Incidental Mutation 'R2278:Kank2'
ID 242910
Institutional Source Beutler Lab
Gene Symbol Kank2
Ensembl Gene ENSMUSG00000032194
Gene Name KN motif and ankyrin repeat domains 2
Synonyms Ankrd25
MMRRC Submission 040277-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R2278 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 21678069-21709842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 21681080 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 816 (M816I)
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: M816I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: M816I

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
Meta Mutation Damage Score 0.0900 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,201,400 (GRCm39) D251G probably damaging Het
Aqp3 T C 4: 41,093,836 (GRCm39) D219G probably damaging Het
Arhgef15 C A 11: 68,842,517 (GRCm39) W404C probably damaging Het
Bdp1 T A 13: 100,197,847 (GRCm39) E846V probably damaging Het
Bdp1 C A 13: 100,197,838 (GRCm39) S849I probably benign Het
Bmp5 T A 9: 75,683,830 (GRCm39) N152K possibly damaging Het
Bpifb2 C T 2: 153,720,399 (GRCm39) Q53* probably null Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Clca3a1 A G 3: 144,463,785 (GRCm39) V164A probably damaging Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Gcn1 T C 5: 115,749,234 (GRCm39) I1922T probably damaging Het
Gnpat A G 8: 125,603,659 (GRCm39) D179G probably benign Het
Hook1 A G 4: 95,886,957 (GRCm39) Q188R probably benign Het
Hsf4 G A 8: 105,996,628 (GRCm39) D18N probably null Het
Ifi44 T C 3: 151,438,025 (GRCm39) N421D probably benign Het
Igdcc4 C T 9: 65,038,025 (GRCm39) T801I probably damaging Het
Itgad T C 7: 127,804,342 (GRCm39) S107P possibly damaging Het
Kcnk18 T C 19: 59,223,926 (GRCm39) I357T probably damaging Het
Kcnma1 T A 14: 23,593,151 (GRCm39) R120* probably null Het
Lgi4 T G 7: 30,760,037 (GRCm39) L78V probably damaging Het
Lypla1 T G 1: 4,911,321 (GRCm39) probably null Het
Mknk1 C T 4: 115,732,690 (GRCm39) A306V probably damaging Het
Ncoa6 A T 2: 155,249,570 (GRCm39) S1245T possibly damaging Het
Npas3 T A 12: 53,687,285 (GRCm39) V122E possibly damaging Het
Nrxn2 G C 19: 6,531,883 (GRCm39) Q789H probably damaging Het
Or2h1b A T 17: 37,462,145 (GRCm39) C239* probably null Het
Or3a1 T C 11: 74,225,991 (GRCm39) E22G probably benign Het
Or5p69 T C 7: 107,967,288 (GRCm39) V197A probably benign Het
Or5w12 A G 2: 87,502,289 (GRCm39) C141R possibly damaging Het
Otog G A 7: 45,949,468 (GRCm39) V2369M probably damaging Het
Pfkp T C 13: 6,669,245 (GRCm39) probably null Het
Pja2 T C 17: 64,599,865 (GRCm39) S478G probably damaging Het
Prune2 A G 19: 17,095,919 (GRCm39) I474M possibly damaging Het
Psg22 C A 7: 18,460,762 (GRCm39) Q464K possibly damaging Het
Rp1 C T 1: 4,418,250 (GRCm39) S954N possibly damaging Het
Rps27l T A 9: 66,854,208 (GRCm39) D34E probably benign Het
Sae1 A C 7: 16,104,291 (GRCm39) L106R probably damaging Het
Siglec1 T A 2: 130,913,257 (GRCm39) Q1553L probably benign Het
Slc11a2 A G 15: 100,307,962 (GRCm39) probably null Het
Slc14a2 A T 18: 78,203,159 (GRCm39) M556K probably benign Het
Slk T G 19: 47,608,188 (GRCm39) I380M probably damaging Het
Spink5 A G 18: 44,119,396 (GRCm39) N236D probably benign Het
Syne2 A G 12: 75,974,240 (GRCm39) E1146G possibly damaging Het
Tiam2 G A 17: 3,477,495 (GRCm39) V573M probably damaging Het
Tmem170 C A 8: 112,596,349 (GRCm39) V59L probably benign Het
Tmem255b C T 8: 13,501,081 (GRCm39) A106V probably damaging Het
Ttc23l A G 15: 10,523,678 (GRCm39) I347T possibly damaging Het
Vps13c A G 9: 67,846,354 (GRCm39) M2141V probably benign Het
Vwa5a T C 9: 38,634,503 (GRCm39) Y143H probably damaging Het
Zfp280d T A 9: 72,246,055 (GRCm39) C707* probably null Het
Zfp668 A T 7: 127,465,998 (GRCm39) N395K probably benign Het
Znhit6 G T 3: 145,281,991 (GRCm39) 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
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'- TAATCCTGGCCTGCCCAAAC -3'
(R):5'- CTGTGCCTAGCTGTGACATC -3'

Sequencing Primer
(F):5'- CCTCACTGGGGGATTCTAGCTAG -3'
(R):5'- AGCTGTGACATCTCACTCACTGAC -3'
Posted On 2014-10-16