Mutagenetix > Incidental Mutation

Incidental Mutation 'R6251:Kcnj14'

506224

Institutional Source

Beutler Lab

Gene Symbol

Kcnj14

Ensembl Gene

ENSMUSG00000058743

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 14

Synonyms

Kir2.4, A930026G01Rik, IRK4

MMRRC Submission

044368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6251 (G1)

Quality Score

130.008

Status

Not validated

Chromosome

Chromosomal Location

45465871-45474180 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45467440 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 302 (E302V)

Ref Sequence

ENSEMBL: ENSMUSP00000071829 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056820] [ENSMUST00000071937] [ENSMUST00000107729] [ENSMUST00000209245] [ENSMUST00000210137] [ENSMUST00000210232] [ENSMUST00000210853] [ENSMUST00000210898] [ENSMUST00000211783] [ENSMUST00000211263]

AlphaFold

Q8JZN3

Predicted Effect

probably benign
Transcript: ENSMUST00000056820

SMART Domains

Protein: ENSMUSP00000051423
Gene: ENSMUSG00000003269

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART
PH	260	378	3.07e-23	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000071937
AA Change: E302V

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

SMART Domains

Protein: ENSMUSP00000071829
Gene: ENSMUSG00000058743
AA Change: E302V

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:IRK	51	377	1.1e-146	PFAM
low complexity region	399	405	N/A	INTRINSIC
low complexity region	418	434	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107729

SMART Domains

Protein: ENSMUSP00000103357
Gene: ENSMUSG00000003269

Domain	Start	End	E-Value	Type
Sec7	58	243	1.03e-102	SMART
PH	260	377	1.16e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000209245

Predicted Effect

probably benign
Transcript: ENSMUST00000210137

Predicted Effect

probably benign
Transcript: ENSMUST00000210232

Predicted Effect

probably benign
Transcript: ENSMUST00000210853

Predicted Effect

probably benign
Transcript: ENSMUST00000210898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211394

Predicted Effect

probably benign
Transcript: ENSMUST00000211783

Predicted Effect

probably benign
Transcript: ENSMUST00000211263

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel, and probably has a role in controlling the excitability of motor neurons. [provided by RefSeq, Feb 2013]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,445 (GRCm39)	S36P	probably damaging	Het
Agmo	A	G	12: 37,302,538 (GRCm39)	D125G	probably damaging	Het
Arhgap26	A	T	18: 39,490,880 (GRCm39)	S328C	probably null	Het
Arl6	T	C	16: 59,439,169 (GRCm39)	D175G	probably damaging	Het
Asb3	G	A	11: 31,005,559 (GRCm39)	A192T	probably damaging	Het
Atp10b	A	T	11: 43,126,573 (GRCm39)	M1110L	possibly damaging	Het
Cacna1i	T	C	15: 80,220,883 (GRCm39)	I175T	probably damaging	Het
Car15	A	T	16: 17,655,227 (GRCm39)	I71N	probably benign	Het
Casq1	T	A	1: 172,044,407 (GRCm39)	Y140F	probably benign	Het
Ccdc93	C	T	1: 121,362,269 (GRCm39)	T17M	possibly damaging	Het
Cfap46	CCTTCTTCT	CCTTCT	7: 139,218,816 (GRCm39)		probably benign	Het
Ciart	G	A	3: 95,788,323 (GRCm39)		probably benign	Het
Cul5	A	T	9: 53,558,094 (GRCm39)	V170D	probably benign	Het
Cyb5r3	T	C	15: 83,038,917 (GRCm39)	D224G	probably benign	Het
Daam1	G	A	12: 72,035,723 (GRCm39)	G964R	probably damaging	Het
Daglb	T	A	5: 143,475,689 (GRCm39)	L383Q	probably damaging	Het
Dazap2	T	G	15: 100,514,864 (GRCm39)	H28Q	possibly damaging	Het
Dnttip2	A	T	3: 122,068,905 (GRCm39)	D40V	probably benign	Het
Dynlt2b	T	A	16: 32,245,727 (GRCm39)	D125E	possibly damaging	Het
Epn1	G	T	7: 5,098,925 (GRCm39)	D406Y	probably damaging	Het
Epn1	G	T	7: 5,098,935 (GRCm39)	R409L	probably damaging	Het
Evc	T	C	5: 37,457,843 (GRCm39)	T966A	probably benign	Het
Extl3	T	C	14: 65,314,375 (GRCm39)	D269G	probably damaging	Het
Gfra3	TGCGC	TGC	18: 34,828,864 (GRCm39)		probably null	Het
Gpr87	A	T	3: 59,086,528 (GRCm39)	F326I	probably damaging	Het
Hivep3	C	A	4: 119,952,137 (GRCm39)	P151H	probably damaging	Het
Kdm5d	T	C	Y: 921,693 (GRCm39)	Y534H	probably damaging	Homo
Map3k5	T	A	10: 20,014,006 (GRCm39)		probably null	Het
Mdn1	A	G	4: 32,748,590 (GRCm39)	T4212A	probably benign	Het
Ms4a6d	A	T	19: 11,564,504 (GRCm39)	S122R	probably damaging	Het
Mtarc1	G	A	1: 184,527,648 (GRCm39)	R271W	probably damaging	Het
Nectin3	A	T	16: 46,215,513 (GRCm39)	H76Q	probably damaging	Het
Notch1	C	A	2: 26,364,182 (GRCm39)	E846D	possibly damaging	Het
Or1e23	A	G	11: 73,407,534 (GRCm39)	S164P	probably benign	Het
Or4a67	T	C	2: 88,598,632 (GRCm39)	E9G	probably damaging	Het
Or8b36	GTTT	GTTTGCTTTTT	9: 37,937,842 (GRCm39)		probably null	Het
Or8b36	TT	TTGCTGTGT	9: 37,937,844 (GRCm39)		probably null	Het
Or8b36	G	GGGATTGC	9: 37,937,833 (GRCm39)		probably null	Het
Or8b36	TGTTT	TGTTTGCAGTTT	9: 37,937,841 (GRCm39)		probably null	Het
Or8g18	T	A	9: 39,149,514 (GRCm39)	I72F	possibly damaging	Het
Pfkl	C	T	10: 77,825,399 (GRCm39)		probably null	Het
Pigz	T	C	16: 31,764,424 (GRCm39)	V494A	possibly damaging	Het
Pik3r4	T	C	9: 105,531,247 (GRCm39)	V516A	probably benign	Het
Polr2b	G	A	5: 77,496,141 (GRCm39)	R1104K	probably benign	Het
Rap1a	A	T	3: 105,639,311 (GRCm39)	L116*	probably null	Het
Rnf114	T	C	2: 167,356,649 (GRCm39)	*230R	probably null	Het
Rtl1	G	T	12: 109,560,083 (GRCm39)	N585K	probably benign	Het
Serpinb5	G	T	1: 106,802,795 (GRCm39)	R110I	possibly damaging	Het
Spink6	T	C	18: 44,207,498 (GRCm39)		probably null	Het
Spopfm1	G	T	3: 94,173,208 (GRCm39)	S72I	probably damaging	Het
Stk39	A	T	2: 68,137,383 (GRCm39)		probably null	Het
Tcstv2a	T	C	13: 120,724,907 (GRCm39)		probably benign	Het
Tcte1	A	T	17: 45,846,085 (GRCm39)	T230S	probably benign	Het
Tecpr1	C	A	5: 144,135,394 (GRCm39)	V1020L	probably damaging	Het
Tmc7	T	C	7: 118,160,261 (GRCm39)	Y192C	possibly damaging	Het
Trim63	A	T	4: 134,050,537 (GRCm39)	T274S	probably benign	Het
Wdr43	G	A	17: 71,957,048 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Kcnj14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2241:Kcnj14	UTSW	7	45,469,325 (GRCm39)	missense	probably benign	0.03
R6122:Kcnj14	UTSW	7	45,468,875 (GRCm39)	missense	possibly damaging	0.83
R6165:Kcnj14	UTSW	7	45,469,424 (GRCm39)	missense	possibly damaging	0.95
R6228:Kcnj14	UTSW	7	45,468,921 (GRCm39)	missense	probably damaging	0.99
R7062:Kcnj14	UTSW	7	45,467,314 (GRCm39)	missense	probably damaging	1.00
R7833:Kcnj14	UTSW	7	45,467,317 (GRCm39)	missense	probably damaging	1.00
R8739:Kcnj14	UTSW	7	45,468,812 (GRCm39)	missense	probably damaging	1.00
R9066:Kcnj14	UTSW	7	45,469,073 (GRCm39)	missense	probably damaging	1.00
R9069:Kcnj14	UTSW	7	45,469,388 (GRCm39)	missense	probably benign	0.41
R9165:Kcnj14	UTSW	7	45,469,068 (GRCm39)	missense	possibly damaging	0.92
R9392:Kcnj14	UTSW	7	45,467,159 (GRCm39)	missense	probably benign	0.10
Z1177:Kcnj14	UTSW	7	45,469,333 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTGACTTAGGGCTGTGG -3'
(R):5'- TGAGTACATCCCACTGGACC -3'

Sequencing Primer
(F):5'- TCCTTGGCACTGCAGACTG -3'
(R):5'- CCACCAGGATGTAGATGTTGG -3'

Posted On

2018-03-15