Incidental Mutation 'R8232:Kcnrg'
| ID |
637193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnrg
|
| Ensembl Gene |
ENSMUSG00000046168 |
| Gene Name |
potassium channel regulator |
| Synonyms |
LOC328424, E030012H22Rik |
| MMRRC Submission |
067664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.249)
|
| Stock # |
R8232 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
61844906-61850275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61845386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 142
(M142K)
|
| 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
AA Change: M142K
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000055327
Gene: ENSMUSG00000046168
AA Change: M142K
| 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 |
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
AA Change: M142K
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.4%
- 20x: 98.5%
|
| Validation Efficiency |
100% (34/34) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
T |
4: 49,450,817 (GRCm39) |
M98K |
probably damaging |
Het |
| Actn3 |
A |
T |
19: 4,921,683 (GRCm39) |
W166R |
probably damaging |
Het |
| Adamts16 |
C |
A |
13: 70,941,217 (GRCm39) |
C390F |
probably damaging |
Het |
| Arhgap32 |
A |
T |
9: 32,168,198 (GRCm39) |
D727V |
probably damaging |
Het |
| Bcr |
A |
G |
10: 75,001,883 (GRCm39) |
Y929C |
probably damaging |
Het |
| Bmp1 |
T |
A |
14: 70,757,329 (GRCm39) |
Y50F |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,841 (GRCm39) |
R171C |
unknown |
Het |
| Ccnd2 |
A |
G |
6: 127,127,549 (GRCm39) |
L63P |
probably damaging |
Het |
| Clip1 |
G |
C |
5: 123,785,981 (GRCm39) |
D234E |
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,746,149 (GRCm39) |
I3988N |
possibly damaging |
Het |
| Frmpd2 |
T |
G |
14: 33,261,724 (GRCm39) |
I843S |
probably damaging |
Het |
| Gcgr |
A |
G |
11: 120,427,328 (GRCm39) |
Y146C |
probably damaging |
Het |
| Gm5930 |
T |
G |
14: 44,573,181 (GRCm39) |
K158T |
probably damaging |
Het |
| Gnl1 |
T |
A |
17: 36,298,487 (GRCm39) |
C410* |
probably null |
Het |
| Gtf2h1 |
T |
A |
7: 46,451,103 (GRCm39) |
I4K |
probably benign |
Het |
| Il12b |
A |
G |
11: 44,299,401 (GRCm39) |
S157G |
possibly damaging |
Het |
| Jcad |
G |
T |
18: 4,674,862 (GRCm39) |
A875S |
probably benign |
Het |
| Krtap4-6 |
A |
C |
11: 99,556,568 (GRCm39) |
L53R |
unknown |
Het |
| Myo10 |
G |
A |
15: 25,804,400 (GRCm39) |
G1565D |
possibly damaging |
Het |
| Nf1 |
A |
G |
11: 79,469,157 (GRCm39) |
S806G |
probably damaging |
Het |
| Nlrp5 |
G |
T |
7: 23,116,770 (GRCm39) |
V165L |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,795 (GRCm39) |
I134T |
possibly damaging |
Het |
| Or4a72 |
A |
T |
2: 89,405,938 (GRCm39) |
V44E |
noncoding transcript |
Het |
| Or51ai2 |
G |
A |
7: 103,586,980 (GRCm39) |
R131Q |
possibly damaging |
Het |
| Or5b107 |
A |
G |
19: 13,142,683 (GRCm39) |
M102V |
probably benign |
Het |
| Or5p68 |
A |
T |
7: 107,945,495 (GRCm39) |
M231K |
probably damaging |
Het |
| Or6c202 |
C |
A |
10: 128,996,097 (GRCm39) |
C252F |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,498,309 (GRCm39) |
F167I |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,665,722 (GRCm39) |
L740S |
probably damaging |
Het |
| Tmem183a |
T |
A |
1: 134,277,918 (GRCm39) |
D282V |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,636,442 (GRCm39) |
V255E |
possibly damaging |
Het |
| Vmn1r229 |
T |
A |
17: 21,035,309 (GRCm39) |
C185S |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,514,076 (GRCm39) |
M189K |
probably damaging |
Het |
| Vps50 |
T |
G |
6: 3,600,139 (GRCm39) |
V866G |
probably damaging |
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 |
|
|
R7234:Kcnrg
|
UTSW |
14 |
61,845,531 (GRCm39) |
missense |
unknown |
|
|
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'- GAGAGGCTCTTTTCTATGAACTTG -3'
(R):5'- GCCAAGAGGAGTTTTAGTTAGGC -3'
Sequencing Primer
(F):5'- ATGAACTTGATTCTCTTGTTGATCTC -3'
(R):5'- AAGAGGAGTTTTAGTTAGGCATAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation