Incidental Mutation 'R4470:Kcnj3'
| ID |
329356 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj3
|
| Ensembl Gene |
ENSMUSG00000026824 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 3 |
| Synonyms |
GIRK1, Kcnf3, Kir3.1 |
| MMRRC Submission |
041727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4470 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
55325982-55488157 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55327877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 222
(H222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067101]
[ENSMUST00000112632]
[ENSMUST00000112633]
|
| AlphaFold |
P63250 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067101
AA Change: H222L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063329
Gene: ENSMUSG00000026824
AA Change: H222L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
47 |
385 |
3.6e-164 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112632
AA Change: H222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108251
Gene: ENSMUSG00000026824
AA Change: H222L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
47 |
235 |
4e-99 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000112633
AA Change: H222L
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000108252
Gene: ENSMUSG00000026824
AA Change: H222L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:IRK
|
47 |
369 |
1.1e-141 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180810
|
| Meta Mutation Damage Score |
0.8920 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation display slightly increased resting heart rates, and blunted responses to both indirect vagal activation and direct adenosine A1 receptor activation (intended to activate the muscarinic-gated atrial potassium channel). [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,595,404 (GRCm39) |
V258G |
possibly damaging |
Het |
| Adcy1 |
A |
G |
11: 7,094,804 (GRCm39) |
T577A |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,274,695 (GRCm39) |
N728S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,473,175 (GRCm39) |
S943P |
probably damaging |
Het |
| Ankdd1a |
T |
C |
9: 65,410,791 (GRCm39) |
D398G |
probably damaging |
Het |
| Asah1 |
A |
G |
8: 41,796,761 (GRCm39) |
|
probably null |
Het |
| Atp13a1 |
T |
C |
8: 70,251,329 (GRCm39) |
S495P |
probably damaging |
Het |
| Camta2 |
T |
C |
11: 70,571,766 (GRCm39) |
D510G |
probably damaging |
Het |
| Cdh8 |
T |
A |
8: 100,143,321 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
C |
T |
17: 46,849,262 (GRCm39) |
A628T |
probably benign |
Het |
| Ddx19a |
A |
G |
8: 111,703,111 (GRCm39) |
V442A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Dnah7c |
T |
A |
1: 46,787,795 (GRCm39) |
S3283T |
possibly damaging |
Het |
| Fmo9 |
T |
A |
1: 166,507,799 (GRCm39) |
I19F |
probably damaging |
Het |
| Gmeb2 |
A |
T |
2: 180,906,938 (GRCm39) |
|
probably null |
Het |
| H2-K2 |
G |
A |
17: 34,219,035 (GRCm39) |
R23C |
probably benign |
Het |
| Icam5 |
T |
A |
9: 20,946,802 (GRCm39) |
C443* |
probably null |
Het |
| Il16 |
A |
G |
7: 83,300,046 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
A |
10: 38,956,492 (GRCm39) |
Y1138* |
probably null |
Het |
| Lpin3 |
A |
G |
2: 160,737,354 (GRCm39) |
T134A |
probably benign |
Het |
| Man1b1 |
C |
G |
2: 25,222,867 (GRCm39) |
|
probably benign |
Het |
| Msc |
G |
C |
1: 14,825,902 (GRCm39) |
P24R |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,732,522 (GRCm39) |
K601E |
probably benign |
Het |
| Myzap |
A |
G |
9: 71,499,563 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
T |
5: 125,179,705 (GRCm39) |
|
probably null |
Het |
| Nrxn3 |
T |
C |
12: 90,171,515 (GRCm39) |
S276P |
probably damaging |
Het |
| Or1j16 |
T |
C |
2: 36,530,233 (GRCm39) |
F61L |
probably damaging |
Het |
| Or4c114 |
T |
C |
2: 88,905,382 (GRCm39) |
N18D |
probably benign |
Het |
| Or4d6 |
T |
C |
19: 12,086,547 (GRCm39) |
|
probably null |
Het |
| Or51b4 |
G |
A |
7: 103,530,956 (GRCm39) |
P165S |
probably benign |
Het |
| Or6c202 |
G |
A |
10: 128,996,383 (GRCm39) |
L157F |
probably benign |
Het |
| Or8c13 |
A |
G |
9: 38,091,666 (GRCm39) |
M151T |
probably damaging |
Het |
| Or8d1 |
T |
C |
9: 38,766,927 (GRCm39) |
S190P |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 143,997,915 (GRCm39) |
K443E |
possibly damaging |
Het |
| Rock2 |
C |
T |
12: 17,021,276 (GRCm39) |
Q1019* |
