Incidental Mutation 'R4227:Kcnn3'
| ID |
320073 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnn3
|
| Ensembl Gene |
ENSMUSG00000000794 |
| Gene Name |
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 |
| Synonyms |
SK3, small conductance calcium-activated potassium channel 3 |
| MMRRC Submission |
041047-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.586)
|
| Stock # |
R4227 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
89427471-89579801 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 89428482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Proline
at position 236
(H236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000811
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000811]
|
| AlphaFold |
P58391 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000811
AA Change: H236P
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: H236P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
154 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
224 |
N/A |
INTRINSIC |
|
Pfam:SK_channel
|
270 |
383 |
3.1e-51 |
PFAM |
|
Pfam:Ion_trans_2
|
462 |
548 |
2.2e-14 |
PFAM |
|
CaMBD
|
562 |
638 |
1.04e-49 |
SMART |
|
low complexity region
|
684 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0876 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an insertion of a tetracycline-regulated gene switch display no overt phenotype when expression is abolished by doxycycline treatment; in contrast, untreated homozygotes show abnormal respiratory responses to hypoxia, impaired parturition, and pregnancy-related premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,115,120 (GRCm39) |
T609A |
probably damaging |
Het |
| Agbl2 |
T |
G |
2: 90,631,797 (GRCm39) |
L385R |
probably damaging |
Het |
| Arfgef2 |
A |
T |
2: 166,709,244 (GRCm39) |
D1107V |
probably damaging |
Het |
| Arhgef5 |
C |
T |
6: 43,256,432 (GRCm39) |
A1180V |
probably damaging |
Het |
| B9d1 |
C |
G |
11: 61,403,483 (GRCm39) |
R160G |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,926,835 (GRCm39) |
|
probably null |
Het |
| Capn11 |
A |
G |
17: 45,953,392 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
G |
T |
7: 17,805,678 (GRCm39) |
M288I |
probably benign |
Het |
| Cfhr3 |
T |
A |
1: 139,536,046 (GRCm39) |
|
noncoding transcript |
Het |
| Copa |
A |
G |
1: 171,945,682 (GRCm39) |
|
probably benign |
Het |
| Cypt4 |
A |
G |
9: 24,536,788 (GRCm39) |
M93V |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,288,989 (GRCm39) |
T178I |
probably damaging |
Het |
| Gm15931 |
A |
G |
7: 4,277,793 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,654 (GRCm39) |
|
noncoding transcript |
Het |
| Gpsm1 |
T |
C |
2: 26,229,638 (GRCm39) |
|
probably benign |
Het |
| Grhl1 |
A |
G |
12: 24,661,850 (GRCm39) |
T510A |
probably benign |
Het |
| Kif21b |
T |
A |
1: 136,081,831 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
G |
T |
2: 25,656,123 (GRCm39) |
M59I |
probably benign |
Het |
| Mrps27 |
C |
G |
13: 99,547,848 (GRCm39) |
P253A |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,691 (GRCm39) |
D476V |
probably benign |
Het |
| Naca |
A |
T |
10: 127,877,530 (GRCm39) |
|
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,349,276 (GRCm39) |
S1351P |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,791,296 (GRCm39) |
|
probably benign |
Het |
| Or2a56 |
A |
G |
6: 42,932,648 (GRCm39) |
Y72C |
possibly damaging |
Het |
| Or4g17 |
A |
G |
2: 111,209,410 (GRCm39) |
K22E |
probably benign |
Het |
| Or52ab7 |
A |
T |
7: 102,978,026 (GRCm39) |
H111L |
probably damaging |
Het |
| Or5w18 |
T |
A |
2: 87,633,219 (GRCm39) |
I162N |
probably damaging |
Het |
| P3h2 |
G |
T |
16: 25,924,203 (GRCm39) |
D77E |
probably benign |
Het |
| Pcbp2 |
A |
G |
15: 102,387,066 (GRCm39) |
M87V |
probably benign |
Het |
| Plekhg6 |
A |
G |
6: 125,355,768 (GRCm39) |
L12P |
probably damaging |
Het |
| Plekhh2 |
A |
G |
17: 84,874,223 (GRCm39) |
T503A |
probably benign |
Het |
| Pnpla3 |
C |
A |
15: 84,063,391 (GRCm39) |
N256K |
probably benign |
Het |
| Polh |
A |
G |
17: 46,483,520 (GRCm39) |
S582P |
probably benign |
Het |
| Ptprb |
T |
C |
10: 116,138,130 (GRCm39) |
Y345H |
possibly damaging |
Het |
| Rasl11b |
T |
A |
5: 74,358,852 (GRCm39) |
I119N |
probably damaging |
Het |
| Rnaseh2a |
G |
A |
8: 85,686,702 (GRCm39) |
T149I |
possibly damaging |
Het |
| Serpina10 |
A |
G |
12: 103,594,674 (GRCm39) |
Y182H |
probably damaging |
Het |
| Serpina1d |
A |
G |
12: 103,733,740 (GRCm39) |
V188A |
probably benign |
Het |
| Setd1a |
C |
A |
7: 127,395,819 (GRCm39) |
|
probably benign |
Het |
| Slc17a8 |
T |
C |
10: 89,434,575 (GRCm39) |
N184S |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,249,458 (GRCm39) |
S110N |
unknown |
Het |
| Tas1r1 |
T |
C |
4: 152,112,729 (GRCm39) |
I775V |
probably damaging |
Het |
| Tktl2 |
A |
G |
