Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Kpna2'

382084

Institutional Source

Beutler Lab

Gene Symbol

Kpna2

Ensembl Gene

ENSMUSG00000018362

Gene Name

karyopherin subunit alpha 2

Synonyms

2410044B12Rik, Importin alpha, m-importin, pendulin, m-importin-alpha-P1, Rch1, importin alpha 1

MMRRC Submission

042549-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R4952 (G1)

Quality Score

162

Status

Validated

Chromosome

Chromosomal Location

106879455-106890351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106882061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 255 (T255M)

Ref Sequence

ENSEMBL: ENSMUSP00000018506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018506] [ENSMUST00000106768] [ENSMUST00000124541] [ENSMUST00000140362] [ENSMUST00000144834] [ENSMUST00000145331]

AlphaFold

P52293

Predicted Effect

probably damaging
Transcript: ENSMUST00000018506
AA Change: T255M

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

SMART Domains

Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: T255M

Domain	Start	End	E-Value	Type
Pfam:IBB	9	98	2.8e-32	PFAM
ARM	108	149	8.95e-7	SMART
ARM	151	191	1.33e-9	SMART
ARM	193	231	2.7e-1	SMART
ARM	241	280	1.74e-4	SMART
ARM	282	322	1.92e-6	SMART
ARM	324	364	2.76e-7	SMART
ARM	366	406	3.45e-8	SMART
ARM	409	449	2.17e-5	SMART
Pfam:Arm_3	458	509	3.6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106768

SMART Domains

Protein: ENSMUSP00000102379
Gene: ENSMUSG00000018362

Domain	Start	End	E-Value	Type
Pfam:IBB	5	79	4.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124541

SMART Domains

Protein: ENSMUSP00000114636
Gene: ENSMUSG00000018362

Domain	Start	End	E-Value	Type
Pfam:IBB	5	99	5.7e-29	PFAM
Pfam:Arm	108	149	4.6e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140362

SMART Domains

Protein: ENSMUSP00000118679
Gene: ENSMUSG00000018362

Domain	Start	End	E-Value	Type
Pfam:IBB	24	118	9.7e-30	PFAM
Pfam:Arm	127	168	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144834

SMART Domains

Protein: ENSMUSP00000121655
Gene: ENSMUSG00000018362

Domain	Start	End	E-Value	Type
Pfam:IBB	5	99	5.1e-29	PFAM
Pfam:Arm	108	149	4.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145331

SMART Domains

Protein: ENSMUSP00000122983
Gene: ENSMUSG00000018362

Domain	Start	End	E-Value	Type
Pfam:IBB	5	74	1.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156495

