Mutagenetix > Incidental Mutation

Incidental Mutation 'R1503:Kcnj1'

169455

Institutional Source

Beutler Lab

Gene Symbol

Kcnj1

Ensembl Gene

ENSMUSG00000041248

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 1

Synonyms

Kir1.1, ROMK, ROMK-2

MMRRC Submission

039553-MU

Accession Numbers

Essential gene?

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

Stock #

R1503 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32372493-32399197 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32396492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 51 (T51A)

Ref Sequence

ENSEMBL: ENSMUSP00000150540 (fasta)

Gene Model

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

AlphaFold

O88335

Predicted Effect

probably damaging
Transcript: ENSMUST00000047334
AA Change: T51A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: T51A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000172015
AA Change: T71A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: T71A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000213393
AA Change: T51A

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.0%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef6	T	C	X: 57,338,562	M5V	probably benign	Het
Atf7ip	G	T	6: 136,606,867	V1299L	probably damaging	Het
Atp12a	A	T	14: 56,373,424	N342Y	probably damaging	Het
Atp8b5	G	A	4: 43,344,430	G439D	probably damaging	Het
Bpifb2	G	A	2: 153,889,510	D269N	possibly damaging	Het
Btd	T	G	14: 31,667,655	C444W	probably damaging	Het
Cacna1a	A	G	8: 84,601,946	D1624G	probably benign	Het
Carmil3	A	C	14: 55,498,280	N563T	probably damaging	Het
Cars	T	C	7: 143,568,989	R538G	probably benign	Het
Catsperd	A	G	17: 56,654,525	K416E	possibly damaging	Het
Cc2d2a	A	T	5: 43,695,239	Y386F	probably damaging	Het
Ccpg1	A	G	9: 72,999,478	N66S	probably benign	Het
Cd48	T	A	1: 171,695,847	L86H	probably damaging	Het
Cdan1	A	T	2: 120,729,575	H369Q	probably damaging	Het
Chil4	T	C	3: 106,206,034	D189G	probably benign	Het
Cit	T	A	5: 115,873,900	Y189N	possibly damaging	Het
Cntn3	G	A	6: 102,464,565	Q7*	probably null	Het
Csn1s2a	A	T	5: 87,775,799	I5F	possibly damaging	Het
Ctnnd1	C	T	2: 84,605,179		probably null	Het
Dmxl2	A	T	9: 54,446,988	Y391*	probably null	Het
Dnah12	T	C	14: 26,773,692	S1426P	probably damaging	Het
Dnhd1	T	G	7: 105,693,660	S1404A	possibly damaging	Het
Drosha	T	A	15: 12,848,073	C484S	probably benign	Het
Dsg4	A	T	18: 20,449,679	I125F	probably damaging	Het
Egfr	T	A	11: 16,869,301	M277K	possibly damaging	Het
Eml5	G	T	12: 98,831,174	L1059I	probably damaging	Het
Erbb4	G	T	1: 68,346,546	H295N	probably benign	Het
Etl4	T	G	2: 20,743,874	V139G	possibly damaging	Het
Fam160a1	T	A	3: 85,672,477	Y807F	possibly damaging	Het
Frem3	A	T	8: 80,687,018	E1969D	probably damaging	Het
Gdf3	T	A	6: 122,606,337	D357V	probably damaging	Het
Gimap8	T	A	6: 48,647,529		probably null	Het
Gml2	C	A	15: 74,821,352	S68*	probably null	Het
Gphn	A	G	12: 78,504,629	I248V	possibly damaging	Het
Greb1	A	T	12: 16,724,819	Y192*	probably null	Het
Hmbs	A	C	9: 44,337,432	L215W	probably benign	Het
Iglon5	T	A	7: 43,479,025	T123S	probably benign	Het
Ints2	C	T	11: 86,226,781	R705H	probably damaging	Het
Ints8	A	T	4: 11,245,842	L212Q	probably damaging	Het
Itgad	A	G	7: 128,198,121	Y846C	probably benign	Het
Kif1bp	A	G	10: 62,559,408	V485A	probably damaging	Het
Kif9	A	T	9: 110,510,438	K449N	possibly damaging	Het
Klk11	G	A	7: 43,778,909	W241*	probably null	Het
Krt32	T	C	11: 100,084,110		probably null	Het
Loxl1	A	G	9: 58,293,640	F513S	probably damaging	Het
Mapk8ip3	A	T	17: 24,904,923	S571T	probably damaging	Het
Mcam	C	T	9: 44,141,291	R606C	probably damaging	Het
Mtss1	T	C	15: 58,951,672	N282S	probably damaging	Het
Myh13	T	A	11: 67,353,674	D1012E	probably benign	Het
Myo16	A	G	8: 10,502,817	T952A	probably benign	Het
Neb	T	C	2: 52,298,620	D874G	probably damaging	Het
Nek11	A	G	9: 105,163,204	Y553H	probably damaging	Het
Nr2c2	T	A	6: 92,105,331	V9D	probably benign	Het
Nxf1	T	A	19: 8,762,436	F51L	probably benign	Het
Olfr1260	T	C	2: 89,978,528	V250A	probably damaging	Het
Olfr1347	T	C	7: 6,488,179	I232V	probably damaging	Het
Olfr1350	A	G	7: 6,570,471	N160S	probably damaging	Het
Olfr170	A	G	16: 19,606,312	S119P	probably benign	Het
Olfr344	A	T	2: 36,568,873	I92F	probably damaging	Het
Olfr397	T	G	11: 73,964,568		probably null	Het
Olfr750	A	G	14: 51,070,734	S220P	probably damaging	Het
Pcdhb8	A	T	18: 37,356,519	N76Y	probably damaging	Het
Pdzrn4	T	A	15: 92,399,804	F217I	probably damaging	Het
Ppp1r16a	T	A	15: 76,694,399	H434Q	probably benign	Het
Prpf19	T	A	19: 10,901,022	F291I	possibly damaging	Het
R3hdm2	G	T	10: 127,471,826	E319*	probably null	Het
Sel1l3	A	G	5: 53,137,929	Y777H	probably damaging	Het
Serpinb5	G	A	1: 106,870,289	A3T	possibly damaging	Het
Skp2	C	A	15: 9,127,911	V88F	probably damaging	Het
Slc25a16	T	C	10: 62,928,376	Y71H	probably damaging	Het
Slc6a6	T	A	6: 91,740,992	I304N	probably damaging	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Sox17	C	A	1: 4,491,928	G222C	probably damaging	Het
Trmu	T	A	15: 85,895,019	V289E	possibly damaging	Het
Vdac2	A	G	14: 21,837,877	E96G	probably damaging	Het
Wdhd1	A	T	14: 47,247,400	D885E	probably benign	Het
Zfp646	A	G	7: 127,880,136	N495S	probably damaging	Het
Zfp663	T	C	2: 165,352,653	T549A	probably damaging	Het
Zfp935	G	A	13: 62,455,137	A83V	possibly damaging	Het

