Mutagenetix > Incidental Mutation

Incidental Mutation 'D4216:Kcnrg'

229

Institutional Source

Beutler Lab

Gene Symbol

Kcnrg

Ensembl Gene

ENSMUSG00000046168

Gene Name

potassium channel regulator

Synonyms

LOC328424, E030012H22Rik

Accession Numbers

Essential gene?

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

Stock #

D4216 (G3) of strain honey

Quality Score

Status

Validated

Chromosome

Chromosomal Location

61844906-61850275 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to G at 61849242 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Tyrosine to Stop codon at position 234 (Y234*)

Ref Sequence

ENSEMBL: ENSMUSP00000055327 (fasta)

Gene Model

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

AlphaFold

Q2TUM3

Predicted Effect

probably null
Transcript: ENSMUST00000051184
AA Change: Y234*

SMART Domains

Protein: ENSMUSP00000055327
Gene: ENSMUSG00000046168
AA Change: Y234*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182325

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183066

Predicted Effect

probably benign
Transcript: ENSMUST00000225582

Meta Mutation Damage Score

0.9712

Coding Region Coverage

1x: 58.2%
3x: 22.7%

Validation Efficiency

68% (27/40)

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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fbxo33	A	T	12: 59,252,836 (GRCm39)	V221E	probably benign	Het
Frmpd2	T	A	14: 33,274,014 (GRCm39)	F1085L	probably damaging	Homo
Mrgpra6	T	A	7: 46,838,504 (GRCm39)	L231F	probably damaging	Het
Naca	T	C	10: 127,880,109 (GRCm39)	S1714P	possibly damaging	Homo
Rapgef6	T	C	11: 54,559,572 (GRCm39)		probably benign	Homo
Ric8b	T	C	10: 84,851,005 (GRCm39)	L546P	probably damaging	Het
Slc34a2	A	G	5: 53,222,839 (GRCm39)	T310A	probably benign	Homo
Ssc5d	C	T	7: 4,946,982 (GRCm39)	T1112I	possibly damaging	Homo
Stau1	A	G	2: 166,791,670 (GRCm39)	V489A	probably benign	Homo

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
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
R7234:Kcnrg	UTSW	14	61,845,531 (GRCm39)	missense	unknown
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

Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to G transversion at position 733 of the Kcnrg transcript using Genbank record NM_001039105. The mutated nucleotide introduces a premature stop codon at tyrosine 234 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The Kcnrg gene encodes a 264 amino acid protein soluble protein with characteristics suggesting it forms heterotetramers with voltage-gated potassium channels and inhibits their function. The protein contains a BTB/POZ domain at amino acids 5-74. This domain typically mediates homo- and heterodimerization (Uniprot Q2TUM3).

The premature stop introduced by the honey mutation in the Kcnrg gene truncates 31 amino acids from the C-terminus of the protein. The majority of the protein, including the BTB domain, is left intact suggesting the possibility that the honey allele may be hypomorphic.

Posted On

2010-06-23