Incidental Mutation 'R0514:Kcnc3'
ID48104
Institutional Source Beutler Lab
Gene Symbol Kcnc3
Ensembl Gene ENSMUSG00000062785
Gene Namepotassium voltage gated channel, Shaw-related subfamily, member 3
SynonymsKcr2-3, KShIIID, Kv3.3
MMRRC Submission 038708-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0514 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location44590664-44604754 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 44595928 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 547 (Y547*)
Ref Sequence ENSEMBL: ENSMUSP00000146535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208651] [ENSMUST00000209177]
Predicted Effect probably null
Transcript: ENSMUST00000107906
AA Change: Y547*
SMART Domains Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785
AA Change: Y547*

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 21 8e-9 PFAM
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 290 551 4.1e-45 PFAM
Pfam:Ion_trans_2 451 544 8.2e-12 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 730 746 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107907
AA Change: Y547*
SMART Domains Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785
AA Change: Y547*

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 351 539 1.5e-31 PFAM
Pfam:Ion_trans_2 450 544 2.4e-11 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 729 745 N/A INTRINSIC
low complexity region 749 766 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000207493
AA Change: Y547*
Predicted Effect probably benign
Transcript: ENSMUST00000207497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208412
Predicted Effect probably null
Transcript: ENSMUST00000208651
AA Change: Y547*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208849
Predicted Effect probably null
Transcript: ENSMUST00000209177
AA Change: Y547*
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acpp T A 9: 104,319,978 Y154F probably damaging Het
Acsl6 A T 11: 54,350,580 D579V probably damaging Het
Adamts18 C T 8: 113,738,769 probably null Het
Adamts20 A T 15: 94,270,376 V1882D probably damaging Het
Add3 A T 19: 53,236,843 K465* probably null Het
Ago1 T G 4: 126,439,595 I524L probably benign Het
Akr1c18 A G 13: 4,137,191 M208T probably benign Het
Anapc1 C A 2: 128,632,655 L1413F probably damaging Het
Arid4b A T 13: 14,184,317 D646V probably damaging Het
Arnt2 T C 7: 84,304,859 E261G probably benign Het
Bccip C T 7: 133,719,130 T211I possibly damaging Het
Bsn T C 9: 108,125,782 S475G probably benign Het
Cdh26 G A 2: 178,466,828 probably null Het
Ceacam2 A G 7: 25,520,931 F414S probably benign Het
Cfb T C 17: 34,860,898 R172G probably damaging Het
Cntnap5b A C 1: 99,772,786 T8P probably benign Het
Cpne9 A T 6: 113,290,013 I136L probably damaging Het
Crtc1 A T 8: 70,402,429 probably null Het
Dcdc2a A T 13: 25,119,386 H300L probably benign Het
Dhdh C T 7: 45,488,706 V20M probably benign Het
Dhx34 T C 7: 16,210,537 Q584R probably benign Het
Dis3l2 A G 1: 87,047,092 Y701C probably damaging Het
Dmrt2 T C 19: 25,675,655 probably null Het
Dnah5 A G 15: 28,366,321 T2727A probably damaging Het
Dopey1 A G 9: 86,520,734 E1329G probably damaging Het
Evpl A G 11: 116,223,291 V1191A probably damaging Het
Fam198a A G 9: 121,978,352 T521A possibly damaging Het
Fgfr1op A G 17: 8,191,434 N342S possibly damaging Het
Fhl4 T C 10: 85,098,386 D177G probably damaging Het
Heg1 A G 16: 33,726,756 T662A possibly damaging Het
Ifih1 A G 2: 62,623,391 probably null Het
Il13 T C 11: 53,632,518 R87G possibly damaging Het
Krt81 C A 15: 101,463,627 R24L possibly damaging Het
Lama1 G A 17: 67,764,698 G860D probably benign Het
Lmo7 T C 14: 101,887,173 L356P probably damaging Het
Lmo7 A T 14: 101,896,559 K447I probably damaging Het
Lrp2bp A G 8: 46,011,958 H38R probably damaging Het
Magi3 G A 3: 104,015,022 P1460S probably damaging Het
Megf8 T A 7: 25,364,303 C2695S possibly damaging Het
Mrgprb2 T G 7: 48,551,970 S336R probably benign Het
Mrgprx2 C T 7: 48,482,964 M1I probably null Het
Mug2 T C 6: 122,081,599 L1320P probably damaging Het
Noxred1 A G 12: 87,227,064 S68P probably benign Het
