Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03200:Kcnip2'

412948

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kcnip2

Ensembl Gene

ENSMUSG00000025221

Gene Name

Kv channel-interacting protein 2

Synonyms

KChIP2

Accession Numbers

Essential gene?

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

Stock #

IGL03200

Quality Score

Status

Chromosome

Chromosomal Location

45780785-45804948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45782502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 190 (K190Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084215 (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: K217Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221
AA Change: K217Q

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: K217Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221
AA Change: K217Q

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: K190Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221
AA Change: K190Q

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

noncoding transcript
Transcript: ENSMUST00000111906

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159210
AA Change: K34Q

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124763
Gene: ENSMUSG00000025221
AA Change: K34Q

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: K137Q

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221
AA Change: K137Q

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

possibly damaging
Transcript: ENSMUST00000161886
AA Change: K185Q

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221
AA Change: K185Q

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: K235Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221
AA Change: K235Q

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: K149Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221
AA Change: K149Q

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

Coding Region Coverage

Validation Efficiency

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,928,989 (GRCm39)		probably benign	Het
Degs1	A	T	1: 182,107,256 (GRCm39)	M1K	probably null	Het
Eif3e	A	T	15: 43,115,657 (GRCm39)	W370R	probably damaging	Het
H2-M10.6	G	A	17: 37,124,908 (GRCm39)	G275E	probably damaging	Het
Itga8	C	T	2: 12,196,010 (GRCm39)	V647I	probably benign	Het
Mbd1	T	G	18: 74,409,502 (GRCm39)	S251A	probably benign	Het
Mcpt9	T	A	14: 56,264,390 (GRCm39)	H235L	probably benign	Het
Ndst1	A	T	18: 60,832,611 (GRCm39)	I573N	possibly damaging	Het
Ntan1	C	T	16: 13,652,591 (GRCm39)	P229L	probably damaging	Het
Rbl2	T	C	8: 91,823,395 (GRCm39)	I441T	probably benign	Het
Spmap2l	T	A	5: 77,208,711 (GRCm39)	V413D	possibly damaging	Het
Sulf1	C	T	1: 12,856,841 (GRCm39)	R31*	probably null	Het
Taok1	G	A	11: 77,466,478 (GRCm39)	Q124*	probably null	Het
Tmem140	A	G	6: 34,849,814 (GRCm39)	E110G	possibly damaging	Het
U2surp	G	A	9: 95,373,444 (GRCm39)	R242*	probably null	Het
Ywhag	G	A	5: 135,939,914 (GRCm39)	R227*	probably null	Het
Zfp456	C	T	13: 67,514,596 (GRCm39)	R370H	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
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
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

Posted On

2016-08-02