Mutagenetix > Incidental Mutation

Incidental Mutation 'R7234:Kcnrg'

562721

Institutional Source

Beutler Lab

Gene Symbol

Kcnrg

Ensembl Gene

ENSMUSG00000046168

Gene Name

potassium channel regulator

Synonyms

LOC328424, E030012H22Rik

MMRRC Submission

045304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61844906-61850275 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61845531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 190 (E190D)

Ref Sequence

ENSEMBL: ENSMUSP00000153429 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039562] [ENSMUST00000051184] [ENSMUST00000165015] [ENSMUST00000225582]

AlphaFold

Q2TUM3

Predicted Effect

probably benign
Transcript: ENSMUST00000039562

SMART Domains

Protein: ENSMUSP00000045009
Gene: ENSMUSG00000035235

Domain	Start	End	E-Value	Type
RING	10	57	1.31e-8	SMART
BBOX	89	131	5.55e-12	SMART
transmembrane domain	316	338	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051184

SMART Domains

Protein: ENSMUSP00000055327
Gene: ENSMUSG00000046168

Domain	Start	End	E-Value	Type
BTB	5	106	8.7e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165015

SMART Domains

Protein: ENSMUSP00000128509
Gene: ENSMUSG00000035235

Domain	Start	End	E-Value	Type
RING	10	57	1.31e-8	SMART
BBOX	89	131	5.55e-12	SMART
transmembrane domain	316	338	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000225582
AA Change: E190D

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which regulates the activity of voltage-gated potassium channels. This gene is on chromosome 13 and overlaps the gene for tripartite motif containing 13 on the same strand. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

Allele List at MGI

All alleles(1) : Gene trapped(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	T	A	19: 4,037,758 (GRCm39)	Y88*	probably null	Het
AI606181	T	A	19: 41,582,076 (GRCm39)	I82N	unknown	Het
Akap1	T	C	11: 88,729,808 (GRCm39)	Y638C	probably damaging	Het
Angpt1	T	C	15: 42,323,121 (GRCm39)	N383D	probably benign	Het
Ank	T	C	15: 27,571,742 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,882,750 (GRCm39)	Q209*	probably null	Het
Apol7c	A	T	15: 77,409,875 (GRCm39)	L357*	probably null	Het
Atxn2l	A	G	7: 126,092,373 (GRCm39)	L958P	probably damaging	Het
Cab39l	T	A	14: 59,734,395 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,295,024 (GRCm39)		probably null	Het
Cdkn3	T	C	14: 47,008,918 (GRCm39)	S204P	unknown	Het
Cds2	T	C	2: 132,146,400 (GRCm39)		probably null	Het
Cideb	C	T	14: 55,992,017 (GRCm39)	R179H	probably benign	Het
Cped1	A	G	6: 22,254,625 (GRCm39)	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,350,572 (GRCm39)	Y1547C		Het
Dicer1	A	G	12: 104,675,108 (GRCm39)	L718S	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dyrk2	T	C	10: 118,696,136 (GRCm39)	H374R	possibly damaging	Het
Edem2	A	T	2: 155,552,886 (GRCm39)	Y283N	probably benign	Het
Ero1b	A	T	13: 12,615,203 (GRCm39)	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,593,342 (GRCm39)	V292A	possibly damaging	Het
Farp2	A	G	1: 93,507,841 (GRCm39)	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,915,562 (GRCm39)	W617R	probably benign	Het
Fzd7	G	A	1: 59,522,443 (GRCm39)	V109M	probably damaging	Het
Gbp5	A	T	3: 142,226,898 (GRCm39)	H583L	probably benign	Het
Gm10306	T	A	4: 94,445,032 (GRCm39)	L84M	unknown	Het
Gsap	A	G	5: 21,391,433 (GRCm39)	T25A	probably benign	Het
Hectd4	G	T	5: 121,467,136 (GRCm39)	R2466L	possibly damaging	Het
Ide	C	A	19: 37,268,184 (GRCm39)	C557F		Het
Ift70a2	A	T	2: 75,806,540 (GRCm39)	Y657*	probably null	Het
Igdcc4	T	A	9: 65,042,750 (GRCm39)	C1234*	probably null	Het
Ints4	A	G	7: 97,179,507 (GRCm39)	I701V	probably benign	Het
Kalrn	T	A	16: 33,996,792 (GRCm39)	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,363,256 (GRCm39)	R2M	unknown	Het
Klk13	T	C	7: 43,370,841 (GRCm39)	L131P	probably damaging	Het
Lhcgr	A	T	17: 89,099,359 (GRCm39)	L14Q	possibly damaging	Het
Mdm4	A	T	1: 132,938,853 (GRCm39)	D80E	probably damaging	Het
Mib2	G	T	4: 155,742,350 (GRCm39)	Q311K	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mycbp2	A	T	14: 103,452,773 (GRCm39)	S1703T	probably damaging	Het
Naip6	A	T	13: 100,452,011 (GRCm39)	C200*	probably null	Het
Ncapd3	T	A	9: 26,961,655 (GRCm39)	I361N	probably damaging	Het
Nom1	A	G	5: 29,640,451 (GRCm39)	E259G	probably benign	Het
Or10j5	T	A	1: 172,784,673 (GRCm39)	F104I	probably damaging	Het
Or51v14	A	G	7: 103,261,089 (GRCm39)	L157P	probably damaging	Het
Plxna2	A	T	1: 194,488,698 (GRCm39)	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,789,462 (GRCm39)	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,455,851 (GRCm39)	C722*	probably null	Het
Ribc2	A	G	15: 85,019,733 (GRCm39)	K172E	probably benign	Het
Scamp5	C	A	9: 57,354,423 (GRCm39)	W77L	probably damaging	Het
Scin	T	A	12: 40,130,957 (GRCm39)	K319*	probably null	Het
Sec16a	G	T	2: 26,329,780 (GRCm39)	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,578,173 (GRCm39)	A403V	probably benign	Het
Slco6c1	A	G	1: 97,053,466 (GRCm39)	V145A	probably benign	Het
Sncaip	C	T	18: 53,048,416 (GRCm39)	H951Y	probably benign	Het
Spem1	A	G	11: 69,712,630 (GRCm39)		probably null	Het
Spen	C	T	4: 141,206,446 (GRCm39)	R727Q	unknown	Het
Thra	T	C	11: 98,654,544 (GRCm39)	S305P	probably damaging	Het
Tlr1	A	G	5: 65,084,067 (GRCm39)	V170A	probably damaging	Het
Tmem260	T	A	14: 48,742,786 (GRCm39)	C388*	probably null	Het
Tmem60	T	A	5: 21,091,619 (GRCm39)	V128D	possibly damaging	Het
Tpo	G	A	12: 30,142,685 (GRCm39)	P680S	probably benign	Het
Umodl1	A	G	17: 31,205,595 (GRCm39)	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,056,315 (GRCm39)	T608A	probably benign	Het
Xrra1	G	A	7: 99,563,456 (GRCm39)	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,162,961 (GRCm39)	V446I	unknown	Het

Other mutations in Kcnrg

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Kcnrg	APN	14	61,845,359 (GRCm39)	missense	probably damaging	1.00
IGL01311:Kcnrg	APN	14	61,849,274 (GRCm39)	missense	probably damaging	1.00
D4216:Kcnrg	UTSW	14	61,849,242 (GRCm39)	nonsense	probably null
R1081:Kcnrg	UTSW	14	61,845,163 (GRCm39)	missense	possibly damaging	0.87
R1346:Kcnrg	UTSW	14	61,849,144 (GRCm39)	missense	probably benign	0.31
R3147:Kcnrg	UTSW	14	61,845,140 (GRCm39)	missense	probably damaging	1.00
R4690:Kcnrg	UTSW	14	61,849,176 (GRCm39)	missense	probably damaging	1.00
R4820:Kcnrg	UTSW	14	61,845,386 (GRCm39)	missense	probably benign	0.39
R5068:Kcnrg	UTSW	14	61,845,266 (GRCm39)	missense	probably damaging	1.00
R5914:Kcnrg	UTSW	14	61,849,280 (GRCm39)	missense	probably benign
R8232:Kcnrg	UTSW	14	61,845,386 (GRCm39)	missense	probably benign	0.39
R8821:Kcnrg	UTSW	14	61,844,981 (GRCm39)	missense	possibly damaging	0.55
R9442:Kcnrg	UTSW	14	61,845,009 (GRCm39)	small deletion	probably benign
R9475:Kcnrg	UTSW	14	61,845,106 (GRCm39)	missense	possibly damaging	0.95
R9633:Kcnrg	UTSW	14	61,845,009 (GRCm39)	small deletion	probably benign
R9634:Kcnrg	UTSW	14	61,845,009 (GRCm39)	small deletion	probably benign
R9703:Kcnrg	UTSW	14	61,845,009 (GRCm39)	small deletion	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCTTGCAGCAAAACAATCGAG -3'
(R):5'- TCTAGTTTCCCTGGGCAGTG -3'

Sequencing Primer
(F):5'- TCGAGATGCTAAGTGGGAGGATTAC -3'
(R):5'- GGTTTATTACCTGTTCAACAGTACC -3'

Posted On

2019-06-26