Incidental Mutation 'R6585:Kcnj1'
| ID |
524348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnj1
|
| Ensembl Gene |
ENSMUSG00000041248 |
| Gene Name |
potassium inwardly-rectifying channel, subfamily J, member 1 |
| Synonyms |
ROMK-2, Kir1.1, ROMK |
| MMRRC Submission |
044709-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6585 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
32283789-32310493 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32308557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 307
(V307A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047334]
[ENSMUST00000172015]
[ENSMUST00000213393]
|
| AlphaFold |
O88335 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047334
AA Change: V307A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046793
Gene: ENSMUSG00000041248
AA Change: V307A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
24 |
361 |
1.4e-155 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172015
AA Change: V327A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131625
Gene: ENSMUSG00000041248
AA Change: V327A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:IRK
|
44 |
373 |
7.6e-144 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213393
AA Change: V307A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (30/31) |
| 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. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most homozygotes for a null mutation die before weaning with impaired electrolyte, acid-base, and fluid-volume homeostasis, reduced NaCl absorption in the thick ascending limb, and abnormal tubuloglomerular feedback. A colony of mutants with extended suvival serves as a model for Bartter's syndrome. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
C |
T |
5: 109,885,534 (GRCm39) |
C108Y |
probably damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,250 (GRCm39) |
D598E |
probably benign |
Het |
| Agr2 |
G |
A |
12: 36,045,625 (GRCm39) |
R37Q |
probably benign |
Het |
| Ascc3 |
A |
G |
10: 50,718,273 (GRCm39) |
K1989E |
probably benign |
Het |
| Chd1l |
A |
G |
3: 97,505,088 (GRCm39) |
F160L |
probably damaging |
Het |
| Ciita |
T |
A |
16: 10,329,609 (GRCm39) |
V628E |
probably benign |
Het |
| Defa38 |
A |
G |
8: 21,585,248 (GRCm39) |
C65R |
possibly damaging |
Het |
| Dis3l2 |
T |
A |
1: 86,673,216 (GRCm39) |
I69N |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Elp2 |
T |
C |
18: 24,758,606 (GRCm39) |
L503S |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,813,404 (GRCm39) |
Q2313L |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,179,989 (GRCm39) |
I157N |
probably damaging |
Het |
| H2bc18 |
A |
T |
3: 96,177,413 (GRCm39) |
T116S |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,552,314 (GRCm39) |
|
probably null |
Het |
| Lrp6 |
A |
T |
6: 134,484,521 (GRCm39) |
Y367* |
probably null |
Het |
| Ms4a14 |
T |
A |
19: 11,281,009 (GRCm39) |
Q516H |
unknown |
Het |
| Nprl3 |
C |
T |
11: 32,184,812 (GRCm39) |
R399Q |
probably benign |
Het |
| Or13c3 |
A |
T |
4: 52,856,192 (GRCm39) |
M107K |
possibly damaging |
Het |
| Or5ae1 |
A |
T |
7: 84,565,670 (GRCm39) |
I228F |
probably damaging |
Het |
| Park7 |
G |
T |
4: 150,989,721 (GRCm39) |
Q80K |
probably benign |
Het |
| Pramel15 |
C |
A |
4: 144,103,600 (GRCm39) |
L175F |
possibly damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,529,415 (GRCm39) |
P62S |
probably benign |
Het |
| Ptgs2 |
T |
C |
1: 149,979,738 (GRCm39) |
V281A |
possibly damaging |
Het |
| Rprd1a |
T |
C |
18: 24,639,720 (GRCm39) |
|
probably null |
Het |
| Speer4f2 |
A |
G |
5: 17,579,420 (GRCm39) |
E73G |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,006,251 (GRCm39) |
W138R |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,354,124 (GRCm39) |
E838G |
probably damaging |
Het |
| Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
| Usp19 |
G |
T |
9: 108,376,926 (GRCm39) |
L1165F |
probably damaging |
Het |
| Zfp27 |
G |
A |
7: 29,595,818 (GRCm39) |
T49I |
possibly damaging |
Het |
|
| Other mutations in Kcnj1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00941:Kcnj1
|
APN |
9 |
32,307,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02958:Kcnj1
|
APN |
9 |
32,307,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03285:Kcnj1
|
APN |
9 |
32,308,157 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1179:Kcnj1
|
UTSW |
9 |
32,308,062 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1503:Kcnj1
|
UTSW |
9 |
32,307,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1918:Kcnj1
|
UTSW |
9 |
32,308,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4439:Kcnj1
|
UTSW |
9 |
32,305,414 (GRCm39) |
intron |
probably benign |
|
|
R4659:Kcnj1
|
UTSW |
9 |
32,305,444 (GRCm39) |
missense |
probably benign |
|
|
R4661:Kcnj1
|
UTSW |
9 |
32,307,918 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4917:Kcnj1
|
UTSW |
9 |
32,308,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4918:Kcnj1
|
UTSW |
9 |
32,308,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5385:Kcnj1
|
UTSW |
9 |
32,308,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6017:Kcnj1
|
UTSW |
9 |
32,305,400 (GRCm39) |
intron |
probably benign |
|
|
R6036:Kcnj1
|
UTSW |
9 |
32,308,421 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6036:Kcnj1
|
UTSW |
9 |
32,308,421 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6117:Kcnj1
|
UTSW |
9 |
32,308,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6245:Kcnj1
|
UTSW |
9 |
32,308,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6316:Kcnj1
|
UTSW |
9 |
32,308,632 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6988:Kcnj1
|
UTSW |
9 |
32,307,881 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7116:Kcnj1
|
UTSW |
9 |
32,308,277 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7393:Kcnj1
|
UTSW |
9 |
32,308,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Kcnj1
|
UTSW |
9 |
32,307,881 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8072:Kcnj1
|
UTSW |
9 |
32,308,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8391:Kcnj1
|
UTSW |
9 |
32,308,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Kcnj1
|
UTSW |
9 |
32,307,654 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9418:Kcnj1
|
UTSW |
9 |
32,308,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnj1
|
UTSW |
9 |
32,308,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTTTGTAGTTGATGCTGGC -3'
(R):5'- GCCACTGCTACATTTGGGTG -3'
Sequencing Primer
(F):5'- GTTGATGCTGGCAATGAAAATTTG -3'
(R):5'- GTCTGTTTCATCAACTTCTGACAAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation