Mutagenetix > Incidental Mutation

Incidental Mutation 'R5838:Kank2'

449729

Institutional Source

Beutler Lab

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

MMRRC Submission

044058-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R5838 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

21678069-21709842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21706689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 110 (Q110K)

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: Q110K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: Q110K

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: Q110K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000217336

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace	G	A	11: 105,863,706 (GRCm39)	V385I	probably benign	Het
Apmap	T	C	2: 150,427,777 (GRCm39)	Y315C	probably damaging	Het
Arhgef12	G	A	9: 42,916,904 (GRCm39)	T414I	probably damaging	Het
Cd200r1	C	A	16: 44,586,397 (GRCm39)	A9D	possibly damaging	Het
Cdkal1	T	C	13: 29,875,669 (GRCm39)	D183G	probably benign	Het
Clk1	C	A	1: 58,451,819 (GRCm39)	C432F	probably damaging	Het
Col27a1	G	T	4: 63,143,765 (GRCm39)	L484F	probably damaging	Het
Col7a1	A	G	9: 108,807,211 (GRCm39)	E2480G	unknown	Het
Dnah5	A	G	15: 28,290,341 (GRCm39)	I1244V	probably benign	Het
Dock3	G	T	9: 106,772,687 (GRCm39)	P522Q	possibly damaging	Het
Drc1	T	A	5: 30,523,857 (GRCm39)		probably null	Het
Epas1	C	T	17: 87,131,114 (GRCm39)	T298I	possibly damaging	Het
Epha1	A	T	6: 42,338,580 (GRCm39)	I699N	probably damaging	Het
Ephb3	T	C	16: 21,040,437 (GRCm39)	S558P	probably damaging	Het
Epn1	T	A	7: 5,100,165 (GRCm39)	L426*	probably null	Het
Fam234b	T	C	6: 135,202,265 (GRCm39)	V329A	probably benign	Het
Fasn	G	T	11: 120,706,950 (GRCm39)	R901S	probably damaging	Het
Fbln2	T	C	6: 91,248,830 (GRCm39)	M1165T	possibly damaging	Het
Fer1l4	T	C	2: 155,893,913 (GRCm39)	R103G	probably benign	Het
G6pd2	T	A	5: 61,966,568 (GRCm39)	D114E	probably benign	Het
Galnt10	A	G	11: 57,671,882 (GRCm39)	K391E	probably damaging	Het
Gpr150	C	A	13: 76,204,045 (GRCm39)	C300F	probably benign	Het
Hhipl2	A	G	1: 183,204,479 (GRCm39)	T151A	probably damaging	Het
Hmcn2	C	A	2: 31,347,819 (GRCm39)	L4822M	probably damaging	Het
Ifi207	T	A	1: 173,559,953 (GRCm39)	Q173L	unknown	Het
Inca1	T	C	11: 70,580,707 (GRCm39)	E86G	probably damaging	Het
Iqca1	A	G	1: 90,072,667 (GRCm39)	L71P	probably benign	Het
Katnip	A	T	7: 125,466,827 (GRCm39)	M1361L	possibly damaging	Het
Kif13b	A	T	14: 64,975,004 (GRCm39)	M407L	probably damaging	Het
Kif5a	A	C	10: 127,081,310 (GRCm39)	I208S	probably damaging	Het
Kmt2c	T	C	5: 25,489,469 (GRCm39)	K4490R	probably damaging	Het
Ltbp2	C	T	12: 84,835,875 (GRCm39)	R1352H	probably benign	Het
Macf1	T	C	4: 123,345,947 (GRCm39)	Q2061R	possibly damaging	Het
Marcks	A	G	10: 37,012,163 (GRCm39)	S291P	probably benign	Het
Mccc1	A	G	3: 36,039,231 (GRCm39)	V254A	possibly damaging	Het
Mdn1	C	T	4: 32,754,547 (GRCm39)	R4683W	probably damaging	Het
Mon2	A	G	10: 122,846,397 (GRCm39)		probably null	Het
Ndrg4	A	T	8: 96,433,421 (GRCm39)	H134L	probably damaging	Het
Nek7	C	A	1: 138,462,101 (GRCm39)		probably null	Het
Nlrc3	C	T	16: 3,771,859 (GRCm39)	S151N	probably damaging	Het
Nsl1	C	A	1: 190,802,310 (GRCm39)	A146E	probably benign	Het
Or10a3n	A	T	7: 108,493,292 (GRCm39)	F107L	probably benign	Het
Or2y1e	A	C	11: 49,218,760 (GRCm39)	N174T	probably damaging	Het
Or52ac1	A	G	7: 104,246,104 (GRCm39)	Y95H	probably benign	Het
Or5b120	T	A	19: 13,479,922 (GRCm39)	Y72N	probably damaging	Het
Or6c210	A	T	10: 129,495,907 (GRCm39)	R77S	probably benign	Het
Pde4d	A	C	13: 109,876,976 (GRCm39)	S41R	probably damaging	Het
Phlpp1	T	A	1: 106,274,862 (GRCm39)	L875*	probably null	Het
Pkd1	T	A	17: 24,799,186 (GRCm39)	S2802T	possibly damaging	Het
Polr3b	A	G	10: 84,510,454 (GRCm39)	T500A	probably benign	Het
Ppp2r2c	T	C	5: 37,097,531 (GRCm39)	V239A	probably benign	Het
Pramel11	A	G	4: 143,623,490 (GRCm39)	V228A	probably benign	Het
Reln	T	A	5: 22,104,111 (GRCm39)	I3287F	probably damaging	Het
Scube2	T	C	7: 109,407,651 (GRCm39)	D763G	probably damaging	Het
Setd5	T	C	6: 113,096,396 (GRCm39)	V534A	probably benign	Het
Slc10a4	T	A	5: 73,169,373 (GRCm39)	C333S	probably benign	Het
Slc15a1	G	A	14: 121,722,283 (GRCm39)	A206V	probably damaging	Het
Snx14	A	G	9: 88,273,829 (GRCm39)	L654P	probably damaging	Het
Sowahc	G	A	10: 59,059,012 (GRCm39)	A383T	possibly damaging	Het
Taf1b	A	G	12: 24,550,448 (GRCm39)	D11G	possibly damaging	Het
Tap1	C	T	17: 34,412,279 (GRCm39)	Q164*	probably null	Het
Tbcel	T	A	9: 42,327,168 (GRCm39)	R430W	probably damaging	Het
Trappc11	A	T	8: 47,965,594 (GRCm39)		probably null	Het
Trim15	T	C	17: 37,173,732 (GRCm39)	I259V	probably damaging	Het
Trpt1	T	C	19: 6,975,668 (GRCm39)	S141P	probably damaging	Het
Tsc2	T	A	17: 24,832,190 (GRCm39)	Q732L	probably benign	Het
Tstd3	C	A	4: 21,759,622 (GRCm39)		probably null	Het
Unc13d	T	C	11: 115,955,451 (GRCm39)	K914R	possibly damaging	Het
Unk	A	G	11: 115,940,157 (GRCm39)	E170G	probably damaging	Het
Uqcc2	T	A	17: 27,344,860 (GRCm39)	K62*	probably null	Het
Vim	A	G	2: 13,585,001 (GRCm39)	D394G	probably damaging	Het
Wdr47	G	A	3: 108,532,052 (GRCm39)		probably null	Het

Other mutations in Kank2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GACATTGAGAAGGGCCACAC -3'

Sequencing Primer
(F):5'- GGATCAGCTTGACCTGCTC -3'
(R):5'- TGAGAAGGGCCACACACTGC -3'

Posted On

2016-12-20