Mutagenetix > Incidental Mutation

Incidental Mutation 'R7813:Kcnip3'

628605

Institutional Source

Beutler Lab

Gene Symbol

Kcnip3

Ensembl Gene

ENSMUSG00000079056

Gene Name

Kv channel interacting protein 3, calsenilin

Synonyms

Csen, DREAM, 4933407H12Rik, R74849, KChIP3

MMRRC Submission

045868-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7813 (G1)

Quality Score

96.0077

Status

Validated

Chromosome

Chromosomal Location

127298418-127364014 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 127323703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028850] [ENSMUST00000088538] [ENSMUST00000103215]

AlphaFold

Q9QXT8

Predicted Effect

probably null
Transcript: ENSMUST00000028850

SMART Domains

Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056

Domain	Start	End	E-Value	Type
EFh	158	186	1.74e-1	SMART
EFh	194	222	3.82e-7	SMART
EFh	242	270	3.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088538

SMART Domains

Protein: ENSMUSP00000085896
Gene: ENSMUSG00000079056

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	31	44	N/A	INTRINSIC
EFh	104	132	1.74e-1	SMART
EFh	140	168	3.82e-7	SMART
EFh	188	216	3.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103215

SMART Domains

Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056

Domain	Start	End	E-Value	Type
low complexity region	60	70	N/A	INTRINSIC
EFh	130	158	1.74e-1	SMART
EFh	166	194	3.82e-7	SMART
EFh	214	242	3.79e-2	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (60/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal spatial learning, hyperactivity, hypophagia, increased sensitivity to shock, and enhanced long term potentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	G	A	10: 29,100,896 (GRCm39)	R423K	probably benign	Het
Acot7	T	C	4: 152,307,575 (GRCm39)	S170P	probably damaging	Het
Arhgap40	A	G	2: 158,380,620 (GRCm39)	Q341R	probably benign	Het
Arhgef28	T	C	13: 98,082,189 (GRCm39)	E1206G	possibly damaging	Het
Arpp21	T	A	9: 112,008,133 (GRCm39)	K122N	probably damaging	Het
Arsi	T	C	18: 61,049,726 (GRCm39)	L203P	possibly damaging	Het
C1rb	A	T	6: 124,557,488 (GRCm39)	I542F	probably benign	Het
Cadm3	C	A	1: 173,171,956 (GRCm39)	V206L	probably benign	Het
Card11	T	C	5: 140,885,419 (GRCm39)	D380G	probably damaging	Het
Ccdc42	A	T	11: 68,488,534 (GRCm39)	Q164L	probably benign	Het
Ccnd1	A	G	7: 144,491,622 (GRCm39)		probably null	Het
Cep120	T	C	18: 53,871,578 (GRCm39)	D98G	probably damaging	Het
Chrd	A	G	16: 20,554,155 (GRCm39)	T336A	probably benign	Het
Clca3a2	C	A	3: 144,790,726 (GRCm39)	A449S	probably benign	Het
Dnah7a	A	G	1: 53,657,245 (GRCm39)	F844L	probably benign	Het
Fbxo11	T	A	17: 88,308,245 (GRCm39)	I480F		Het
Fcrl5	A	G	3: 87,350,930 (GRCm39)	T147A	probably benign	Het
Gm15130	T	A	2: 110,969,320 (GRCm39)	I133F		Het
Gpr155	C	T	2: 73,212,329 (GRCm39)	W98*	probably null	Het
Hspa4	A	G	11: 53,162,863 (GRCm39)	S408P	probably damaging	Het
Il12rb2	G	A	6: 67,333,635 (GRCm39)	R215C	possibly damaging	Het
Itga5	T	A	15: 103,265,741 (GRCm39)		probably null	Het
Krt12	A	G	11: 99,309,309 (GRCm39)		probably null	Het
Marchf3	A	T	18: 56,916,163 (GRCm39)	S177R	probably benign	Het
Minpp1	T	G	19: 32,468,803 (GRCm39)	F229V	probably damaging	Het
Muc2	G	A	7: 141,282,543 (GRCm39)		probably null	Het
Myh10	A	G	11: 68,676,735 (GRCm39)	T906A	probably benign	Het
Myh13	A	G	11: 67,218,056 (GRCm39)	D43G	probably benign	Het
Nacad	C	T	11: 6,549,071 (GRCm39)	D1327N	probably benign	Het
Nbeal1	A	T	1: 60,331,048 (GRCm39)	Y2219F	probably damaging	Het
Nckap5	A	G	1: 125,953,163 (GRCm39)	S1130P	probably benign	Het
Pfkfb3	T	C	2: 11,486,719 (GRCm39)	N415S	probably benign	Het
Plxdc2	A	G	2: 16,665,678 (GRCm39)	I293V	possibly damaging	Het
Prpf38a	A	T	4: 108,436,277 (GRCm39)	I12N	probably damaging	Het
Ptprt	C	T	2: 161,372,413 (GRCm39)	V1420M	probably damaging	Het
Qars1	A	G	9: 108,386,670 (GRCm39)	D161G	probably damaging	Het
Scaf8	T	A	17: 3,247,549 (GRCm39)	D957E	probably damaging	Het
Scn7a	T	C	2: 66,506,689 (GRCm39)	Y1400C	probably damaging	Het
Sis	T	C	3: 72,832,801 (GRCm39)	I999V	probably benign	Het
Sorcs2	A	T	5: 36,181,958 (GRCm39)	L1054H	probably damaging	Het
Sptbn1	C	T	11: 30,088,455 (GRCm39)	A906T	probably damaging	Het
Srd5a2	A	G	17: 74,331,541 (GRCm39)	F152S	probably benign	Het
Stkld1	T	A	2: 26,835,888 (GRCm39)	L241*	probably null	Het
Strip2	A	T	6: 29,923,912 (GRCm39)		probably null	Het
Tcaf1	A	C	6: 42,650,363 (GRCm39)	Y905*	probably null	Het
Tet2	T	C	3: 133,179,404 (GRCm39)	I1254V	probably benign	Het
Tiam2	A	T	17: 3,487,522 (GRCm39)	N681I	probably damaging	Het
Trappc6a	A	G	7: 19,248,124 (GRCm39)		probably null	Het
Trav12-2	A	T	14: 53,854,223 (GRCm39)	K66*	probably null	Het
Ttn	T	A	2: 76,597,841 (GRCm39)	I19691F	probably damaging	Het
Tubgcp5	A	T	7: 55,450,444 (GRCm39)	Q185L	possibly damaging	Het
Vmn1r44	A	T	6: 89,869,192 (GRCm39)		probably benign	Het
Vps13a	T	C	19: 16,628,820 (GRCm39)	D2717G	possibly damaging	Het
Vps13d	A	T	4: 144,904,633 (GRCm39)	Y133*	probably null	Het
Zer1	T	C	2: 30,000,385 (GRCm39)	D265G	probably damaging	Het
Zfp710	A	G	7: 79,730,859 (GRCm39)	D12G	possibly damaging	Het
Zfp819	T	C	7: 43,266,191 (GRCm39)	S225P	probably benign	Het

