Mutagenetix > Incidental Mutation

Incidental Mutation 'R6866:Kcnj6'

535947

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

044965-MU

Accession Numbers

Essential gene?

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

Stock #

R6866 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94549495-94798560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94563536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 321 (C321S)

Ref Sequence

ENSEMBL: ENSMUSP00000093558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095873] [ENSMUST00000099508] [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: C321S

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

SMART Domains

Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: C321S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099508
AA Change: C321S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: C321S

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: ENSMUST00000232562
AA Change: C303S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	G	6: 85,598,080 (GRCm39)	T1438A	possibly damaging	Het
Als2	T	A	1: 59,250,292 (GRCm39)	Q484L	probably damaging	Het
Apeh	G	A	9: 107,969,878 (GRCm39)	H186Y	probably damaging	Het
Bcl2l13	T	A	6: 120,839,850 (GRCm39)	N49K	probably benign	Het
Bptf	T	C	11: 106,964,406 (GRCm39)	D1596G	probably damaging	Het
Brsk1	T	C	7: 4,709,406 (GRCm39)	M325T	probably damaging	Het
Caly	T	C	7: 139,650,532 (GRCm39)	M137V	probably benign	Het
Cdca2	T	C	14: 67,931,115 (GRCm39)	E526G	possibly damaging	Het
Cnga4	A	G	7: 105,056,952 (GRCm39)	S352G	possibly damaging	Het
Cntnap5c	A	C	17: 58,399,289 (GRCm39)	T381P	probably benign	Het
Cr2	T	A	1: 194,833,999 (GRCm39)	Y633F	probably damaging	Het
Cryba1	T	C	11: 77,610,355 (GRCm39)	N120S	probably benign	Het
Cyfip2	G	A	11: 46,133,286 (GRCm39)	R805*	probably null	Het
Dnah7c	C	A	1: 46,696,403 (GRCm39)	P2095Q	probably damaging	Het
Eif3k	T	C	7: 28,676,651 (GRCm39)	E110G	possibly damaging	Het
Extl2	T	A	3: 115,821,002 (GRCm39)	M283K	probably damaging	Het
Extl2	A	G	3: 115,821,001 (GRCm39)	M283V	probably damaging	Het
Focad	T	C	4: 88,321,623 (GRCm39)	I1658T	probably benign	Het
Fstl5	A	T	3: 76,229,532 (GRCm39)	H111L	probably damaging	Het
Garnl3	A	G	2: 32,892,785 (GRCm39)		probably null	Het
Gm3633	T	A	14: 42,462,579 (GRCm39)		probably benign	Het
Il4i1	T	A	7: 44,485,963 (GRCm39)		probably null	Het
Kif20a	A	T	18: 34,761,546 (GRCm39)	Y313F	probably benign	Het
Kmt2d	T	G	15: 98,755,274 (GRCm39)		probably benign	Het
Kynu	T	A	2: 43,453,122 (GRCm39)	Y48*	probably null	Het
Ly9	T	C	1: 171,432,847 (GRCm39)	I55M	probably damaging	Het
Mgme1	T	C	2: 144,118,439 (GRCm39)	V237A	probably damaging	Het
Mmp16	T	A	4: 17,853,800 (GRCm39)	L27H	probably benign	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myh1	A	C	11: 67,115,219 (GRCm39)	D1918A	probably damaging	Het
Myo5a	G	A	9: 75,047,970 (GRCm39)	C266Y	probably damaging	Het
Nckap5l	A	G	15: 99,324,349 (GRCm39)	I718T	probably benign	Het
Nptx1	A	G	11: 119,437,476 (GRCm39)		probably null	Het
Or56a42-ps1	T	A	7: 104,775,825 (GRCm39)	M228L	probably benign	Het
Or5k16	A	G	16: 58,736,351 (GRCm39)	Y218H	probably damaging	Het
Or5p76	A	G	7: 108,122,377 (GRCm39)	F260S	probably damaging	Het
Phc3	T	A	3: 30,968,680 (GRCm39)	K783*	probably null	Het
Pkdrej	A	T	15: 85,705,082 (GRCm39)	C285S	probably damaging	Het
Pot1b	T	A	17: 55,960,474 (GRCm39)	T619S	possibly damaging	Het
Pramel32	T	A	4: 88,545,977 (GRCm39)	D455V	probably damaging	Het
Psg21	A	T	7: 18,386,209 (GRCm39)	V259E	probably damaging	Het
Pvr	A	C	7: 19,652,555 (GRCm39)	I120S	probably benign	Het
Rbm17	T	G	2: 11,602,901 (GRCm39)	I68L	probably benign	Het
Rnf138	C	T	18: 21,135,199 (GRCm39)	P28L	probably damaging	Het
Rnf207	C	T	4: 152,396,989 (GRCm39)	C385Y	possibly damaging	Het
Serping1	A	C	2: 84,600,577 (GRCm39)	V255G	probably benign	Het
Slc25a3	A	T	10: 90,955,567 (GRCm39)	V91E	probably damaging	Het
Slc26a8	T	C	17: 28,857,455 (GRCm39)	D896G	probably benign	Het
Slc27a5	T	A	7: 12,731,443 (GRCm39)	T183S	probably benign	Het
Slc33a1	A	T	3: 63,850,744 (GRCm39)	F527I	probably benign	Het
Sting1	T	C	18: 35,872,482 (GRCm39)	H50R	probably damaging	Het
Strn4	A	T	7: 16,562,710 (GRCm39)	D283V	probably damaging	Het
Sult1e1	G	A	5: 87,734,625 (GRCm39)	T107I	probably damaging	Het
Tango6	G	A	8: 107,469,104 (GRCm39)		probably null	Het
Tecrl	G	T	5: 83,461,161 (GRCm39)	P99T	probably damaging	Het
Ticrr	T	C	7: 79,343,705 (GRCm39)	L1190P	possibly damaging	Het
Timm50	C	T	7: 28,005,370 (GRCm39)	R349H	probably damaging	Het
Tjp2	A	G	19: 24,079,355 (GRCm39)	I840T	probably damaging	Het
Tmem45a2	T	A	16: 56,867,386 (GRCm39)	N105I	probably damaging	Het
Tsbp1	T	A	17: 34,678,935 (GRCm39)	C216S	possibly damaging	Het
Zfp148	T	A	16: 33,288,496 (GRCm39)	C162S	probably damaging	Het
Zfp534	T	C	4: 147,758,938 (GRCm39)	K577R	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
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'- CCAATTCTGCATGTTGGTTCAG -3'
(R):5'- TCTGCAATGTGAAAGACGGCTC -3'

Sequencing Primer
(F):5'- TGGACACAGACCAACTCAGAGG -3'
(R):5'- CTGCAATGTGAAAGACGGCTCTATAG -3'

Posted On

2018-10-18