Mutagenetix > Incidental Mutation

Incidental Mutation 'R2871:Kcnk10'

253770

Institutional Source

Beutler Lab

Gene Symbol

Kcnk10

Ensembl Gene

ENSMUSG00000033854

Gene Name

potassium channel, subfamily K, member 10

Synonyms

Trek2, 3010005K24Rik, 1700024D23Rik

MMRRC Submission

040459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

98395691-98544472 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98401072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 520 (R520S)

Ref Sequence

ENSEMBL: ENSMUSP00000105740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110113] [ENSMUST00000221240]

AlphaFold

Q8BUW1

Predicted Effect

probably benign
Transcript: ENSMUST00000110113
AA Change: R520S

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105740
Gene: ENSMUSG00000033854
AA Change: R520S

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Ion_trans	55	207	9.3e-8	PFAM
Pfam:Ion_trans_2	126	204	3.3e-20	PFAM
Pfam:Ion_trans_2	223	321	8.5e-21	PFAM
low complexity region	449	462	N/A	INTRINSIC
low complexity region	479	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000221240
AA Change: R534S

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 99.5%
3x: 98.2%
10x: 92.4%
20x: 72.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of potassium channel proteins containing two pore-forming P domains. This channel is an open rectifier which primarily passes outward current under physiological K+ concentrations, and is stimulated strongly by arachidonic acid and to a lesser degree by membrane stretching, intracellular acidification, and general anaesthetics. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Sep 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit normal glucose hyperpolarization of hypothalamic neurons in response to glucose. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,846,002 (GRCm39)	C811R	possibly damaging	Het
Akap8l	G	A	17: 32,557,416 (GRCm39)	T65I	possibly damaging	Het
Arid4a	T	A	12: 71,069,034 (GRCm39)		probably null	Het
Armc2	C	T	10: 41,842,696 (GRCm39)		probably null	Het
Atp6v1g1	A	G	4: 63,468,258 (GRCm39)	Y87C	probably benign	Het
Cfap54	A	T	10: 92,757,281 (GRCm39)	F273I	possibly damaging	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Csmd2	T	C	4: 128,451,511 (GRCm39)	F113S	unknown	Het
Cyp4a14	C	A	4: 115,344,498 (GRCm39)	G456W	probably damaging	Het
Cyp4a30b	A	G	4: 115,315,559 (GRCm39)	H260R	possibly damaging	Het
Ddrgk1	T	A	2: 130,506,564 (GRCm39)		probably benign	Het
Dennd2b	A	T	7: 109,156,637 (GRCm39)	Y38N	probably benign	Het
Dhx57	A	T	17: 80,558,805 (GRCm39)	D1051E	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eif4enif1	C	T	11: 3,192,586 (GRCm39)	P805S	probably damaging	Het
Eml5	C	T	12: 98,831,660 (GRCm39)	D433N	probably damaging	Het
Fan1	A	G	7: 64,012,938 (GRCm39)	I668T	probably benign	Het
Frmpd4	A	T	X: 166,260,243 (GRCm39)	D1166E	probably benign	Het
Ftdc1	A	T	16: 58,434,342 (GRCm39)	I125K	probably benign	Het
Gria2	G	A	3: 80,609,799 (GRCm39)	T670I	probably damaging	Het
