Mutagenetix > Incidental Mutation

Incidental Mutation 'R4751:Kpna2'

357622

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

041970-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.933) question?

Stock #

R4751 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106879455-106890351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 106883490 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 100 (I100L)

Ref Sequence

ENSEMBL: ENSMUSP00000118679 (fasta)

Gene Model

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

AlphaFold

P52293

Predicted Effect

probably benign
Transcript: ENSMUST00000018506
AA Change: I81L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000018506
Gene: ENSMUSG00000018362
AA Change: I81L

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
AA Change: I81L

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000114636
Gene: ENSMUSG00000018362
AA Change: I81L

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140362
AA Change: I100L

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118679
Gene: ENSMUSG00000018362
AA Change: I100L

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
AA Change: I81L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121655
Gene: ENSMUSG00000018362
AA Change: I81L

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

0.2211

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

95% (124/131)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130023H24Rik	A	T	7: 127,836,258 (GRCm39)	C112S	probably benign	Het
Abca13	G	A	11: 9,227,973 (GRCm39)		probably null	Het
Abca14	A	G	7: 119,911,400 (GRCm39)	E1328G	probably benign	Het
Abca9	T	A	11: 110,021,396 (GRCm39)	I1105F	probably benign	Het
Abr	T	C	11: 76,347,434 (GRCm39)	N396D	possibly damaging	Het
Aftph	A	C	11: 20,677,074 (GRCm39)	C178W	probably damaging	Het
Akr1c14	T	C	13: 4,115,338 (GRCm39)	F89S	possibly damaging	Het
Ank3	C	T	10: 69,822,036 (GRCm39)	A1518V	probably benign	Het
Arfgap2	T	G	2: 91,097,713 (GRCm39)	S143R	probably benign	Het
Aspdh	T	A	7: 44,116,629 (GRCm39)	C107*	probably null	Het
Asphd2	C	A	5: 112,539,612 (GRCm39)	G74W	probably damaging	Het
AU040320	G	A	4: 126,748,259 (GRCm39)		probably null	Het
B3glct	T	A	5: 149,648,867 (GRCm39)		probably null	Het
Bcl9l	A	G	9: 44,418,100 (GRCm39)	K646R	probably damaging	Het
Brat1	T	G	5: 140,704,051 (GRCm39)	L768R	probably damaging	Het
Btbd18	T	A	2: 84,498,265 (GRCm39)	Y634*	probably null	Het
Bub1	T	A	2: 127,665,858 (GRCm39)		probably benign	Het
Carns1	A	T	19: 4,216,417 (GRCm39)	D588E	probably damaging	Het
Cast	T	C	13: 74,894,166 (GRCm39)	K141E	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chsy3	T	C	18: 59,308,872 (GRCm39)	S42P	possibly damaging	Het
Clca3a1	A	T	3: 144,710,609 (GRCm39)	F865I	possibly damaging	Het
Clec4f	T	A	6: 83,622,264 (GRCm39)	M526L	possibly damaging	Het
Clnk	T	C	5: 38,878,256 (GRCm39)	E301G	probably benign	Het