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The import of proteins into the nucleus is a process that involves at least 2 steps. The first is an energy-independent docking of the protein to the nuclear envelope and the second is an energy-dependent translocation through the nuclear pore complex. Imported proteins require a nuclear localization sequence (NLS) which generally consists of a short region of basic amino acids or 2 such regions spaced about 10 amino acids apart. Proteins involved in the first step of nuclear import have been identified in different systems. These include the Xenopus protein importin and its yeast homolog, SRP1 (a suppressor of certain temperature-sensitive mutations of RNA polymerase I in Saccharomyces cerevisiae), which bind to the NLS. KPNA2 protein interacts with the NLSs of DNA helicase Q1 and SV40 T antigen and may be involved in the nuclear transport of proteins. KPNA2 also may play a role in V(D)J recombination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,887,063 (GRCm39)		probably null	Het
4933421I07Rik	T	C	7: 42,097,083 (GRCm39)	Y76C	possibly damaging	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Ak9	A	G	10: 41,296,585 (GRCm39)	M1444V	probably benign	Het
Amfr	A	G	8: 94,699,787 (GRCm39)		probably benign	Het
Ankef1	A	G	2: 136,392,449 (GRCm39)	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,482,982 (GRCm39)	M977V	probably benign	Het
Ap3m1	A	T	14: 21,090,134 (GRCm39)	S5T	probably benign	Het
Aqr	C	A	2: 113,940,418 (GRCm39)	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,549,769 (GRCm39)	L591P	probably damaging	Het
Arid4a	C	A	12: 71,070,299 (GRCm39)	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,547,857 (GRCm39)	A149T	probably benign	Het
Avpr1a	T	A	10: 122,285,659 (GRCm39)	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,741 (GRCm39)	I109V	probably damaging	Het
Catsperd	A	G	17: 56,939,303 (GRCm39)	Y44C	probably damaging	Het
Crygb	T	G	1: 65,121,268 (GRCm39)	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,928,334 (GRCm39)	N237S	probably benign	Het
Dkk3	C	T	7: 111,717,558 (GRCm39)	A304T	probably benign	Het
Dst	T	C	1: 34,310,503 (GRCm39)	L4101S	probably damaging	Het
Dysf	A	G	6: 84,126,968 (GRCm39)	N1407S	possibly damaging	Het
Epb41	A	G	4: 131,727,581 (GRCm39)	V265A	probably damaging	Het
Faim2	C	T	15: 99,419,109 (GRCm39)	E75K	possibly damaging	Het
Fam237b	T	A	5: 5,625,387 (GRCm39)	F28I	probably benign	Het
Fbn1	T	A	2: 125,159,454 (GRCm39)	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,153,950 (GRCm39)	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,105,269 (GRCm39)	I299L	probably benign	Het
Fras1	C	T	5: 96,795,357 (GRCm39)	A1050V	probably benign	Het
Fyb1	C	A	15: 6,668,292 (GRCm39)	T495K	probably damaging	Het
Ghdc	A	T	11: 100,659,977 (GRCm39)	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962 (GRCm39)	L69S	probably benign	Het
Gm12250	G	T	11: 58,079,210 (GRCm39)		noncoding transcript	Het
Gm4846	A	T	1: 166,311,503 (GRCm39)	F452Y	probably damaging	Het
Gpbp1	T	C	13: 111,577,284 (GRCm39)	D202G	probably damaging	Het
Gpd2	C	A	2: 57,197,025 (GRCm39)	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,493 (GRCm39)	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,542,523 (GRCm39)	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,425,480 (GRCm39)	W640L	probably benign	Het
Kalrn	A	T	16: 34,177,785 (GRCm39)		probably null	Het
Keap1	T	C	9: 21,148,582 (GRCm39)	T142A	probably damaging	Het
Kpna3	A	G	14: 61,607,838 (GRCm39)	C456R	probably damaging	Het
Lama1	G	A	17: 68,074,561 (GRCm39)		probably null	Het
Lrrc37	T	C	11: 103,505,033 (GRCm39)	T2312A	possibly damaging	Het
Mag	C	A	7: 30,608,581 (GRCm39)	E178*	probably null	Het
Map3k13	A	G	16: 21,729,769 (GRCm39)	I467V	probably benign	Het
Mga	A	G	2: 119,733,782 (GRCm39)	E210G	probably damaging	Het
Msi2	C	T	11: 88,257,610 (GRCm39)		probably null	Het
Naa16	A	T	14: 79,582,525 (GRCm39)	D521E	probably damaging	Het
Nav2	C	T	7: 48,954,288 (GRCm39)		probably benign	Het
Nek10	T	A	14: 14,860,986 (GRCm38)	L513M	possibly damaging	Het
Nek5	T	C	8: 22,586,815 (GRCm39)	K332R	probably benign	Het
Nek5	T	A	8: 22,569,104 (GRCm39)	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,103,852 (GRCm39)		probably benign	Het
Odad1	A	C	7: 45,591,615 (GRCm39)	E293A	probably damaging	Het
Or2w1	G	A	13: 21,317,514 (GRCm39)	V190I	probably benign	Het
Or5v1b	A	T	17: 37,841,641 (GRCm39)	T258S	possibly damaging	Het
Or6c204	T	A	10: 129,022,466 (GRCm39)	T275S	probably benign	Het
Or8b12b	T	A	9: 37,684,360 (GRCm39)	M135K	probably damaging	Het
Orai1	T	G	5: 123,167,313 (GRCm39)	V162G	probably damaging	Het
P2rx6	T	C	16: 17,385,308 (GRCm39)	S134P	probably damaging	Het
Pappa2	G	A	1: 158,684,706 (GRCm39)	T811I	probably null	Het
Pcdhga10	T	C	18: 37,880,213 (GRCm39)		probably benign	Het
Pex16	C	T	2: 92,209,405 (GRCm39)	R241*	probably null	Het
Plxnb1	T	C	9: 108,943,904 (GRCm39)	F1969L	probably damaging	Het
Postn	A	G	3: 54,297,736 (GRCm39)		probably benign	Het
Prdm15	A	T	16: 97,607,277 (GRCm39)	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,870,339 (GRCm39)	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,094,952 (GRCm39)	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,597 (GRCm39)	D405G	probably damaging	Het
Rell1	A	G	5: 64,097,010 (GRCm39)		probably benign	Het
Rfx3	A	G	19: 27,808,072 (GRCm39)	S224P	probably damaging	Het
Scarb2	A	T	5: 92,602,636 (GRCm39)	I260K	probably damaging	Het
Septin4	A	G	11: 87,458,598 (GRCm39)	N324S	probably benign	Het
Slc15a4	A	G	5: 127,680,901 (GRCm39)	F72L	probably damaging	Het
Spg7	C	A	8: 123,816,910 (GRCm39)	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589 (GRCm39)	T164A	probably benign	Het
Syt11	C	T	3: 88,669,590 (GRCm39)	G101S	possibly damaging	Het
Traj12	A	G	14: 54,444,013 (GRCm39)		probably benign	Het
Traj7	A	T	14: 54,448,981 (GRCm39)		probably benign	Het
Tysnd1	C	T	10: 61,537,855 (GRCm39)	T175I	possibly damaging	Het
Usp48	T	G	4: 137,334,004 (GRCm39)	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,400,317 (GRCm39)	L244P	probably benign	Het
Wasf1	C	A	10: 40,812,186 (GRCm39)	P325Q	unknown	Het
Zc3h18	T	A	8: 123,137,639 (GRCm39)		probably benign	Het
Zfp712	A	G	13: 67,188,905 (GRCm39)	S541P	possibly damaging	Het

Other mutations in Kpna2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01542:Kpna2	APN	11	106,882,027 (GRCm39)	missense	probably benign	0.01
IGL02985:Kpna2	APN	11	106,880,163 (GRCm39)	missense	probably benign	0.11
R0016:Kpna2	UTSW	11	106,881,912 (GRCm39)	missense	probably benign
R0233:Kpna2	UTSW	11	106,883,457 (GRCm39)	missense	probably benign	0.03
R0359:Kpna2	UTSW	11	106,882,148 (GRCm39)	missense	probably damaging	1.00
R1450:Kpna2	UTSW	11	106,888,135 (GRCm39)	missense	probably benign	0.05
R1750:Kpna2	UTSW	11	106,882,271 (GRCm39)	missense	probably damaging	0.99
R4751:Kpna2	UTSW	11	106,883,490 (GRCm39)	missense	possibly damaging	0.85
R4762:Kpna2	UTSW	11	106,881,085 (GRCm39)	missense	probably benign	0.04
R4911:Kpna2	UTSW	11	106,881,545 (GRCm39)	missense	probably damaging	1.00
R4976:Kpna2	UTSW	11	106,882,295 (GRCm39)	missense	probably damaging	1.00
R5283:Kpna2	UTSW	11	106,881,658 (GRCm39)	missense	probably damaging	1.00
R5564:Kpna2	UTSW	11	106,881,571 (GRCm39)	missense	probably damaging	1.00
R6870:Kpna2	UTSW	11	106,883,520 (GRCm39)	splice site	probably null
R7599:Kpna2	UTSW	11	106,889,583 (GRCm39)	missense	probably null
R7606:Kpna2	UTSW	11	106,882,884 (GRCm39)	missense	probably damaging	0.99
R7672:Kpna2	UTSW	11	106,879,789 (GRCm39)	missense	probably benign	0.00
R9063:Kpna2	UTSW	11	106,883,489 (GRCm39)	missense	probably benign	0.03
R9067:Kpna2	UTSW	11	106,882,039 (GRCm39)	missense	possibly damaging	0.94
R9221:Kpna2	UTSW	11	106,880,158 (GRCm39)	missense	probably damaging	1.00
R9352:Kpna2	UTSW	11	106,880,292 (GRCm39)	missense	probably damaging	0.96
R9668:Kpna2	UTSW	11	106,881,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAATGGGCAGTTCAGTAG -3'
(R):5'- TGCGATTGACCCACTGTTGG -3'

Sequencing Primer
(F):5'- GCTCCTAGAAGCTTCACAAGTTGG -3'
(R):5'- CGATCTGTCTACCTTGGCAGTAAG -3'

Posted On

2016-04-27