Other mutations in Kcnip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01490:Kcnip3	APN	2	127,352,799 (GRCm39)	missense	probably benign	0.44
R0277:Kcnip3	UTSW	2	127,301,899 (GRCm39)	splice site	probably benign
R0410:Kcnip3	UTSW	2	127,301,986 (GRCm39)	missense	probably damaging	1.00
R0601:Kcnip3	UTSW	2	127,300,317 (GRCm39)	splice site	probably benign
R1183:Kcnip3	UTSW	2	127,306,985 (GRCm39)	missense	probably damaging	1.00
R1868:Kcnip3	UTSW	2	127,301,263 (GRCm39)	missense	probably damaging	1.00
R2265:Kcnip3	UTSW	2	127,306,981 (GRCm39)	missense	probably benign	0.40
R2443:Kcnip3	UTSW	2	127,301,983 (GRCm39)	missense	probably damaging	1.00
R3797:Kcnip3	UTSW	2	127,323,934 (GRCm39)	missense	probably benign	0.01
R5077:Kcnip3	UTSW	2	127,307,797 (GRCm39)	missense	probably damaging	0.99
R6834:Kcnip3	UTSW	2	127,300,278 (GRCm39)	missense	probably damaging	1.00
R7084:Kcnip3	UTSW	2	127,352,856 (GRCm39)	missense	probably benign
R7234:Kcnip3	UTSW	2	127,363,256 (GRCm39)	missense	unknown
R8130:Kcnip3	UTSW	2	127,352,828 (GRCm39)	missense	possibly damaging	0.85
R8178:Kcnip3	UTSW	2	127,323,934 (GRCm39)	missense	probably benign	0.01
R9469:Kcnip3	UTSW	2	127,307,322 (GRCm39)	missense	probably benign	0.01
R9618:Kcnip3	UTSW	2	127,352,812 (GRCm39)	missense	probably benign	0.04
Z1177:Kcnip3	UTSW	2	127,352,801 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTAGGACAGAAATGTGGCTGC -3'
(R):5'- GTAGAAGGATAGCTGCCTCG -3'

Sequencing Primer
(F):5'- TACTGATCTTAGGGACAGGAGCTC -3'
(R):5'- TAGCTGCCTCGGCTAAGAC -3'

Posted On

2020-05-18