Incidental Mutation 'IGL02597:Kcnip2'
ID299920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnip2
Ensembl Gene ENSMUSG00000025221
Gene NameKv channel-interacting protein 2
SynonymsKChIP2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL02597
Quality Score
Status
Chromosome19
Chromosomal Location45791839-45816061 bp(-) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 45796273 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026247] [ENSMUST00000079431] [ENSMUST00000086993] [ENSMUST00000159245] [ENSMUST00000159446] [ENSMUST00000161886] [ENSMUST00000162528] [ENSMUST00000162661]
Predicted Effect probably benign
Transcript: ENSMUST00000026247
SMART Domains Protein: ENSMUSP00000026247
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000078400
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000084215
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000159210
SMART Domains Protein: ENSMUSP00000124763
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000124346
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000161886
SMART Domains Protein: ENSMUSP00000124482
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125142
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000162661
SMART Domains Protein: ENSMUSP00000124821
Gene: ENSMUSG00000025221

DomainStartEndE-ValueType
EFh 94 122 3.4e-4 SMART
EFh 142 170 1.63e-1 SMART
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc1 T C 2: 128,623,931 K1648E probably benign Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Atp7a A T X: 106,069,888 N34I probably benign Het
Btbd11 A G 10: 85,633,801 Y862C probably damaging Het
Casq2 A G 3: 102,126,637 Y232C probably damaging Het
Cdan1 A T 2: 120,725,239 N738K probably benign Het
Cdh24 A G 14: 54,633,515 V132A possibly damaging Het
Chd5 C A 4: 152,371,712 T946K probably damaging Het
Clip4 T C 17: 71,849,970 probably benign Het
Copz2 T C 11: 96,857,599 probably benign Het
Cyp2c39 C A 19: 39,560,887 S283* probably null Het
Dlec1 A T 9: 119,134,536 S973C probably damaging Het
Far1 A T 7: 113,551,256 T264S probably benign Het
Iqgap1 A G 7: 80,723,885 L1452P probably damaging Het
Irx5 A C 8: 92,360,772 N444T possibly damaging Het
Kmt2d A T 15: 98,863,831 M546K unknown Het
Lrrc37a A G 11: 103,504,287 L104S probably benign Het
Med12 T C X: 101,284,932 L1143P probably damaging Het
Mettl11b A G 1: 163,717,087 V109A probably benign Het
Mtcl1 T C 17: 66,338,021 H1477R probably benign Het
Nkap T A X: 37,147,784 probably benign Het
Olfr714 A T 7: 107,074,439 T204S possibly damaging Het
Osbpl6 C T 2: 76,555,974 Q214* probably null Het
Pex1 C T 5: 3,635,865 T1202I possibly damaging Het
Prrc2b A T 2: 32,219,613 N1066I probably damaging Het
Psmg1 T C 16: 95,987,297 E152G probably damaging Het
Scn10a A G 9: 119,610,123 I1560T probably damaging Het
Shd A G 17: 55,973,987 E221G possibly damaging Het
Slc39a4 T C 15: 76,613,624 T478A probably benign Het
Snx2 A G 18: 53,210,372 I281V probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tmem161a A T 8: 70,182,043 R297S probably damaging Het
Tns1 A G 1: 73,985,873 probably null Het
Ugt2b36 G A 5: 87,080,924 T420M probably damaging Het
Wdfy4 G A 14: 33,090,861 R1652* probably null Het
Zap70 T A 1: 36,771,920 Y178* probably null Het
Zdhhc3 A G 9: 123,100,391 F60L probably damaging Het
Other mutations in Kcnip2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01833:Kcnip2 APN 19 45794307 splice site probably null
IGL01927:Kcnip2 APN 19 45795605 missense probably damaging 0.98
IGL03069:Kcnip2 APN 19 45796271 intron probably benign
IGL03200:Kcnip2 APN 19 45794063 missense probably damaging 1.00
R0309:Kcnip2 UTSW 19 45794075 splice site probably benign
R1205:Kcnip2 UTSW 19 45794983 missense probably null 1.00
R1677:Kcnip2 UTSW 19 45794540 missense probably damaging 1.00
R1969:Kcnip2 UTSW 19 45793683 missense probably null 0.99
R4175:Kcnip2 UTSW 19 45812215 missense probably benign 0.06
R4393:Kcnip2 UTSW 19 45812230 missense probably benign 0.38
R5335:Kcnip2 UTSW 19 45794246 missense probably benign 0.03
R7782:Kcnip2 UTSW 19 45797085 critical splice donor site probably null
R7938:Kcnip2 UTSW 19 45794290 missense probably damaging 1.00
R8197:Kcnip2 UTSW 19 45794291 missense possibly damaging 0.94
Posted On2015-04-16