probably null |
Het |
| Rps18-ps3 |
T |
A |
8: 107,989,762 (GRCm39) |
|
noncoding transcript |
Het |
| Sis |
T |
C |
3: 72,835,492 (GRCm39) |
|
probably null |
Het |
| Slc22a21 |
T |
A |
11: 53,846,839 (GRCm39) |
I345F |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,790,491 (GRCm39) |
M523T |
possibly damaging |
Het |
| Taf1c |
T |
C |
8: 120,326,361 (GRCm39) |
K526R |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,922,276 (GRCm39) |
D337G |
possibly damaging |
Het |
| Tbx4 |
A |
G |
11: 85,802,948 (GRCm39) |
I275V |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tmem9 |
A |
G |
1: 135,955,234 (GRCm39) |
T123A |
probably benign |
Het |
| Trim69 |
A |
G |
2: 122,009,080 (GRCm39) |
Y380C |
probably damaging |
Het |
| Vldlr |
G |
T |
19: 27,212,219 (GRCm39) |
V78L |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,275 (GRCm39) |
N274K |
probably benign |
Het |
| Vmn2r104 |
G |
T |
17: 20,262,503 (GRCm39) |
S209Y |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,682,990 (GRCm39) |
N738I |
probably damaging |
Het |
| Wnt3 |
A |
G |
11: 103,703,450 (GRCm39) |
D311G |
probably damaging |
Het |
| Yme1l1 |
T |
C |
2: 23,076,344 (GRCm39) |
|
probably null |
Het |
| Zcchc14 |
C |
T |
8: 122,378,498 (GRCm39) |
|
probably benign |
Het |
| Zfp148 |
T |
C |
16: 33,316,602 (GRCm39) |
Y383H |
probably damaging |
Het |
| Zfp41 |
A |
G |
15: 75,490,368 (GRCm39) |
R107G |
probably damaging |
Het |
|
| Other mutations in Kcnj3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00673:Kcnj3
|
APN |
2 |
55,485,284 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01889:Kcnj3
|
APN |
2 |
55,327,216 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01988:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL01989:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02004:Kcnj3
|
APN |
2 |
55,327,243 (GRCm39) |
missense |
probably benign |
0.43 |
|
IGL02035:Kcnj3
|
APN |
2 |
55,327,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0268:Kcnj3
|
UTSW |
2 |
55,484,971 (GRCm39) |
nonsense |
probably null |
|
|
R0565:Kcnj3
|
UTSW |
2 |
55,485,276 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0853:Kcnj3
|
UTSW |
2 |
55,327,235 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1318:Kcnj3
|
UTSW |
2 |
55,327,750 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1592:Kcnj3
|
UTSW |
2 |
55,327,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Kcnj3
|
UTSW |
2 |
55,327,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1899:Kcnj3
|
UTSW |
2 |
55,327,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Kcnj3
|
UTSW |
2 |
55,327,343 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2891:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2892:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2893:Kcnj3
|
UTSW |
2 |
55,337,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3901:Kcnj3
|
UTSW |
2 |
55,327,360 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4603:Kcnj3
|
UTSW |
2 |
55,336,991 (GRCm39) |
nonsense |
probably null |
|
|
R4694:Kcnj3
|
UTSW |
2 |
55,484,918 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4945:Kcnj3
|
UTSW |
2 |
55,327,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5144:Kcnj3
|
UTSW |
2 |
55,337,059 (GRCm39) |
splice site |
probably null |
|
|
R5332:Kcnj3
|
UTSW |
2 |
55,327,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5959:Kcnj3
|
UTSW |
2 |
55,327,330 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6352:Kcnj3
|
UTSW |
2 |
55,327,561 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7042:Kcnj3
|
UTSW |
2 |
55,484,877 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7475:Kcnj3
|
UTSW |
2 |
55,327,338 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7626:Kcnj3
|
UTSW |
2 |
55,484,833 (GRCm39) |
nonsense |
probably null |
|
|
R7771:Kcnj3
|
UTSW |
2 |
55,336,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Kcnj3
|
UTSW |
2 |
55,327,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8558:Kcnj3
|
UTSW |
2 |
55,336,875 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8986:Kcnj3
|
UTSW |
2 |
55,485,039 (GRCm39) |
missense |
probably benign |
|
|
R9653:Kcnj3
|
UTSW |
2 |
55,484,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACAGATAAGTGCCCCGAG -3'
(R):5'- AGAAGTTTACCTGTGGTGGAAG -3'
Sequencing Primer
(F):5'- CGAGGGCATCATCCTCTTC -3'
(R):5'- GGTTCCCAAGGGGATTAA -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation