Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Kcnip2'

219592

Institutional Source

Beutler Lab

Gene Symbol

Kcnip2

Ensembl Gene

ENSMUSG00000025221

Gene Name

Kv channel-interacting protein 2

Synonyms

KChIP2

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

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

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45780785-45804948 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45782122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 169 (D169G)

Ref Sequence

ENSEMBL: ENSMUSP00000124346 (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: D249G

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

SMART Domains

Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221
AA Change: D249G

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: D249G

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

SMART Domains

Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221
AA Change: D249G

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: D222G

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

SMART Domains

Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221
AA Change: D222G

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 null
Transcript: ENSMUST00000159245
AA Change: D169G

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

SMART Domains

Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221
AA Change: D169G

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

Predicted Effect

probably null
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: ENSMUST00000162528
AA Change: D267G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221
AA Change: D267G

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 null
Transcript: ENSMUST00000161886
AA Change: D217G

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221
AA Change: D217G

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: 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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,609 (GRCm39)		probably benign	Het
Apoh	G	A	11: 108,298,288 (GRCm39)	R196Q	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
B4galnt4	T	C	7: 140,644,761 (GRCm39)	F194L	probably benign	Het
BC034090	A	T	1: 155,100,972 (GRCm39)	L431M	possibly damaging	Het
Bdh2	G	T	3: 134,994,040 (GRCm39)	A31S	probably damaging	Het
Brd10	C	T	19: 29,694,075 (GRCm39)	S1873N	possibly damaging	Het
Cacna1s	T	C	1: 136,046,833 (GRCm39)	S1821P	probably benign	Het
Caskin1	A	T	17: 24,725,824 (GRCm39)	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdk15	A	T	1: 59,370,110 (GRCm39)	H384L	probably damaging	Het
Col24a1	T	C	3: 145,020,691 (GRCm39)	I354T	probably benign	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Ctnna2	T	C	6: 77,735,483 (GRCm39)	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,948,162 (GRCm39)	W172R	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,734,890 (GRCm39)	A493T	probably benign	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx4	T	A	13: 112,757,276 (GRCm39)	H348L	probably damaging	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dok7	A	G	5: 35,234,610 (GRCm39)		probably null	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,637,090 (GRCm39)	I988M	probably damaging	Het
Elfn1	G	C	5: 139,958,604 (GRCm39)	R536P	probably damaging	Het
Eml6	A	G	11: 29,783,075 (GRCm39)	V602A	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Evi5	A	T	5: 107,896,230 (GRCm39)	F738I	probably benign	Het
Eya2	T	C	2: 165,558,039 (GRCm39)	S212P	probably benign	Het
Fam83a	T	C	15: 57,849,498 (GRCm39)	L14P	probably damaging	Het
Fanca	A	T	8: 124,014,803 (GRCm39)	M735K	probably benign	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fibcd1	G	A	2: 31,706,673 (GRCm39)	T386I	probably damaging	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Fscb	T	C	12: 64,520,008 (GRCm39)	E486G	unknown	Het
Galnt17	A	G	5: 131,179,782 (GRCm39)	S122P	probably benign	Het
Ghitm	A	G	14: 36,853,586 (GRCm39)	F85L	probably benign	Het
Ghrh	C	A	2: 157,175,386 (GRCm39)	V32L	probably benign	Het
Gli2	C	T	1: 118,765,430 (GRCm39)	R907H	probably benign	Het
Gm28042	A	G	2: 119,872,096 (GRCm39)	*1015W	probably null	Het
Gpr179	T	C	11: 97,228,784 (GRCm39)	T1124A	probably benign	Het
Grid2	C	A	6: 63,885,902 (GRCm39)	C99*	probably null	Het
Grin1	A	T	2: 25,187,927 (GRCm39)	M523K	probably benign	Het
Gucy2g	T	C	19: 55,211,328 (GRCm39)	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,221,485 (GRCm39)	T339P	probably benign	Het
Haus6	A	T	4: 86,522,483 (GRCm39)	L116H	probably damaging	Het
Hey1	T	C	3: 8,731,879 (GRCm39)	T18A	probably benign	Het
Hipk3	T	C	2: 104,264,186 (GRCm39)	N792D	probably damaging	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Il21r	A	G	7: 125,228,144 (GRCm39)	Q205R	probably damaging	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lrba	A	G	3: 86,515,696 (GRCm39)	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,866,972 (GRCm39)	V679A	probably benign	Het
Lyst	G	A	13: 13,904,929 (GRCm39)	R3202H	probably damaging	Het
Micall2	A	G	5: 139,721,885 (GRCm39)	C11R	probably damaging	Het
Morc2b	T	G	17: 33,356,065 (GRCm39)	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,639,111 (GRCm39)	E81G	probably damaging	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,326,914 (GRCm39)	D158E	probably benign	Het
Nckap5l	T	A	15: 99,320,699 (GRCm39)	T1285S	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,627,878 (GRCm39)	L453P	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2n1c	A	G	17: 38,519,355 (GRCm39)	Y73C	probably damaging	Het
Or4c125	T	A	2: 89,170,640 (GRCm39)	N2I	probably damaging	Het
Or52k2	A	T	7: 102,253,777 (GRCm39)	D72V	probably damaging	Het
Or7a40	T	A	16: 16,491,447 (GRCm39)	M133L	probably benign	Het
Patl1	T	C	19: 11,898,782 (GRCm39)	L159P	probably benign	Het
Paxip1	G	A	5: 27,949,134 (GRCm39)	T1045I	probably damaging	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pik3ca	A	G	3: 32,505,903 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plec	C	T	15: 76,073,372 (GRCm39)	R319H	probably damaging	Het
Pnkd	G	A	1: 74,391,008 (GRCm39)	G334D	probably damaging	Het
Prss50	A	G	9: 110,691,449 (GRCm39)	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,979,209 (GRCm39)	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,476,867 (GRCm39)	R4W	probably damaging	Het
Rgs19	A	T	2: 181,331,276 (GRCm39)	F119Y	probably damaging	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Serpine1	G	A	5: 137,096,601 (GRCm39)	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,308 (GRCm39)	T502S	possibly damaging	Het
Sox4	T	C	13: 29,136,631 (GRCm39)	D125G	probably damaging	Het
Spata31d1e	T	C	13: 59,890,599 (GRCm39)	D407G	probably damaging	Het
Stag3	C	T	5: 138,298,400 (GRCm39)	T731I	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964 (GRCm39)	V195F	probably benign	Het
Tnxb	A	G	17: 34,898,055 (GRCm39)	H901R	probably benign	Het
Trim39	A	T	17: 36,579,645 (GRCm39)	D103E	probably benign	Het
Ttn	A	T	2: 76,562,304 (GRCm39)	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,297,484 (GRCm39)	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,362,952 (GRCm39)	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,720,235 (GRCm39)	N419D	probably damaging	Het
Vps35	T	C	8: 86,005,623 (GRCm39)	D326G	possibly damaging	Het
Xdh	A	G	17: 74,199,746 (GRCm39)	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,478,007 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,282 (GRCm39)	Y104H	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
R1677:Kcnip2	UTSW	19	45,782,979 (GRCm39)	missense	probably damaging	1.00
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'- ACTCTCGCCACTTAGCTCAG -3'
(R):5'- TCCTGTTCTCTCATGACCAGGG -3'

Sequencing Primer
(F):5'- ACTTAGCTCAGGGATCTGGACTAC -3'
(R):5'- TCTCATGACCAGGGCAGATTTAC -3'

Posted On

2014-08-25