Mutagenetix > Incidental Mutation

Incidental Mutation 'R7782:Kcnip2'

599347

Institutional Source

Beutler Lab

Gene Symbol

Kcnip2

Ensembl Gene

ENSMUSG00000025221

Gene Name

Kv channel-interacting protein 2

Synonyms

KChIP2

MMRRC Submission

045838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R7782 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45780785-45804948 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 45785524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000026247 (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 null
Transcript: ENSMUST00000026247

SMART Domains

Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221

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 null
Transcript: ENSMUST00000079431

SMART Domains

Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221

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 benign
Transcript: ENSMUST00000086993

SMART Domains

Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221

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

probably benign
Transcript: ENSMUST00000159210

SMART Domains

Protein: ENSMUSP00000124763
Gene: ENSMUSG00000025221

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 benign
Transcript: ENSMUST00000159245

SMART Domains

Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221

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 benign
Transcript: ENSMUST00000161886

SMART Domains

Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221

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 null
Transcript: ENSMUST00000162528

SMART Domains

Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221

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 benign
Transcript: ENSMUST00000162661

SMART Domains

Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221

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: 99.8%
20x: 99.4%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	GTGTGTGTATGTGTGT	GTGTGTGT	11: 43,478,239 (GRCm39)		probably null	Het
Adamts16	A	G	13: 70,984,265 (GRCm39)	S133P	probably damaging	Het
Adamts17	T	C	7: 66,774,802 (GRCm39)	W1001R	probably damaging	Het
Aox4	T	A	1: 58,270,251 (GRCm39)		probably null	Het
B4galnt4	C	T	7: 140,644,988 (GRCm39)	P221S	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
BC034090	T	C	1: 155,108,410 (GRCm39)		probably benign	Het
Best2	T	A	8: 85,736,143 (GRCm39)	D312V	probably damaging	Het
Bod1l	A	T	5: 41,975,286 (GRCm39)	D2009E	probably benign	Het
Ccdc158	A	C	5: 92,793,373 (GRCm39)	S672A	probably benign	Het
Ccdc43	A	T	11: 102,588,443 (GRCm39)	L31Q	probably damaging	Het
Cdcp3	G	A	7: 130,904,466 (GRCm39)		probably null	Het
Chaf1a	T	G	17: 56,369,291 (GRCm39)	H507Q	probably benign	Het
Clptm1l	A	G	13: 73,752,439 (GRCm39)	Y28C	probably damaging	Het
Cp	G	A	3: 20,029,223 (GRCm39)		probably null	Het
Crocc	C	T	4: 140,752,597 (GRCm39)	A1432T	probably benign	Het
Crybg2	A	G	4: 133,801,137 (GRCm39)	T457A	probably benign	Het
Csnk2a1-ps3	C	T	1: 156,352,552 (GRCm39)	T251I	probably damaging	Het
Dennd4a	A	G	9: 64,814,202 (GRCm39)	D1473G	probably damaging	Het
Diaph3	A	G	14: 87,274,940 (GRCm39)	F172S	probably benign	Het
Dnajc5b	A	G	3: 19,629,006 (GRCm39)	N100S	probably benign	Het
Dusp13b	G	A	14: 21,791,404 (GRCm39)	T16I	possibly damaging	Het
Epb42	T	G	2: 120,864,916 (GRCm39)	K58N	probably benign	Het
Fat1	A	G	8: 45,403,948 (GRCm39)	Y233C	probably damaging	Het
Fcgbp	T	A	7: 27,784,460 (GRCm39)	Y173*	probably null	Het
Fign	T	A	2: 63,809,506 (GRCm39)	D588V	probably damaging	Het
Fignl2	C	T	15: 100,951,188 (GRCm39)	V365M	unknown	Het
