Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Kcnip2'

648904

Institutional Source

Beutler Lab

Gene Symbol

Kcnip2

Ensembl Gene

ENSMUSG00000025221

Gene Name

Kv channel-interacting protein 2

Synonyms

KChIP2

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45780785-45804948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45782729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 204 (I204N)

Ref Sequence

ENSEMBL: ENSMUSP00000125142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026247] [ENSMUST00000079431] [ENSMUST00000086993] [ENSMUST00000159245] [ENSMUST00000159446] [ENSMUST00000161886] [ENSMUST00000162528] [ENSMUST00000162661]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026247
AA Change: I186N

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

SMART Domains

Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221
AA Change: I186N

Domain	Start	End	E-Value	Type
EFh	126	154	1e-1	SMART
EFh	162	190	1.88e-6	SMART
EFh	210	238	4.6e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000079431
AA Change: I186N

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

SMART Domains

Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221
AA Change: I186N

Domain	Start	End	E-Value	Type
EFh	126	154	1e-1	SMART
EFh	162	190	1.88e-6	SMART
EFh	210	238	4.6e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000086993
AA Change: I159N

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

SMART Domains

Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221
AA Change: I159N

Domain	Start	End	E-Value	Type
EFh	99	127	1e-1	SMART
EFh	135	163	1.88e-6	SMART
EFh	183	211	4.6e-1	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124763
Gene: ENSMUSG00000025221
AA Change: I3N

Domain	Start	End	E-Value	Type
Pfam:EF-hand_1	28	56	3.7e-8	PFAM
Pfam:EF-hand_5	29	53	3.5e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159245
AA Change: I106N

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

SMART Domains

Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221
AA Change: I106N

Domain	Start	End	E-Value	Type
EFh	82	110	1.88e-6	SMART
EFh	130	158	4.6e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159446

SMART Domains

Protein: ENSMUSP00000125499
Gene: ENSMUSG00000025221

Domain	Start	End	E-Value	Type
low complexity region	51	62	N/A	INTRINSIC
PDB:1S1E\|A	63	125	2e-32	PDB
SCOP:d1rec__	76	125	7e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000161886
AA Change: I154N

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

SMART Domains

Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221
AA Change: I154N

Domain	Start	End	E-Value	Type
EFh	94	122	1e-1	SMART
EFh	130	158	1.88e-6	SMART
EFh	178	206	4.6e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162528
AA Change: I204N

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

SMART Domains

Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221
AA Change: I204N

Domain	Start	End	E-Value	Type
low complexity region	64	75	N/A	INTRINSIC
EFh	144	172	1e-1	SMART
EFh	180	208	1.88e-6	SMART
EFh	228	256	4.6e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000162661
AA Change: I118N

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

SMART Domains

Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221
AA Change: I118N

Domain	Start	End	E-Value	Type
EFh	94	122	3.4e-4	SMART
EFh	142	170	1.63e-1	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: This gene encodes a member of the voltage-gated potassium channel-interacting protein (KCNIP) family. KCNIP family members are small calcium binding proteins that commonly exhibit unique variation at their N-termini, and which modulate A-type potassium channels. This gene is predominantly expressed in the adult heart, and to a lesser extent in the brain. Disruption of this gene is associated with susceptibility to cardiac arrhythmias and lack of transient outward potassium current in ventricular myocytes, and downregulated expression is associated with cardiac hypertrophy. The encoded protein has also been implicated as a repressor of immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are susceptible to induced cardiac arrhythmias but are otherwise normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Coch	T	A	12: 51,643,366 (GRCm39)		probably null	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,389,666 (GRCm39)	Y233F	probably benign	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,132,240 (GRCm39)	T193A	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Sqle	C	A	15: 59,196,315 (GRCm39)	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	Het
Zw10	T	A	9: 48,982,933 (GRCm39)	D521E	probably benign	Het

Other mutations in Kcnip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01833:Kcnip2	APN	19	45,782,746 (GRCm39)	splice site	probably null
IGL01927:Kcnip2	APN	19	45,784,044 (GRCm39)	missense	probably damaging	0.98
IGL02597:Kcnip2	APN	19	45,784,712 (GRCm39)	intron	probably benign
IGL03069:Kcnip2	APN	19	45,784,710 (GRCm39)	intron	probably benign
IGL03200:Kcnip2	APN	19	45,782,502 (GRCm39)	missense	probably damaging	1.00
R0309:Kcnip2	UTSW	19	45,782,514 (GRCm39)	splice site	probably benign
R1205:Kcnip2	UTSW	19	45,783,422 (GRCm39)	missense	probably null	1.00
R1677:Kcnip2	UTSW	19	45,782,979 (GRCm39)	missense	probably damaging	1.00
R1969:Kcnip2	UTSW	19	45,782,122 (GRCm39)	missense	probably null	0.99
R4175:Kcnip2	UTSW	19	45,800,654 (GRCm39)	missense	probably benign	0.06
R4393:Kcnip2	UTSW	19	45,800,669 (GRCm39)	missense	probably benign	0.38
R5335:Kcnip2	UTSW	19	45,782,685 (GRCm39)	missense	probably benign	0.03
R7782:Kcnip2	UTSW	19	45,785,524 (GRCm39)	critical splice donor site	probably null
R8197:Kcnip2	UTSW	19	45,782,730 (GRCm39)	missense	possibly damaging	0.94
R8537:Kcnip2	UTSW	19	45,804,169 (GRCm39)	critical splice donor site	probably null
R8775:Kcnip2	UTSW	19	45,782,149 (GRCm39)	missense	possibly damaging	0.79
R8775-TAIL:Kcnip2	UTSW	19	45,782,149 (GRCm39)	missense	possibly damaging	0.79
R8888:Kcnip2	UTSW	19	45,785,100 (GRCm39)	intron	probably benign
R8895:Kcnip2	UTSW	19	45,785,100 (GRCm39)	intron	probably benign
R9009:Kcnip2	UTSW	19	45,800,634 (GRCm39)	intron	probably benign
R9031:Kcnip2	UTSW	19	45,783,210 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTAGGTAAGTGCCTTTCGG -3'
(R):5'- AGACTGAACTGGGCTTTCAAC -3'

Sequencing Primer
(F):5'- GGGCCCCGGTGTCCTTC -3'
(R):5'- CTCAACAAGGATGGCTGTATCACG -3'

Posted On

2020-09-15