Mutagenetix > Incidental Mutation

Incidental Mutation 'R2276:Kank2'

242816

Institutional Source

Beutler Lab

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

MMRRC Submission

040275-MU

Accession Numbers

Essential gene?

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

Stock #

R2276 (G1)

Quality Score

225

Status

Validated

Chromosome

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

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: ENSMUST00000216008

Meta Mutation Damage Score

0.0900

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	A	14: 78,747,477 (GRCm39)	I1637L	possibly damaging	Het
Ankrd27	T	C	7: 35,315,265 (GRCm39)		probably benign	Het
Anxa3	T	C	5: 96,978,349 (GRCm39)		probably null	Het
Arfgef2	G	C	2: 166,707,679 (GRCm39)	G1025A	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Arhgap42	T	C	9: 9,035,512 (GRCm39)	M277V	probably benign	Het
Cep112	A	T	11: 108,746,671 (GRCm39)	R176S	probably damaging	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cnga1	C	T	5: 72,776,404 (GRCm39)	V20I	possibly damaging	Het
Cpped1	A	C	16: 11,712,745 (GRCm39)		probably null	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Dbf4	T	C	5: 8,471,333 (GRCm39)	N36S	possibly damaging	Het
Dnah6	G	A	6: 73,090,564 (GRCm39)	S2210L	probably benign	Het
Dnajb12	C	T	10: 59,728,799 (GRCm39)	T229I	probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Epb41l2	T	C	10: 25,364,842 (GRCm39)		probably benign	Het
Fam178b	A	G	1: 36,671,539 (GRCm39)	L194P	probably damaging	Het
Fam50b	C	T	13: 34,930,823 (GRCm39)	Q100*	probably null	Het
Gimap9	A	G	6: 48,654,812 (GRCm39)	H133R	probably benign	Het
Gpbp1	A	T	13: 111,603,512 (GRCm39)		probably null	Het
Gpr89	A	G	3: 96,804,743 (GRCm39)	Y38H	probably damaging	Het
Gsdmc3	T	A	15: 63,732,105 (GRCm39)	Y307F	probably benign	Het
H4c16	T	A	6: 136,781,299 (GRCm39)	I27F	probably damaging	Het
Hip1	C	T	5: 135,485,900 (GRCm39)	R101K	probably damaging	Het
Hsf4	G	A	8: 105,996,628 (GRCm39)	D18N	probably null	Het
Igfn1	T	C	1: 135,892,479 (GRCm39)	K2214E	probably damaging	Het
Itgal	A	T	7: 126,927,919 (GRCm39)	E1038V	probably null	Het
Kctd15	T	C	7: 34,344,366 (GRCm39)	D95G	possibly damaging	Het
Kif1a	A	T	1: 92,996,199 (GRCm39)		probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Lrrc7	A	G	3: 157,885,429 (GRCm39)	F432L	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Nisch	T	C	14: 30,898,803 (GRCm39)		probably benign	Het
Or2h1b	A	T	17: 37,462,145 (GRCm39)	C239*	probably null	Het
Osbpl2	G	A	2: 179,790,319 (GRCm39)	G198S	possibly damaging	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Phactr1	A	T	13: 43,231,265 (GRCm39)	S244C	possibly damaging	Het
Pja2	T	C	17: 64,599,865 (GRCm39)	S478G	probably damaging	Het
Prex1	A	T	2: 166,419,875 (GRCm39)	I79N	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rars2	T	C	4: 34,656,835 (GRCm39)	S495P	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Rhou	T	C	8: 124,382,258 (GRCm39)	V100A	probably damaging	Het
Rpn2	A	G	2: 157,152,208 (GRCm39)	T394A	possibly damaging	Het
Ryr3	A	T	2: 112,479,664 (GRCm39)	M4386K	possibly damaging	Het
Scmh1	G	T	4: 120,340,869 (GRCm39)	C185F	probably damaging	Het
Sema3d	A	T	5: 12,592,549 (GRCm39)	Q326L	possibly damaging	Het
Sis	T	A	3: 72,821,934 (GRCm39)	K1376*	probably null	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Slc26a5	A	G	5: 22,028,545 (GRCm39)	V304A	probably benign	Het
Slc39a7	C	T	17: 34,250,241 (GRCm39)		probably benign	Het
Slco1a4	A	G	6: 141,761,308 (GRCm39)	V435A	possibly damaging	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tgm5	T	A	2: 120,879,304 (GRCm39)		probably benign	Het
Tgm7	A	G	2: 120,929,045 (GRCm39)	S284P	probably damaging	Het
Tmem132d	G	A	5: 127,872,987 (GRCm39)	R541W	probably damaging	Het
Tmem170	C	A	8: 112,596,349 (GRCm39)	V59L	probably benign	Het
Tpbgl	G	T	7: 99,275,233 (GRCm39)	A208E	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het
Ulk1	T	C	5: 110,936,028 (GRCm39)	E827G	probably benign	Het
Vps13a	A	G	19: 16,687,790 (GRCm39)	V886A	possibly damaging	Het
Wrn	A	T	8: 33,814,584 (GRCm39)	C44S	probably benign	Het
Zscan22	T	A	7: 12,640,750 (GRCm39)	C331*	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
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'- TAATCCTGGCCTGCCCAAAC -3'
(R):5'- AGCTGTGACATCTCACTCACTG -3'

Sequencing Primer
(F):5'- CCTCACTGGGGGATTCTAGCTAG -3'
(R):5'- TCACTCACTGACCGCGTGAG -3'

Posted On

2014-10-16