Fnip2	A	C	3: 79,415,430 (GRCm39)	Y203D	probably benign	Het
Ftsj3	CCTTCTTCTTCTTCTTCT	CCTTCTTCTTCTTCT	11: 106,143,377 (GRCm39)		probably benign	Het
Gfral	C	A	9: 76,100,572 (GRCm39)	V289L	probably benign	Het
H2bc21	T	A	3: 96,128,487 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,103,370 (GRCm39)	T1161K	probably damaging	Het
Hectd4	A	T	5: 121,443,784 (GRCm39)	I1335F	possibly damaging	Het
Htt	T	A	5: 35,040,336 (GRCm39)	V2166D	probably benign	Het
Ipo5	G	C	14: 121,170,537 (GRCm39)	K436N	possibly damaging	Het
Iqca1l	A	G	5: 24,749,224 (GRCm39)	L758P	probably damaging	Het
Itga6	A	G	2: 71,671,879 (GRCm39)	E794G	probably damaging	Het
Itga9	G	A	9: 118,672,712 (GRCm39)	C148Y		Het
Kcnk6	T	C	7: 28,925,269 (GRCm39)	T116A	possibly damaging	Het
Kctd21	A	G	7: 96,997,297 (GRCm39)	I257V	probably benign	Het
Kif19a	G	A	11: 114,672,748 (GRCm39)	R299Q	probably damaging	Het
Kifc2	G	A	15: 76,548,328 (GRCm39)	G391R	probably benign	Het
Klrg2	A	G	6: 38,604,562 (GRCm39)	V381A	possibly damaging	Het
Mob1b	A	G	5: 88,897,542 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,584,106 (GRCm39)	Y221H	probably damaging	Het
Or6c69	T	G	10: 129,747,392 (GRCm39)	S252R	probably damaging	Het
Or6c75	T	C	10: 129,337,020 (GRCm39)	V81A	probably benign	Het
Or7c70	T	C	10: 78,683,447 (GRCm39)	I101V	probably benign	Het
Oxsm	C	A	14: 16,240,925 (GRCm38)	A375S	possibly damaging	Het
Pcdha3	T	C	18: 37,081,193 (GRCm39)	V645A	probably damaging	Het
Pcdhb15	T	A	18: 37,607,788 (GRCm39)	V340E	possibly damaging	Het
Pced1a	G	A	2: 130,264,435 (GRCm39)	P132S	probably damaging	Het
Pla2r1	C	T	2: 60,334,531 (GRCm39)	V414M	probably benign	Het
Plekhg4	A	C	8: 106,104,399 (GRCm39)	I493L	probably benign	Het
Plekhj1	T	A	10: 80,634,179 (GRCm39)		probably benign	Het
Pmfbp1	G	T	8: 110,254,412 (GRCm39)	K482N	probably damaging	Het
Ppil3	T	C	1: 58,473,574 (GRCm39)	N92S	probably benign	Het
Ppt2	A	G	17: 34,844,686 (GRCm39)	S156P	probably benign	Het
Prss41	A	T	17: 24,056,087 (GRCm39)	D255E	probably benign	Het
Psg25	T	A	7: 18,255,227 (GRCm39)	M430L	probably benign	Het
Rffl	A	T	11: 82,703,595 (GRCm39)	C109*	probably null	Het
Rock2	A	G	12: 17,021,111 (GRCm39)	E991G	probably benign	Het
Rpap2	A	G	5: 107,768,058 (GRCm39)	I299V	probably benign	Het
Rras	T	C	7: 44,670,529 (GRCm39)	S158P	probably benign	Het
Serpinb10	G	A	1: 107,463,196 (GRCm39)		probably benign	Het
Smyd3	A	T	1: 178,799,859 (GRCm39)	I360N	possibly damaging	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Tasor	A	G	14: 27,193,901 (GRCm39)	T1034A	probably benign	Het
Tbc1d31	C	A	15: 57,821,764 (GRCm39)	T813K	possibly damaging	Het
Trav7n-4	A	G	14: 53,329,103 (GRCm39)	M38V	probably benign	Het
Tulp3	A	C	6: 128,301,943 (GRCm39)	N359K	possibly damaging	Het
Twf1	T	C	15: 94,480,654 (GRCm39)	K196E	probably benign	Het
Usp24	A	T	4: 106,173,771 (GRCm39)	N35Y	probably damaging	Het
Usp46	T	A	5: 74,162,772 (GRCm39)	E342D	probably benign	Het
Vps50	T	A	6: 3,532,202 (GRCm39)		probably null	Het
Vps8	T	A	16: 21,330,308 (GRCm39)	I727N	possibly damaging	Het
Wdr90	C	T	17: 26,065,300 (GRCm39)	R1652Q	probably damaging	Het
Zfp11	A	T	5: 129,734,027 (GRCm39)	V478E	possibly damaging	Het
Zfp493	A	G	13: 67,935,123 (GRCm39)	K359E	probably benign	Het
Zfp536	T	C	7: 37,268,126 (GRCm39)	Y430C	probably damaging	Het
Zfpm1	A	G	8: 123,063,689 (GRCm39)	D916G	unknown	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
R7938:Kcnip2	UTSW	19	45,782,729 (GRCm39)	missense	probably damaging	1.00
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'- TTTAGGCCTAACACTCTAGCCC -3'
(R):5'- TCAGCCAGTGTTGACTTGTG -3'

Sequencing Primer
(F):5'- TACACCCTTCACATTCGG -3'
(R):5'- ATTGGTGGGGGAGCAGCC -3'

Posted On

2019-11-26