8: 66,966,351 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Tmprss6 |
C |
T |
15: 78,330,899 (GRCm39) |
V43M |
probably damaging |
Het |
| Try5 |
A |
G |
6: 41,290,401 (GRCm39) |
Y28H |
possibly damaging |
Het |
| Urad |
A |
T |
5: 147,252,100 (GRCm39) |
F117L |
probably damaging |
Het |
| Vegfc |
A |
G |
8: 54,612,445 (GRCm39) |
Y156C |
probably damaging |
Het |
| Vmn2r45 |
A |
T |
7: 8,486,277 (GRCm39) |
V337E |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,369 (GRCm39) |
F696L |
probably damaging |
Het |
| Wnk2 |
C |
T |
13: 49,244,313 (GRCm39) |
D508N |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,228,282 (GRCm39) |
D455G |
probably damaging |
Het |
|
| Other mutations in Kcnn3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02263:Kcnn3
|
APN |
3 |
89,568,525 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02444:Kcnn3
|
APN |
3 |
89,559,359 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02500:Kcnn3
|
APN |
3 |
89,568,419 (GRCm39) |
splice site |
probably benign |
|
|
IGL02814:Kcnn3
|
APN |
3 |
89,428,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02821:Kcnn3
|
APN |
3 |
89,428,281 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02821:Kcnn3
|
APN |
3 |
89,570,029 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02852:Kcnn3
|
APN |
3 |
89,516,923 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02942:Kcnn3
|
APN |
3 |
89,559,383 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03118:Kcnn3
|
APN |
3 |
89,574,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Kcnn3
|
UTSW |
3 |
89,570,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Kcnn3
|
UTSW |
3 |
89,570,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Kcnn3
|
UTSW |
3 |
89,427,972 (GRCm39) |
small deletion |
probably benign |
|
|
R0370:Kcnn3
|
UTSW |
3 |
89,574,399 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0619:Kcnn3
|
UTSW |
3 |
89,559,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Kcnn3
|
UTSW |
3 |
89,472,259 (GRCm39) |
nonsense |
probably null |
|
|
R1255:Kcnn3
|
UTSW |
3 |
89,559,416 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1643:Kcnn3
|
UTSW |
3 |
89,427,804 (GRCm39) |
missense |
unknown |
|
|
R1733:Kcnn3
|
UTSW |
3 |
89,559,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1793:Kcnn3
|
UTSW |
3 |
89,516,712 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1827:Kcnn3
|
UTSW |
3 |
89,428,301 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1899:Kcnn3
|
UTSW |
3 |
89,427,762 (GRCm39) |
start gained |
probably benign |
|
|
R2055:Kcnn3
|
UTSW |
3 |
89,428,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2843:Kcnn3
|
UTSW |
3 |
89,427,972 (GRCm39) |
small deletion |
probably benign |
|
|
R2922:Kcnn3
|
UTSW |
3 |
89,428,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Kcnn3
|
UTSW |
3 |
89,568,495 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4604:Kcnn3
|
UTSW |
3 |
89,427,727 (GRCm39) |
start gained |
probably benign |
|
|
R4814:Kcnn3
|
UTSW |
3 |
89,570,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Kcnn3
|
UTSW |
3 |
89,574,596 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5175:Kcnn3
|
UTSW |
3 |
89,516,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5211:Kcnn3
|
UTSW |
3 |
89,428,538 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5438:Kcnn3
|
UTSW |
3 |
89,428,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Kcnn3
|
UTSW |
3 |
89,516,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6244:Kcnn3
|
UTSW |
3 |
89,552,830 (GRCm39) |
nonsense |
probably null |
|
|
R7391:Kcnn3
|
UTSW |
3 |
89,516,778 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7625:Kcnn3
|
UTSW |
3 |
89,516,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7834:Kcnn3
|
UTSW |
3 |
89,428,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8022:Kcnn3
|
UTSW |
3 |
89,517,010 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8110:Kcnn3
|
UTSW |
3 |
89,568,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8220:Kcnn3
|
UTSW |
3 |
89,568,548 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8787:Kcnn3
|
UTSW |
3 |
89,552,757 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9124:Kcnn3
|
UTSW |
3 |
89,428,536 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9256:Kcnn3
|
UTSW |
3 |
89,574,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9612:Kcnn3
|
UTSW |
3 |
89,516,703 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Kcnn3
|
UTSW |
3 |
89,574,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kcnn3
|
UTSW |
3 |
89,568,443 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Z1177:Kcnn3
|
UTSW |
3 |
89,428,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATACAGCGGTGGGGTCATG -3'
(R):5'- TCCCTACCTTTGAGTACAAACC -3'
Sequencing Primer
(F):5'- GTCATGAAGCCCCTCAGC -3'
(R):5'- GACAGTTCGGTCTCTATCACCATAAC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation