Mutagenetix > Incidental Mutation

Incidental Mutation 'R1677:Kcnip2'

188232

Institutional Source

Beutler Lab

Gene Symbol

Kcnip2

Ensembl Gene

ENSMUSG00000025221

Gene Name

Kv channel-interacting protein 2

Synonyms

KChIP2

MMRRC Submission

039713-MU

Accession Numbers

Essential gene?

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

Stock #

R1677 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45780785-45804948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45782979 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 134 (D134E)

Ref Sequence

ENSEMBL: ENSMUSP00000084215 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000026247
AA Change: D161E

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

SMART Domains

Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221
AA Change: D161E

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: D161E

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

SMART Domains

Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221
AA Change: D161E

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: D134E

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

SMART Domains

Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221
AA Change: D134E

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

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
AA Change: D81E

PolyPhen 2 Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221
AA Change: D81E

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: ENSMUST00000162528
AA Change: D179E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221
AA Change: D179E

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: ENSMUST00000161886
AA Change: D129E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221
AA Change: D129E

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 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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.6%

Validation Efficiency

100% (95/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	T	11: 23,467,357 (GRCm39)	M92K	probably benign	Het
4931406C07Rik	T	C	9: 15,212,660 (GRCm39)		probably null	Het
A430005L14Rik	G	A	4: 154,045,357 (GRCm39)	V129M	probably damaging	Het
Actg2	T	C	6: 83,499,801 (GRCm39)	T150A	possibly damaging	Het
Actn1	A	T	12: 80,306,806 (GRCm39)	D20E	probably benign	Het
Alcam	C	T	16: 52,091,136 (GRCm39)	E461K	probably damaging	Het
Anapc1	G	A	2: 128,518,128 (GRCm39)	P242L	probably benign	Het
Ankrd49	A	T	9: 14,692,674 (GRCm39)	D163E	probably benign	Het
Atp8b5	G	A	4: 43,372,903 (GRCm39)	R1149Q	possibly damaging	Het
Cacnb3	G	T	15: 98,540,455 (GRCm39)	V328F	probably damaging	Het
Camk4	T	C	18: 33,309,275 (GRCm39)	I226T	probably damaging	Het
Ccdc148	T	C	2: 58,892,176 (GRCm39)	D172G	probably damaging	Het
Cdh12	A	G	15: 21,520,491 (GRCm39)	I319V	probably damaging	Het
Cenpc1	T	C	5: 86,209,857 (GRCm39)		probably benign	Het
Cfap69	A	C	5: 5,632,457 (GRCm39)	N15K	probably damaging	Het
Ckap2l	A	C	2: 129,127,087 (GRCm39)	S364A	possibly damaging	Het
Clic6	G	A	16: 92,324,972 (GRCm39)	G36R	probably damaging	Het
Col6a3	T	C	1: 90,749,583 (GRCm39)	Y417C	probably benign	Het
Cstf3	T	A	2: 104,494,623 (GRCm39)		probably benign	Het
Cyp4f39	G	A	17: 32,711,304 (GRCm39)	A484T	probably benign	Het
Dnah3	T	C	7: 119,527,963 (GRCm39)	N3829D	probably damaging	Het
Dntt	C	A	19: 41,017,923 (GRCm39)	P16T	probably benign	Het
Dym	T	A	18: 75,258,583 (GRCm39)	I447N	probably damaging	Het
Elmo1	T	C	13: 20,773,841 (GRCm39)	V617A	probably benign	Het
Elovl7	G	A	13: 108,419,160 (GRCm39)	G264D	probably damaging	Het
Epha7	T	A	4: 28,947,571 (GRCm39)	Y610*	probably null	Het
Fn1	T	C	1: 71,636,814 (GRCm39)	I178V	probably benign	Het
Fndc9	T	C	11: 46,129,152 (GRCm39)	Y224H	probably benign	Het
Gad1	T	C	2: 70,404,521 (GRCm39)	V137A	probably damaging	Het
Gapvd1	A	G	2: 34,590,773 (GRCm39)		probably null	Het
Gbp11	C	T	5: 105,475,277 (GRCm39)	C357Y	probably damaging	Het
Gcc1	G	A	6: 28,419,163 (GRCm39)	A390V	probably benign	Het
Gm6811	A	G	17: 21,314,185 (GRCm39)		noncoding transcript	Het
Htt	A	T	5: 34,985,918 (GRCm39)	D1063V	probably damaging	Het
Igfn1	C	T	1: 135,898,839 (GRCm39)	A576T	probably damaging	Het
Il12rb2	T	C	6: 67,280,485 (GRCm39)	Y240C	probably damaging	Het
Itga3	T	C	11: 94,946,585 (GRCm39)	D747G	probably damaging	Het
Kif2b	C	A	11: 91,466,798 (GRCm39)	R495I	probably damaging	Het
Lef1	T	C	3: 130,993,938 (GRCm39)		probably benign	Het
Lias	C	T	5: 65,548,981 (GRCm39)	R4C	probably damaging	Het
Lpcat2	T	C	8: 93,591,560 (GRCm39)	V68A	probably benign	Het
Lrrc37	A	T	11: 103,505,768 (GRCm39)	S2067T	probably benign	Het
Lrrc8e	A	T	8: 4,284,190 (GRCm39)	K138N	probably damaging	Het
Map4k5	G	A	12: 69,852,082 (GRCm39)	H767Y	probably benign	Het
Mga	C	A	2: 119,791,333 (GRCm39)	T2406K	possibly damaging	Het
Mtx1	A	T	3: 89,116,648 (GRCm39)	S418T	probably benign	Het
Myh7	C	T	14: 55,224,973 (GRCm39)	M531I	probably benign	Het
Myorg	C	T	4: 41,497,947 (GRCm39)	R561H	probably benign	Het
Ncaph2	T	A	15: 89,255,427 (GRCm39)	M555K	probably damaging	Het
Nckap1	C	T	2: 80,348,286 (GRCm39)	S889N	probably benign	Het
Ncoa6	T	C	2: 155,244,584 (GRCm39)		probably benign	Het
Nrp2	A	G	1: 62,822,479 (GRCm39)	S691G	probably benign	Het
Odad2	T	C	18: 7,222,554 (GRCm39)	T572A	probably benign	Het
Odf2l	A	T	3: 144,845,543 (GRCm39)		probably null	Het
Or5aq6	T	A	2: 86,923,081 (GRCm39)	H220L	probably benign	Het
Pcdh20	A	G	14: 88,705,410 (GRCm39)	V630A	probably damaging	Het
Pebp4	T	C	14: 70,285,923 (GRCm39)		probably null	Het
Ppfia3	T	A	7: 45,006,090 (GRCm39)	M301L	probably benign	Het
Ppp1r21	C	A	17: 88,858,097 (GRCm39)	Q203K	probably benign	Het
Prr23a1	T	C	9: 98,725,406 (GRCm39)	V256A	probably benign	Het
Rbfox1	A	G	16: 7,110,091 (GRCm39)	R150G	possibly damaging	Het
Rnps1-ps	A	T	6: 7,982,943 (GRCm39)		noncoding transcript	Het
Robo3	T	C	9: 37,329,005 (GRCm39)	R1238G	possibly damaging	Het
Rp9	T	G	9: 22,365,097 (GRCm39)	Q35P	probably damaging	Het
Rsrc1	C	A	3: 67,262,808 (GRCm39)	A254E	probably damaging	Het
Shtn1	T	A	19: 58,998,222 (GRCm39)	K390N	probably damaging	Het
Sidt2	C	T	9: 45,864,517 (GRCm39)	V71I	probably benign	Het
Sirt7	A	G	11: 120,515,365 (GRCm39)	V97A	possibly damaging	Het
Slc14a2	A	G	18: 78,206,419 (GRCm39)	S466P	probably benign	Het
Slc2a10	T	A	2: 165,357,361 (GRCm39)	D340E	probably benign	Het
Slc36a2	A	C	11: 55,075,735 (GRCm39)	N17K	probably benign	Het
Slc4a10	A	C	2: 62,155,071 (GRCm39)	N1086T	probably benign	Het
Sptb	T	C	12: 76,676,423 (GRCm39)	D177G	probably damaging	Het
Srpk2	A	T	5: 23,730,748 (GRCm39)		probably null	Het
Sucla2	T	G	14: 73,830,121 (GRCm39)	V386G	probably damaging	Het
Susd1	G	T	4: 59,424,089 (GRCm39)	N45K	possibly damaging	Het
Tbxas1	T	C	6: 38,994,822 (GRCm39)		probably benign	Het
Topors	C	T	4: 40,261,776 (GRCm39)	E503K	probably damaging	Het
Trpv5	T	C	6: 41,634,731 (GRCm39)	R533G	probably benign	Het
Tshr	A	G	12: 91,504,115 (GRCm39)	H351R	possibly damaging	Het
Ube2f	G	A	1: 91,203,037 (GRCm39)	V94M	probably damaging	Het
Ugdh	A	G	5: 65,580,521 (GRCm39)	S216P	probably damaging	Het
Unc45b	T	A	11: 82,802,531 (GRCm39)		probably null	Het
Vmn1r226	A	G	17: 20,908,335 (GRCm39)	E189G	probably damaging	Het
Xrcc6	T	G	15: 81,913,900 (GRCm39)	D75E	probably benign	Het
Ypel1	A	G	16: 16,921,474 (GRCm39)	L70P	probably damaging	Het
Zcwpw1	A	T	5: 137,795,022 (GRCm39)	R73W	probably damaging	Het
Zfp219	T	C	14: 52,246,512 (GRCm39)	E160G	probably damaging	Het
Zfp804b	G	T	5: 7,229,533 (GRCm39)		probably benign	Het
Zscan22	C	A	7: 12,640,730 (GRCm39)	P325T	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CCAAATTTAGGAGCCAAGGGCCAAG -3'
(R):5'- TCCCAGCGGAATTGTCAACGAG -3'

Sequencing Primer
(F):5'- AGGGCCAAGGACAGACCTC -3'
(R):5'- AACCATGATGGCTCTGTCAG -3'

Posted On

2014-05-09