Colgalt2	T	A	1: 152,365,627 (GRCm39)	I309N	probably benign	Het
Cyp2e1	A	T	7: 140,354,629 (GRCm39)	K326*	probably null	Het
Dagla	T	A	19: 10,227,758 (GRCm39)	T717S	probably benign	Het
Dnajc11	G	A	4: 152,052,999 (GRCm39)	R141H	probably benign	Het
Dst	A	G	1: 34,230,965 (GRCm39)	K2853E	probably benign	Het
Eif4g1	A	G	16: 20,505,265 (GRCm39)	K1208E	possibly damaging	Het
Elane	A	G	10: 79,722,625 (GRCm39)	R48G	probably benign	Het
Fbxo30	T	A	10: 11,165,939 (GRCm39)	N220K	probably benign	Het
Fbxo33	A	T	12: 59,247,714 (GRCm39)		probably benign	Het
Fetub	G	A	16: 22,756,645 (GRCm39)	V169I	probably benign	Het
Gpx6	A	C	13: 21,501,234 (GRCm39)	Q107H	probably damaging	Het
H2bc18	A	T	3: 96,176,467 (GRCm39)		probably benign	Het
Homer3	A	T	8: 70,738,084 (GRCm39)	I19F	probably damaging	Het
Hspa4	C	T	11: 53,175,026 (GRCm39)	V144I	probably benign	Het
Icos	C	T	1: 61,032,876 (GRCm39)	S25L	probably benign	Het
Ifna4	A	G	4: 88,760,185 (GRCm39)	T30A	probably benign	Het
Ino80b	C	T	6: 83,101,731 (GRCm39)	G46D	probably damaging	Het
Krt71	C	T	15: 101,643,901 (GRCm39)	G446R	probably damaging	Het
Krtap31-2	A	G	11: 99,827,402 (GRCm39)	N78S	possibly damaging	Het
Lman1	A	G	18: 66,131,505 (GRCm39)	S132P	probably benign	Het
Lmna	T	C	3: 88,393,840 (GRCm39)	Q246R	possibly damaging	Het
Lrp10	T	A	14: 54,706,049 (GRCm39)	V413E	probably damaging	Het
Macf1	A	C	4: 123,365,443 (GRCm39)	I1541S	probably benign	Het
Med24	A	G	11: 98,597,258 (GRCm39)	L874P	probably damaging	Het
Mgll	T	A	6: 88,702,093 (GRCm39)		probably benign	Het
Mrpl37	A	T	4: 106,914,672 (GRCm39)	L364Q	probably damaging	Het
Mrpl47	C	T	3: 32,782,590 (GRCm39)	R209H	probably benign	Het
Muc5ac	T	C	7: 141,371,338 (GRCm39)	F3285L	probably benign	Het
Mylk	A	G	16: 34,699,539 (GRCm39)	R301G	probably benign	Het
Nacad	A	G	11: 6,555,726 (GRCm39)	L8P	unknown	Het
Ncf1	T	A	5: 134,258,399 (GRCm39)	H8L	probably damaging	Het
Ncoa3	T	A	2: 165,911,823 (GRCm39)	M1383K	possibly damaging	Het
Necab2	C	T	8: 120,194,337 (GRCm39)	S271L	probably benign	Het
Nme8	A	T	13: 19,859,808 (GRCm39)		probably null	Het
Nsrp1	T	G	11: 76,967,545 (GRCm39)	T16P	possibly damaging	Het
Obox3	A	T	7: 15,359,617 (GRCm39)		probably null	Het
Or1l8	T	C	2: 36,817,595 (GRCm39)	H177R	probably damaging	Het
Or4c108	A	G	2: 88,803,477 (GRCm39)	C253R	probably damaging	Het
Or4c15	T	A	2: 88,760,258 (GRCm39)	I134F	probably damaging	Het
Or4d6	T	A	19: 12,086,541 (GRCm39)	Y123F	probably damaging	Het
Or52n2b	A	T	7: 104,565,617 (GRCm39)	Y295*	probably null	Het
Or6b2	C	A	1: 92,407,705 (GRCm39)	A213S	probably benign	Het
Osbpl3	C	G	6: 50,277,977 (GRCm39)	E790Q	possibly damaging	Het
Osmr	A	T	15: 6,872,333 (GRCm39)	W254R	probably damaging	Het
Otoa	T	C	7: 120,732,147 (GRCm39)		probably benign	Het
Pagr1a	A	T	7: 126,614,551 (GRCm39)	L218H	probably damaging	Het
Pcdha11	G	A	18: 37,139,997 (GRCm39)	G542D	probably damaging	Het
Pck2	T	A	14: 55,780,018 (GRCm39)	I54N	probably damaging	Het