Olfr504 T A 7: 108,565,672 Y41F probably damaging Het
Olfr561 T A 7: 102,775,332 H269Q probably benign Het
Os9 C T 10: 127,119,639 C123Y probably damaging Het
Ostf1 T A 19: 18,596,359 T42S probably benign Het
Parg C A 14: 32,254,560 T186K possibly damaging Het
Pcnx T A 12: 81,995,110 M2172K probably benign Het
Pip4k2a A G 2: 18,845,936 I360T probably damaging Het
Pkn2 T C 3: 142,810,458 D568G possibly damaging Het
Plch2 A G 4: 154,998,886 S431P probably damaging Het
Prl8a6 A T 13: 27,433,007 C233* probably null Het
Prox1 G A 1: 190,161,456 T264I probably damaging Het
Prr5 A G 15: 84,702,766 N248S probably benign Het
Psip1 A C 4: 83,460,037 S407R probably damaging Het
Rab32 A T 10: 10,550,896 V102E probably damaging Het
Rap1gap2 T G 11: 74,388,854 K687Q possibly damaging Het
Rbak A T 5: 143,173,414 V628E probably damaging Het
Rnf148 T C 6: 23,654,793 E68G possibly damaging Het
Rnf212 A T 5: 108,749,442 S3T probably damaging Het
Rrad T G 8: 104,628,627 I250L probably benign Het
Sall4 T C 2: 168,755,705 H405R probably damaging Het
Scn9a T C 2: 66,483,678 R1888G probably damaging Het
Setd5 G T 6: 113,119,437 E535* probably null Het
Slc20a1 C T 2: 129,199,891 S58L probably damaging Het
Slc31a1 A G 4: 62,385,604 probably benign Het
Slc38a11 G T 2: 65,316,865 Q423K probably benign Het
Snrpd1 A T 18: 10,626,846 T38S possibly damaging Het
Taar4 A G 10: 23,960,882 D130G probably damaging Het
Tfb2m C T 1: 179,531,304 R338H probably benign Het
Tm2d2 A G 8: 25,022,726 I197V possibly damaging Het
Tmem132a C T 19: 10,858,991 G725D probably damaging Het
Tmem67 T C 4: 12,089,317 T38A probably benign Het
Tmprss15 A T 16: 78,968,267 S816T probably benign Het
Tnfrsf11a A G 1: 105,826,992 E263G probably damaging Het
Tnfrsf17 C T 16: 11,315,327 L90F probably benign Het
Tpr A G 1: 150,402,273 K117E possibly damaging Het
Trim43a C T 9: 88,584,336 Q5* probably null Het
Ubn1 A T 16: 5,073,071 D498V probably damaging Het
Vipr1 T A 9: 121,658,049 C63S probably damaging Het
Vmn1r237 T A 17: 21,314,670 H218Q possibly damaging Het
Vmn2r100 C A 17: 19,522,120 P252Q possibly damaging Het
Vmn2r95 T C 17: 18,451,582 V527A probably benign Het
Vmn2r97 A T 17: 18,914,472 T51S probably benign Het
Vwa8 G A 14: 78,947,189 V376I probably benign Het
Wdfy4 T A 14: 33,080,775 T1838S probably benign Het
Zcwpw1 A T 5: 137,796,683 E47V probably benign Het
Zeb2 T C 2: 45,002,647 E130G possibly damaging Het
Zfp111 A G 7: 24,199,143 Y348H probably damaging Het
Zfp53 T C 17: 21,509,009 S435P probably damaging Het
Other mutations in Kcnc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Kcnc3 APN 7 44595386 missense probably damaging 1.00
IGL01607:Kcnc3 APN 7 44591304 missense probably damaging 1.00
IGL02397:Kcnc3 APN 7 44595794 missense probably damaging 1.00
IGL02807:Kcnc3 APN 7 44595957 missense probably damaging 1.00
IGL02961:Kcnc3 APN 7 44591492 missense probably damaging 0.99
elfen UTSW 7 44591296 frame shift probably null
Le_fitness UTSW 7 44595182 missense possibly damaging 0.92
Svelte UTSW 7 44595816 missense probably damaging 1.00
Trim UTSW 7 44595603 missense probably damaging 1.00
R0827:Kcnc3 UTSW 7 44595206 missense probably damaging 0.99
R1514:Kcnc3 UTSW 7 44595603 missense probably damaging 1.00
R2875:Kcnc3 UTSW 7 44591537 nonsense probably null
R4597:Kcnc3 UTSW 7 44595816 missense probably damaging 1.00
R4954:Kcnc3 UTSW 7 44591296 frame shift probably null
R4955:Kcnc3 UTSW 7 44591296 frame shift probably null
R6012:Kcnc3 UTSW 7 44598872 missense probably benign 0.26
R6093:Kcnc3 UTSW 7 44591508 missense probably benign 0.44
R6488:Kcnc3 UTSW 7 44595182 missense possibly damaging 0.92
R7542:Kcnc3 UTSW 7 44595714 missense possibly damaging 0.84
R7595:Kcnc3 UTSW 7 44591469 missense probably damaging 1.00
R7909:Kcnc3 UTSW 7 44595687 missense probably damaging 1.00
R7990:Kcnc3 UTSW 7 44595687 missense probably damaging 1.00
Z1177:Kcnc3 UTSW 7 44596106 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCACCATGATCTACTATGCCGAAC -3'
(R):5'- AGGAGGCAATCCCATGATTCCCAG -3'

Sequencing Primer
(F):5'- TGATCCTGACGACATCCTGG -3'
(R):5'- CATGATTCCCAGGCCCC -3'
Posted On2013-06-12