Mutagenetix > Incidental Mutation

Incidental Mutation 'R1676:Kcnj6'

188131

Institutional Source

Beutler Lab

Gene Symbol

Kcnj6

Ensembl Gene

ENSMUSG00000043301

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 6

Synonyms

GIRK2, Kir3.2, KCNJ7

MMRRC Submission

039712-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R1676 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94549495-94798560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94633443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 223 (M223L)

Ref Sequence

ENSEMBL: ENSMUSP00000093558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095873] [ENSMUST00000099508] [ENSMUST00000165538] [ENSMUST00000232562]

AlphaFold

no structure available at present

PDB Structure

Crystal Structure of the Cytoplasmic Domain of G-Protein-Gated Inward Rectifier Potassium Channel Kir3.2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095873
AA Change: M223L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: M223L

Domain	Start	End	E-Value	Type
Pfam:IRK	59	397	9.3e-166	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099508
AA Change: M223L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: M223L

Domain	Start	End	E-Value	Type
Pfam:IRK	59	382	8.5e-146	PFAM
low complexity region	396	411	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165538
AA Change: M205L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: M205L

Domain	Start	End	E-Value	Type
Pfam:IRK	41	302	5.3e-122	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232403

Predicted Effect

possibly damaging
Transcript: ENSMUST00000232562
AA Change: M205L

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

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 G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	T	11: 58,771,819 (GRCm39)	A434S	possibly damaging	Het
Abhd8	T	A	8: 71,914,517 (GRCm39)	D37V	probably damaging	Het
Acvr2a	G	A	2: 48,763,095 (GRCm39)	S97N	probably benign	Het
Ampd3	T	A	7: 110,394,940 (GRCm39)	H296Q	probably damaging	Het
Arid4a	G	A	12: 71,122,112 (GRCm39)	S509N	probably benign	Het
Cap2	T	G	13: 46,791,335 (GRCm39)	H167Q	probably damaging	Het
Car8	A	G	4: 8,185,616 (GRCm39)	L180S	probably damaging	Het
Casp8	T	A	1: 58,883,575 (GRCm39)	I314N	probably damaging	Het
Cavin2	T	A	1: 51,340,330 (GRCm39)	S336T	probably benign	Het
Cdc14b	A	T	13: 64,373,416 (GRCm39)	I119N	possibly damaging	Het
Cemip	T	A	7: 83,613,246 (GRCm39)	I651F	possibly damaging	Het
Cfap57	T	A	4: 118,453,137 (GRCm39)	D522V	probably damaging	Het
Clrn3	A	T	7: 135,120,307 (GRCm39)	V93D	probably damaging	Het
Crppa	T	C	12: 36,526,720 (GRCm39)	C170R	probably benign	Het
Cyp4f39	A	G	17: 32,701,176 (GRCm39)	D222G	probably benign	Het
D5Ertd579e	A	G	5: 36,773,453 (GRCm39)	V314A	probably benign	Het
Dchs1	C	T	7: 105,404,128 (GRCm39)	V2805I	probably benign	Het
Dsp	A	T	13: 38,377,350 (GRCm39)	K1712*	probably null	Het
Emilin2	T	C	17: 71,581,085 (GRCm39)	D547G	probably benign	Het
Erbb3	T	C	10: 128,419,117 (GRCm39)	H248R	probably benign	Het
Erich3	A	G	3: 154,468,260 (GRCm39)		probably benign	Het
Fbn1	T	C	2: 125,151,701 (GRCm39)	T2518A	probably damaging	Het
Fzd2	G	A	11: 102,496,707 (GRCm39)	V384M	probably damaging	Het
Gpc5	T	A	14: 115,607,510 (GRCm39)	S371T	probably damaging	Het
Hbb-bh2	T	C	7: 103,488,362 (GRCm39)	K145R	probably null	Het
Hectd1	G	T	12: 51,791,571 (GRCm39)	P2558Q	probably damaging	Het
Hgsnat	C	T	8: 26,444,633 (GRCm39)		probably null	Het
Hirip3	T	C	7: 126,462,647 (GRCm39)		probably null	Het
Itpkc	T	C	7: 26,907,706 (GRCm39)	D666G	probably damaging	Het
Jmjd1c	T	A	10: 67,060,588 (GRCm39)	D693E	probably benign	Het
Katnbl1	T	C	2: 112,236,454 (GRCm39)	L60P	probably damaging	Het
Kcna1	T	A	6: 126,619,645 (GRCm39)	E225V	probably damaging	Het
Kcnk7	G	T	19: 5,757,006 (GRCm39)	V332F	probably benign	Het
Kmt5a	GAA	GA	5: 124,597,948 (GRCm39)		probably null	Het
Mdga2	C	A	12: 66,615,546 (GRCm39)	G618V	probably damaging	Het
Mdga2	C	A	12: 66,615,547 (GRCm39)	G618*	probably null	Het
Morc2b	T	C	17: 33,354,955 (GRCm39)	E939G	possibly damaging	Het
Mstn	T	A	1: 53,101,224 (GRCm39)	D100E	probably benign	Het
Mthfd1l	G	A	10: 4,033,877 (GRCm39)		probably null	Het
Muc20	T	A	16: 32,614,649 (GRCm39)	T243S	probably damaging	Het
Myo1d	A	T	11: 80,575,247 (GRCm39)	N156K	probably damaging	Het
Myo7a	A	G	7: 97,748,679 (GRCm39)		probably null	Het
Naa35	A	T	13: 59,760,490 (GRCm39)	Q274L	probably damaging	Het
Ncam1	G	A	9: 49,468,472 (GRCm39)	T329I	probably damaging	Het
Nisch	T	C	14: 30,902,859 (GRCm39)		probably benign	Het
Nlrp1b	A	T	11: 71,073,637 (GRCm39)	W69R	probably benign	Het
Nrap	T	A	19: 56,323,687 (GRCm39)	H1294L	probably damaging	Het
Nsun6	T	A	2: 15,052,024 (GRCm39)	R56*	probably null	Het
Nudt1	A	G	5: 140,320,378 (GRCm39)		probably null	Het
Nxph4	T	G	10: 127,362,077 (GRCm39)	K271N	probably damaging	Het
Or1af1	A	T	2: 37,109,653 (GRCm39)	R51*	probably null	Het
Or4a66	T	G	2: 88,531,661 (GRCm39)	H4P	probably benign	Het
Or51e2	T	A	7: 102,391,605 (GRCm39)	I202F	probably damaging	Het
Or52a20	T	C	7: 103,366,319 (GRCm39)	W173R	probably benign	Het
Otud6b	T	A	4: 14,825,617 (GRCm39)	N71I	probably damaging	Het
Parp8	T	A	13: 117,014,064 (GRCm39)	D623V	probably damaging	Het
Pcdhb5	T	C	18: 37,453,805 (GRCm39)	S62P	probably benign	Het
Ppp1r12b	A	G	1: 134,705,190 (GRCm39)	S833P	probably damaging	Het
Ppp1r1a	T	G	15: 103,441,915 (GRCm39)	D51A	probably damaging	Het
Prag1	C	A	8: 36,570,052 (GRCm39)	P212T	probably damaging	Het
Prxl2b	C	T	4: 154,981,520 (GRCm39)	V186I	probably benign	Het
Ptdss1	A	G	13: 67,081,701 (GRCm39)	T44A	probably damaging	Het
Rab14	T	C	2: 35,076,735 (GRCm39)	H83R	possibly damaging	Het
Rapgef3	C	T	15: 97,659,063 (GRCm39)	G101E	probably benign	Het
Rimbp3	T	A	16: 17,028,977 (GRCm39)	D800E	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Selenbp1	A	G	3: 94,851,854 (GRCm39)	D465G	probably damaging	Het
Slc28a2b	T	C	2: 122,352,340 (GRCm39)	S366P	probably damaging	Het
Slc29a1	T	C	17: 45,899,936 (GRCm39)	D251G	probably damaging	Het
Slc6a11	G	T	6: 114,224,627 (GRCm39)	V604F	probably benign	Het
Sltm	T	A	9: 70,480,929 (GRCm39)	D260E	probably damaging	Het
Spta1	G	A	1: 174,007,405 (GRCm39)	V212M	probably damaging	Het
St6gal2	T	C	17: 55,803,396 (GRCm39)		probably null	Het
Tc2n	A	G	12: 101,655,251 (GRCm39)	S235P	probably damaging	Het
Tenm3	T	A	8: 48,870,154 (GRCm39)	N213I	possibly damaging	Het
Ticam2	T	C	18: 46,693,677 (GRCm39)	T137A	probably damaging	Het
Ttn	TCCC	TCCCC	2: 76,573,251 (GRCm39)		probably null	Het
Tyk2	G	A	9: 21,026,545 (GRCm39)	Q684*	probably null	Het
Ubqln1	A	G	13: 58,327,205 (GRCm39)	F478S	possibly damaging	Het
Uckl1	G	A	2: 181,216,711 (GRCm39)	T78I	probably damaging	Het
Uhmk1	A	G	1: 170,027,581 (GRCm39)	V372A	probably damaging	Het
Unc5c	G	A	3: 141,463,598 (GRCm39)	V240I	possibly damaging	Het
Ush2a	T	C	1: 188,460,782 (GRCm39)	L2681P	probably damaging	Het
Vmn2r1	C	T	3: 63,997,603 (GRCm39)	Q420*	probably null	Het
Vmn2r101	A	T	17: 19,832,184 (GRCm39)	T727S	probably benign	Het
Vmn2r79	A	G	7: 86,651,839 (GRCm39)	T413A	probably benign	Het
Vps13c	T	C	9: 67,834,244 (GRCm39)	V1637A	probably benign	Het
Xpc	A	G	6: 91,469,929 (GRCm39)	V765A	possibly damaging	Het
Zbtb18	T	G	1: 177,274,913 (GRCm39)		probably null	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	probably benign	Het
Zfp735	A	G	11: 73,602,301 (GRCm39)	N415S	possibly damaging	Het

