Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Kank2'

369437

Institutional Source

Beutler Lab

Gene Symbol

Kank2

Ensembl Gene

ENSMUSG00000032194

Gene Name

KN motif and ankyrin repeat domains 2

Synonyms

Ankrd25

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

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

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21678069-21709842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21687043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 593 (L593P)

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: L593P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034717
Gene: ENSMUSG00000032194
AA Change: L593P

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,952 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,201,740 (GRCm39)	G208R	probably benign	Het
Arsg	G	T	11: 109,424,898 (GRCm39)	V290L	probably benign	Het
Cad	A	G	5: 31,232,034 (GRCm39)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm39)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,877 (GRCm39)	T113A	probably benign	Het
Crocc2	G	A	1: 93,133,618 (GRCm39)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,764,080 (GRCm39)	T291A	probably benign	Het
Dcc	T	A	18: 71,432,554 (GRCm39)	H1300L	probably benign	Het
Ddx23	T	A	15: 98,545,352 (GRCm39)		probably null	Het
Dnhd1	T	G	7: 105,363,488 (GRCm39)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,293,703 (GRCm39)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,296,886 (GRCm39)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,178,118 (GRCm39)	V403M	probably benign	Het
Fam227a	T	C	15: 79,499,628 (GRCm39)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,111,167 (GRCm39)		probably null	Het
Fbxw17	T	C	13: 50,579,669 (GRCm39)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,014,436 (GRCm39)	I8S	probably damaging	Het
Golgb1	T	C	16: 36,711,781 (GRCm39)	L195P	probably damaging	Het
Gps2	A	T	11: 69,806,754 (GRCm39)	H233L	probably damaging	Het
Guf1	T	G	5: 69,721,852 (GRCm39)		probably null	Het
H2-T9	A	G	17: 36,438,668 (GRCm39)	L241S	probably damaging	Het
Il1rap	T	A	16: 26,519,988 (GRCm39)		probably null	Het
Ints14	A	G	9: 64,871,800 (GRCm39)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,177,339 (GRCm39)	Q293H	probably damaging	Het
Krt19	T	C	11: 100,032,174 (GRCm39)	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,437,848 (GRCm39)	V86A	probably damaging	Het
Lins1	T	A	7: 66,357,898 (GRCm39)	I11K	probably benign	Het
Lrba	T	C	3: 86,683,448 (GRCm39)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,951,685 (GRCm39)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,525,851 (GRCm39)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,853,175 (GRCm39)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,815,922 (GRCm39)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,048,825 (GRCm39)		probably null	Het
Naip6	C	A	13: 100,422,299 (GRCm39)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,584,645 (GRCm39)	T107I	probably benign	Het
Nek8	C	T	11: 78,058,544 (GRCm39)		probably null	Het
Nphs1	T	C	7: 30,159,854 (GRCm39)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,758,240 (GRCm39)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,933,448 (GRCm39)	S39N	probably damaging	Het
Or13g1	T	C	7: 85,956,166 (GRCm39)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or5d37	A	G	2: 87,923,876 (GRCm39)	F135L	probably benign	Het
Or7h8	A	T	9: 20,124,049 (GRCm39)	I135F	probably damaging	Het
Pan3	T	A	5: 147,466,868 (GRCm39)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,243,842 (GRCm39)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,685,375 (GRCm39)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,830,606 (GRCm39)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,844 (GRCm39)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,290,936 (GRCm39)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,071,738 (GRCm39)	I186T	probably damaging	Het
Pnkd	G	A	1: 74,388,564 (GRCm39)		probably null	Het
Poc1a	A	G	9: 106,226,908 (GRCm39)	T334A	probably damaging	Het
Pou2f2	T	A	7: 24,797,111 (GRCm39)	K211*	probably null	Het
Rdh13	T	C	7: 4,445,652 (GRCm39)	E94G	probably benign	Het
Rnf186	A	G	4: 138,694,498 (GRCm39)	S13G	probably benign	Het
Ryr2	T	C	13: 11,670,584 (GRCm39)	R3471G	probably damaging	Het
Sbf2	T	C	7: 109,971,742 (GRCm39)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,316,403 (GRCm39)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm39)	N408S	probably benign	Het
Snn	T	C	16: 10,890,397 (GRCm39)	V72A	probably benign	Het
Sys1	T	A	2: 164,306,344 (GRCm39)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,412,931 (GRCm39)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,396,311 (GRCm39)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,213,681 (GRCm39)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm39)	I599T	probably damaging	Het
Tle3	C	T	9: 61,281,279 (GRCm39)		probably benign	Het
Tll1	A	C	8: 64,538,507 (GRCm39)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,621 (GRCm39)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,262,897 (GRCm39)		probably benign	Het
Trpm1	T	C	7: 63,858,054 (GRCm39)	L165P	probably damaging	Het
Trpm5	T	C	7: 142,633,956 (GRCm39)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,570,551 (GRCm39)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,121,705 (GRCm39)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,647,249 (GRCm39)	F543L	probably benign	Het
Yeats2	T	A	16: 19,971,645 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,745 (GRCm39)	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het
Znrf3	A	T	11: 5,237,420 (GRCm39)	C134S	probably benign	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
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'- AGTGTCTCAGAACAGCAGTGAC -3'
(R):5'- GAAGACAGCTACAGTGTACTTACG -3'

Sequencing Primer
(F):5'- TCCTAGGACTCACGCCC -3'
(R):5'- GTAAGTAAGTGTTCAGAA -3'

Posted On

2016-02-04