Mutagenetix > Incidental Mutation

Incidental Mutation 'R5331:Kcnj12'

423258

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

042913-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60913390-60961957 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60961012 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 437 (K437E)

Ref Sequence

ENSEMBL: ENSMUSP00000041696 (fasta)

Gene Model

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

AlphaFold

P52187

Predicted Effect

probably benign
Transcript: ENSMUST00000041944
AA Change: K437E

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000041696
Gene: ENSMUSG00000042529
AA Change: K437E

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: K335E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000086588
Gene: ENSMUSG00000042529
AA Change: K335E

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: K335E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000104357
Gene: ENSMUSG00000042529
AA Change: K335E

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

Meta Mutation Damage Score

0.0629

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 96.0%

Validation Efficiency

100% (99/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,615,375 (GRCm39)	D83G	probably benign	Het
Ablim1	T	C	19: 57,143,681 (GRCm39)	T80A	probably damaging	Het
Adam6b	C	A	12: 113,454,200 (GRCm39)	P339H	possibly damaging	Het
Adgrb2	A	T	4: 129,915,995 (GRCm39)	H1505L	possibly damaging	Het
Ankrd46	G	A	15: 36,486,175 (GRCm39)	T26I	probably benign	Het
Bmpr1b	T	C	3: 141,562,176 (GRCm39)	N337S	probably damaging	Het
Ccdc47	C	T	11: 106,101,176 (GRCm39)	R162Q	probably benign	Het
Cct5	A	G	15: 31,594,448 (GRCm39)		probably benign	Het
Cdca2	T	C	14: 67,914,920 (GRCm39)	K780E	possibly damaging	Het
Cds1	T	C	5: 101,946,361 (GRCm39)	S187P	probably damaging	Het
Ces3a	G	A	8: 105,784,188 (GRCm39)	E416K	probably damaging	Het
Chd8	T	A	14: 52,439,571 (GRCm39)		probably benign	Het
Chuk	A	T	19: 44,067,394 (GRCm39)	V587E	probably damaging	Het
Clec16a	G	A	16: 10,549,543 (GRCm39)	C872Y	probably damaging	Het
Commd10	T	C	18: 47,093,497 (GRCm39)	V19A	probably damaging	Het
Ctsa	A	G	2: 164,676,229 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,051,573 (GRCm39)	I3074F	probably damaging	Het
Dydc1	T	C	14: 40,804,320 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Elp1	T	C	4: 56,800,001 (GRCm39)	T42A	probably benign	Het
Enpp3	T	A	10: 24,684,058 (GRCm39)	N227I	probably damaging	Het
Fam131c	A	T	4: 141,110,141 (GRCm39)	T180S	probably benign	Het
Fam193a	C	A	5: 34,622,915 (GRCm39)		probably null	Het
Fbxo41	T	C	6: 85,456,888 (GRCm39)	E427G	probably benign	Het
Gabrr2	A	G	4: 33,082,583 (GRCm39)	K236E	possibly damaging	Het
Gm10152	A	T	7: 144,317,283 (GRCm39)		noncoding transcript	Het
Gm18025	C	T	12: 34,340,574 (GRCm39)	C173Y	probably benign	Het
Gm5414	C	A	15: 101,533,099 (GRCm39)	V443F	probably damaging	Het
Gm7334	T	C	17: 51,006,160 (GRCm39)	S149P	possibly damaging	Het
Gpaa1	T	A	15: 76,216,511 (GRCm39)		probably benign	Het
Grik2	G	A	10: 49,008,867 (GRCm39)	T740M	probably damaging	Het
Gvin3	T	C	7: 106,197,958 (GRCm39)		noncoding transcript	Het
Hdac5	T	C	11: 102,088,180 (GRCm39)	Y930C	probably damaging	Het
Hepacam2	T	C	6: 3,483,377 (GRCm39)	T211A	probably benign	Het
Herc4	G	T	10: 63,143,578 (GRCm39)	E703*	probably null	Het
Hras	T	C	7: 140,772,853 (GRCm39)	M1V	probably null	Het
Il23r	T	G	6: 67,400,479 (GRCm39)	Q617P	probably damaging	Het
Insc	T	A	7: 114,444,273 (GRCm39)	M420K	probably damaging	Het
