Incidental Mutation 'R3797:Kcnip3'
ID473638
Institutional Source Beutler Lab
Gene Symbol Kcnip3
Ensembl Gene ENSMUSG00000079056
Gene NameKv channel interacting protein 3, calsenilin
SynonymsCsen, KChIP3, R74849, DREAM, 4933407H12Rik
MMRRC Submission 040758-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3797 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location127456498-127522094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127482014 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 32 (S32P)
Ref Sequence ENSEMBL: ENSMUSP00000085896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028850] [ENSMUST00000088538] [ENSMUST00000103215]
Predicted Effect probably benign
Transcript: ENSMUST00000028850
SMART Domains Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056

DomainStartEndE-ValueType
EFh 158 186 1.74e-1 SMART
EFh 194 222 3.82e-7 SMART
EFh 242 270 3.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000088538
AA Change: S32P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000085896
Gene: ENSMUSG00000079056
AA Change: S32P

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
EFh 104 132 1.74e-1 SMART
EFh 140 168 3.82e-7 SMART
EFh 188 216 3.79e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103215
SMART Domains Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056

DomainStartEndE-ValueType
low complexity region 60 70 N/A INTRINSIC
EFh 130 158 1.74e-1 SMART
EFh 166 194 3.82e-7 SMART
EFh 214 242 3.79e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137625
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of voltage-gated potassium (Kv) channel-interacting proteins, which belong to the recoverin branch of the EF-hand superfamily. Members of this family are small calcium binding proteins containing EF-hand-like domains. They are integral subunit components of native Kv4 channel complexes that may regulate A-type currents, and hence neuronal excitability, in response to changes in intracellular calcium. The encoded protein also functions as a calcium-regulated transcriptional repressor, and interacts with presenilins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal spatial learning, hyperactivity, hypophagia, increased sensitivity to shock, and enhanced long term potentiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf3 T C 5: 30,196,823 I736V possibly damaging Het
Alpk3 C A 7: 81,092,753 P773T probably benign Het
B4galt1 G A 4: 40,807,258 T376I probably benign Het
Basp1 C A 15: 25,364,312 probably benign Het
Capn5 C T 7: 98,125,829 G535R probably null Het
Ccdc170 G A 10: 4,560,920 V660I possibly damaging Het
Cdc73 A T 1: 143,677,723 D215E probably benign Het
Clec14a G A 12: 58,267,909 A309V probably benign Het
Clns1a G A 7: 97,696,835 G36R probably benign Het
Cops7a C T 6: 124,959,832 R252H probably damaging Het
Csmd2 C T 4: 128,517,595 P2469S probably benign Het
Dsp T A 13: 38,177,284 probably null Het
Eif3d A G 15: 77,968,569 F4S probably damaging Het
Ephb1 T C 9: 101,971,267 T611A probably damaging Het
Fam43b G C 4: 138,395,098 R304G probably benign Het
Fgfr1 G A 8: 25,572,437 D663N probably damaging Het
Gm5592 G A 7: 41,157,835 probably benign Het
Itgb8 T C 12: 119,163,469 I683M possibly damaging Het
Limch1 A G 5: 66,969,079 T8A probably damaging Het
Lmf1 G A 17: 25,654,471 V317M probably damaging Het
Ltbp1 A G 17: 75,362,630 Q1455R probably damaging Het
Marc2 T C 1: 184,841,308 E131G possibly damaging Het
Olfr620 C T 7: 103,611,447 R302Q probably benign Het
Pak7 T C 2: 136,100,826 I465V probably benign Het
Pcdhgb8 T C 18: 37,762,675 I266T probably benign Het
Pde4d T C 13: 109,632,897 S40P probably benign Het
Phrf1 C T 7: 141,259,918 R243* probably null Het
Polk A T 13: 96,486,982 probably benign Het
Ppl T C 16: 5,104,550 probably benign Het
Rab11fip3 A G 17: 26,068,526 C218R possibly damaging Het
Setd2 T C 9: 110,549,571 V818A probably benign Het
Skida1 C A 2: 18,045,897 E815* probably null Het
Slc35g3 A G 11: 69,760,917 F103L probably benign Het
Svil T A 18: 5,060,534 C802S probably benign Het
Trim7 A G 11: 48,845,670 probably null Het
Ugt3a1 G A 15: 9,310,641 W336* probably null Het
Vmn2r72 T C 7: 85,738,077 S760G probably benign Het
Vps13a T C 19: 16,745,947 probably null Het
Wdfy4 A T 14: 33,140,645 I590N probably damaging Het
Xdh T C 17: 73,907,658 E764G probably damaging Het
Xpnpep1 A T 19: 53,006,342 V285D probably benign Het
Zfp934 T C 13: 62,517,888 K313R probably benign Het
Other mutations in Kcnip3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01490:Kcnip3 APN 2 127510879 missense probably benign 0.44
R0277:Kcnip3 UTSW 2 127459979 splice site probably benign
R0410:Kcnip3 UTSW 2 127460066 missense probably damaging 1.00
R0601:Kcnip3 UTSW 2 127458397 splice site probably benign
R1183:Kcnip3 UTSW 2 127465065 missense probably damaging 1.00
R1868:Kcnip3 UTSW 2 127459343 missense probably damaging 1.00
R2265:Kcnip3 UTSW 2 127465061 missense probably benign 0.40
R2443:Kcnip3 UTSW 2 127460063 missense probably damaging 1.00
R5077:Kcnip3 UTSW 2 127465877 missense probably damaging 0.99
R6834:Kcnip3 UTSW 2 127458358 missense probably damaging 1.00
R7084:Kcnip3 UTSW 2 127510936 missense probably benign
Predicted Primers
Posted On2017-04-14