Mutagenetix > Incidental Mutation

Incidental Mutation 'R5077:Kcnip3'

401922

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

042666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127298418-127364014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127307797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 123 (S123P)

Ref Sequence

ENSEMBL: ENSMUSP00000028850 (fasta)

Gene Model

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

AlphaFold

Q9QXT8

Predicted Effect

probably damaging
Transcript: ENSMUST00000028850
AA Change: S123P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056
AA Change: S123P

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

possibly damaging
Transcript: ENSMUST00000088538
AA Change: S69P

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000085896
Gene: ENSMUSG00000079056
AA Change: S69P

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 damaging
Transcript: ENSMUST00000103215
AA Change: S95P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056
AA Change: S95P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137625

Meta Mutation Damage Score

0.2021

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

93% (51/55)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,080,200 (GRCm39)	V8A	possibly damaging	Het
Agbl4	A	T	4: 111,423,939 (GRCm39)	M322L	probably benign	Het
Ankrd55	A	G	13: 112,492,522 (GRCm39)	K231R	probably benign	Het
Asap1	A	C	15: 63,999,272 (GRCm39)	M534R	probably damaging	Het
B4galnt2	T	A	11: 95,767,140 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,437,475 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,594,224 (GRCm39)	I2311M	probably benign	Het
Capn2	G	T	1: 182,300,138 (GRCm39)	D617E	possibly damaging	Het
Catsper1	A	G	19: 5,385,998 (GRCm39)	D77G	probably damaging	Het
Cdc42bpa	A	T	1: 179,922,098 (GRCm39)		probably benign	Het
Cdca8	T	C	4: 124,820,470 (GRCm39)	K109E	probably damaging	Het
Dbx1	A	G	7: 49,283,242 (GRCm39)	S223P	probably damaging	Het
Dlg4	A	G	11: 69,917,852 (GRCm39)	N45S	possibly damaging	Het
Dlgap2	T	G	8: 14,872,691 (GRCm39)	V723G	probably benign	Het
Efl1	C	A	7: 82,307,295 (GRCm39)	Q64K	probably damaging	Het
Eml1	T	A	12: 108,472,871 (GRCm39)		probably benign	Het
Fbxw16	A	G	9: 109,270,117 (GRCm39)		probably null	Het
Gm10800	A	T	2: 98,497,379 (GRCm39)	L80M	probably benign	Het
H4c16	A	G	6: 136,781,113 (GRCm39)	Y89H	probably benign	Het
Insig2	A	T	1: 121,239,964 (GRCm39)	V112E	probably damaging	Het
Map3k9	T	C	12: 81,780,851 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,372,658 (GRCm39)	V119A	probably damaging	Het
Naa25	G	A	5: 121,562,639 (GRCm39)	V474M	probably benign	Het
Nckap1	A	T	2: 80,379,277 (GRCm39)	V219E	probably damaging	Het
Niban1	A	G	1: 151,590,274 (GRCm39)	I523V	probably benign	Het
Nrp1	G	T	8: 129,227,154 (GRCm39)		probably null	Het
Nsun4	A	T	4: 115,905,781 (GRCm39)	D58E	probably benign	Het
Obscn	G	T	11: 58,934,883 (GRCm39)	A5249D	probably damaging	Het
Or8k53	A	T	2: 86,177,683 (GRCm39)	H142Q	probably benign	Het
Osmr	A	T	15: 6,873,874 (GRCm39)	Y174*	probably null	Het
Pi4k2a	T	C	19: 42,108,275 (GRCm39)		probably null	Het
Pram1	C	T	17: 33,863,878 (GRCm39)	Q572*	probably null	Het
Prdm5	C	A	6: 65,756,158 (GRCm39)	T25K	probably damaging	Het
Psen1	T	C	12: 83,771,439 (GRCm39)	Y240H	probably damaging	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rbck1	A	C	2: 152,160,371 (GRCm39)	M436R	probably benign	Het
Resf1	T	G	6: 149,227,528 (GRCm39)	S191R	probably benign	Het
Rmnd1	T	C	10: 4,377,488 (GRCm39)	N64D	possibly damaging	Het
Rsph4a	A	G	10: 33,784,275 (GRCm39)	D299G	probably damaging	Het
Sema4c	T	C	1: 36,590,812 (GRCm39)	S480G	probably benign	Het
Srp68	T	C	11: 116,136,638 (GRCm39)	D552G	probably damaging	Het
Syde2	G	T	3: 145,707,764 (GRCm39)	A568S	probably damaging	Het
Szrd1	G	T	4: 140,867,092 (GRCm39)		probably null	Het
Szt2	A	T	4: 118,226,813 (GRCm39)		probably null	Het
Tbc1d31	A	G	15: 57,818,797 (GRCm39)	E800G	probably benign	Het
Tmprss11d	C	A	5: 86,457,122 (GRCm39)		probably null	Het
Usp37	A	G	1: 74,480,720 (GRCm39)	V895A	probably damaging	Het
Vmn1r19	T	C	6: 57,382,026 (GRCm39)	I193T	probably benign	Het
Vmn2r102	T	C	17: 19,897,834 (GRCm39)	V283A	probably benign	Het
Vps13d	C	T	4: 144,814,811 (GRCm39)	G3180D	probably damaging	Het
Xirp2	A	C	2: 67,344,821 (GRCm39)	D2354A	probably benign	Het
Zc3h14	T	A	12: 98,723,465 (GRCm39)		probably null	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
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
R7813:Kcnip3	UTSW	2	127,323,703 (GRCm39)	splice site	probably null
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'- TCCGACAGAAGAGCAGAGTGTC -3'
(R):5'- ACACAAGCAGAGTCCCTGTG -3'

Sequencing Primer
(F):5'- AAGAGCAGAGTGTCCTTCAC -3'
(R):5'- AGAGTCCCTGTGCCCTTTC -3'

Posted On

2016-07-22