Incidental Mutation 'R1183:Kcnip3'
ID101691
Institutional Source Beutler Lab
Gene Symbol Kcnip3
Ensembl Gene ENSMUSG00000079056
Gene NameKv channel interacting protein 3, calsenilin
SynonymsCsen, KChIP3, R74849, DREAM, 4933407H12Rik
MMRRC Submission 039255-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1183 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location127456498-127522094 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 127465065 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 144 (G144W)
Ref Sequence ENSEMBL: ENSMUSP00000099504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028850] [ENSMUST00000088538] [ENSMUST00000103215]
PDB Structure
NMR Structure of DREAM [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000028850
AA Change: G172W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028850
Gene: ENSMUSG00000079056
AA Change: G172W

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 damaging
Transcript: ENSMUST00000088538
AA Change: G118W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085896
Gene: ENSMUSG00000079056
AA Change: G118W

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 damaging
Transcript: ENSMUST00000103215
AA Change: G144W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099504
Gene: ENSMUSG00000079056
AA Change: G144W

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: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 88.8%
Validation Efficiency
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 36,895,303 L366Q possibly damaging Het
Aars T G 8: 111,041,574 Y192* probably null Het
Abcc6 T C 7: 45,985,253 Y1100C probably damaging Het
Adamtsl2 T C 2: 27,084,080 W132R probably damaging Het
Adgra2 T A 8: 27,114,388 V497E probably damaging Het
Adtrp T G 13: 41,828,337 probably benign Het
Alg9 T A 9: 50,789,533 L201Q possibly damaging Het
Ap4e1 T A 2: 127,014,201 I84K probably damaging Het
Atrnl1 T C 19: 57,650,293 S288P probably damaging Het
Cacna1a A G 8: 84,580,217 D1367G probably damaging Het
Card19 C T 13: 49,205,251 R82Q probably damaging Het
Cep128 T C 12: 91,325,598 I226V possibly damaging Het
Ces1f A C 8: 93,268,005 D259E probably benign Het
Ckap5 T A 2: 91,586,266 M1072K probably benign Het
Dcpp2 T A 17: 23,900,494 V94D probably benign Het
Dnah2 T C 11: 69,446,648 D3209G possibly damaging Het
Dsg1c A G 18: 20,283,198 T719A probably damaging Het
Dsp G A 13: 38,191,740 W1167* probably null Het
Eml5 T C 12: 98,792,046 I1874V probably benign Het
Epg5 A G 18: 77,960,711 T645A probably damaging Het
F2rl2 T C 13: 95,701,113 L222S probably damaging Het
Fam114a1 T A 5: 65,034,388 C495S probably damaging Het
Fbn1 A T 2: 125,321,617 D2106E probably benign Het
Fgf14 T A 14: 124,676,524 N65I probably benign Het
Fip1l1 T C 5: 74,595,102 Y497H probably damaging Het
Fn1 A C 1: 71,586,245 D2376E probably damaging Het
Foxd2 T C 4: 114,907,465 T453A possibly damaging Het
Galnt1 G T 18: 24,271,590 W328L probably damaging Het
Gapt A G 13: 110,353,838 V97A possibly damaging Het
Gatad1 A G 5: 3,643,707 V154A possibly damaging Het
Gdf15 A G 8: 70,631,552 F21L probably benign Het
Igdcc4 T C 9: 65,121,900 F273S possibly damaging Het
Invs A T 4: 48,421,725 R786W possibly damaging Het
Itfg1 T G 8: 85,780,523 E236A probably benign Het
Jak3 A T 8: 71,684,550 I752F probably damaging Het
Kctd19 T C 8: 105,382,966 H925R probably benign Het
Kdr C T 5: 75,946,851 A1011T probably damaging Het
Kif13b C A 14: 64,782,377 H1398Q probably benign Het
Lrp4 A T 2: 91,477,519 probably null Het
Lrtm2 T C 6: 119,320,885 D65G probably benign Het
Lyz1 A G 10: 117,292,810 L10P probably damaging Het
Metap2 A T 10: 93,870,184 N245K probably damaging Het
Mms19 T C 19: 41,954,831 D297G possibly damaging Het
Mocs3 A G 2: 168,231,653 D340G possibly damaging Het
Mtfr1l A G 4: 134,529,125 L243P probably damaging Het
Mtss1 A G 15: 58,971,048 I105T probably damaging Het
Myo18a T C 11: 77,857,745 S1967P probably damaging Het
Ncor2 T C 5: 125,023,521 N2248S possibly damaging Het
Nfatc2 T C 2: 168,590,088 D35G possibly damaging Het
Nup210l T A 3: 90,159,945 M764K probably benign Het
Olfr519 A G 7: 108,893,741 L222P probably damaging Het
Otof T C 5: 30,371,912 S1753G probably damaging Het
Otog G A 7: 46,289,755 V2070I probably benign Het
Piezo2 A G 18: 63,086,753 V961A probably damaging Het
Pofut1 C T 2: 153,261,238 S169L probably benign Het
Ppp1r10 T A 17: 35,929,443 S542T possibly damaging Het
Prpf8 T C 11: 75,490,330 Y219H possibly damaging Het
Ptges3l T C 11: 101,421,905 D113G possibly damaging Het
Pycrl G A 15: 75,918,798 L71F probably benign Het
Ramp3 A G 11: 6,674,867 K54E possibly damaging Het
Rbpms C A 8: 33,804,072 Q214H possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,110,324 probably benign Het
Robo4 C A 9: 37,408,052 D565E probably damaging Het
S100a1 C T 3: 90,511,334 V58I probably benign Het
Setx T A 2: 29,180,092 D2636E probably benign Het
Sun2 A T 15: 79,728,468 V417E probably damaging Het
Tbccd1 T C 16: 22,841,769 N99S probably benign Het
Tex15 A G 8: 33,574,865 D1441G probably benign Het
Tmc2 T A 2: 130,247,976 M627K probably damaging Het
Trim32 A G 4: 65,614,391 Y395C probably benign Het
Trpm2 A G 10: 77,923,564 Y1129H probably damaging Het
Trpm8 A T 1: 88,348,091 R470S probably damaging Het
Tsg101 G T 7: 46,889,624 D389E probably benign Het
Ubn1 T C 16: 5,064,542 L46P probably damaging Het
Ubr5 T C 15: 37,997,175 I1745V possibly damaging Het
Usp20 T C 2: 31,011,785 Y521H probably benign Het
Vmn1r159 A T 7: 22,843,594 H4Q probably null Het
Vmn2r27 T A 6: 124,200,532 E504D probably benign Het
Wdr72 A T 9: 74,179,585 I612F probably benign Het
Zbtb8a T C 4: 129,357,727 H317R possibly damaging Het
Zfp507 T C 7: 35,794,890 S243G probably damaging Het
Zfp764 A G 7: 127,406,247 W73R probably damaging Het
Zmym4 A T 4: 126,925,839 D90E probably damaging 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
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
R3797:Kcnip3 UTSW 2 127482014 missense probably benign 0.01
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
R7234:Kcnip3 UTSW 2 127521336 missense unknown
Predicted Primers PCR Primer
(F):5'- ATTCATGTTGGCAGCTTCCCCG -3'
(R):5'- AGAGTGCCCTATGACCGTTCCTAC -3'

Sequencing Primer
(F):5'- GGCTAGGTTGGATACAAACTCCC -3'
(R):5'- GTCTGATGTTGCCTCTGACC -3'
Posted On2014-01-15