Incidental Mutation 'R6604:Kcnj6'
| ID |
525565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj6
|
| Ensembl Gene |
ENSMUSG00000043301 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 6 |
| Synonyms |
GIRK2, Kir3.2, KCNJ7 |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6604 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
94549495-94798560 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 94563504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 313
(E313D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000156014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095873]
[ENSMUST00000099508]
[ENSMUST00000232562]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095873
AA Change: E331D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093558
Gene: ENSMUSG00000043301
AA Change: E331D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
59 |
397 |
9.3e-166 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099508
AA Change: E331D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097108
Gene: ENSMUSG00000043301
AA Change: E331D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
59 |
382 |
8.5e-146 |
PFAM |
|
low complexity region
|
396 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232562
AA Change: E313D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]
PHENOTYPE: A spontaneous mutation exhibits small size, ataxia, hypotonia, high periweaning mortality, Purkinje cell defects, and male sterility. Homozygotes for a targeted null mutation exhibit increased susceptibility to spontaneous and drug-induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(3) : Targeted, knock-out(1) Gene trapped(1) Spontaneous(1)
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,810,110 (GRCm39) |
N270T |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably damaging |
Het |
|
| Other mutations in Kcnj6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Kcnj6
|
APN |
16 |
94,633,314 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01433:Kcnj6
|
APN |
16 |
94,633,814 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL01603:Kcnj6
|
APN |
16 |
94,634,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02212:Kcnj6
|
APN |
16 |
94,633,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Kcnj6
|
APN |
16 |
94,633,376 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03351:Kcnj6
|
APN |
16 |
94,633,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Seizure
|
UTSW |
16 |
94,633,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8477:Kcnj6
|
UTSW |
16 |
94,633,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Kcnj6
|
UTSW |
16 |
94,633,778 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0070:Kcnj6
|
UTSW |
16 |
94,742,056 (GRCm39) |
missense |
probably benign |
|
|
R1558:Kcnj6
|
UTSW |
16 |
94,563,358 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1676:Kcnj6
|
UTSW |
16 |
94,633,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2435:Kcnj6
|
UTSW |
16 |
94,563,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3700:Kcnj6
|
UTSW |
16 |
94,633,865 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3800:Kcnj6
|
UTSW |
16 |
94,633,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4012:Kcnj6
|
UTSW |
16 |
94,625,877 (GRCm39) |
splice site |
probably null |
|
|
R4899:Kcnj6
|
UTSW |
16 |
94,633,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Kcnj6
|
UTSW |
16 |
94,633,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5359:Kcnj6
|
UTSW |
16 |
94,633,312 (GRCm39) |
nonsense |
probably null |
|
|
R5560:Kcnj6
|
UTSW |
16 |
94,633,824 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5583:Kcnj6
|
UTSW |
16 |
94,634,060 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6057:Kcnj6
|
UTSW |
16 |
94,633,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6330:Kcnj6
|
UTSW |
16 |
94,563,460 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6582:Kcnj6
|
UTSW |
16 |
94,633,685 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6802:Kcnj6
|
UTSW |
16 |
94,563,436 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6866:Kcnj6
|
UTSW |
16 |
94,563,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7304:Kcnj6
|
UTSW |
16 |
94,742,042 (GRCm39) |
missense |
probably benign |
|
|
R7337:Kcnj6
|
UTSW |
16 |
94,634,073 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7396:Kcnj6
|
UTSW |
16 |
94,563,306 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8543:Kcnj6
|
UTSW |
16 |
94,563,250 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9614:Kcnj6
|
UTSW |
16 |
94,633,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAATTCTGCATGTTGGTTCAG -3'
(R):5'- CTGCAATGTGAAAGACGGC -3'
Sequencing Primer
(F):5'- CAATTCTGCATGTTGGTTCAGTTTGC -3'
(R):5'- CTGCAATGTGAAAGACGGCTCTATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation