Mutagenetix > Incidental Mutation

Incidental Mutation 'R1750:Kpna2'

193438

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

039782-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R1750 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106879455-106890351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 106882271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 212 (L212I)

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: L212I

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: L212I

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

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 91.9%

Validation Efficiency

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	G	T	7: 130,747,859 (GRCm39)	N44K	probably benign	Het
Acd	C	A	8: 106,425,524 (GRCm39)	A270S	possibly damaging	Het
Acnat1	G	A	4: 49,451,042 (GRCm39)	T23I	probably benign	Het
Adam26a	T	G	8: 44,023,226 (GRCm39)	E88A	possibly damaging	Het
Adgrb1	G	A	15: 74,413,676 (GRCm39)	V589M	probably benign	Het
Agbl2	T	A	2: 90,646,720 (GRCm39)		probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,999 (GRCm39)	L170P	probably damaging	Het
Btg2	T	C	1: 134,006,769 (GRCm39)	D8G	probably benign	Het
Cacna1g	A	T	11: 94,334,118 (GRCm39)	V841E	probably damaging	Het
Cacna2d1	C	T	5: 16,469,286 (GRCm39)	P230L	probably benign	Het
Cacna2d2	A	T	9: 107,401,843 (GRCm39)	D766V	probably damaging	Het
Carns1	A	G	19: 4,223,156 (GRCm39)	W23R	possibly damaging	Het
Cdk11b	T	A	4: 155,713,137 (GRCm39)		probably null	Het
Chrna3	T	C	9: 54,923,341 (GRCm39)	S156G	probably damaging	Het
Cmya5	A	T	13: 93,232,171 (GRCm39)	N972K	probably benign	Het
Cpne7	C	A	8: 123,861,263 (GRCm39)	P541T	probably damaging	Het
Cracd	A	G	5: 77,005,522 (GRCm39)	I628V	unknown	Het
Csmd1	A	T	8: 15,967,303 (GRCm39)	L3187I	probably damaging	Het
Dbt	A	G	3: 116,339,943 (GRCm39)	I404V	probably benign	Het
Dgki	A	T	6: 36,893,369 (GRCm39)	I819K	probably damaging	Het
Dip2b	T	A	15: 100,076,347 (GRCm39)	S782T	probably benign	Het
Dlc1	A	T	8: 37,325,244 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,098,676 (GRCm39)	V459E	probably damaging	Het
Enam	A	G	5: 88,651,086 (GRCm39)	E790G	probably damaging	Het
Epb41l4a	G	C	18: 33,961,261 (GRCm39)	Y424*	probably null	Het
Extl1	A	G	4: 134,089,999 (GRCm39)	S370P	probably benign	Het
Fan1	T	C	7: 64,022,761 (GRCm39)	Y164C	probably benign	Het
Fbxw15	G	A	9: 109,387,314 (GRCm39)	S227F	probably damaging	Het
Fbxw25	A	T	9: 109,479,141 (GRCm39)	I370N	probably benign	Het
Fcgbp	T	A	7: 27,792,868 (GRCm39)	Y957*	probably null	Het
Gkap1	C	A	13: 58,384,857 (GRCm39)	E77*	probably null	Het
Gkn1	A	T	6: 87,326,105 (GRCm39)	N28K	unknown	Het
Gls2	A	G	10: 128,037,194 (GRCm39)	E245G	probably damaging	Het
Glyat	G	A	19: 12,623,679 (GRCm39)	V32I	probably benign	Het
Gm2431	A	T	7: 141,811,762 (GRCm39)	C47*	probably null	Het
Gm5431	T	C	11: 48,785,658 (GRCm39)	D239G	probably benign	Het
Ift70a1	C	T	2: 75,810,599 (GRCm39)	V495I	probably benign	Het
Inpp5d	T	C	1: 87,626,803 (GRCm39)	F540L	probably damaging	Het
Kcna1	A	C	6: 126,619,771 (GRCm39)	I183S	probably benign	Het
Krt36	C	G	11: 99,994,884 (GRCm39)	R229S	probably benign	Het
Krt78	G	A	15: 101,854,812 (GRCm39)	H1000Y	probably benign	Het
Krt90	A	G	15: 101,461,800 (GRCm39)		probably benign	Het
Ldlrad4	C	A	18: 68,239,758 (GRCm39)	F59L	probably benign	Het
Lrrc3b	T	C	14: 15,358,601 (GRCm38)	N2D	probably benign	Het
Madd	T	C	2: 90,998,236 (GRCm39)	D239G	probably damaging	Het
Mapk8ip3	C	T	17: 25,133,433 (GRCm39)	G332S	probably null	Het
Mastl	A	T	2: 23,036,093 (GRCm39)	L141*	probably null	Het
Mdh1b	T	C	1: 63,758,681 (GRCm39)	N304D	probably benign	Het
Mfsd4b3-ps	G	T	10: 39,823,929 (GRCm39)	N110K	probably benign	Het
Mtus2	T	C	5: 148,214,443 (GRCm39)	S1035P	probably damaging	Het
Muc21	T	A	17: 35,931,940 (GRCm39)		probably benign	Het
Myh11	T	A	16: 14,018,622 (GRCm39)	D1908V	probably damaging	Het
