Incidental Mutation 'R4738:Kank2'
ID 359441
Institutional Source Beutler Lab
Gene Symbol Kank2
Ensembl Gene ENSMUSG00000032194
Gene Name KN motif and ankyrin repeat domains 2
Synonyms Ankrd25
MMRRC Submission 041964-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R4738 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21678069-21709842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21685915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 653 (N653S)
Ref Sequence ENSEMBL: ENSMUSP00000034717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000216008]
AlphaFold Q8BX02
Predicted Effect probably damaging
Transcript: ENSMUST00000034717
AA Change: N653S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: N653S

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: ENSMUST00000216008
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.3%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 A G 5: 105,121,849 (GRCm39) I176T probably benign Het
Abtb3 C T 10: 85,463,112 (GRCm39) Q626* probably null Het
Angpt2 C T 8: 18,791,075 (GRCm39) D74N probably benign Het
Apol10a C T 15: 77,372,841 (GRCm39) T159I possibly damaging Het
Areg T C 5: 91,294,583 (GRCm39) I247T possibly damaging Het
Atg16l2 A G 7: 100,946,385 (GRCm39) L129P probably damaging Het
Atp6v1b2 T A 8: 69,556,062 (GRCm39) S246T probably benign Het
Atp8b1 T C 18: 64,678,251 (GRCm39) R882G probably benign Het
Atp9a A G 2: 168,510,101 (GRCm39) V444A probably benign Het
Babam2 T A 5: 32,058,486 (GRCm39) Y211N probably damaging Het
Ccdc127 T G 13: 74,505,187 (GRCm39) probably benign Het
Cep192 A T 18: 68,017,901 (GRCm39) K2500* probably null Het
Cnot4 T C 6: 35,028,311 (GRCm39) N435S probably benign Het
Col12a1 T C 9: 79,606,564 (GRCm39) I620V probably damaging Het
Cyth4 G A 15: 78,490,074 (GRCm39) M62I probably benign Het
Dbt T C 3: 116,332,781 (GRCm39) I200T probably damaging Het
Dchs1 C T 7: 105,407,880 (GRCm39) R1984Q probably damaging Het
Depdc5 A G 5: 33,132,666 (GRCm39) M1237V probably benign Het
Disp2 A G 2: 118,620,807 (GRCm39) Y513C probably damaging Het
Dph7 T C 2: 24,853,143 (GRCm39) S86P possibly damaging Het
Eif3b T A 5: 140,415,833 (GRCm39) M384K probably benign Het
Emc1 G T 4: 139,089,513 (GRCm39) G227V possibly damaging Het
Eri2 A G 7: 119,386,955 (GRCm39) probably null Het
Frzb A G 2: 80,254,941 (GRCm39) probably null Het
Ganc T A 2: 120,283,075 (GRCm39) V743D probably damaging Het
Gfpt1 C A 6: 87,031,729 (GRCm39) probably benign Het
Gm3086 A T 12: 70,016,155 (GRCm39) probably benign Het
Gsdmc2 A T 15: 63,698,650 (GRCm39) Y315* probably null Het
Haus6 A G 4: 86,518,986 (GRCm39) probably null Het
Hhip C T 8: 80,719,199 (GRCm39) D443N probably damaging Het
Isg15 T C 4: 156,284,319 (GRCm39) M70V probably benign Het
Klhdc1 G T 12: 69,329,907 (GRCm39) R345S probably benign Het
Larp7 A G 3: 127,339,694 (GRCm39) probably null Het
Lgals12 A G 19: 7,581,464 (GRCm39) V81A probably benign Het
Lhx9 A G 1: 138,760,486 (GRCm39) L288P probably damaging Het
Mcpt9 T A 14: 56,264,456 (GRCm39) H213L probably damaging Het
