Mutagenetix > Incidental Mutation

Incidental Mutation 'R6057:Kcnj6'

483013

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

Accession Numbers

Essential gene?

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

Stock #

R6057 (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 94633236 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 274 (W274R)

Ref Sequence

ENSEMBL: ENSMUSP00000156014 (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: W292R

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

SMART Domains

Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: W292R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099508
AA Change: W292R

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

SMART Domains

Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: W292R

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: W274R

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

SMART Domains

Protein: ENSMUSP00000130321
Gene: ENSMUSG00000043301
AA Change: W274R

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

probably damaging
Transcript: ENSMUST00000232562
AA Change: W274R

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	A	G	6: 52,156,500 (GRCm39)		probably benign	Het
Acan	A	G	7: 78,749,530 (GRCm39)	S11G	probably null	Het
Ankrd13d	A	C	19: 4,332,256 (GRCm39)	V56G	probably damaging	Het
Arl15	A	G	13: 114,104,151 (GRCm39)	Y76C	probably damaging	Het
Aspg	G	A	12: 112,087,432 (GRCm39)	C296Y	probably damaging	Het
Astl	T	A	2: 127,187,889 (GRCm39)	D101E	probably benign	Het
Bmpr2	A	G	1: 59,881,977 (GRCm39)	N202S	probably benign	Het
Borcs7	T	C	19: 46,690,003 (GRCm39)	*106Q	probably null	Het
Brip1	A	G	11: 85,955,865 (GRCm39)	S883P	possibly damaging	Het
Cacng2	A	T	15: 78,002,991 (GRCm39)	L34Q	probably damaging	Het
Catip	A	C	1: 74,402,077 (GRCm39)	D84A	probably damaging	Het
Ccdc162	A	G	10: 41,510,037 (GRCm39)	L856S	possibly damaging	Het
Ccdc38	A	G	10: 93,417,608 (GRCm39)	K500E	probably damaging	Het
Ccser2	T	C	14: 36,663,122 (GRCm39)	K21E	probably damaging	Het
Cd93	A	T	2: 148,283,439 (GRCm39)	Y636N	probably damaging	Het
Cep128	A	T	12: 91,262,998 (GRCm39)	N300K	possibly damaging	Het
Cfap44	A	G	16: 44,269,460 (GRCm39)	T1155A	probably benign	Het
Clec16a	T	C	16: 10,447,951 (GRCm39)	L550P	probably damaging	Het
Csmd3	T	C	15: 47,618,787 (GRCm39)	Y1867C	probably damaging	Het
Cul3	A	T	1: 80,249,249 (GRCm39)	I674N	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp2d34	T	C	15: 82,500,552 (GRCm39)	H429R	probably benign	Het
Dab2ip	T	A	2: 35,582,267 (GRCm39)	C4*	probably null	Het
Dcaf1	A	G	9: 106,731,446 (GRCm39)	E641G	probably damaging	Het
Dda1	T	A	8: 71,927,276 (GRCm39)		probably benign	Het
Dmgdh	C	T	13: 93,888,960 (GRCm39)	T866I	probably benign	Het
Ect2l	T	C	10: 18,037,250 (GRCm39)	T383A	probably benign	Het
Ets2	A	G	16: 95,515,416 (GRCm39)	N181D	probably benign	Het
Ezh2	A	G	6: 47,529,357 (GRCm39)	F222L	probably damaging	Het
Frem3	T	C	8: 81,342,216 (GRCm39)	L1503P	probably damaging	Het
Fsip2	C	A	2: 82,809,777 (GRCm39)	A2032E	probably damaging	Het
Gm1818	C	T	12: 48,602,346 (GRCm39)		noncoding transcript	Het
Gm9493	A	G	19: 23,597,106 (GRCm39)	S1G	probably damaging	Het
Grin2b	A	G	6: 135,710,942 (GRCm39)	I868T	possibly damaging	Het
Ift22	A	T	5: 136,939,987 (GRCm39)	T17S	possibly damaging	Het
Il4ra	T	C	7: 125,170,735 (GRCm39)	W216R	probably damaging	Het
Kctd19	G	A	8: 106,123,082 (GRCm39)	H111Y	probably damaging	Het
Kremen2	A	G	17: 23,961,679 (GRCm39)	V276A	probably benign	Het
Lig1	C	A	7: 13,022,598 (GRCm39)	Q143K	probably damaging	Het
Lrp1	A	T	10: 127,403,359 (GRCm39)	D2071E	probably damaging	Het
Macf1	C	T	4: 123,404,536 (GRCm39)	M475I	probably damaging	Het
Mbtd1	G	A	11: 93,820,485 (GRCm39)	A427T	probably damaging	Het
Myof	A	G	19: 37,915,429 (GRCm39)		probably null	Het
Nbeal2	T	C	9: 110,470,945 (GRCm39)	D308G	possibly damaging	Het
Ncdn	T	C	4: 126,638,824 (GRCm39)	Q665R	probably benign	Het
Nkd1	T	C	8: 89,316,442 (GRCm39)		probably null	Het
Nktr	G	A	9: 121,577,455 (GRCm39)		probably benign	Het
Npc1l1	A	T	11: 6,167,806 (GRCm39)	M995K	possibly damaging	Het
Or10ag59	C	A	2: 87,406,363 (GRCm39)	R312S	probably benign	Het
Or11g7	A	T	14: 50,691,201 (GRCm39)	R231*	probably null	Het
Or14n1-ps1	T	A	7: 86,092,397 (GRCm39)	C69*	probably null	Het
Padi4	T	C	4: 140,487,351 (GRCm39)	T184A	probably damaging	Het
Pgm2l1	C	T	7: 99,915,881 (GRCm39)	P409S	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pgr	T	C	9: 8,902,006 (GRCm39)	L513P	probably damaging	Het
Pikfyve	T	A	1: 65,311,730 (GRCm39)	I1989N	probably damaging	Het
Prrc2a	T	C	17: 35,371,716 (GRCm39)	T1806A	probably benign	Het
Psd	T	C	19: 46,311,753 (GRCm39)	E309G	possibly damaging	Het
Qtrt1	C	T	9: 21,323,299 (GRCm39)	T50I	probably damaging	Het
Rims2	A	C	15: 39,538,416 (GRCm39)	T1320P	probably damaging	Het
Scn11a	T	G	9: 119,594,514 (GRCm39)	N1293T	probably damaging	Het
Scn8a	T	C	15: 100,872,548 (GRCm39)	F529S	possibly damaging	Het
Sec14l4	A	T	11: 3,985,142 (GRCm39)	D25V	possibly damaging	Het
Sema3a	C	T	5: 13,615,832 (GRCm39)	R419C	probably damaging	Het
Slc12a1	T	C	2: 125,032,133 (GRCm39)	Y595H	probably damaging	Het
Slc25a28	A	T	19: 43,655,364 (GRCm39)	H170Q	possibly damaging	Het
Slc26a1	T	A	5: 108,821,631 (GRCm39)	Q86L	probably damaging	Het
Slc48a1	T	A	15: 97,687,798 (GRCm39)	W51R	probably damaging	Het
Sptlc3	T	A	2: 139,423,533 (GRCm39)	V309D	probably damaging	Het
Srcap	G	A	7: 127,140,528 (GRCm39)	S1375N	probably damaging	Het
Tanc1	C	A	2: 59,647,837 (GRCm39)	H986Q	possibly damaging	Het
Tbc1d4	A	G	14: 101,727,353 (GRCm39)	V486A	probably damaging	Het
Tceanc2	T	C	4: 107,004,776 (GRCm39)	D124G	probably damaging	Het
Tdrd9	A	G	12: 111,979,720 (GRCm39)	M402V	possibly damaging	Het
Tmem132d	T	C	5: 127,861,934 (GRCm39)	D729G	probably damaging	Het
Tmem62	T	A	2: 120,807,943 (GRCm39)	I55N	probably damaging	Het
Tnfrsf21	A	T	17: 43,350,606 (GRCm39)	N257Y	possibly damaging	Het
Trappc3	T	C	4: 126,167,834 (GRCm39)	L131P	probably damaging	Het
Vmn2r25	A	T	6: 123,799,900 (GRCm39)	M814K	possibly damaging	Het
Vmn2r87	T	C	10: 130,308,226 (GRCm39)	I671V	probably benign	Het
Vwa8	A	T	14: 79,320,313 (GRCm39)	D1108V	probably benign	Het
Xrcc4	C	G	13: 90,139,198 (GRCm39)	A241P	possibly damaging	Het
Xylt1	T	A	7: 117,191,135 (GRCm39)	D310E	probably benign	Het
Zfp27	T	G	7: 29,594,444 (GRCm39)	H507P	possibly damaging	Het
Zfp341	C	T	2: 154,466,954 (GRCm39)	P108S	probably benign	Het
Zfp641	T	C	15: 98,190,816 (GRCm39)	N76S	probably benign	Het
Zfp936	T	C	7: 42,839,787 (GRCm39)	V418A	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
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'- TCCCAGAGCACGTTTAAGGTC -3'
(R):5'- AACTGTGCTTGATGTTCCGG -3'

Posted On

2017-07-14