Incidental Mutation 'R0421:Kpna7'
ID 37055
Institutional Source Beutler Lab
Gene Symbol Kpna7
Ensembl Gene ENSMUSG00000038770
Gene Name karyopherin subunit alpha 7
Synonyms LOC381686, importin alpha 2
MMRRC Submission 038623-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.322) question?
Stock # R0421 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 144920537-144946446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 144926551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 467 (H467L)
Ref Sequence ENSEMBL: ENSMUSP00000112155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110672] [ENSMUST00000110673] [ENSMUST00000116454]
AlphaFold C0LLJ0
Predicted Effect possibly damaging
Transcript: ENSMUST00000110672
AA Change: H467L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106300
Gene: ENSMUSG00000038770
AA Change: H467L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000110673
AA Change: H488L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106301
Gene: ENSMUSG00000038770
AA Change: H488L

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000116454
AA Change: H467L

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000112155
Gene: ENSMUSG00000038770
AA Change: H467L

DomainStartEndE-ValueType
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 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 97% (67/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 G A 2: 22,850,839 (GRCm39) T195I probably damaging Het
Afap1l1 T C 18: 61,884,945 (GRCm39) N180S probably damaging Het
Arsg A G 11: 109,418,592 (GRCm39) Y196C probably damaging Het
Ascc3 G T 10: 50,625,022 (GRCm39) V1637L probably benign Het
Atp2b2 C A 6: 113,790,849 (GRCm39) R185L probably damaging Het
Ccr9 A T 9: 123,608,671 (GRCm39) M118L probably benign Het
Cdh12 A T 15: 21,480,310 (GRCm39) probably null Het
Cdk13 T C 13: 17,937,755 (GRCm39) S763G probably damaging Het
Cenpk C A 13: 104,378,911 (GRCm39) N177K probably benign Het
Cfap43 T G 19: 47,824,014 (GRCm39) N119T probably benign Het
Chrna6 T C 8: 27,898,415 (GRCm39) E101G probably null Het
Clasp2 G A 9: 113,683,370 (GRCm39) R400H probably benign Het
Col6a6 T C 9: 105,661,405 (GRCm39) M235V probably benign Het
Ddx49 A T 8: 70,748,282 (GRCm39) L291Q probably damaging Het
Dhrs7 A T 12: 72,699,860 (GRCm39) probably benign Het
Dnah5 A T 15: 28,229,687 (GRCm39) K107M possibly damaging Het
Dsg2 C T 18: 20,712,448 (GRCm39) R151C probably damaging Het
Dsn1 T C 2: 156,847,789 (GRCm39) T2A possibly damaging Het
Edem3 A G 1: 151,668,189 (GRCm39) probably benign Het
Eif3c T C 7: 126,162,884 (GRCm39) N133S possibly damaging Het
F10 A G 8: 13,095,097 (GRCm39) K85E probably benign Het
Fbn2 T A 18: 58,160,876 (GRCm39) probably benign Het
Gtpbp10 A T 5: 5,607,290 (GRCm39) H50Q probably benign Het
Hephl1 A G 9: 14,970,456 (GRCm39) F1013L probably benign Het
Hps3 C A 3: 20,083,480 (GRCm39) V238F probably benign Het
Kcna10 A C 3: 107,101,820 (GRCm39) K150N probably damaging Het
Kirrel1 C T 3: 86,990,914 (GRCm39) G636D probably damaging Het
Kndc1 G A 7: 139,488,912 (GRCm39) R189H probably damaging Het
Knop1 C T 7: 118,454,852 (GRCm39) E50K possibly damaging Het
Kplce T C 3: 92,776,291 (GRCm39) T131A probably damaging Het
Lcn4 T C 2: 26,558,661 (GRCm39) N142D possibly damaging Het
Map3k3 T C 11: 106,039,741 (GRCm39) probably benign Het
Mdn1 A G 4: 32,684,707 (GRCm39) T806A probably benign Het
Nbeal1 T A 1: 60,307,598 (GRCm39) N1703K probably benign Het
Neurl4 T C 11: 69,799,360 (GRCm39) V914A probably damaging Het
Niban1 T A 1: 151,584,833 (GRCm39) probably benign Het
Nop56 T C 2: 130,118,692 (GRCm39) S275P possibly damaging Het
Or1j20 A G 2: 36,759,653 (GRCm39) E25G possibly damaging Het
Or52ac1 A G 7: 104,245,929 (GRCm39) V153A probably benign Het
Or7e174 A G 9: 20,012,771 (GRCm39) K239E probably damaging Het
Otof A C 5: 30,528,912 (GRCm39) I1827S possibly damaging Het
Pappa2 A T 1: 158,675,650 (GRCm39) I1032N probably damaging Het
Pcdh7 A G 5: 57,877,402 (GRCm39) E319G probably damaging Het
Pcdhb11 T A 18: 37,555,533 (GRCm39) S288T probably benign Het
Phip A T 9: 82,808,510 (GRCm39) D488E probably damaging Het
Pla2g7 A T 17: 43,922,303 (GRCm39) H394L probably damaging Het
Plk3 A G 4: 116,990,641 (GRCm39) V69A probably damaging Het
Prob1 C A 18: 35,786,083 (GRCm39) A724S possibly damaging Het
Prune2 T C 19: 17,100,675 (GRCm39) F2060L probably benign Het
Rgl3 G A 9: 21,887,328 (GRCm39) R498C probably benign Het
Rnf213 A C 11: 119,338,083 (GRCm39) N3362H probably damaging Het
Sbds A G 5: 130,282,774 (GRCm39) probably benign Het
Scn9a T C 2: 66,373,621 (GRCm39) S453G probably benign Het
Sh3rf3 T C 10: 58,819,897 (GRCm39) L236P probably damaging Het
Skint1 A G 4: 111,876,211 (GRCm39) N44S possibly damaging Het
Slc5a1 T A 5: 33,291,996 (GRCm39) I141N probably damaging Het
Tlcd3b G A 7: 126,424,187 (GRCm39) V44M probably damaging Het
Trank1 T A 9: 111,220,907 (GRCm39) I2548N probably damaging Het
Tsc22d2 G A 3: 58,324,749 (GRCm39) probably benign Het
Unc13c T A 9: 73,840,492 (GRCm39) I120F possibly damaging Het
Vmn2r11 T G 5: 109,207,294 (GRCm39) I9L probably benign Het
Vmn2r58 T G 7: 41,514,628 (GRCm39) N114H probably benign Het
Vps53 A G 11: 75,973,496 (GRCm39) L166P probably damaging Het
Zfp119a T A 17: 56,172,248 (GRCm39) K532* probably null Het
Zfp472 A G 17: 33,194,897 (GRCm39) T11A possibly damaging Het
Zfp512b T A 2: 181,230,051 (GRCm39) K87* probably null Het
Zfp518b G A 5: 38,831,918 (GRCm39) P29L probably damaging Het
Zfp599 A G 9: 22,161,843 (GRCm39) probably benign Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) probably benign Het
Other mutations in Kpna7
AlleleSourceChrCoordTypePredicted EffectPPH 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
R0463:Kpna7 UTSW 5 144,944,804 (GRCm39) missense possibly damaging 0.66
R2229:Kpna7 UTSW 5 144,926,507 (GRCm39) missense probably damaging 0.99
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'- AAGCTTCCTGATACTCAAAGGCCAC -3'
(R):5'- GGTCTGCCTCTAACTAAAACAGCCC -3'

Sequencing Primer
(F):5'- CACCTGTAGAACGGGGAC -3'
(R):5'- cacacacacacacacacac -3'
Posted On 2013-05-09