Met T C 6: 17,491,540 (GRCm39) C101R probably damaging Het
Myo16 G T 8: 10,423,527 (GRCm39) G288W probably damaging Het
Neb A C 2: 52,077,494 (GRCm39) S1846A probably damaging Het
Nr3c2 T C 8: 77,635,936 (GRCm39) S346P possibly damaging Het
Obi1 C T 14: 104,747,819 (GRCm39) D43N probably damaging Het
Or10h5 A G 17: 33,434,784 (GRCm39) F178S probably benign Het
Or1e1c G T 11: 73,266,176 (GRCm39) L200F possibly damaging Het
Or51e1 T A 7: 102,359,378 (GRCm39) I304N probably damaging Het
Or5h19 T C 16: 58,856,558 (GRCm39) I181V probably benign Het
Or5p63 A T 7: 107,811,201 (GRCm39) N178K probably damaging Het
Osbpl10 A G 9: 115,045,642 (GRCm39) E426G probably damaging Het
Ovgp1 T C 3: 105,887,234 (GRCm39) V210A probably damaging Het
Pam A T 1: 97,850,857 (GRCm39) V167D probably damaging Het
Pappa2 T C 1: 158,784,582 (GRCm39) R143G probably benign Het
Pbx4 C T 8: 70,317,619 (GRCm39) T201M probably damaging Het
Pcdhb9 T C 18: 37,536,468 (GRCm39) C821R probably benign Het
Plekhg3 T C 12: 76,623,688 (GRCm39) I976T probably damaging Het
Pold1 G A 7: 44,190,753 (GRCm39) R304C probably damaging Het
Prss38 T C 11: 59,263,771 (GRCm39) T314A probably benign Het
Psph T C 5: 129,846,450 (GRCm39) probably null Het
Ptprj G A 2: 90,270,987 (GRCm39) P1247L probably damaging Het
Rab3gap1 A G 1: 127,862,173 (GRCm39) E648G probably damaging Het
Ralgds A G 2: 28,435,428 (GRCm39) E465G probably damaging Het
Rfng T C 11: 120,674,790 (GRCm39) T67A probably damaging Het
Rps6kl1 G T 12: 85,187,161 (GRCm39) F181L probably benign Het
Spata46 G A 1: 170,139,455 (GRCm39) M151I possibly damaging Het
Ssbp1 T A 6: 40,454,914 (GRCm39) N124K probably damaging Het
Sspo C T 6: 48,455,330 (GRCm39) A3064V possibly damaging Het
Tbc1d8 G A 1: 39,441,959 (GRCm39) T211I possibly damaging Het
Tdpoz4 T C 3: 93,704,396 (GRCm39) I231T probably damaging Het
Tff3 G A 17: 31,346,483 (GRCm39) P30S probably benign Het
Thg1l C T 11: 45,845,018 (GRCm39) R18Q probably damaging Het
Tlk2 T A 11: 105,147,708 (GRCm39) H369Q probably benign Het
Tnfaip8 A G 18: 50,223,569 (GRCm39) T14A probably damaging Het
Tspan17 T A 13: 54,942,877 (GRCm39) C116* probably null Het
Ttn T C 2: 76,710,890 (GRCm39) probably benign Het
Tyr T C 7: 87,141,855 (GRCm39) Y158C probably null Het
U2af1l4 G T 7: 30,262,773 (GRCm39) probably benign Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn2r86 T A 10: 130,282,939 (GRCm39) D559V probably damaging Het
Wfikkn2 T A 11: 94,129,902 (GRCm39) T80S probably benign Het
Zdhhc2 T A 8: 40,917,183 (GRCm39) probably null Het
Zfp521 T C 18: 13,977,111 (GRCm39) K1101E possibly damaging Het
Zfp595 A T 13: 67,465,229 (GRCm39) F345I probably benign Het
Zswim2 T A 2: 83,745,739 (GRCm39) R566S 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
R1827:Kank2 UTSW 9 21,706,761 (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
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'- CATCAGACTGTGAAGGGAGC -3'
(R):5'- CTTGGATCTTTGGGCAGACG -3'

Sequencing Primer
(F):5'- CAGGGGCTTTCGACCAGGAAG -3'
(R):5'- ATCTTTGGGCAGACGGGGATG -3'
Posted On 2015-11-11