Mutagenetix > Incidental Mutation

Incidental Mutation 'R9614:Kcnj6'

724480

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9614 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94549495-94798560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94633307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 268 (T268I)

Ref Sequence

ENSEMBL: ENSMUSP00000097108 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000095873
AA Change: T268I

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

SMART Domains

Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: T268I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099508
AA Change: T268I

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

SMART Domains

Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: T268I

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: T250I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: T250I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232562
AA Change: T250I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,767,364 (GRCm39)	T317I	possibly damaging	Het
Adamts7	T	A	9: 90,077,251 (GRCm39)	V1306E	probably damaging	Het
Adcy9	C	T	16: 4,106,547 (GRCm39)	D1093N	probably damaging	Het
Adgra3	A	G	5: 50,164,250 (GRCm39)	V243A	probably damaging	Het
Aqp4	C	T	18: 15,526,687 (GRCm39)	A265T	probably benign	Het
Atad2	A	T	15: 57,970,119 (GRCm39)		probably null	Het
Atp13a4	A	G	16: 29,260,398 (GRCm39)	V560A		Het
Best2	A	C	8: 85,740,051 (GRCm39)	C38G		Het
Bicra	A	T	7: 15,705,880 (GRCm39)	S1520R	probably damaging	Het
C1s2	A	G	6: 124,602,588 (GRCm39)	L541P	probably damaging	Het
Calcoco2	T	A	11: 95,991,185 (GRCm39)	H184L	probably benign	Het
Cav1	A	T	6: 17,339,403 (GRCm39)	I163F	probably benign	Het
Cep57l1	T	C	10: 41,597,563 (GRCm39)	H356R	probably damaging	Het
Clu	A	C	14: 66,208,851 (GRCm39)	H32P	unknown	Het
Col5a1	T	A	2: 27,879,186 (GRCm39)	D840E	unknown	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Csmd1	C	A	8: 16,208,239 (GRCm39)	V1239L	probably benign	Het
Cubn	T	A	2: 13,482,945 (GRCm39)	Q267L	probably benign	Het
Cul7	C	T	17: 46,975,212 (GRCm39)	R1689W	probably damaging	Het
Dao	A	T	5: 114,152,060 (GRCm39)	D126V	probably benign	Het
Eif3l	T	C	15: 78,978,423 (GRCm39)	M560T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,379 (GRCm39)	I154N	probably damaging	Het
Fam184a	T	C	10: 53,517,144 (GRCm39)	E980G	probably damaging	Het
Fgf21	T	C	7: 45,264,703 (GRCm39)	T10A	probably benign	Het
Fhad1	A	C	4: 141,678,882 (GRCm39)	V598G	possibly damaging	Het
Foxc1	A	T	13: 31,991,863 (GRCm39)	I225F	possibly damaging	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Galnt9	G	A	5: 110,744,047 (GRCm39)	G294S	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Idh2	A	T	7: 79,747,925 (GRCm39)	Y258*	probably null	Het
Immp2l	T	C	12: 41,160,933 (GRCm39)	V77A	probably damaging	Het
Isl1	T	C	13: 116,441,924 (GRCm39)	E103G		Het
Itgad	A	T	7: 127,803,022 (GRCm39)	T1059S	probably damaging	Het
Lgals3bp	A	G	11: 118,284,037 (GRCm39)	V514A	probably benign	Het
Mcfd2	A	T	17: 87,565,421 (GRCm39)	H27Q	probably benign	Het
Mettl13	A	G	1: 162,364,769 (GRCm39)	W537R	probably damaging	Het
Mybl2	G	T	2: 162,906,225 (GRCm39)	G102V	probably damaging	Het
Nars2	C	T	7: 96,689,125 (GRCm39)	T349M	probably damaging	Het
Nat8f3	A	T	6: 85,738,708 (GRCm39)	V18E		Het
Npepps	T	C	11: 97,149,177 (GRCm39)	E115G	probably benign	Het
Odad3	T	C	9: 21,904,310 (GRCm39)	D322G	probably benign	Het
Oog2	T	A	4: 143,922,707 (GRCm39)	V324E	probably damaging	Het
Or2y12	T	A	11: 49,426,071 (GRCm39)	W20R	probably damaging	Het
Or7g12	A	T	9: 18,899,526 (GRCm39)	M81L	possibly damaging	Het
Or8d2b	G	A	9: 38,789,281 (GRCm39)	V270M	probably damaging	Het
Or8j3b	A	G	2: 86,205,012 (GRCm39)	V248A	probably damaging	Het
Pdzd2	A	G	15: 12,375,486 (GRCm39)	S1550P	probably damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pms2	T	C	5: 143,854,420 (GRCm39)	V243A	probably benign	Het
Ptpn9	A	G	9: 56,944,005 (GRCm39)	D293G	probably benign	Het
Ptprb	A	G	10: 116,203,441 (GRCm39)	K1784R	probably damaging	Het
Rab23	CAA	CA	1: 33,764,077 (GRCm39)		probably null	Het
Raf1	T	C	6: 115,596,597 (GRCm39)	N576D	probably benign	Het
Rasa4	C	A	5: 136,140,343 (GRCm39)	H782Q	possibly damaging	Het
Rims1	C	A	1: 22,491,969 (GRCm39)	E168*	probably null	Het
Rpgrip1l	A	T	8: 91,987,434 (GRCm39)	N874K	possibly damaging	Het
Rxfp4	C	T	3: 88,559,969 (GRCm39)	V161I	possibly damaging	Het
Scel	G	A	14: 103,843,032 (GRCm39)	G558D	probably damaging	Het
Sipa1l2	T	C	8: 126,196,565 (GRCm39)	K723R	probably null	Het
Slc12a1	A	T	2: 125,002,445 (GRCm39)	R142W	probably damaging	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Sox4	C	T	13: 29,136,079 (GRCm39)	G309D	probably damaging	Het
Terb1	T	C	8: 105,223,476 (GRCm39)	T111A	probably benign	Het
Tgfa	G	A	6: 86,248,397 (GRCm39)	R133H	probably damaging	Het
Ticrr	T	C	7: 79,345,754 (GRCm39)	S1836P	probably damaging	Het
Tlk2	A	G	11: 105,138,328 (GRCm39)	D292G	probably benign	Het
Tmc7	A	G	7: 118,141,160 (GRCm39)	I657T	probably benign	Het
Tmprss11c	G	A	5: 86,383,379 (GRCm39)	T349I	probably benign	Het
Trhr	A	G	15: 44,060,981 (GRCm39)	N167S	probably benign	Het
Tsc22d1	T	G	14: 76,653,983 (GRCm39)	I154S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,587 (GRCm39)	Y169H	probably damaging	Het
Vmn1r77	G	T	7: 11,775,766 (GRCm39)	V181L	probably benign	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
R1676:Kcnj6	UTSW	16	94,633,443 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- TTCTCACAGAAAACCCAGGG -3'
(R):5'- CAACGCCTTCATGGTAGGATG -3'

Sequencing Primer
(F):5'- GCGAAACCCATCTTACCTGTGG -3'
(R):5'- GTTTGTGAAAATATCCCAACCCAAG -3'

Posted On

2022-09-12