Incidental Mutation 'R5335:Kcnip2'
| ID |
423504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kcnip2
|
| Ensembl Gene |
ENSMUSG00000025221 |
| Gene Name |
Kv channel-interacting protein 2 |
| Synonyms |
KChIP2 |
| MMRRC Submission |
042916-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R5335 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
45780785-45804948 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45782685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 133
(A133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026247]
[ENSMUST00000079431]
[ENSMUST00000086993]
[ENSMUST00000159245]
[ENSMUST00000159446]
[ENSMUST00000162661]
[ENSMUST00000161886]
[ENSMUST00000162528]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026247
AA Change: A201S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221
AA Change: A201S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
126 |
154 |
1e-1 |
SMART |
|
EFh
|
162 |
190 |
1.88e-6 |
SMART |
|
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079431
AA Change: A201S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221
AA Change: A201S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
126 |
154 |
1e-1 |
SMART |
|
EFh
|
162 |
190 |
1.88e-6 |
SMART |
|
EFh
|
210 |
238 |
4.6e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086993
AA Change: A174S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221
AA Change: A174S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
99 |
127 |
1e-1 |
SMART |
|
EFh
|
135 |
163 |
1.88e-6 |
SMART |
|
EFh
|
183 |
211 |
4.6e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000111906
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159210
AA Change: A18S
|
| SMART Domains |
Protein: ENSMUSP00000124763
Gene: ENSMUSG00000025221
AA Change: A18S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:EF-hand_1
|
28 |
56 |
3.7e-8 |
PFAM |
|
Pfam:EF-hand_5
|
29 |
53 |
3.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159245
AA Change: A121S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221
AA Change: A121S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
82 |
110 |
1.88e-6 |
SMART |
|
EFh
|
130 |
158 |
4.6e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159446
|
| SMART Domains |
Protein: ENSMUSP00000125499
Gene: ENSMUSG00000025221
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
62 |
N/A |
INTRINSIC |
|
PDB:1S1E|A
|
63 |
125 |
2e-32 |
PDB |
|
SCOP:d1rec__
|
76 |
125 |
7e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162661
AA Change: A133S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221
AA Change: A133S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
94 |
122 |
3.4e-4 |
SMART |
|
EFh
|
142 |
170 |
1.63e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161886
AA Change: A169S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221
AA Change: A169S
| Domain | Start | End | E-Value | Type |
|---|
|
EFh
|
94 |
122 |
1e-1 |
SMART |
|
EFh
|
130 |
158 |
1.88e-6 |
SMART |
|
EFh
|
178 |
206 |
4.6e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162528
AA Change: A219S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221
AA Change: A219S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
64 |
75 |
N/A |
INTRINSIC |
|
EFh
|
144 |
172 |
1e-1 |
SMART |
|
EFh
|
180 |
208 |
1.88e-6 |
SMART |
|
EFh
|
228 |
256 |
4.6e-1 |
SMART |
|
| Meta Mutation Damage Score |
0.0737 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (62/63) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the voltage-gated potassium channel-interacting protein (KCNIP) family. KCNIP family members are small calcium binding proteins that commonly exhibit unique variation at their N-termini, and which modulate A-type potassium channels. This gene is predominantly expressed in the adult heart, and to a lesser extent in the brain. Disruption of this gene is associated with susceptibility to cardiac arrhythmias and lack of transient outward potassium current in ventricular myocytes, and downregulated expression is associated with cardiac hypertrophy. The encoded protein has also been implicated as a repressor of immune response. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene are susceptible to induced cardiac arrhythmias but are otherwise normal. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010003K11Rik |
A |
G |
19: 4,548,292 (GRCm39) |
W86R |
probably damaging |
Het |
| Ankrd6 |
T |
C |
4: 32,818,651 (GRCm39) |
E225G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,785 (GRCm39) |
|
probably null |
Het |
| Bcas2 |
A |
G |
3: 103,082,951 (GRCm39) |
I146V |
probably damaging |
Het |
| C2cd6 |
T |
A |
1: 59,043,393 (GRCm39) |
|
noncoding transcript |
Het |
| Cachd1 |
G |
A |
4: 100,825,282 (GRCm39) |
V579I |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 113,888,889 (GRCm39) |
T311A |
unknown |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,060 (GRCm39) |
L134F |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,589 (GRCm39) |
H369R |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,335,089 (GRCm39) |
V171A |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,601,695 (GRCm39) |
N3718D |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 118,003,340 (GRCm39) |
I541V |
probably damaging |
Het |
| Eif3i |
T |
C |
4: 129,488,979 (GRCm39) |
D86G |
probably benign |
Het |
| Epc1 |
C |
T |
18: 6,490,689 (GRCm39) |
|
probably benign |
Het |
| Epc2 |
A |
G |
2: 49,403,242 (GRCm39) |
N110S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,659,246 (GRCm39) |
L831Q |
probably damaging |
Het |
| Esd |
G |
T |
14: 74,979,553 (GRCm39) |
R119I |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,465,277 (GRCm39) |
K96E |
possibly damaging |
Het |
| Fcgbp |
T |
C |
7: 27,789,159 (GRCm39) |
V575A |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gemin6 |
T |
C |
17: 80,533,184 (GRCm39) |
V39A |
probably damaging |
Het |
| Glmp |
G |
T |
3: 88,233,962 (GRCm39) |
|
probably benign |
Het |
| Gm10306 |
C |
A |
4: 94,445,044 (GRCm39) |
|
probably benign |
Het |
| Gm4846 |
A |
T |
1: 166,325,022 (GRCm39) |
L23* |
probably null |
Het |
| Grik1 |
CGG |
CGGG |
16: 87,720,082 (GRCm39) |
|
probably null |
Het |
| Ifi203 |
T |
C |
1: 173,754,485 (GRCm39) |
T749A |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,039,300 (GRCm39) |
I76F |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,739,077 (GRCm39) |
|
probably null |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mtcl3 |
A |
T |
10: 29,023,102 (GRCm39) |
I150L |
probably benign |
Het |
| Myh7 |
A |
G |
14: 55,224,020 (GRCm39) |
|
probably benign |
Het |
| Odad2 |
A |
T |
18: 7,294,566 (GRCm39) |
Y16N |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,621 (GRCm39) |
D113G |
possibly damaging |
Het |
| Or1j17 |
A |
T |
2: 36,578,106 (GRCm39) |
I31F |
probably benign |
Het |
| Or1x2 |
A |
C |
11: 50,918,161 (GRCm39) |
N111H |
probably benign |
Het |
| Or2ag18 |
A |
C |
7: 106,404,941 (GRCm39) |
S243A |
probably damaging |
Het |
| Or2b6 |
A |
C |
13: 21,822,949 (GRCm39) |
V248G |
probably damaging |
Het |
| Or51f1d |
A |
C |
7: 102,700,742 (GRCm39) |
D79A |
probably damaging |
Het |
| Or52s19 |
A |
C |
7: 103,007,729 (GRCm39) |
L224R |
probably damaging |
Het |
| Or5j1 |
T |
G |
2: 86,879,509 (GRCm39) |
K24Q |
probably damaging |
Het |
| Pcdhb1 |
G |
T |
18: 37,400,308 (GRCm39) |
C753F |
probably benign |
Het |
| Phip |
T |
C |
9: 82,782,809 (GRCm39) |
S879G |
possibly damaging |
Het |
| Pi4k2b |
A |
G |
5: 52,899,098 (GRCm39) |
D13G |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,502,259 (GRCm39) |
I68F |
probably damaging |
Het |
| Rnf168 |
C |
T |
16: 32,117,402 (GRCm39) |
T321I |
possibly damaging |
Het |
| Sp110 |
C |
G |
1: 85,516,839 (GRCm39) |
E219D |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,621,282 (GRCm39) |
|
probably benign |
Het |
| Sry |
A |
T |
Y: 2,663,647 (GRCm39) |
H4Q |
probably benign |
Het |
| Taf2 |
G |
A |
15: 54,909,136 (GRCm39) |
A703V |
probably benign |
Het |
| Taf5l |
A |
G |
8: 124,730,390 (GRCm39) |
F65L |
probably damaging |
Het |
| Tcp10b |
T |
C |
17: 13,281,954 (GRCm39) |
|
probably null |
Het |
| Timm44 |
A |
T |
8: 4,316,814 (GRCm39) |
I273N |
probably damaging |
Het |
| Tspan4 |
A |
G |
7: 141,069,528 (GRCm39) |
T43A |
probably damaging |
Het |
| Ube2r2 |
T |
C |
4: 41,190,846 (GRCm39) |
|
probably benign |
Het |
| Urgcp |
T |
C |
11: 5,667,754 (GRCm39) |
T195A |
possibly damaging |
Het |
| Vmn1r197 |
T |
C |
13: 22,512,361 (GRCm39) |
I94T |
probably damaging |
Het |
| Vmn2r15 |
A |
T |
5: 109,434,673 (GRCm39) |
I677K |
probably damaging |
Het |
| Zfp853 |
T |
A |
5: 143,274,318 (GRCm39) |
H434L |
unknown |
Het |
|
| Other mutations in Kcnip2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01833:Kcnip2
|
APN |
19 |
45,782,746 (GRCm39) |
splice site |
probably null |
|
|
IGL01927:Kcnip2
|
APN |
19 |
45,784,044 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02597:Kcnip2
|
APN |
19 |
45,784,712 (GRCm39) |
intron |
probably benign |
|
|
IGL03069:Kcnip2
|
APN |
19 |
45,784,710 (GRCm39) |
intron |
probably benign |
|
|
IGL03200:Kcnip2
|
APN |
19 |
45,782,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Kcnip2
|
UTSW |
19 |
45,782,514 (GRCm39) |
splice site |
probably benign |
|
|
R1205:Kcnip2
|
UTSW |
19 |
45,783,422 (GRCm39) |
missense |
probably null |
1.00 |
|
R1677:Kcnip2
|
UTSW |
19 |
45,782,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Kcnip2
|
UTSW |
19 |
45,782,122 (GRCm39) |
missense |
probably null |
0.99 |
|
R4175:Kcnip2
|
UTSW |
19 |
45,800,654 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4393:Kcnip2
|
UTSW |
19 |
45,800,669 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7782:Kcnip2
|
UTSW |
19 |
45,785,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7938:Kcnip2
|
UTSW |
19 |
45,782,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8197:Kcnip2
|
UTSW |
19 |
45,782,730 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8537:Kcnip2
|
UTSW |
19 |
45,804,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8775:Kcnip2
|
UTSW |
19 |
45,782,149 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8775-TAIL:Kcnip2
|
UTSW |
19 |
45,782,149 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8888:Kcnip2
|
UTSW |
19 |
45,785,100 (GRCm39) |
intron |
probably benign |
|
|
R8895:Kcnip2
|
UTSW |
19 |
45,785,100 (GRCm39) |
intron |
probably benign |
|
|
R9009:Kcnip2
|
UTSW |
19 |
45,800,634 (GRCm39) |
intron |
probably benign |
|
|
R9031:Kcnip2
|
UTSW |
19 |
45,783,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTCAATGGTCACCACGC -3'
(R):5'- AAAGGGATCTGATATCAGGTGTC -3'
Sequencing Primer
(F):5'- TTCTGTAAGAAGGTAGTCAGGC -3'
(R):5'- TCTGATATCAGGTGTCAACAGTAAGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation