Mutagenetix > Incidental Mutation

Incidental Mutation 'R1918:Kcnj1'

212730

Institutional Source

Beutler Lab

Gene Symbol

Kcnj1

Ensembl Gene

ENSMUSG00000041248

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 1

Synonyms

ROMK-2, Kir1.1, ROMK

MMRRC Submission

039936-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R1918 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32283789-32310493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32308034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 153 (Q153K)

Ref Sequence

ENSEMBL: ENSMUSP00000131625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047334] [ENSMUST00000172015] [ENSMUST00000213393]

AlphaFold

O88335

Predicted Effect

probably benign
Transcript: ENSMUST00000047334
AA Change: Q133K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: Q133K

Domain	Start	End	E-Value	Type
Pfam:IRK	24	361	1.4e-155	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172015
AA Change: Q153K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: Q153K

Domain	Start	End	E-Value	Type
Pfam:IRK	44	373	7.6e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213393
AA Change: Q133K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

97% (113/116)

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. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 116 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	T	G	7: 29,273,514 (GRCm39)		noncoding transcript	Het
A2m	T	C	6: 121,621,895 (GRCm39)	S314P	probably benign	Het
Abcc9	T	A	6: 142,643,408 (GRCm39)	I47F	probably damaging	Het
Abcd2	C	T	15: 91,075,684 (GRCm39)	R43H	probably benign	Het
Adgre5	A	G	8: 84,455,738 (GRCm39)	V190A	probably damaging	Het
Aen	C	T	7: 78,555,777 (GRCm39)	H242Y	possibly damaging	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap10	T	C	8: 77,985,708 (GRCm39)	I698V	probably benign	Het
Arpp21	C	T	9: 111,948,246 (GRCm39)		probably benign	Het
Atp10a	T	C	7: 58,477,683 (GRCm39)	I1294T	possibly damaging	Het
Atp13a2	T	C	4: 140,723,682 (GRCm39)	Y337H	possibly damaging	Het
Bsn	C	T	9: 107,984,772 (GRCm39)	G3094D	unknown	Het
Cadm2	G	A	16: 66,544,270 (GRCm39)		probably benign	Het
Cadps	T	C	14: 12,546,372 (GRCm38)	M495V	probably damaging	Het
Cass4	A	G	2: 172,269,259 (GRCm39)	H447R	possibly damaging	Het
Ccdc124	C	A	8: 71,321,588 (GRCm39)	R108L	probably benign	Het
Ccdc141	C	T	2: 76,845,047 (GRCm39)	R1340Q	probably benign	Het
Ccdc148	T	G	2: 58,872,911 (GRCm39)	R299S	probably damaging	Het
Cd300lg	A	G	11: 101,944,936 (GRCm39)	E382G	probably damaging	Het
Cd36	A	T	5: 18,002,034 (GRCm39)	C322*	probably null	Het
Celsr2	C	T	3: 108,305,966 (GRCm39)	G2046D	probably benign	Het
Clasrp	C	T	7: 19,319,188 (GRCm39)	W492*	probably null	Het
Cmtr1	T	C	17: 29,897,983 (GRCm39)	V154A	possibly damaging	Het
Ctnnb1	C	T	9: 120,780,100 (GRCm39)	P128S	possibly damaging	Het
Cyp11a1	A	G	9: 57,934,040 (GRCm39)	I496V	probably damaging	Het
Disp2	G	A	2: 118,622,408 (GRCm39)	V1047I	probably benign	Het
Dync2i1	A	C	12: 116,196,221 (GRCm39)	S509A	probably damaging	Het
Eps8l2	T	C	7: 140,941,637 (GRCm39)	V636A	probably damaging	Het
Fars2	T	C	13: 36,388,529 (GRCm39)	L6P	probably damaging	Het
Fem1al	A	G	11: 29,774,039 (GRCm39)	S473P	probably benign	Het
Fnip1	C	T	11: 54,371,510 (GRCm39)	T177I	probably damaging	Het
Fut8	G	T	12: 77,378,992 (GRCm39)	R31L	probably benign	Het
G6pd2	T	C	5: 61,967,664 (GRCm39)	F480L	probably benign	Het
Glipr1l2	T	A	10: 111,928,550 (GRCm39)	C148*	probably null	Het
Gm10142	G	A	10: 77,551,821 (GRCm39)	V61M	probably benign	Het
Gm5134	T	A	10: 75,812,180 (GRCm39)	M145K	possibly damaging	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpc2	T	C	5: 138,276,641 (GRCm39)	T162A	probably benign	Het
Gtf2h4	G	A	17: 35,981,090 (GRCm39)	L246F	possibly damaging	Het
Hal	C	T	10: 93,332,469 (GRCm39)	P294S	probably damaging	Het
Hectd3	C	T	4: 116,857,540 (GRCm39)	A573V	possibly damaging	Het
Hephl1	T	A	9: 14,988,114 (GRCm39)	I665F	probably benign	Het
Herc1	T	C	9: 66,383,408 (GRCm39)		probably null	Het
Hif1an	A	G	19: 44,559,551 (GRCm39)		probably null	Het
Iho1	T	A	9: 108,290,184 (GRCm39)	H140L	probably benign	Het
Il12rb1	T	A	8: 71,266,324 (GRCm39)	M223K	probably benign	Het
Ilf3	C	T	9: 21,305,010 (GRCm39)	T201M	probably damaging	Het
Inpp5f	T	C	7: 128,265,693 (GRCm39)		probably benign	Het
Jcad	T	C	18: 4,674,292 (GRCm39)	Y685H	probably damaging	Het
Kctd18	A	C	1: 57,998,379 (GRCm39)	H73Q	probably damaging	Het
Klhl36	T	A	8: 120,603,463 (GRCm39)	W573R	probably damaging	Het
Ldc1	A	T	4: 130,105,186 (GRCm39)	V328D	probably benign	Het
Lepr	A	G	4: 101,630,033 (GRCm39)	T583A	probably benign	Het
Ltbp4	G	A	7: 27,036,994 (GRCm39)		probably benign	Het
Mapt	A	T	11: 104,189,325 (GRCm39)	E114D	probably benign	Het
Mib1	T	A	18: 10,740,972 (GRCm39)		probably null	Het
Mthfd1	G	T	12: 76,361,750 (GRCm39)	A119S	probably damaging	Het
Mylk4	A	T	13: 32,908,836 (GRCm39)	D90E	probably benign	Het
Nceh1	T	G	3: 27,237,324 (GRCm39)	L33R	probably damaging	Het
Nfat5	T	C	8: 108,092,868 (GRCm39)	I91T	probably damaging	Het
Nxn	A	G	11: 76,152,498 (GRCm39)		probably benign	Het
Oasl1	G	A	5: 115,061,528 (GRCm39)	A20T	possibly damaging	Het
Or2m12	A	T	16: 19,105,052 (GRCm39)	M147K	probably benign	Het
Or4c127	T	C	2: 89,832,918 (GRCm39)	F56S	probably benign	Het
Or4d6	A	G	19: 12,086,871 (GRCm39)	V13A	probably benign	Het
Or5b97	A	G	19: 12,878,215 (GRCm39)	*310Q	probably null	Het
Or5t18	C	T	2: 86,637,171 (GRCm39)	M57I	probably damaging	Het
Or6c2	T	A	10: 129,362,918 (GRCm39)	V274D	probably damaging	Het
Pepd	T	C	7: 34,671,101 (GRCm39)	V215A	probably benign	Het
Pfkl	A	T	10: 77,837,260 (GRCm39)	N104K	probably damaging	Het
Phf24	T	C	4: 42,938,165 (GRCm39)		probably benign	Het
Pink1	T	C	4: 138,041,331 (GRCm39)	N530S	probably benign	Het
Pou3f2	T	C	4: 22,487,119 (GRCm39)	D338G	probably damaging	Het
Ppp1r13b	A	G	12: 111,801,244 (GRCm39)	V480A	probably damaging	Het
Ptgfrn	A	T	3: 100,963,623 (GRCm39)	I663N	probably benign	Het
Rad54b	A	C	4: 11,601,693 (GRCm39)	N416T	probably damaging	Het
Rasef	A	G	4: 73,662,351 (GRCm39)	S200P	possibly damaging	Het
Rbm33	T	A	5: 28,592,915 (GRCm39)	I605N	probably damaging	Het
Rps19bp1	T	C	15: 80,148,280 (GRCm39)	T31A	probably benign	Het
Ryr2	T	A	13: 11,571,584 (GRCm39)	T4885S	possibly damaging	Het
Serpinb6b	A	G	13: 33,162,223 (GRCm39)	I222V	probably benign	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Skor2	T	C	18: 76,947,051 (GRCm39)	S258P	unknown	Het
Slc22a29	C	T	19: 8,195,123 (GRCm39)		probably null	Het
Slc8a3	A	T	12: 81,361,618 (GRCm39)	F400L	probably damaging	Het
Slc9a8	T	C	2: 167,266,134 (GRCm39)	I37T	possibly damaging	Het
Smchd1	A	G	17: 71,714,232 (GRCm39)	I877T	possibly damaging	Het
Spag5	A	G	11: 78,195,002 (GRCm39)	N103S	probably benign	Het
Sptbn1	A	T	11: 30,092,414 (GRCm39)	F450L	probably damaging	Het
Strn4	T	A	7: 16,567,846 (GRCm39)	Y507N	probably damaging	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Syt17	G	T	7: 118,033,208 (GRCm39)	L267I	possibly damaging	Het
Tcstv4	T	C	13: 120,769,758 (GRCm39)	L26P	probably damaging	Het
Tdo2	T	A	3: 81,866,247 (GRCm39)	R339W	probably damaging	Het
Tex55	A	G	16: 38,648,450 (GRCm39)	Y220H	possibly damaging	Het
Timd5	A	G	11: 46,419,358 (GRCm39)	D58G	possibly damaging	Het
Ttn	A	G	2: 76,571,745 (GRCm39)	S26383P	probably damaging	Het
Ttn	G	T	2: 76,638,868 (GRCm39)	T13938K	probably damaging	Het
Tulp2	A	G	7: 45,167,365 (GRCm39)	N188D	possibly damaging	Het
Ube3c	C	T	5: 29,792,315 (GRCm39)	R37C	probably damaging	Het
Uggt2	G	T	14: 119,245,467 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,203,017 (GRCm39)	V457M	probably damaging	Het
Usp17la	C	T	7: 104,509,953 (GRCm39)	T186I	probably benign	Het
Vmn1r226	T	C	17: 20,907,842 (GRCm39)	S25P	probably damaging	Het
Vmn1r235	T	A	17: 21,482,659 (GRCm39)	I328K	possibly damaging	Het
Vmn2r50	A	T	7: 9,781,610 (GRCm39)	S378R	probably benign	Het
Vwa2	C	T	19: 56,897,366 (GRCm39)	T557I	probably benign	Het
Vxn	T	C	1: 9,671,852 (GRCm39)	F15S	probably damaging	Het
Yes1	G	T	5: 32,842,079 (GRCm39)	Q534H	probably benign	Het
Zbtb25	A	T	12: 76,396,075 (GRCm39)	Y382*	probably null	Het
Zc3h3	G	A	15: 75,648,967 (GRCm39)	P722S	probably damaging	Het
Zfp36l2	T	C	17: 84,494,164 (GRCm39)	T158A	probably damaging	Het
Zfp536	T	C	7: 37,179,624 (GRCm39)	T994A	probably damaging	Het
Zfp592	C	T	7: 80,687,168 (GRCm39)	Q824*	probably null	Het
Zfp629	C	A	7: 127,211,172 (GRCm39)	K212N	probably damaging	Het
Zfp930	C	A	8: 69,681,357 (GRCm39)	Q350K	probably benign	Het

Other mutations in Kcnj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Kcnj1	APN	9	32,307,794 (GRCm39)	missense	probably benign	0.01
IGL02958:Kcnj1	APN	9	32,307,851 (GRCm39)	missense	probably damaging	1.00
IGL03285:Kcnj1	APN	9	32,308,157 (GRCm39)	missense	possibly damaging	0.67
R1179:Kcnj1	UTSW	9	32,308,062 (GRCm39)	missense	probably damaging	0.96
R1503:Kcnj1	UTSW	9	32,307,788 (GRCm39)	missense	probably damaging	0.98
R4439:Kcnj1	UTSW	9	32,305,414 (GRCm39)	intron	probably benign
R4659:Kcnj1	UTSW	9	32,305,444 (GRCm39)	missense	probably benign
R4661:Kcnj1	UTSW	9	32,307,918 (GRCm39)	missense	probably benign	0.14
R4917:Kcnj1	UTSW	9	32,308,056 (GRCm39)	missense	probably damaging	0.99
R4918:Kcnj1	UTSW	9	32,308,056 (GRCm39)	missense	probably damaging	0.99
R5385:Kcnj1	UTSW	9	32,308,019 (GRCm39)	missense	probably damaging	1.00
R6017:Kcnj1	UTSW	9	32,305,400 (GRCm39)	intron	probably benign
R6036:Kcnj1	UTSW	9	32,308,421 (GRCm39)	missense	probably benign	0.15
R6036:Kcnj1	UTSW	9	32,308,421 (GRCm39)	missense	probably benign	0.15
R6117:Kcnj1	UTSW	9	32,308,478 (GRCm39)	missense	probably damaging	1.00
R6245:Kcnj1	UTSW	9	32,308,163 (GRCm39)	missense	probably damaging	1.00
R6316:Kcnj1	UTSW	9	32,308,632 (GRCm39)	missense	probably damaging	0.96
R6585:Kcnj1	UTSW	9	32,308,557 (GRCm39)	missense	probably benign
R6988:Kcnj1	UTSW	9	32,307,881 (GRCm39)	missense	probably benign	0.17
R7116:Kcnj1	UTSW	9	32,308,277 (GRCm39)	missense	possibly damaging	0.91
R7393:Kcnj1	UTSW	9	32,308,314 (GRCm39)	missense	probably damaging	1.00
R7870:Kcnj1	UTSW	9	32,307,881 (GRCm39)	missense	probably benign	0.17
R8072:Kcnj1	UTSW	9	32,308,593 (GRCm39)	missense	probably damaging	1.00
R8391:Kcnj1	UTSW	9	32,308,028 (GRCm39)	missense	probably damaging	1.00
R9264:Kcnj1	UTSW	9	32,307,654 (GRCm39)	missense	probably benign	0.03
R9418:Kcnj1	UTSW	9	32,308,203 (GRCm39)	missense	probably damaging	1.00
Z1177:Kcnj1	UTSW	9	32,308,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGCCTTCTTGGGGAGTTG -3'
(R):5'- GCTTTTCCTAAGATTTGCTACTCGG -3'

Sequencing Primer
(F):5'- AGTTGGTTTCTCTTTGGTCTCC -3'
(R):5'- GATGAGGAGACAGAGCTTCCCC -3'

Posted On

2014-07-14