Ints10	A	T	8: 69,273,472 (GRCm39)		probably null	Het
Kank1	A	G	19: 25,388,693 (GRCm39)	T789A	probably damaging	Het
Kat6a	T	A	8: 23,430,000 (GRCm39)	L1785Q	unknown	Het
Knl1	T	A	2: 118,900,736 (GRCm39)	D812E	possibly damaging	Het
Luc7l	C	A	17: 26,494,707 (GRCm39)	C104*	probably null	Het
Lurap1	G	A	4: 116,001,601 (GRCm39)	L31F	probably damaging	Het
Mia2	A	G	12: 59,142,598 (GRCm39)	S5G	probably benign	Het
Mon1b	C	T	8: 114,362,899 (GRCm39)	T49I	probably null	Het
Mrgprb3	T	C	7: 48,292,682 (GRCm39)	T290A	possibly damaging	Het
Ms4a20	A	G	19: 11,069,222 (GRCm39)		probably benign	Het
Mxd3	T	C	13: 55,477,071 (GRCm39)		probably benign	Het
Negr1	A	T	3: 156,774,913 (GRCm39)	K210*	probably null	Het
Nek7	A	T	1: 138,426,312 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,581,834 (GRCm39)		probably benign	Het
Nrxn2	A	G	19: 6,540,111 (GRCm39)	T796A	probably damaging	Het
Nwd2	C	A	5: 63,963,859 (GRCm39)	L1148I	probably benign	Het
Or5d46	T	C	2: 88,170,332 (GRCm39)	L141P	probably damaging	Het
Osmr	G	C	15: 6,872,362 (GRCm39)	T244S	probably damaging	Het
Ovol3	T	C	7: 29,932,904 (GRCm39)	D177G	possibly damaging	Het
Pcdha4	G	A	18: 37,087,755 (GRCm39)	R646H	probably benign	Het
Pdilt	T	C	7: 119,114,147 (GRCm39)	E117G	possibly damaging	Het
Pecr	A	G	1: 72,314,005 (GRCm39)		probably benign	Het
Per3	G	T	4: 151,125,759 (GRCm39)	L187I	probably damaging	Het
Plcl2	G	A	17: 50,816,876 (GRCm39)	A81T	probably benign	Het
Polr2a	T	C	11: 69,638,101 (GRCm39)	N123D	probably benign	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Psma5	T	G	3: 108,175,386 (GRCm39)	V146G	possibly damaging	Het
Rgs11	A	T	17: 26,421,947 (GRCm39)	M1L	probably benign	Het
Rgsl1	T	C	1: 153,678,038 (GRCm39)	N130S	probably benign	Het
Rhbg	T	A	3: 88,152,775 (GRCm39)	T313S	probably benign	Het
Ripply2	T	A	9: 86,897,691 (GRCm39)		probably benign	Het
Scap	T	C	9: 110,210,701 (GRCm39)	V1011A	probably benign	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Scarf1	G	A	11: 75,406,406 (GRCm39)	G230D	probably damaging	Het
Slc17a8	A	G	10: 89,425,356 (GRCm39)		probably null	Het
Slc22a14	A	T	9: 119,059,662 (GRCm39)	L153Q	probably damaging	Het
Slc22a27	A	G	19: 7,856,820 (GRCm39)	I406T	probably benign	Het
Slc30a6	A	G	17: 74,730,190 (GRCm39)	D355G	probably benign	Het
Socs7	A	G	11: 97,268,852 (GRCm39)	D382G	possibly damaging	Het
Sphkap	A	G	1: 83,254,503 (GRCm39)	V1082A	probably benign	Het
Stox2	G	A	8: 47,866,662 (GRCm39)		probably benign	Het
Tacc2	T	C	7: 130,335,258 (GRCm39)	S524P	probably damaging	Het
Tbc1d9b	C	T	11: 50,037,140 (GRCm39)	A263V	probably benign	Het
Tekt5	C	T	16: 10,179,193 (GRCm39)	M391I	probably benign	Het
Tfap2b	A	T	1: 19,296,722 (GRCm39)	M222L	probably benign	Het
Themis2	T	C	4: 132,510,244 (GRCm39)	D652G	possibly damaging	Het
Tmem185b	A	G	1: 119,455,322 (GRCm39)		probably benign	Het
Trpv4	A	G	5: 114,773,604 (GRCm39)	Y253H	probably damaging	Het
Trpv5	G	A	6: 41,637,266 (GRCm39)	R358C	probably benign	Het
Ush2a	G	A	1: 188,460,578 (GRCm39)	G2613E	probably benign	Het
Usp25	C	A	16: 76,847,446 (GRCm39)	Q185K	probably damaging	Het
Xkr5	G	A	8: 18,983,484 (GRCm39)		probably benign	Het
Zfp541	C	T	7: 15,829,683 (GRCm39)	P1331S	probably 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
R1691:Kcnj12	UTSW	11	60,961,103 (GRCm39)	missense	possibly damaging	0.61
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
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'- CAGCCCACTGTTTGGCATTAG -3'
(R):5'- CAGTCTGTCAAAGTCATGCTCG -3'

Sequencing Primer
(F):5'- ATTAGCCGTCAGGACCTTGAGAC -3'
(R):5'- TCAAAGTCATGCTCGGGCTG -3'

Posted On

2016-08-04