Incidental Mutation 'R8724:Kank2'
ID 662290
Institutional Source Beutler Lab
Gene Symbol Kank2
Ensembl Gene ENSMUSG00000032194
Gene Name KN motif and ankyrin repeat domains 2
Synonyms Ankrd25
MMRRC Submission 068573-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.242) question?
Stock # R8724 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 21678069-21709842 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 21705917 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 367 (K367T)
Ref Sequence ENSEMBL: ENSMUSP00000034717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034717] [ENSMUST00000213691] [ENSMUST00000216008]
AlphaFold Q8BX02
Predicted Effect possibly damaging
Transcript: ENSMUST00000034717
AA Change: K367T

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: K367T

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: ENSMUST00000213691
Predicted Effect possibly damaging
Transcript: ENSMUST00000216008
AA Change: K367T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (69/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl4 C T 3: 95,584,426 (GRCm39) R990Q possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Ank2 A T 3: 126,737,405 (GRCm39) D2826E unknown Het
Asb3 A T 11: 31,051,120 (GRCm39) I486F probably damaging Het
Atg4b A T 1: 93,696,023 (GRCm39) Y54F probably damaging Het
Atp1a2 T A 1: 172,106,945 (GRCm39) I792F probably benign Het
Bltp1 G A 3: 36,945,042 (GRCm39) V334I probably damaging Het
Ccser1 A C 6: 61,288,199 (GRCm39) S121R probably damaging Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Cep120 A T 18: 53,856,199 (GRCm39) V406E possibly damaging Het
Ces2g C A 8: 105,692,955 (GRCm39) A331D probably benign Het
Csnk1g2 G A 10: 80,474,760 (GRCm39) R299H probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dock10 T G 1: 80,570,344 (GRCm39) I371L probably benign Het
Dpp9 T A 17: 56,512,867 (GRCm39) T114S probably benign Het
Dusp13b T C 14: 21,796,475 (GRCm39) R160G probably benign Het
Dync2i2 T C 2: 29,923,961 (GRCm39) D188G probably benign Het
Edem3 A G 1: 151,651,624 (GRCm39) K122R possibly damaging Het
Ehbp1l1 A G 19: 5,765,886 (GRCm39) S1486P possibly damaging Het
Elf3 A G 1: 135,182,098 (GRCm39) I361T probably damaging Het
Epha3 C T 16: 63,403,818 (GRCm39) C761Y probably damaging Het
Ephb2 A G 4: 136,498,368 (GRCm39) I237T probably damaging Het
Eya1 A T 1: 14,279,206 (GRCm39) D346E probably benign Het
Fat2 T C 11: 55,173,786 (GRCm39) Y2309C probably damaging Het
Fbn1 T C 2: 125,202,066 (GRCm39) D1269G probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,436,769 (GRCm39) probably benign Het
Fnbp4 T C 2: 90,577,097 (GRCm39) V143A probably damaging Het
Foxo6 A G 4: 120,144,109 (GRCm39) I114T probably damaging Het
Gm6741 T C 17: 91,544,564 (GRCm39) I109T probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Hsf1 C T 15: 76,381,999 (GRCm39) S199L probably damaging Het
Htr3a T C 9: 48,815,981 (GRCm39) N152S probably damaging Het
Ikzf2 T A 1: 69,617,100 (GRCm39) E82D probably benign Het
Kif20b T A 19: 34,916,146 (GRCm39) probably benign Het
Ktn1 G A 14: 47,931,335 (GRCm39) V643I probably benign Het
Lipk G A 19: 33,996,120 (GRCm39) V11M probably benign Het
Med4 T A 14: 73,751,249 (GRCm39) L66* probably null Het
Mtus1 T C 8: 41,451,500 (GRCm39) K379E probably damaging Het
Nat1 T A 8: 67,944,443 (GRCm39) I276N probably damaging Het
Nav2 G A 7: 49,141,184 (GRCm39) V910M possibly damaging Het
Or10ag53 T A 2: 87,082,704 (GRCm39) I141N probably damaging Het
Or4a80 A T 2: 89,582,373 (GRCm39) D266E probably damaging Het
Pcdh9 A G 14: 94,124,583 (GRCm39) V529A probably benign Het
Pcdhga7 C T 18: 37,848,146 (GRCm39) T51I probably benign Het
Pdcd1 A G 1: 93,968,956 (GRCm39) Y121H probably damaging Het
Pdia6 A G 12: 17,333,982 (GRCm39) D438G unknown Het
Pgm1 A G 4: 99,786,964 (GRCm39) T68A probably benign Het
Pik3c2g G A 6: 139,913,619 (GRCm39) V1006I unknown Het
Plk4 C T 3: 40,768,022 (GRCm39) T855I probably damaging Het
Pnldc1 T A 17: 13,111,703 (GRCm39) N335Y probably damaging Het
Prkcq C T 2: 11,304,784 (GRCm39) P658S probably benign Het
Rbl2 T C 8: 91,841,837 (GRCm39) I1011T possibly damaging Het
Rev1 A C 1: 38,127,150 (GRCm39) V370G probably damaging Het
Rtn4 A G 11: 29,643,316 (GRCm39) E43G unknown Het
Rtp2 C T 16: 23,746,064 (GRCm39) G189D possibly damaging Het
Ryr1 G A 7: 28,816,802 (GRCm39) A78V probably benign Het
Sel1l3 A C 5: 53,293,165 (GRCm39) Y850* probably null Het
Senp3 T C 11: 69,564,419 (GRCm39) Q547R probably damaging Het
Siglecf T C 7: 43,004,976 (GRCm39) L402P probably damaging Het
Slc24a1 T C 9: 64,855,453 (GRCm39) I485V probably benign Het
Slc45a2 T A 15: 11,012,610 (GRCm39) H204Q probably benign Het
Slc9a4 T G 1: 40,623,301 (GRCm39) I180S probably damaging Het
Smyd1 T A 6: 71,193,767 (GRCm39) Y420F probably damaging Het
Sorcs1 A G 19: 50,139,658 (GRCm39) I1168T probably benign Het
Syne1 T C 10: 5,033,861 (GRCm39) E7737G possibly damaging Het
Trappc4 T A 9: 44,316,560 (GRCm39) H145L probably benign Het
Wdr75 T A 1: 45,856,560 (GRCm39) W528R probably damaging Het
Zc3h13 T C 14: 75,569,512 (GRCm39) V1453A probably benign Het
Zfp143 T C 7: 109,681,110 (GRCm39) I318T probably benign Het
Zfp846 G A 9: 20,505,352 (GRCm39) R404H possibly damaging 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
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
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'- GGACTCCCCAATCATGTCACTC -3'
(R):5'- TAAAGTGGCCGTGTTGGAGAC -3'

Sequencing Primer
(F):5'- ACTCACCTGTCATCCTGGGTG -3'
(R):5'- GTGTTGGAGACCCAGCTC -3'
Posted On 2021-03-08