Myh11	T	C	16: 14,033,654 (GRCm39)	E1080G	probably damaging	Het
Mypn	A	C	10: 62,971,976 (GRCm39)	M688R	probably benign	Het
Nat8l	G	T	5: 34,158,130 (GRCm39)	C180F	probably damaging	Het
Nip7	T	A	8: 107,784,018 (GRCm39)	L86Q	probably damaging	Het
Nisch	C	T	14: 30,896,839 (GRCm39)		probably benign	Het
Nop2	A	G	6: 125,114,601 (GRCm39)	I283V	probably benign	Het
Oas1h	T	A	5: 121,009,840 (GRCm39)		probably null	Het
Or10ag56	T	C	2: 87,139,196 (GRCm39)	V41A	probably benign	Het
Or2g25	A	C	17: 37,970,564 (GRCm39)	I220S	probably damaging	Het
Or4c101	C	A	2: 88,390,402 (GRCm39)	D185E	possibly damaging	Het
Or4c104	T	C	2: 88,586,117 (GRCm39)	R301G	probably benign	Het
Or56b1b	A	T	7: 108,164,564 (GRCm39)	L146*	probably null	Het
Or5w17	T	A	2: 87,583,530 (GRCm39)	D269V	probably damaging	Het
Or8b42	T	A	9: 38,341,986 (GRCm39)	M136K	probably damaging	Het
P4hb	A	G	11: 120,453,546 (GRCm39)	V373A	probably damaging	Het
Pappa2	C	A	1: 158,590,720 (GRCm39)	E1645*	probably null	Het
Pcdh10	G	T	3: 45,336,316 (GRCm39)	E877*	probably null	Het
Pcdhb17	C	T	18: 37,618,764 (GRCm39)	R185C	probably damaging	Het
Pcdhb17	A	G	18: 37,620,070 (GRCm39)	H620R	possibly damaging	Het
Pdcl3	T	A	1: 39,034,946 (GRCm39)	F168I	probably damaging	Het
Pde4a	T	A	9: 21,114,528 (GRCm39)	I365N	probably damaging	Het
Pdzd2	A	G	15: 12,385,950 (GRCm39)	V940A	probably damaging	Het
Picalm	T	A	7: 89,840,390 (GRCm39)	S399T	possibly damaging	Het
Pigk	A	T	3: 152,450,101 (GRCm39)	I249F	probably damaging	Het
Plxnb1	C	A	9: 108,940,836 (GRCm39)	H1570Q	probably benign	Het
Plxnc1	A	G	10: 94,635,359 (GRCm39)	Y1321H	probably damaging	Het
Ppm1g	G	A	5: 31,363,560 (GRCm39)	S114F	probably damaging	Het
Rassf4	A	G	6: 116,617,228 (GRCm39)	M259T	probably damaging	Het
Rbm47	T	C	5: 66,176,653 (GRCm39)	K557E	possibly damaging	Het
Rhobtb1	A	G	10: 69,115,236 (GRCm39)	K21R	probably damaging	Het
Selenoi	T	C	5: 30,462,771 (GRCm39)	F212S	probably benign	Het
Shc3	T	G	13: 51,603,328 (GRCm39)	Y259S	probably damaging	Het
Skic3	T	A	13: 76,288,720 (GRCm39)	L951Q	possibly damaging	Het
Slc11a2	T	C	15: 100,299,168 (GRCm39)	N134S	probably damaging	Het
Slc9a7	A	T	X: 20,028,717 (GRCm39)	M368K	probably damaging	Het
Slx4ip	T	A	2: 136,888,669 (GRCm39)	C117S	probably damaging	Het
Spata31d1d	T	A	13: 59,876,509 (GRCm39)	Q342L	probably benign	Het
Spink13	T	A	18: 62,740,820 (GRCm39)	Y93F	probably damaging	Het
St6galnac5	A	T	3: 152,551,958 (GRCm39)	I203N	possibly damaging	Het
Syne2	T	A	12: 76,099,579 (GRCm39)	C5335S	probably damaging	Het
Tagap	T	A	17: 8,148,742 (GRCm39)	D173E	probably benign	Het
Tekt3	A	C	11: 62,960,867 (GRCm39)	Y12S	probably damaging	Het
Tmem81	T	A	1: 132,435,321 (GRCm39)	N42K	probably damaging	Het
Tnc	A	G	4: 63,890,972 (GRCm39)	W1728R	probably damaging	Het
Ttc33	C	T	15: 5,241,579 (GRCm39)	R135*	probably null	Het
Unc5c	A	G	3: 141,533,278 (GRCm39)	D842G	possibly damaging	Het
Usp43	A	T	11: 67,770,779 (GRCm39)	H618Q	probably damaging	Het
Vmn2r50	T	G	7: 9,786,915 (GRCm39)	N64T	possibly damaging	Het
Vmn2r53	T	C	7: 12,315,632 (GRCm39)	Y729C	probably damaging	Het
Vmn2r59	T	A	7: 41,695,251 (GRCm39)	H387L	possibly damaging	Het
Vstm2a	G	T	11: 16,213,166 (GRCm39)	V184F	possibly damaging	Het
Wdr53	T	G	16: 32,070,935 (GRCm39)	N93K	probably damaging	Het
Wdr95	A	G	5: 149,505,351 (GRCm39)		probably null	Het
Xpot	A	T	10: 121,438,932 (GRCm39)		probably null	Het
Xrcc5	C	T	1: 72,364,246 (GRCm39)	Q233*	probably null	Het
Zbtb18	T	A	1: 177,275,077 (GRCm39)	C137S	possibly damaging	Het
Zfp58	C	A	13: 67,639,598 (GRCm39)	G298*	probably null	Het
Zfp963	A	G	8: 70,196,100 (GRCm39)	S118P	possibly damaging	Het
Zmynd15	A	T	11: 70,353,393 (GRCm39)	Q336L	probably benign	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
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'- GTGCAGGGTTCTTGTTTCGACAAAG -3'
(R):5'- GGCATCTCCTCATGCTCACATCAG -3'

Sequencing Primer
(F):5'- TCGACAAAGGTTTGAAAGTGTCC -3'
(R):5'- ttttgagacagggtctctcttac -3'

Posted On

2014-05-23