Mutagenetix > Incidental Mutation

Incidental Mutation 'R1691:Kcnj12'

191811

Institutional Source

Beutler Lab

Gene Symbol

Kcnj12

Ensembl Gene

ENSMUSG00000042529

Gene Name

potassium inwardly-rectifying channel, subfamily J, member 12

Synonyms

Kir2.2, IRK2, MB-IRK2

MMRRC Submission

039724-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1691 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60913390-60961957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60961103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 467 (N467I)

Ref Sequence

ENSEMBL: ENSMUSP00000041696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041944] [ENSMUST00000089184] [ENSMUST00000108717]

AlphaFold

P52187

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041944
AA Change: N467I

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: N467I

Domain	Start	End	E-Value	Type
Pfam:IRK_N	104	148	1.3e-27	PFAM
Pfam:IRK	149	476	2.5e-159	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000089184
AA Change: N365I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: N365I

Domain	Start	End	E-Value	Type
Pfam:IRK_N	2	46	1.2e-31	PFAM
Pfam:IRK	47	381	5.4e-174	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108717
AA Change: N365I

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: N365I

Domain	Start	End	E-Value	Type
Pfam:IRK_N	2	46	1.2e-31	PFAM
Pfam:IRK	47	381	5.4e-174	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
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 an inwardly rectifying K+ channel which may be blocked by divalent cations. This protein is thought to be one of multiple inwardly rectifying channels which contribute to the cardiac inward rectifier current (IK1). The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are viable and fertile with no detected abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,148,814 (GRCm39)	S283P	probably damaging	Het
Adck2	T	A	6: 39,551,902 (GRCm39)	L223*	probably null	Het
Ank	T	C	15: 27,591,030 (GRCm39)	W390R	probably damaging	Het
Ano5	T	C	7: 51,240,327 (GRCm39)	Y752H	probably damaging	Het
Apcs	T	A	1: 172,722,160 (GRCm39)	D62V	probably damaging	Het
Atad5	A	G	11: 79,986,358 (GRCm39)	T482A	probably benign	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Ccdc13	A	T	9: 121,654,134 (GRCm39)		probably null	Het
Ccdc157	G	A	11: 4,099,030 (GRCm39)	P159S	probably benign	Het
Cdhr3	C	T	12: 33,132,246 (GRCm39)	V126M	probably damaging	Het
Cdr1	T	C	X: 60,227,780 (GRCm39)	D462G	possibly damaging	Het
Cisd1	A	G	10: 71,180,559 (GRCm39)	V9A	probably benign	Het
Col19a1	T	C	1: 24,576,022 (GRCm39)	R107G	unknown	Het
Col1a2	C	A	6: 4,536,038 (GRCm39)	H972Q	unknown	Het
Col3a1	T	A	1: 45,387,776 (GRCm39)		probably benign	Het
Dbnl	A	G	11: 5,747,174 (GRCm39)	S235G	probably null	Het
Dock4	T	A	12: 40,775,754 (GRCm39)	S566T	probably benign	Het
Efcab6	T	C	15: 83,817,407 (GRCm39)	D722G	probably benign	Het
Esyt1	T	C	10: 128,361,403 (GRCm39)	Q97R	probably benign	Het
Fat2	G	A	11: 55,202,678 (GRCm39)	T132I	probably damaging	Het
Fgd2	C	T	17: 29,597,918 (GRCm39)	Q618*	probably null	Het
Flnc	T	A	6: 29,441,213 (GRCm39)	V389E	probably benign	Het
Garnl3	A	T	2: 32,887,675 (GRCm39)	Y778*	probably null	Het
Gpaa1	A	T	15: 76,216,416 (GRCm39)	Y45F	probably damaging	Het
Grid1	A	T	14: 35,174,286 (GRCm39)	I643F	probably damaging	Het
Gsdmc2	T	C	15: 63,705,314 (GRCm39)	D133G	probably damaging	Het
Hp	T	C	8: 110,302,204 (GRCm39)	D248G	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna13	T	C	4: 88,562,291 (GRCm39)	D111G	probably benign	Het
Il9r	T	A	11: 32,141,829 (GRCm39)	Q309L	possibly damaging	Het
Insyn2a	C	T	7: 134,520,015 (GRCm39)	A172T	probably damaging	Het
Ints1	A	T	5: 139,754,687 (GRCm39)	D617E	probably damaging	Het
Kmt2e	T	A	5: 23,669,847 (GRCm39)	D111E	probably damaging	Het
Lama4	A	G	10: 38,956,559 (GRCm39)	K1161E	probably benign	Het
Lamc1	C	T	1: 153,122,995 (GRCm39)	D732N	probably benign	Het
Larp1	A	G	11: 57,938,874 (GRCm39)	T517A	probably benign	Het
Lrp12	A	G	15: 39,735,661 (GRCm39)	I757T	probably damaging	Het
Max	T	C	12: 77,000,046 (GRCm39)	D23G	possibly damaging	Het
Nars1	A	T	18: 64,649,485 (GRCm39)		probably null	Het
Nipsnap3a	G	A	4: 52,994,185 (GRCm39)	D91N	probably null	Het
Nphp3	A	G	9: 103,880,010 (GRCm39)	T11A	probably benign	Het
Nr2c2	C	A	6: 92,133,673 (GRCm39)	T226K	probably damaging	Het
Nrxn1	A	G	17: 90,469,717 (GRCm39)	I1288T	probably damaging	Het
Nt5c1b	C	T	12: 10,425,537 (GRCm39)	T360I	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or10a3b	A	G	7: 108,444,348 (GRCm39)	Y290H	possibly damaging	Het
Or13a21	A	T	7: 139,998,855 (GRCm39)	L277Q	probably damaging	Het
Or4e1	A	T	14: 52,701,288 (GRCm39)	H59Q	possibly damaging	Het
Or4k37	G	A	2: 111,159,198 (GRCm39)	V145I	probably benign	Het
Or6d14	A	G	6: 116,533,538 (GRCm39)	T51A	probably benign	Het
Or9i1b	C	T	19: 13,896,783 (GRCm39)	T133I	probably benign	Het
Pcsk1	A	G	13: 75,280,344 (GRCm39)	D723G	possibly damaging	Het
Phrf1	C	A	7: 140,841,787 (GRCm39)	Y715*	probably null	Het
Pigm	T	C	1: 172,204,354 (GRCm39)	V30A	probably benign	Het
Pkd1l2	A	T	8: 117,783,158 (GRCm39)	F721I	possibly damaging	Het
Pla2g15	A	G	8: 106,881,581 (GRCm39)	D70G	possibly damaging	Het
Prl7d1	A	T	13: 27,893,365 (GRCm39)	I182N	probably damaging	Het
Prss23	T	C	7: 89,159,922 (GRCm39)	K49R	probably benign	Het
Rps6	A	T	4: 86,775,046 (GRCm39)	D19E	probably benign	Het
Slco6d1	A	T	1: 98,435,292 (GRCm39)	H669L	probably benign	Het
Svil	G	T	18: 5,056,336 (GRCm39)	C490F	probably benign	Het
Tom1	T	C	8: 75,778,227 (GRCm39)	I103T	probably damaging	Het
Trim10	T	A	17: 37,187,791 (GRCm39)	Y336N	probably damaging	Het
Trim43c	G	T	9: 88,722,752 (GRCm39)	V133F	probably damaging	Het
Tvp23a	A	G	16: 10,246,551 (GRCm39)	L78P	possibly damaging	Het
Ugt2b38	T	A	5: 87,571,991 (GRCm39)	I14L	probably benign	Het
Unc5a	A	C	13: 55,150,737 (GRCm39)	M520L	probably damaging	Het
Vmn1r174	T	A	7: 23,453,337 (GRCm39)	M1K	probably null	Het
Vmn2r58	C	T	7: 41,486,913 (GRCm39)	G661R	possibly damaging	Het
Vps41	A	C	13: 19,025,413 (GRCm39)	D471A	probably damaging	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp462	T	A	4: 55,013,489 (GRCm39)	F1818L	possibly damaging	Het
Zp3	G	A	5: 136,009,135 (GRCm39)	E50K	possibly damaging	Het