Grid2ip	C	A	5: 143,343,684 (GRCm39)	Q127K	probably benign	Het
Hdhd2	T	C	18: 77,042,702 (GRCm39)	F44L	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hmcn1	A	T	1: 150,614,467 (GRCm39)	V1313D	possibly damaging	Het
Ift172	C	T	5: 31,415,205 (GRCm39)	V1335I	probably benign	Het
Ighv2-2	G	A	12: 113,552,118 (GRCm39)	T40I	possibly damaging	Het
Kif1c	A	G	11: 70,614,907 (GRCm39)	E567G	probably damaging	Het
Klf8	A	T	X: 152,165,678 (GRCm39)	E82D	probably damaging	Het
Kpna7	T	C	5: 144,930,745 (GRCm39)	T367A	probably benign	Het
Lpo	A	G	11: 87,707,350 (GRCm39)	I221T	possibly damaging	Het
Lrrn3	T	C	12: 41,502,722 (GRCm39)	I532V	probably benign	Het
Matr3	T	A	18: 35,705,349 (GRCm39)	S91R	probably benign	Het
Mki67	G	A	7: 135,309,878 (GRCm39)	P191L	probably benign	Het
Mlxip	A	G	5: 123,590,730 (GRCm39)	M878V	probably benign	Het
Mpp7	G	A	18: 7,461,678 (GRCm39)	P65L	possibly damaging	Het
Mroh2a	C	A	1: 88,183,287 (GRCm39)	L1292I	probably damaging	Het
Msh2	C	A	17: 87,993,012 (GRCm39)	Q314K	possibly damaging	Het
Mtor	T	A	4: 148,624,487 (GRCm39)	M2089K	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nlrp4b	C	T	7: 10,444,170 (GRCm39)	Q40*	probably null	Het
Nomo1	C	A	7: 45,696,361 (GRCm39)	T293N	probably damaging	Het
Notum	A	G	11: 120,551,022 (GRCm39)	V48A	probably benign	Het
Npas3	C	T	12: 54,114,796 (GRCm39)	R542*	probably null	Het
Or10z1	T	C	1: 174,078,092 (GRCm39)	S134G	probably benign	Het
Or13a17	A	G	7: 140,271,198 (GRCm39)	I127V	possibly damaging	Het
Or13j1	C	A	4: 43,706,458 (GRCm39)	V37L	probably benign	Het
Or5t16	A	T	2: 86,819,192 (GRCm39)	C109*	probably null	Het
Ostc	T	C	3: 130,497,157 (GRCm39)	N80S	probably damaging	Het
Palmd	T	C	3: 116,717,400 (GRCm39)	R366G	possibly damaging	Het
Parp1	A	G	1: 180,401,230 (GRCm39)	D45G	probably damaging	Het
Pcdhga9	T	A	18: 37,870,524 (GRCm39)	Y118N	possibly damaging	Het
Pes1	C	A	11: 3,926,834 (GRCm39)	T372K	probably benign	Het
Pkp4	C	A	2: 59,138,500 (GRCm39)	T250K	probably benign	Het
Plekhg5	T	A	4: 152,191,960 (GRCm39)	C433S	probably benign	Het
Plin2	A	G	4: 86,586,915 (GRCm39)	M1T	probably null	Het
Prdx4	A	G	X: 154,123,460 (GRCm39)	V15A	probably benign	Het
Psmb8	T	C	17: 34,419,144 (GRCm39)	I146T	probably damaging	Het
Psmd13	A	T	7: 140,466,968 (GRCm39)	T116S	probably damaging	Het
Rel	T	C	11: 23,711,129 (GRCm39)	I13V	probably benign	Het
Reln	C	T	5: 22,254,789 (GRCm39)	V527I	possibly damaging	Het
Rnf6	T	C	5: 146,147,215 (GRCm39)	Y601C	probably benign	Het
Rps6kc1	T	C	1: 190,631,766 (GRCm39)	I48M	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Shoc1	A	C	4: 59,093,850 (GRCm39)	L226R	probably damaging	Het
Slc39a8	T	A	3: 135,592,554 (GRCm39)		probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Tnni3k	C	T	3: 154,644,387 (GRCm39)		probably null	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vmn2r68	A	C	7: 84,882,834 (GRCm39)	M306R	probably benign	Het
Vmn2r70	T	A	7: 85,208,227 (GRCm39)	Y750F	probably damaging	Het
Vwa7	G	A	17: 35,240,218 (GRCm39)	M395I	probably damaging	Het
Zfp53	A	T	17: 21,728,340 (GRCm39)	E124D	probably benign	Het

Other mutations in Kcnk10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Kcnk10	APN	12	98,484,792 (GRCm39)	missense	probably damaging	0.99
IGL01409:Kcnk10	APN	12	98,456,322 (GRCm39)	missense	probably damaging	1.00
IGL02149:Kcnk10	APN	12	98,485,099 (GRCm39)	splice site	probably benign
R0467:Kcnk10	UTSW	12	98,456,204 (GRCm39)	missense	probably benign	0.43
R0558:Kcnk10	UTSW	12	98,402,560 (GRCm39)	missense	possibly damaging	0.89
R0665:Kcnk10	UTSW	12	98,406,944 (GRCm39)	missense	probably benign	0.00
R1033:Kcnk10	UTSW	12	98,484,929 (GRCm39)	missense	possibly damaging	0.93
R1036:Kcnk10	UTSW	12	98,462,445 (GRCm39)	splice site	probably benign
R1398:Kcnk10	UTSW	12	98,402,485 (GRCm39)	missense	probably damaging	0.99
R1482:Kcnk10	UTSW	12	98,456,207 (GRCm39)	missense	probably damaging	0.99
R1675:Kcnk10	UTSW	12	98,462,547 (GRCm39)	missense	probably benign	0.31
R2858:Kcnk10	UTSW	12	98,401,548 (GRCm39)	missense	possibly damaging	0.64
R2871:Kcnk10	UTSW	12	98,401,072 (GRCm39)	missense	probably benign	0.41
R3736:Kcnk10	UTSW	12	98,456,171 (GRCm39)	missense	probably benign	0.31
R3845:Kcnk10	UTSW	12	98,407,003 (GRCm39)	missense	probably benign	0.11
R4077:Kcnk10	UTSW	12	98,401,205 (GRCm39)	missense	probably benign	0.03
R4541:Kcnk10	UTSW	12	98,402,536 (GRCm39)	missense	probably damaging	1.00
R4605:Kcnk10	UTSW	12	98,456,219 (GRCm39)	missense	probably damaging	1.00
R4841:Kcnk10	UTSW	12	98,401,175 (GRCm39)	missense	probably benign	0.00
R4842:Kcnk10	UTSW	12	98,401,175 (GRCm39)	missense	probably benign	0.00
R4886:Kcnk10	UTSW	12	98,401,418 (GRCm39)	missense	possibly damaging	0.89
R4968:Kcnk10	UTSW	12	98,401,161 (GRCm39)	missense	probably benign	0.01
R4977:Kcnk10	UTSW	12	98,406,946 (GRCm39)	missense	probably benign	0.07
R5108:Kcnk10	UTSW	12	98,401,560 (GRCm39)	missense	probably benign	0.39
R5166:Kcnk10	UTSW	12	98,401,254 (GRCm39)	missense	probably damaging	0.98
R5936:Kcnk10	UTSW	12	98,456,191 (GRCm39)	missense	probably benign	0.12
R6193:Kcnk10	UTSW	12	98,407,031 (GRCm39)	missense	probably benign	0.07
R7107:Kcnk10	UTSW	12	98,485,002 (GRCm39)	nonsense	probably null
R7611:Kcnk10	UTSW	12	98,484,899 (GRCm39)	missense	probably damaging	1.00
R7687:Kcnk10	UTSW	12	98,401,355 (GRCm39)	missense	probably damaging	0.97
R8225:Kcnk10	UTSW	12	98,406,849 (GRCm39)	critical splice donor site	probably null
R8270:Kcnk10	UTSW	12	98,401,358 (GRCm39)	missense
R9040:Kcnk10	UTSW	12	98,401,098 (GRCm39)	missense	probably benign	0.00
R9094:Kcnk10	UTSW	12	98,484,775 (GRCm39)	missense	probably benign	0.01
X0067:Kcnk10	UTSW	12	98,485,083 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CAAGCTTTCAGTTGTGTATGGC -3'
(R):5'- AAGACCTTACCCGAGGATGTTC -3'

Sequencing Primer
(F):5'- GCACAGTGAAATATCTTCTTCAATGC -3'
(R):5'- CCGGAATTACTCTCTGGATGAAG -3'

Posted On

2014-12-04