign	Het
Rai14	A	T	15: 10,592,204 (GRCm39)	N230K	probably benign	Het
Rexo5	A	T	7: 119,402,025 (GRCm39)	K142I	probably damaging	Het
Rgs22	T	C	15: 36,098,409 (GRCm39)	H484R	probably damaging	Het
Rims2	C	T	15: 39,543,086 (GRCm39)	A1440V	probably damaging	Het
Serpinb1a	T	C	13: 33,026,946 (GRCm39)	E332G	probably damaging	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc26a7	C	T	4: 14,516,165 (GRCm39)	G555S	possibly damaging	Het
Slc4a2	A	T	5: 24,639,123 (GRCm39)	D386V	probably damaging	Het
Slc6a17	C	T	3: 107,384,551 (GRCm39)	V350M	probably damaging	Het
Smc2	A	G	4: 52,449,361 (GRCm39)	Y174C	probably damaging	Het
Smoc2	A	G	17: 14,619,686 (GRCm39)	Y355C	probably damaging	Het
Smpd1	T	A	7: 105,204,442 (GRCm39)	V107E	probably benign	Het
Snapc1	T	C	12: 74,018,773 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,722,426 (GRCm39)	D918G	possibly damaging	Het
Steap4	T	G	5: 8,026,683 (GRCm39)	F215L	probably benign	Het
Tbc1d1	T	A	5: 64,435,364 (GRCm39)	S501T	probably damaging	Het
Tec	A	G	5: 72,926,117 (GRCm39)	Y312H	probably damaging	Het
Ticrr	C	A	7: 79,343,516 (GRCm39)	T1127K	possibly damaging	Het
Tlk2	A	G	11: 105,147,722 (GRCm39)	D438G	probably benign	Het
Tln2	C	A	9: 67,277,980 (GRCm39)	V343L	probably benign	Het
Tmem156	T	A	5: 65,231,148 (GRCm39)	I241F	probably damaging	Het
Tmtc1	G	T	6: 148,186,390 (GRCm39)	N559K	probably benign	Het
Trbv4	A	T	6: 41,036,696 (GRCm39)	I74F	probably benign	Het
Trmt1l	C	T	1: 151,328,899 (GRCm39)	P524S	probably damaging	Het
Trpa1	A	T	1: 14,956,040 (GRCm39)	C776*	probably null	Het
Ttc41	T	A	10: 86,599,830 (GRCm39)	S1043R	probably benign	Het
Ttn	A	G	2: 76,576,646 (GRCm39)	L24749S	probably damaging	Het
Ube2o	C	T	11: 116,471,942 (GRCm39)	G100R	probably damaging	Het
Unc5b	T	C	10: 60,609,532 (GRCm39)	E588G	possibly damaging	Het
Usp43	G	T	11: 67,770,922 (GRCm39)	Q571K	probably damaging	Het
Vmn1r127	G	A	7: 21,052,927 (GRCm39)	P287L	possibly damaging	Het
Wasf3	T	A	5: 146,397,857 (GRCm39)	M208K	possibly damaging	Het
Xab2	A	G	8: 3,663,000 (GRCm39)	F527S	possibly damaging	Het
Zfp644	T	G	5: 106,785,774 (GRCm39)	N258H	possibly damaging	Het
Zfp947	A	C	17: 22,364,594 (GRCm39)	F360C	probably damaging	Het

Other mutations in Nup188

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00908:Nup188	APN	2	30,223,412 (GRCm39)	missense	probably damaging	0.98
IGL01599:Nup188	APN	2	30,217,537 (GRCm39)	missense	possibly damaging	0.92
IGL01938:Nup188	APN	2	30,219,371 (GRCm39)	missense	probably benign
IGL01973:Nup188	APN	2	30,229,862 (GRCm39)	missense	possibly damaging	0.95
IGL02157:Nup188	APN	2	30,219,385 (GRCm39)	nonsense	probably null
IGL02221:Nup188	APN	2	30,220,653 (GRCm39)	missense	possibly damaging	0.75
IGL02277:Nup188	APN	2	30,216,523 (GRCm39)	missense	possibly damaging	0.95
IGL02335:Nup188	APN	2	30,213,648 (GRCm39)	critical splice donor site	probably null
IGL02986:Nup188	APN	2	30,197,645 (GRCm39)	splice site	probably null
IGL03029:Nup188	APN	2	30,212,592 (GRCm39)	splice site	probably benign
IGL03194:Nup188	APN	2	30,194,346 (GRCm39)	missense	possibly damaging	0.95
IGL03370:Nup188	APN	2	30,230,653 (GRCm39)	missense	possibly damaging	0.52
core	UTSW	2	30,229,906 (GRCm39)	missense	probably damaging	1.00
kern	UTSW	2	30,227,045 (GRCm39)	missense	possibly damaging	0.94
P0027:Nup188	UTSW	2	30,212,693 (GRCm39)	missense	probably damaging	0.99
R0006:Nup188	UTSW	2	30,212,035 (GRCm39)	missense	probably benign	0.27
R0360:Nup188	UTSW	2	30,216,491 (GRCm39)	missense	probably null	0.93
R0373:Nup188	UTSW	2	30,221,000 (GRCm39)	missense	probably damaging	1.00
R0645:Nup188	UTSW	2	30,233,478 (GRCm39)	splice site	probably null
R1411:Nup188	UTSW	2	30,233,807 (GRCm39)	missense	probably benign	0.01
R1670:Nup188	UTSW	2	30,230,667 (GRCm39)	missense	probably benign	0.19
R2034:Nup188	UTSW	2	30,200,097 (GRCm39)	unclassified	probably benign
R2113:Nup188	UTSW	2	30,194,113 (GRCm39)	nonsense	probably null
R2142:Nup188	UTSW	2	30,226,718 (GRCm39)	missense	possibly damaging	0.49
R2221:Nup188	UTSW	2	30,226,936 (GRCm39)	splice site	probably benign
R2567:Nup188	UTSW	2	30,231,794 (GRCm39)	missense	possibly damaging	0.53
R2964:Nup188	UTSW	2	30,215,358 (GRCm39)	missense	probably damaging	0.98
R4006:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4007:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4079:Nup188	UTSW	2	30,199,890 (GRCm39)	missense	probably damaging	0.99
R4480:Nup188	UTSW	2	30,212,141 (GRCm39)	intron	probably benign
R4628:Nup188	UTSW	2	30,219,358 (GRCm39)	missense	probably damaging	1.00
R4687:Nup188	UTSW	2	30,220,645 (GRCm39)	missense	probably benign	0.01
R4814:Nup188	UTSW	2	30,216,523 (GRCm39)	missense	possibly damaging	0.95
R4834:Nup188	UTSW	2	30,229,596 (GRCm39)	missense	probably damaging	1.00
R5038:Nup188	UTSW	2	30,199,232 (GRCm39)	missense	probably damaging	0.98
R5056:Nup188	UTSW	2	30,194,143 (GRCm39)	missense	probably damaging	0.98
R5124:Nup188	UTSW	2	30,220,947 (GRCm39)	missense	probably damaging	1.00
R5256:Nup188	UTSW	2	30,220,761 (GRCm39)	missense	probably damaging	1.00
R5284:Nup188	UTSW	2	30,220,647 (GRCm39)	missense	probably damaging	1.00
R5548:Nup188	UTSW	2	30,216,505 (GRCm39)	missense	probably damaging	0.99
R5560:Nup188	UTSW	2	30,199,897 (GRCm39)	missense	probably damaging	0.99
R5668:Nup188	UTSW	2	30,226,336 (GRCm39)	missense	probably damaging	1.00
R5769:Nup188	UTSW	2	30,220,747 (GRCm39)	missense	probably benign	0.34
R5773:Nup188	UTSW	2	30,212,208 (GRCm39)	missense	possibly damaging	0.92
R5774:Nup188	UTSW	2	30,191,060 (GRCm39)	missense	probably damaging	1.00
R5827:Nup188	UTSW	2	30,229,859 (GRCm39)	missense	probably damaging	1.00
R5919:Nup188	UTSW	2	30,229,906 (GRCm39)	missense	probably damaging	1.00
R5923:Nup188	UTSW	2	30,194,102 (GRCm39)	missense	probably benign
R6185:Nup188	UTSW	2	30,231,722 (GRCm39)	missense	probably damaging	0.97
R6457:Nup188	UTSW	2	30,212,199 (GRCm39)	missense	probably damaging	0.98
R6529:Nup188	UTSW	2	30,216,466 (GRCm39)	missense	possibly damaging	0.95
R7002:Nup188	UTSW	2	30,213,580 (GRCm39)	missense	probably damaging	0.99
R7195:Nup188	UTSW	2	30,231,842 (GRCm39)	critical splice donor site	probably null
R7214:Nup188	UTSW	2	30,197,566 (GRCm39)	missense	possibly damaging	0.71
R7345:Nup188	UTSW	2	30,230,613 (GRCm39)	missense	probably benign	0.09
R7853:Nup188	UTSW	2	30,213,575 (GRCm39)	missense	possibly damaging	0.95
R7998:Nup188	UTSW	2	30,220,983 (GRCm39)	missense	probably damaging	1.00
R8012:Nup188	UTSW	2	30,227,277 (GRCm39)	missense	possibly damaging	0.95
R8080:Nup188	UTSW	2	30,227,045 (GRCm39)	missense	possibly damaging	0.94
R8804:Nup188	UTSW	2	30,220,891 (GRCm39)	missense	probably benign
R8850:Nup188	UTSW	2	30,217,576 (GRCm39)	missense	probably damaging	0.99
R9110:Nup188	UTSW	2	30,222,461 (GRCm39)	missense	possibly damaging	0.94
R9157:Nup188	UTSW	2	30,188,456 (GRCm39)	missense	probably benign	0.02
R9209:Nup188	UTSW	2	30,232,397 (GRCm39)	missense	probably benign	0.02
R9325:Nup188	UTSW	2	30,212,271 (GRCm39)	missense	probably damaging	0.99
R9390:Nup188	UTSW	2	30,220,777 (GRCm39)	critical splice donor site	probably null
R9607:Nup188	UTSW	2	30,197,724 (GRCm39)	missense	probably benign	0.01
R9746:Nup188	UTSW	2	30,194,300 (GRCm39)	missense	probably damaging	0.99
R9768:Nup188	UTSW	2	30,227,045 (GRCm39)	missense	probably damaging	0.99
T0722:Nup188	UTSW	2	30,212,693 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCTCCTGGGAGAAGTCAG -3'
(R):5'- TCTCTGAAAGACCAAGGCAG -3'

Sequencing Primer
(F):5'- CCTGGGAGAAGTCAGGGTTAG -3'
(R):5'- AGCAGCATGCCTCACTCAGTG -3'

Posted On

2022-03-25