Incidental Mutation 'R1827:Kank2'
ID 206925
Institutional Source Beutler Lab
Gene Symbol Kank2
Ensembl Gene ENSMUSG00000032194
Gene Name KN motif and ankyrin repeat domains 2
Synonyms Ankrd25
MMRRC Submission 039854-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R1827 (G1)
Quality Score 103
Status Not validated
Chromosome 9
Chromosomal Location 21678069-21709842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 21706761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 86 (S86P)
Ref Sequence ENSEMBL: ENSMUSP00000151181 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000034728] [ENSMUST00000213691] [ENSMUST00000216008] [ENSMUST00000217336]
AlphaFold Q8BX02
Predicted Effect probably damaging
Transcript: ENSMUST00000034717
AA Change: S86P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: S86P

DomainStartEndE-ValueType
Pfam:KN_motif 31 69 9.6e-26 PFAM
low complexity region 139 157 N/A INTRINSIC
coiled coil region 213 229 N/A INTRINSIC
coiled coil region 284 316 N/A INTRINSIC
low complexity region 324 343 N/A INTRINSIC
low complexity region 457 470 N/A INTRINSIC
ANK 658 688 6.36e-3 SMART
ANK 692 725 7.29e2 SMART
ANK 730 759 4.97e-5 SMART
ANK 763 793 3.85e-2 SMART
ANK 797 825 1.06e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034728
SMART Domains Protein: ENSMUSP00000034728
Gene: ENSMUSG00000032198

DomainStartEndE-ValueType
low complexity region 26 42 N/A INTRINSIC
Pfam:DUF3398 63 155 4.7e-26 PFAM
low complexity region 419 429 N/A INTRINSIC
low complexity region 478 489 N/A INTRINSIC
Pfam:DOCK-C2 542 721 3.4e-46 PFAM
low complexity region 754 770 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 945 965 N/A INTRINSIC
low complexity region 1057 1072 N/A INTRINSIC
low complexity region 1123 1153 N/A INTRINSIC
low complexity region 1173 1190 N/A INTRINSIC
low complexity region 1340 1356 N/A INTRINSIC
Pfam:DHR-2 1554 2080 6.6e-214 PFAM
low complexity region 2093 2107 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000213691
Predicted Effect probably benign
Transcript: ENSMUST00000215729
Predicted Effect probably damaging
Transcript: ENSMUST00000216008
AA Change: S86P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000217336
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KN motif and ankyrin repeat domains (KANK) family of proteins, which play a role in cytoskeletal formation by regulating actin polymerization. The encoded protein functions in the sequestration of steroid receptor coactivators and possibly other proteins. Mutations in this gene are associated with impaired kidney podocyte function and nephrotic syndrome, and keratoderma and woolly hair. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb G C 7: 131,043,004 (GRCm39) R355T probably damaging Het
Ackr2 C T 9: 121,738,581 (GRCm39) R319C probably benign Het
Acot4 G A 12: 84,088,712 (GRCm39) A187T probably damaging Het
Adgrb2 A C 4: 129,906,350 (GRCm39) Q926P probably damaging Het
Adgrb3 T C 1: 25,571,658 (GRCm39) T420A probably damaging Het
Adra1b A T 11: 43,726,476 (GRCm39) V147E probably damaging Het
Bco1 A G 8: 117,832,498 (GRCm39) Y98C probably damaging Het
Car5a C T 8: 122,650,547 (GRCm39) V166M probably benign Het
Cdh5 T C 8: 104,839,541 (GRCm39) L4P possibly damaging Het
Clec12a A G 6: 129,330,762 (GRCm39) T115A probably damaging Het
Cmya5 G A 13: 93,210,956 (GRCm39) T3279I possibly damaging Het
Col4a4 C T 1: 82,517,709 (GRCm39) G105D unknown Het
Cyp2d34 A T 15: 82,500,295 (GRCm39) H481Q probably benign Het
Dhx15 A T 5: 52,327,422 (GRCm39) C307* probably null Het
Dnah9 A G 11: 65,740,887 (GRCm39) Y4100H probably damaging Het
Dock10 T C 1: 80,508,009 (GRCm39) N1647S probably benign Het
Duox1 T A 2: 122,177,861 (GRCm39) Y1548* probably null Het
Esyt1 T C 10: 128,352,238 (GRCm39) E763G probably benign Het
Fbh1 G T 2: 11,768,699 (GRCm39) D332E possibly damaging Het
Fndc8 G A 11: 82,790,355 (GRCm39) V275M probably damaging Het
Focad T G 4: 88,147,620 (GRCm39) Y420D probably benign Het
Gml A T 15: 74,688,280 (GRCm39) H62Q probably benign Het
Gpr158 A T 2: 21,832,129 (GRCm39) L1076F probably benign Het
Gpr161 A G 1: 165,134,136 (GRCm39) T133A possibly damaging Het
Gpr83 G T 9: 14,779,629 (GRCm39) C269F possibly damaging Het
Gsg1l A T 7: 125,509,369 (GRCm39) I256K possibly damaging Het
Hao1 T A 2: 134,372,584 (GRCm39) R141S probably benign Het
Hnf1a G A 5: 115,098,254 (GRCm39) A116V probably damaging Het
Hrh4 A T 18: 13,155,261 (GRCm39) T267S probably damaging Het
Igfals A T 17: 25,099,278 (GRCm39) N123I probably benign Het
Iglon5 T A 7: 43,128,545 (GRCm39) T91S probably benign Het
Impg2 A T 16: 56,087,583 (GRCm39) N1134I possibly damaging Het
Incenp A G 19: 9,850,093 (GRCm39) V860A possibly damaging Het
Irf5 A T 6: 29,536,672 (GRCm39) H461L possibly damaging Het
Itpr2 A G 6: 146,229,830 (GRCm39) L1255P probably damaging Het
Kcnma1 C A 14: 23,380,997 (GRCm39) D903Y probably damaging Het
Kcnn3 A T 3: 89,428,301 (GRCm39) M176L possibly damaging Het
Mccc1 A T 3: 36,039,150 (GRCm39) I281N probably damaging Het
Mms19 G A 19: 41,942,116 (GRCm39) A584V probably benign Het
Mon2 A T 10: 122,882,216 (GRCm39) D184E probably damaging Het
Mrpl1 T C 5: 96,374,202 (GRCm39) V159A possibly damaging Het
Mtrex C A 13: 113,049,633 (GRCm39) probably null Het
Myo18a C T 11: 77,709,597 (GRCm39) T190I probably benign Het
Myo7a A T 7: 97,725,938 (GRCm39) M1038K probably damaging Het
Myrfl T A 10: 116,668,852 (GRCm39) I304F probably damaging Het
Neo1 G A 9: 58,824,314 (GRCm39) R705* probably null Het
Nfat5 T C 8: 108,093,966 (GRCm39) S736P probably benign Het
Nlrp4c C T 7: 6,068,765 (GRCm39) P222L probably damaging Het
Nmt1 T A 11: 102,955,664 (GRCm39) W481R probably damaging Het
Ntrk3 T A 7: 77,897,049 (GRCm39) I663L probably damaging Het
Nup210l A T 3: 90,061,864 (GRCm39) E681V probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or4c105 A T 2: 88,648,402 (GRCm39) I296F probably benign Het
Or55b3 A G 7: 102,126,720 (GRCm39) L119P probably damaging Het
Or56b1b A T 7: 108,164,282 (GRCm39) V240D probably benign Het
Pald1 ATGCTGCTGCTGCTGC ATGCTGCTGCTGC 10: 61,191,701 (GRCm39) probably benign Het
Ppm1e T C 11: 87,122,521 (GRCm39) T479A probably damaging Het
Ppp1r7 A G 1: 93,288,518 (GRCm39) E298G probably benign Het
Pramel29 G A 4: 143,936,180 (GRCm39) P27S probably damaging Het
Prkaca T C 8: 84,717,616 (GRCm39) probably null Het
Prss36 A G 7: 127,532,664 (GRCm39) V718A probably damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Rnf182 G A 13: 43,822,010 (GRCm39) W187* probably null Het
Rrp12 G C 19: 41,868,920 (GRCm39) D519E possibly damaging Het
Rufy4 T C 1: 74,173,279 (GRCm39) L415P probably damaging Het
Ryk T A 9: 102,765,706 (GRCm39) D335E probably benign Het
S100a11 A T 3: 93,433,428 (GRCm39) I91F probably benign Het
Scin T C 12: 40,118,922 (GRCm39) R625G possibly damaging Het
Simc1 T A 13: 54,672,452 (GRCm39) C267S probably benign Het
Slc28a1 T C 7: 80,787,950 (GRCm39) V279A possibly damaging Het
Slc30a8 T A 15: 52,194,953 (GRCm39) probably null Het
Slco6d1 A G 1: 98,348,941 (GRCm39) D4G probably damaging Het
Tmem127 G A 2: 127,098,094 (GRCm39) probably null Het
Trpm1 G A 7: 63,884,755 (GRCm39) R812H probably damaging Het
Tsga10 T A 1: 37,874,661 (GRCm39) I75F probably damaging Het