Other mutations in Kcnj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00941:Kcnj1	APN	9	32396498	missense	probably benign	0.01
IGL02958:Kcnj1	APN	9	32396555	missense	probably damaging	1.00
IGL03285:Kcnj1	APN	9	32396861	missense	possibly damaging	0.67
R1179:Kcnj1	UTSW	9	32396766	missense	probably damaging	0.96
R1918:Kcnj1	UTSW	9	32396738	missense	probably benign	0.00
R4439:Kcnj1	UTSW	9	32394118	intron	probably benign
R4659:Kcnj1	UTSW	9	32394148	missense	probably benign
R4661:Kcnj1	UTSW	9	32396622	missense	probably benign	0.14
R4917:Kcnj1	UTSW	9	32396760	missense	probably damaging	0.99
R4918:Kcnj1	UTSW	9	32396760	missense	probably damaging	0.99
R5385:Kcnj1	UTSW	9	32396723	missense	probably damaging	1.00
R6017:Kcnj1	UTSW	9	32394104	intron	probably benign
R6036:Kcnj1	UTSW	9	32397125	missense	probably benign	0.15
R6036:Kcnj1	UTSW	9	32397125	missense	probably benign	0.15
R6117:Kcnj1	UTSW	9	32397182	missense	probably damaging	1.00
R6245:Kcnj1	UTSW	9	32396867	missense	probably damaging	1.00
R6316:Kcnj1	UTSW	9	32397336	missense	probably damaging	0.96
R6585:Kcnj1	UTSW	9	32397261	missense	probably benign
R6988:Kcnj1	UTSW	9	32396585	missense	probably benign	0.17
R7116:Kcnj1	UTSW	9	32396981	missense	possibly damaging	0.91
R7393:Kcnj1	UTSW	9	32397018	missense	probably damaging	1.00
R7870:Kcnj1	UTSW	9	32396585	missense	probably benign	0.17
R8072:Kcnj1	UTSW	9	32397297	missense	probably damaging	1.00
R8391:Kcnj1	UTSW	9	32396732	missense	probably damaging	1.00
R9264:Kcnj1	UTSW	9	32396358	missense	probably benign	0.03
R9418:Kcnj1	UTSW	9	32396907	missense	probably damaging	1.00
Z1177:Kcnj1	UTSW	9	32397359	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCAGATCAGGGCACTGACAGAAAG -3'
(R):5'- TGGCTAATATGGCACCACACATGAAAG -3'

Sequencing Primer
(F):5'- CACTGACAGAAAGGATGTTCAAAC -3'
(R):5'- GAATCCGTAACCTATGGTCACTTG -3'

Posted On

2014-04-13