Other mutations in Kcnj12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02340:Kcnj12	APN	11	60,960,319 (GRCm39)	missense	probably benign	0.00
R0377:Kcnj12	UTSW	11	60,960,222 (GRCm39)	missense	probably benign
R1358:Kcnj12	UTSW	11	60,960,713 (GRCm39)	missense	probably benign	0.08
R1835:Kcnj12	UTSW	11	60,960,383 (GRCm39)	missense	possibly damaging	0.86
R3808:Kcnj12	UTSW	11	60,961,103 (GRCm39)	missense	probably benign	0.01
R3809:Kcnj12	UTSW	11	60,961,103 (GRCm39)	missense	probably benign	0.01
R5330:Kcnj12	UTSW	11	60,961,012 (GRCm39)	missense	probably benign	0.06
R5331:Kcnj12	UTSW	11	60,961,012 (GRCm39)	missense	probably benign	0.06
R5777:Kcnj12	UTSW	11	60,961,277 (GRCm39)	missense	possibly damaging	0.88
R6065:Kcnj12	UTSW	11	60,960,703 (GRCm39)	missense	probably damaging	1.00
R6525:Kcnj12	UTSW	11	60,960,397 (GRCm39)	missense	probably damaging	1.00
R7715:Kcnj12	UTSW	11	60,957,778 (GRCm39)	critical splice donor site	probably null
R7969:Kcnj12	UTSW	11	60,960,430 (GRCm39)	nonsense	probably null
R8071:Kcnj12	UTSW	11	60,960,825 (GRCm39)	missense	probably damaging	1.00
R8517:Kcnj12	UTSW	11	60,960,199 (GRCm39)	missense	probably benign	0.00
R9351:Kcnj12	UTSW	11	60,960,673 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTACCTGGCTAACGAGATCCTG -3'
(R):5'- ATGCTACTGAGTCTGTGACCCGAG -3'

Sequencing Primer
(F):5'- AAGACCTACGAGGTGCCATCTA -3'
(R):5'- GTGCTGCATCTAAGCCAAG -3'

Posted On

2014-05-14