Ppif	T	C	14: 25,699,923 (GRCm39)	V173A	probably damaging	Het
Ptgs2	T	A	1: 149,979,771 (GRCm39)	L292H	probably damaging	Het
Ptpru	A	G	4: 131,529,897 (GRCm39)	S604P	probably damaging	Het
Qrfpr	T	C	3: 36,236,771 (GRCm39)	H210R	possibly damaging	Het
Rasgrf1	A	G	9: 89,792,171 (GRCm39)	T41A	probably damaging	Het
Rasgrf1	A	G	9: 89,894,919 (GRCm39)	H1113R	probably damaging	Het
Rhoc	T	A	3: 104,699,963 (GRCm39)	I80N	probably damaging	Het
Riok3	A	G	18: 12,287,040 (GRCm39)	N472S	probably benign	Het
Rnf213	A	G	11: 119,336,571 (GRCm39)	Y3314C	probably benign	Het
Shank2	C	T	7: 143,963,205 (GRCm39)	T264I	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l1	A	G	12: 82,387,968 (GRCm39)	I65V	probably benign	Het
Slc22a19	T	C	19: 7,668,510 (GRCm39)	K291R	possibly damaging	Het
Slc22a20	T	C	19: 6,030,488 (GRCm39)	I315V	probably benign	Het
Slc44a1	A	T	4: 53,560,973 (GRCm39)	D563V	probably damaging	Het
Smchd1	A	T	17: 71,698,463 (GRCm39)	H1104Q	probably benign	Het
Spcs2	A	T	7: 99,493,976 (GRCm39)		probably null	Het
Speer1e	T	A	5: 11,236,458 (GRCm39)	Y138N	probably damaging	Het
Sptb	T	C	12: 76,673,884 (GRCm39)	E301G	probably benign	Het
Stum	T	C	1: 180,270,234 (GRCm39)	D86G	probably damaging	Het
Sufu	A	T	19: 46,472,088 (GRCm39)	D449V	probably benign	Het
Sun5	T	C	2: 153,707,936 (GRCm39)		probably null	Het
Tbc1d15	T	A	10: 115,038,492 (GRCm39)	I574F	probably damaging	Het
Tert	G	A	13: 73,776,182 (GRCm39)	S311N	possibly damaging	Het
Tiparp	T	C	3: 65,460,225 (GRCm39)	Y507H	probably damaging	Het
Tnk2	T	C	16: 32,498,675 (GRCm39)	C158R	probably damaging	Het
Tpgs1	T	C	10: 79,511,454 (GRCm39)	S199P	possibly damaging	Het
Trdmt1	G	T	2: 13,549,464 (GRCm39)		probably benign	Het
Trp53bp1	T	A	2: 121,058,290 (GRCm39)	D944V	probably damaging	Het
Tsc1	T	A	2: 28,569,093 (GRCm39)	I720N	probably damaging	Het
Ttn	T	C	2: 76,539,949 (GRCm39)	T34346A	probably benign	Het
Ttn	T	C	2: 76,727,925 (GRCm39)		probably benign	Het
Uba7	T	A	9: 107,857,004 (GRCm39)	C686S	possibly damaging	Het
Ush2a	T	A	1: 188,582,284 (GRCm39)	F3782L	probably damaging	Het
Vars2	A	T	17: 35,970,235 (GRCm39)	H745Q	possibly damaging	Het
Vgf	T	A	5: 137,061,255 (GRCm39)	D472E	probably damaging	Het
Vmn2r15	T	C	5: 109,434,620 (GRCm39)	M695V	probably benign	Het
Vps41	A	T	13: 18,995,792 (GRCm39)	D208V	probably damaging	Het
Vta1	C	T	10: 14,531,560 (GRCm39)	A272T	probably benign	Het
Wnk4	G	A	11: 101,167,188 (GRCm39)		probably benign	Het
Zfp507	T	C	7: 35,493,807 (GRCm39)	K412R	probably damaging	Het
Zfp768	A	G	7: 126,943,934 (GRCm39)	F65L	possibly damaging	Het
Zfp956	T	C	6: 47,940,510 (GRCm39)	S290P	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
R1750:Kpna2	UTSW	11	106,882,271 (GRCm39)	missense	probably damaging	0.99
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'- AAAATTCATGATTCTCCACTGCA -3'
(R):5'- CTTACAATGCCATGTGTGCTAGTGT -3'

Sequencing Primer
(F):5'- ATGATTCTCCACTGCACCTCC -3'
(R):5'- ATGGTGCTGCCCACATTAAG -3'

Posted On

2015-11-11