Incidental Mutation 'R0054:Kcnj16'
ID16486
Institutional Source Beutler Lab
Gene Symbol Kcnj16
Ensembl Gene ENSMUSG00000051497
Gene Namepotassium inwardly-rectifying channel, subfamily J, member 16
Synonyms6430410F18Rik, Kir5.1
MMRRC Submission 038348-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #R0054 (G1)
Quality Score
Status Validated
Chromosome11
Chromosomal Location110968033-111027968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 111024723 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Cysteine at position 70 (W70C)
Ref Sequence ENSEMBL: ENSMUSP00000136382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106635] [ENSMUST00000106636] [ENSMUST00000125692] [ENSMUST00000150902] [ENSMUST00000178798] [ENSMUST00000180023]
Predicted Effect probably damaging
Transcript: ENSMUST00000106635
AA Change: W70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: W70C

DomainStartEndE-ValueType
Pfam:IRK 37 357 9.3e-132 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106636
AA Change: W70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: W70C

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000125692
AA Change: W70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497
AA Change: W70C

DomainStartEndE-ValueType
Pfam:IRK 37 103 3.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150902
SMART Domains Protein: ENSMUSP00000121758
Gene: ENSMUSG00000051497

DomainStartEndE-ValueType
Pfam:IRK 37 66 1.5e-9 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000178798
AA Change: W70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: W70C

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000180023
AA Change: W70C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: W70C

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Meta Mutation Damage Score 0.46 question?
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.6%
  • 10x: 76.3%
  • 20x: 59.9%
Validation Efficiency 96% (91/95)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron response to ammonium chloride withdrawal and carbon dioxide treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,601,774 probably null Het
Apoa4 A G 9: 46,242,524 D141G probably benign Het
Arntl2 T G 6: 146,829,718 V507G probably benign Het
Atg9a T C 1: 75,184,499 Y701C probably damaging Het
Baz2b C T 2: 59,932,166 R922Q probably damaging Het
Brms1 T A 19: 5,046,699 C136* probably null Het
Ccdc180 T A 4: 45,890,900 V24E probably benign Het
Clec4f C T 6: 83,652,929 V216M probably benign Het
Cpd C G 11: 76,790,838 G1160R probably damaging Het
Creb5 A G 6: 53,447,657 M128V probably benign Het
Ddb2 G T 2: 91,234,820 Q87K probably benign Het
Defb41 A G 1: 18,251,247 Y48H probably damaging Het
Dido1 T C 2: 180,661,474 N1546D probably benign Het
Dmac1 A G 4: 75,278,100 V51A possibly damaging Het
Dnajb11 C T 16: 22,862,619 A49V probably damaging Het
Dnajc14 G A 10: 128,807,579 D457N probably damaging Het
Eif3a C A 19: 60,766,826 D973Y unknown Het
Farsb T A 1: 78,462,374 K395* probably null Het
Fem1b A G 9: 62,796,800 S393P probably damaging Het
Fsip2 A C 2: 82,986,955 N4344T possibly damaging Het
Gphn A G 12: 78,637,503 S558G probably damaging Het
Gpr142 C A 11: 114,798,929 H2Q probably benign Het
Grhpr T C 4: 44,988,915 probably benign Het
Grik3 C A 4: 125,623,575 N70K probably damaging Het
Gsap T A 5: 21,250,935 probably benign Het
Iars T A 13: 49,693,135 C237S probably damaging Het
Ighv1-9 A T 12: 114,583,982 F7L probably benign Het
Ints8 A G 4: 11,204,595 probably benign Het
Kpna6 T C 4: 129,657,458 M85V probably benign Het
Kri1 G A 9: 21,275,365 S447L probably damaging Het
Lrp1b A G 2: 40,742,817 V3528A probably benign Het
Lrrc46 A T 11: 97,038,779 L77Q probably damaging Het
Mrpl44 T C 1: 79,779,495 L219S probably damaging Het
Ms4a14 T C 19: 11,303,939 I418M probably benign Het
Myo7a T C 7: 98,065,698 D112G probably damaging Het
Ncoa3 A G 2: 166,055,178 T630A possibly damaging Het
Nsl1 T C 1: 191,082,184 L194P probably damaging Het
Olfr1037 T C 2: 86,085,361 K139E probably benign Het
Olfr205 T C 16: 59,329,065 Y148C possibly damaging Het
Pde4d A G 13: 109,740,421 S159G probably benign Het
Pi4ka T C 16: 17,325,114 R845G probably null Het
Pld1 A G 3: 28,095,884 probably benign Het
Psd T A 19: 46,323,342 I300F probably damaging Het
Ptprz1 T A 6: 22,986,196 W332R probably damaging Het
Rnf212 T A 5: 108,745,664 M70L possibly damaging Het
Sema4f A G 6: 82,919,693 probably benign Het
Sez6 C A 11: 77,953,873 T7K possibly damaging Het
Skint2 T C 4: 112,645,463 I290T probably benign Het
Slc5a3 T A 16: 92,077,634 I193N probably damaging Het
Snip1 T A 4: 125,072,840 Y354* probably null Het
Tmco5 A G 2: 116,887,287 Y200C probably damaging Het
Tmem87b T A 2: 128,831,441 probably benign Het
Trim60 T C 8: 65,001,321 E92G probably benign Het
Ttn A T 2: 76,796,460 D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 I168N probably damaging Het
Zfp385c G A 11: 100,629,956 P293S probably benign Het
Zfp473 T A 7: 44,734,475 S144C probably damaging Het
Other mutations in Kcnj16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Kcnj16 APN 11 111025208 missense probably benign 0.15
IGL00596:Kcnj16 APN 11 111024523 missense probably damaging 0.99
IGL02152:Kcnj16 APN 11 111025210 missense probably benign 0.01
IGL02637:Kcnj16 APN 11 111025613 missense probably benign 0.13
R0054:Kcnj16 UTSW 11 111024723 missense probably damaging 1.00
R1256:Kcnj16 UTSW 11 111025436 missense probably damaging 0.99
R1557:Kcnj16 UTSW 11 111025241 missense possibly damaging 0.94
R1919:Kcnj16 UTSW 11 111024953 missense possibly damaging 0.86
R1985:Kcnj16 UTSW 11 111025583 missense probably benign 0.00
R2047:Kcnj16 UTSW 11 111025120 unclassified probably null
R2504:Kcnj16 UTSW 11 111025583 missense probably benign 0.00
R3915:Kcnj16 UTSW 11 111025556 missense probably benign 0.34
R6102:Kcnj16 UTSW 11 111025577 missense probably benign 0.39
R6225:Kcnj16 UTSW 11 111025552 nonsense probably null
R6554:Kcnj16 UTSW 11 111025305 nonsense probably null
R6620:Kcnj16 UTSW 11 111024647 missense probably damaging 1.00
X0021:Kcnj16 UTSW 11 111025127 missense probably damaging 1.00
Posted On2013-01-20