Tyms C T 5: 30,267,014 (GRCm39) probably null Het
Ubr4 A G 4: 139,153,008 (GRCm39) probably null Het
Unc45a A G 7: 79,981,488 (GRCm39) V438A possibly damaging Het
Usf2 T C 7: 30,654,765 (GRCm39) D110G probably damaging Het
Vit T C 17: 78,853,875 (GRCm39) probably null Het
Vmn2r104 A T 17: 20,262,497 (GRCm39) M211K probably damaging Het
Vmn2r11 T C 5: 109,199,938 (GRCm39) H505R probably benign Het
Vmn2r77 G A 7: 86,450,821 (GRCm39) A236T probably damaging Het
Xpo1 T C 11: 23,235,155 (GRCm39) M608T probably benign Het
Zfp112 T C 7: 23,824,385 (GRCm39) F116L probably damaging Het
Zfp84 A G 7: 29,476,768 (GRCm39) T487A possibly damaging Het
Zfpl1 A C 19: 6,131,901 (GRCm39) L241R probably benign Het
Other mutations in Kank2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00788:Kank2 APN 9 21,691,775 (GRCm39) splice site probably benign
IGL01574:Kank2 APN 9 21,705,900 (GRCm39) missense probably damaging 1.00
IGL01624:Kank2 APN 9 21,691,676 (GRCm39) missense probably damaging 1.00
IGL02752:Kank2 APN 9 21,706,329 (GRCm39) missense probably damaging 1.00
IGL03116:Kank2 APN 9 21,684,060 (GRCm39) missense probably damaging 0.96
IGL03133:Kank2 APN 9 21,706,937 (GRCm39) missense probably null 0.82
IGL03384:Kank2 APN 9 21,685,874 (GRCm39) missense possibly damaging 0.82
PIT4515001:Kank2 UTSW 9 21,706,179 (GRCm39) missense probably benign
R0054:Kank2 UTSW 9 21,685,970 (GRCm39) nonsense probably null
R0480:Kank2 UTSW 9 21,691,195 (GRCm39) missense probably damaging 1.00
R1270:Kank2 UTSW 9 21,684,056 (GRCm39) missense probably damaging 1.00
R1538:Kank2 UTSW 9 21,685,927 (GRCm39) missense probably damaging 0.99
R1574:Kank2 UTSW 9 21,685,871 (GRCm39) missense probably damaging 1.00
R1574:Kank2 UTSW 9 21,685,871 (GRCm39) missense probably damaging 1.00
R1602:Kank2 UTSW 9 21,681,133 (GRCm39) missense probably damaging 1.00
R1941:Kank2 UTSW 9 21,684,162 (GRCm39) missense possibly damaging 0.69
R1976:Kank2 UTSW 9 21,705,857 (GRCm39) missense probably damaging 0.97
R2276:Kank2 UTSW 9 21,681,080 (GRCm39) missense probably damaging 1.00
R2278:Kank2 UTSW 9 21,681,080 (GRCm39) missense probably damaging 1.00
R2303:Kank2 UTSW 9 21,681,061 (GRCm39) missense probably benign 0.12
R4085:Kank2 UTSW 9 21,706,415 (GRCm39) missense probably damaging 1.00
R4163:Kank2 UTSW 9 21,706,864 (GRCm39) missense probably damaging 1.00
R4204:Kank2 UTSW 9 21,706,923 (GRCm39) missense probably damaging 1.00
R4461:Kank2 UTSW 9 21,706,041 (GRCm39) nonsense probably null
R4738:Kank2 UTSW 9 21,685,915 (GRCm39) missense probably damaging 1.00
R4811:Kank2 UTSW 9 21,687,043 (GRCm39) missense probably damaging 1.00
R4859:Kank2 UTSW 9 21,691,078 (GRCm39) missense probably benign 0.13
R5838:Kank2 UTSW 9 21,706,689 (GRCm39) missense probably damaging 0.99
R6449:Kank2 UTSW 9 21,691,858 (GRCm39) missense possibly damaging 0.68
R7131:Kank2 UTSW 9 21,705,975 (GRCm39) missense probably benign 0.02
R8724:Kank2 UTSW 9 21,705,917 (GRCm39) missense possibly damaging 0.68
R9040:Kank2 UTSW 9 21,706,115 (GRCm39) missense probably damaging 1.00
R9139:Kank2 UTSW 9 21,681,370 (GRCm39) missense probably damaging 1.00
R9508:Kank2 UTSW 9 21,687,076 (GRCm39) missense probably damaging 1.00
R9563:Kank2 UTSW 9 21,705,852 (GRCm39) missense possibly damaging 0.94
R9564:Kank2 UTSW 9 21,706,631 (GRCm39) missense probably damaging 1.00
R9564:Kank2 UTSW 9 21,705,852 (GRCm39) missense possibly damaging 0.94
Z1177:Kank2 UTSW 9 21,706,545 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGAACGGGGATCAGCTTGAC -3'
(R):5'- ACCGTACTCAGTGGAAACGC -3'

Sequencing Primer
(F):5'- GGATCAGCTTGACCTGCTC -3'
(R):5'- GTACTCAGTGGAAACGCCCTATG -3'
Posted On 2014-06-23