Mutagenetix > Incidental Mutation

Incidental Mutation 'R2229:Kpna7'

239593

Institutional Source

Beutler Lab

Gene Symbol

Kpna7

Ensembl Gene

ENSMUSG00000038770

Gene Name

karyopherin subunit alpha 7

Synonyms

LOC381686, importin alpha 2

MMRRC Submission

040230-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

R2229 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144920537-144946446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144926507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 482 (Y482N)

Ref Sequence

ENSEMBL: ENSMUSP00000112155 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454]

AlphaFold

C0LLJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000110672
AA Change: Y482N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: Y482N

Domain	Start	End	E-Value	Type
Pfam:IBB	2	91	1.7e-14	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	6.18e-10	SMART
ARM	185	226	1.78e-1	SMART
ARM	229	268	4.28e-4	SMART
ARM	270	310	1.19e-2	SMART
ARM	312	352	5.27e-4	SMART
ARM	354	393	2.85e0	SMART
ARM	396	436	8.17e-1	SMART
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110673
AA Change: Y503N

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: Y503N

Domain	Start	End	E-Value	Type
Pfam:IBB	6	90	2.7e-19	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	3.31e-10	SMART
ARM	206	247	1.78e-1	SMART
ARM	250	289	4.28e-4	SMART
ARM	291	331	1.19e-2	SMART
ARM	333	373	5.27e-4	SMART
ARM	375	414	2.85e0	SMART
ARM	417	457	8.17e-1	SMART
Pfam:Arm_3	466	517	8.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000116454
AA Change: Y482N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: Y482N

Domain	Start	End	E-Value	Type
Pfam:IBB	2	91	1.7e-14	PFAM
ARM	100	141	1.4e-8	SMART
ARM	143	183	6.18e-10	SMART
ARM	185	226	1.78e-1	SMART
ARM	229	268	4.28e-4	SMART
ARM	270	310	1.19e-2	SMART
ARM	312	352	5.27e-4	SMART
ARM	354	393	2.85e0	SMART
ARM	396	436	8.17e-1	SMART
low complexity region	486	497	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142866

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous or heterozygous for a null mutation display smaller litter sizes with preferential loss of females and accelerated cell cycles post fertilization resulting in loss of embryos. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	T	8: 41,133,404 (GRCm39)	I291L	probably benign	Het
Adcy8	C	A	15: 64,694,056 (GRCm39)	R407L	possibly damaging	Het
Adgb	A	T	10: 10,311,795 (GRCm39)	V212E	probably damaging	Het
Adgrg7	C	T	16: 56,572,766 (GRCm39)	S350N	probably benign	Het
Agbl1	A	G	7: 76,083,126 (GRCm39)	T448A	probably benign	Het
Aldh1l1	C	G	6: 90,560,168 (GRCm39)	T605R	probably damaging	Het
Arfip1	A	T	3: 84,455,280 (GRCm39)	N18K	probably damaging	Het
Atp6v1b2	C	A	8: 69,555,411 (GRCm39)		probably null	Het
Banp	G	A	8: 122,705,424 (GRCm39)	S98N	probably damaging	Het
Btnl9	T	C	11: 49,059,945 (GRCm39)	D601G	probably damaging	Het
C9	T	C	15: 6,474,901 (GRCm39)	I20T	possibly damaging	Het
Cacna1b	A	G	2: 24,575,816 (GRCm39)	V744A	probably damaging	Het
Catsper3	A	G	13: 55,955,867 (GRCm39)	E311G	probably damaging	Het
Ccdc180	G	T	4: 45,948,856 (GRCm39)		probably null	Het
Cdc5l	A	G	17: 45,718,772 (GRCm39)	Y615H	probably benign	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Eml4	C	T	17: 83,758,485 (GRCm39)	P502S	probably benign	Het
Fsip1	T	C	2: 118,052,925 (GRCm39)	E367G	probably benign	Het
Gja3	T	C	14: 57,274,171 (GRCm39)	D67G	probably damaging	Het
Gm4894	T	C	9: 49,185,490 (GRCm39)		probably benign	Het
Gm7853	A	G	14: 35,811,484 (GRCm39)		noncoding transcript	Het
Gmps	T	G	3: 63,921,684 (GRCm39)	Y562*	probably null	Het
Golga2	C	A	2: 32,196,477 (GRCm39)	P976T	probably benign	Het
Gpr182	T	A	10: 127,586,010 (GRCm39)	I314F	possibly damaging	Het
Gprc6a	A	G	10: 51,502,891 (GRCm39)	V324A	possibly damaging	Het
Gykl1	A	G	18: 52,828,339 (GRCm39)	T516A	probably benign	Het
H2ac21	T	C	3: 96,127,422 (GRCm39)	L64P	possibly damaging	Het
Ifit1bl2	G	T	19: 34,596,630 (GRCm39)	L329M	possibly damaging	Het
Igsf9b	T	C	9: 27,244,792 (GRCm39)	S920P	probably damaging	Het
Kif3c	T	A	12: 3,416,671 (GRCm39)	S231T	probably benign	Het
Lmnb2	T	C	10: 80,740,226 (GRCm39)		probably benign	Het
Lrrc69	T	C	4: 14,773,694 (GRCm39)	S121G	probably benign	Het
Mppe1	A	G	18: 67,361,082 (GRCm39)		probably null	Het
Muc5b	T	A	7: 141,415,381 (GRCm39)	C2776S	possibly damaging	Het
Myh8	T	G	11: 67,199,174 (GRCm39)	N1893K	probably damaging	Het
Myo7a	T	C	7: 97,704,117 (GRCm39)	T1932A	probably benign	Het
Nbn	A	G	4: 15,970,904 (GRCm39)	T296A	probably benign	Het
Nckap1l	T	C	15: 103,364,361 (GRCm39)		probably null	Het
Nek5	A	T	8: 22,603,648 (GRCm39)	N151K	possibly damaging	Het
Nup93	C	T	8: 95,030,819 (GRCm39)	T305I	probably benign	Het
Oca2	T	A	7: 56,006,903 (GRCm39)	H663Q	probably benign	Het
Optn	T	A	2: 5,028,928 (GRCm39)	H525L	probably damaging	Het
Pdzph1	A	G	17: 59,239,407 (GRCm39)		probably benign	Het
Pikfyve	A	G	1: 65,307,014 (GRCm39)	K1801E	probably damaging	Het
Pkd2l2	G	A	18: 34,563,382 (GRCm39)	V478M	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,098 (GRCm39)	R224L	probably benign	Het
Prpf19	A	G	19: 10,874,962 (GRCm39)	T39A	probably benign	Het
Pwwp2b	T	C	7: 138,835,104 (GRCm39)	C182R	probably damaging	Het
Rcan3	T	C	4: 135,152,688 (GRCm39)	D11G	probably benign	Het
Rgsl1	C	A	1: 153,698,104 (GRCm39)	W482L	possibly damaging	Het
Sfxn4	C	T	19: 60,839,458 (GRCm39)	G200E	probably damaging	Het
Slc4a8	T	C	15: 100,707,180 (GRCm39)	I848T	probably damaging	Het
Slc7a13	T	C	4: 19,839,399 (GRCm39)	V334A	probably benign	Het
Smarcc2	A	G	10: 128,324,210 (GRCm39)		probably benign	Het
Spata18	A	T	5: 73,824,244 (GRCm39)	I156L	possibly damaging	Het
Spats2	T	C	15: 99,072,334 (GRCm39)		probably null	Het
Tas2r104	G	A	6: 131,662,095 (GRCm39)	H205Y	probably damaging	Het
Tcof1	A	G	18: 60,965,249 (GRCm39)		probably benign	Het
Tex15	C	A	8: 34,061,265 (GRCm39)	H232N	probably benign	Het
Tg	A	T	15: 66,545,860 (GRCm39)	Q194L	probably damaging	Het
Tnfrsf22	C	T	7: 143,198,513 (GRCm39)		probably null	Het
Trim25	T	A	11: 88,907,447 (GRCm39)	V602E	probably damaging	Het
Ttll9	A	G	2: 152,824,983 (GRCm39)	E54G	probably damaging	Het
Ttn	T	C	2: 76,559,668 (GRCm39)	T29578A	probably damaging	Het
Tubgcp5	A	G	7: 55,480,629 (GRCm39)	Q960R	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp13	A	G	3: 32,971,700 (GRCm39)	I727V	probably benign	Het
Vmn2r67	T	A	7: 84,801,250 (GRCm39)	I229F	probably benign	Het
Vmn2r92	A	C	17: 18,387,654 (GRCm39)	I220L	probably benign	Het
Wnk4	T	A	11: 101,166,467 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,745 (GRCm39)	Y437N	probably damaging	Het
Zdhhc5	A	G	2: 84,520,557 (GRCm39)	I540T	probably damaging	Het
Zfp729b	T	C	13: 67,743,384 (GRCm39)	I60M	probably damaging	Het

Other mutations in Kpna7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Kpna7	APN	5	144,944,056 (GRCm39)	missense	probably damaging	1.00
IGL01505:Kpna7	APN	5	144,929,661 (GRCm39)	missense	probably damaging	1.00
IGL02009:Kpna7	APN	5	144,930,888 (GRCm39)	critical splice acceptor site	probably null
IGL02365:Kpna7	APN	5	144,922,543 (GRCm39)	missense	possibly damaging	0.49
IGL02947:Kpna7	APN	5	144,930,884 (GRCm39)	missense	probably damaging	1.00
IGL03195:Kpna7	APN	5	144,933,847 (GRCm39)	missense	probably damaging	1.00
IGL03236:Kpna7	APN	5	144,922,504 (GRCm39)	missense	unknown
IGL03333:Kpna7	APN	5	144,942,765 (GRCm39)	missense	possibly damaging	0.48
PIT4515001:Kpna7	UTSW	5	144,941,862 (GRCm39)	missense	probably benign	0.17
R0027:Kpna7	UTSW	5	144,926,507 (GRCm39)	missense	probably damaging	0.99
R0421:Kpna7	UTSW	5	144,926,551 (GRCm39)	missense	possibly damaging	0.82
R0463:Kpna7	UTSW	5	144,944,804 (GRCm39)	missense	possibly damaging	0.66
R2871:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2871:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2873:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R2874:Kpna7	UTSW	5	144,930,745 (GRCm39)	missense	probably benign	0.06
R4079:Kpna7	UTSW	5	144,942,737 (GRCm39)	missense	possibly damaging	0.82
R5841:Kpna7	UTSW	5	144,930,766 (GRCm39)	missense	possibly damaging	0.73
R5888:Kpna7	UTSW	5	144,926,605 (GRCm39)	missense	probably damaging	0.98
R6188:Kpna7	UTSW	5	144,929,654 (GRCm39)	missense	probably damaging	1.00
R7163:Kpna7	UTSW	5	144,939,206 (GRCm39)	missense	unknown
R7502:Kpna7	UTSW	5	144,942,731 (GRCm39)	missense	probably benign	0.07
R7727:Kpna7	UTSW	5	144,941,855 (GRCm39)	missense	probably benign	0.19
R8921:Kpna7	UTSW	5	144,941,840 (GRCm39)	missense	probably damaging	1.00
R9672:Kpna7	UTSW	5	144,944,776 (GRCm39)	missense	probably benign	0.31
X0021:Kpna7	UTSW	5	144,944,043 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- TCATCCATCTTGCCGACGAC -3'
(R):5'- CTGGATCAGGTCTGCCTCTAAC -3'

Sequencing Primer
(F):5'- CATGGATCAACAAGCCTGGGTTTC -3'
(R):5'- AGCTGAAGTTCCACGTGCAC -3'

Posted On

2014-10-15