Mutagenetix > Incidental Mutation

Incidental Mutation 'R0359:Kpna2'

30012

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

038565-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R0359 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106879455-106890351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106882148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 226 (L226S)

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: L226S

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

SMART Domains

Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: L226S

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

0.9439

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
2310003L06Rik	A	T	5: 88,112,455 (GRCm39)		probably benign	Het
Abcb5	A	G	12: 118,904,067 (GRCm39)	S213P	probably damaging	Het
Agpat1	A	G	17: 34,829,551 (GRCm39)	I42V	probably benign	Het
Apoh	A	T	11: 108,288,199 (GRCm39)	I106F	probably damaging	Het
BB014433	G	T	8: 15,092,540 (GRCm39)	C104*	probably null	Het
Bsn	C	T	9: 107,989,045 (GRCm39)	G2236S	possibly damaging	Het
Casp9	A	G	4: 141,521,221 (GRCm39)	E19G	probably damaging	Het
Ces1g	T	C	8: 94,055,163 (GRCm39)		probably benign	Het
Cfap65	T	A	1: 74,959,760 (GRCm39)	M797L	probably benign	Het
Col14a1	A	G	15: 55,271,264 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col27a1	G	T	4: 63,232,964 (GRCm39)		probably null	Het
Col6a4	T	A	9: 105,874,345 (GRCm39)	H2214L	probably benign	Het
Ctu2	T	G	8: 123,204,932 (GRCm39)	S72R	probably damaging	Het
Cyp24a1	T	A	2: 170,333,619 (GRCm39)	M245L	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Diaph3	T	C	14: 87,206,938 (GRCm39)	R501G	probably benign	Het
Dip2b	A	G	15: 100,109,874 (GRCm39)	D1453G	probably damaging	Het
Dnah2	G	A	11: 69,420,357 (GRCm39)	T119M	probably benign	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Farp1	A	T	14: 121,492,808 (GRCm39)		probably benign	Het
Fcsk	T	C	8: 111,619,891 (GRCm39)		probably null	Het
Foxf1	T	C	8: 121,811,742 (GRCm39)	V202A	possibly damaging	Het
Fras1	G	A	5: 96,910,449 (GRCm39)	V3293I	probably damaging	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Gclm	T	C	3: 122,049,269 (GRCm39)		probably benign	Het
Gemin4	G	A	11: 76,102,988 (GRCm39)	T591M	probably benign	Het
Glrx3	T	C	7: 137,055,214 (GRCm39)	S119P	possibly damaging	Het
Gm16485	G	T	9: 8,972,437 (GRCm39)		probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hs6st1	G	A	1: 36,108,266 (GRCm39)		probably null	Het
Myom3	G	A	4: 135,505,454 (GRCm39)	V448M	probably damaging	Het
Nalcn	A	G	14: 123,536,580 (GRCm39)	S1224P	probably damaging	Het
Or52n2	A	T	7: 104,542,521 (GRCm39)	F105I	probably damaging	Het
Or56b1b	C	T	7: 108,164,721 (GRCm39)	D94N	probably benign	Het
Or7a38	A	G	10: 78,753,177 (GRCm39)	T168A	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plekha5	G	A	6: 140,537,473 (GRCm39)	R646K	possibly damaging	Het
Pot1a	G	A	6: 25,771,679 (GRCm39)		probably benign	Het
Ppfia1	T	C	7: 144,038,929 (GRCm39)	D494G	probably damaging	Het
Ppp1r1a	T	A	15: 103,441,915 (GRCm39)	D51V	probably damaging	Het
Ptprz1	T	A	6: 22,973,175 (GRCm39)		probably benign	Het
Rad51ap1	A	T	6: 126,911,704 (GRCm39)	V61D	probably damaging	Het
Reln	G	A	5: 22,253,798 (GRCm39)	L605F	probably damaging	Het
Riok3	T	C	18: 12,282,006 (GRCm39)	I325T	probably damaging	Het
Sclt1	A	T	3: 41,616,005 (GRCm39)		probably null	Het
Slc25a39	A	G	11: 102,297,395 (GRCm39)	V24A	possibly damaging	Het
Slc9a3	T	G	13: 74,305,726 (GRCm39)	S248A	probably damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Spen	T	C	4: 141,244,181 (GRCm39)	S285G	unknown	Het
Stxbp5l	A	G	16: 37,036,440 (GRCm39)		probably benign	Het
Thsd7a	G	A	6: 12,352,030 (GRCm39)	P1055L	probably damaging	Het
Tmed3	C	T	9: 89,581,842 (GRCm39)	S207N	possibly damaging	Het
Trerf1	G	T	17: 47,652,062 (GRCm39)		noncoding transcript	Het
Triml1	A	T	8: 43,583,542 (GRCm39)	V353E	probably damaging	Het
Ttn	G	A	2: 76,549,401 (GRCm39)	R31759C	probably damaging	Het
Ugt2b37	T	C	5: 87,398,443 (GRCm39)	Q331R	probably benign	Het
Urb1	A	G	16: 90,588,048 (GRCm39)	I420T	probably damaging	Het
Vmn1r68	A	T	7: 10,261,201 (GRCm39)	L299Q	probably damaging	Het
Vmn1r81	T	A	7: 11,993,877 (GRCm39)	T244S	probably damaging	Het
Vps13a	A	G	19: 16,618,941 (GRCm39)	F2875S	probably damaging	Het
Wscd1	A	G	11: 71,657,692 (GRCm39)	M166V	probably damaging	Het
Zfp296	T	C	7: 19,313,864 (GRCm39)	Y240H	possibly damaging	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably 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
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
R4952:Kpna2	UTSW	11	106,882,061 (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'- CGCTCATTTGGACCATCAGTCAGG -3'
(R):5'- TAAGGTGTTCACTGCCGTGCTC -3'

Sequencing Primer
(F):5'- CAGTCAGGTAGGAAATGGCCC -3'
(R):5'- ATGGTTCAGCTTTCCGAGAC -3'

Posted On

2013-04-24