Other mutations in Kcnj6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Kcnj6	APN	16	94,633,314 (GRCm39)	missense	probably damaging	0.99
IGL01433:Kcnj6	APN	16	94,633,814 (GRCm39)	missense	probably benign	0.21
IGL01603:Kcnj6	APN	16	94,634,058 (GRCm39)	missense	probably benign	0.00
IGL02212:Kcnj6	APN	16	94,633,346 (GRCm39)	missense	probably damaging	1.00
IGL02982:Kcnj6	APN	16	94,633,376 (GRCm39)	missense	possibly damaging	0.89
IGL03351:Kcnj6	APN	16	94,633,442 (GRCm39)	missense	probably damaging	1.00
Seizure	UTSW	16	94,633,518 (GRCm39)	missense	probably damaging	1.00
H8477:Kcnj6	UTSW	16	94,633,796 (GRCm39)	missense	probably damaging	1.00
IGL02796:Kcnj6	UTSW	16	94,633,778 (GRCm39)	missense	probably benign	0.00
R0070:Kcnj6	UTSW	16	94,742,056 (GRCm39)	missense	probably benign
R1558:Kcnj6	UTSW	16	94,563,358 (GRCm39)	missense	possibly damaging	0.57
R2435:Kcnj6	UTSW	16	94,563,538 (GRCm39)	missense	probably damaging	0.99
R3700:Kcnj6	UTSW	16	94,633,865 (GRCm39)	missense	probably damaging	0.96
R3800:Kcnj6	UTSW	16	94,633,886 (GRCm39)	missense	probably damaging	1.00
R4012:Kcnj6	UTSW	16	94,625,877 (GRCm39)	splice site	probably null
R4899:Kcnj6	UTSW	16	94,633,472 (GRCm39)	missense	probably damaging	1.00
R5124:Kcnj6	UTSW	16	94,633,518 (GRCm39)	missense	probably damaging	1.00
R5359:Kcnj6	UTSW	16	94,633,312 (GRCm39)	nonsense	probably null
R5560:Kcnj6	UTSW	16	94,633,824 (GRCm39)	missense	probably benign	0.06
R5583:Kcnj6	UTSW	16	94,634,060 (GRCm39)	missense	probably benign	0.26
R6057:Kcnj6	UTSW	16	94,633,236 (GRCm39)	missense	probably damaging	1.00
R6330:Kcnj6	UTSW	16	94,563,460 (GRCm39)	missense	possibly damaging	0.93
R6582:Kcnj6	UTSW	16	94,633,685 (GRCm39)	missense	possibly damaging	0.93
R6604:Kcnj6	UTSW	16	94,563,504 (GRCm39)	missense	probably damaging	1.00
R6802:Kcnj6	UTSW	16	94,563,436 (GRCm39)	missense	probably benign	0.06
R6866:Kcnj6	UTSW	16	94,563,536 (GRCm39)	missense	probably damaging	1.00
R7304:Kcnj6	UTSW	16	94,742,042 (GRCm39)	missense	probably benign
R7337:Kcnj6	UTSW	16	94,634,073 (GRCm39)	missense	probably benign	0.10
R7396:Kcnj6	UTSW	16	94,563,306 (GRCm39)	missense	probably benign	0.31
R8543:Kcnj6	UTSW	16	94,563,250 (GRCm39)	missense	possibly damaging	0.73
R9614:Kcnj6	UTSW	16	94,633,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAACCCATCTTACCTGTGGCTTCC -3'
(R):5'- GACTCCTTGTGTCACCAACCTCAAC -3'

Sequencing Primer
(F):5'- TCCCAGAAGGGACTCTGTTG -3'
(R):5'- GTTATGGCTACCGGGTCATCAC -3'

Posted On

2014-05-09