Incidental Mutation 'R6102:Kcnj16'
ID 485330
Institutional Source Beutler Lab
Gene Symbol Kcnj16
Ensembl Gene ENSMUSG00000051497
Gene Name potassium inwardly-rectifying channel, subfamily J, member 16
Synonyms 6430410F18Rik, Kir5.1
MMRRC Submission 044252-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R6102 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 110858859-110918794 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110916403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 355 (E355G)
Ref Sequence ENSEMBL: ENSMUSP00000136382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106635] [ENSMUST00000106636] [ENSMUST00000125692] [ENSMUST00000150902] [ENSMUST00000178798] [ENSMUST00000180023]
AlphaFold Q9Z307
Predicted Effect probably benign
Transcript: ENSMUST00000106635
AA Change: E355G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102246
Gene: ENSMUSG00000051497
AA Change: E355G

DomainStartEndE-ValueType
Pfam:IRK 37 357 9.3e-132 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106636
AA Change: E355G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102247
Gene: ENSMUSG00000051497
AA Change: E355G

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125692
SMART Domains Protein: ENSMUSP00000119921
Gene: ENSMUSG00000051497

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 benign
Transcript: ENSMUST00000178798
AA Change: E355G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000137414
Gene: ENSMUSG00000051497
AA Change: E355G

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000180023
AA Change: E355G

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136382
Gene: ENSMUSG00000051497
AA Change: E355G

DomainStartEndE-ValueType
Pfam:IRK 37 368 2e-145 PFAM
low complexity region 371 383 N/A INTRINSIC
Meta Mutation Damage Score 0.1621 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency 97% (65/67)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12e A G 11: 70,210,849 (GRCm39) I290T possibly damaging Het
Apeh T A 9: 107,963,638 (GRCm39) D559V probably damaging Het
Aspm T A 1: 139,405,197 (GRCm39) Y1361* probably null Het
Atad5 G T 11: 80,002,398 (GRCm39) probably null Het
Ccr4 C T 9: 114,325,561 (GRCm39) probably null Het
Clasrp G A 7: 19,320,393 (GRCm39) probably benign Het
Cldn23 A G 8: 36,292,705 (GRCm39) M261T probably benign Het
Cmya5 T C 13: 93,230,739 (GRCm39) M1450V probably benign Het
Cyp4v3 T A 8: 45,773,197 (GRCm39) E202V probably damaging Het
Dnah7a A T 1: 53,598,299 (GRCm39) V1412E probably benign Het
Dnah9 A G 11: 65,881,342 (GRCm39) S2578P probably damaging Het
Dsc2 T A 18: 20,180,165 (GRCm39) Y196F probably benign Het
Exoc1 T C 5: 76,685,626 (GRCm39) S113P probably damaging Het
Fbxo6 A T 4: 148,233,979 (GRCm39) I39N probably damaging Het
Frs3 C T 17: 48,013,596 (GRCm39) H173Y probably damaging Het
Ginm1 G T 10: 7,644,260 (GRCm39) T323K probably benign Het
Golgb1 T C 16: 36,733,227 (GRCm39) S825P probably damaging Het
Hs3st3b1 A T 11: 63,812,681 (GRCm39) C11* probably null Het
Ighv3-3 G C 12: 114,160,080 (GRCm39) A110G possibly damaging Het
Igkv6-20 G A 6: 70,312,853 (GRCm39) H107Y probably benign Het
Lig4 C T 8: 10,022,872 (GRCm39) G303S probably damaging Het
Map1b A C 13: 99,562,381 (GRCm39) V2443G unknown Het
Map3k6 T C 4: 132,974,442 (GRCm39) probably null Het
Mmp13 A G 9: 7,276,688 (GRCm39) Q261R probably benign Het
Mphosph9 T A 5: 124,435,772 (GRCm39) I554F possibly damaging Het
Mrgpra3 A T 7: 47,239,897 (GRCm39) F10I possibly damaging Het
Ms4a18 G A 19: 10,990,887 (GRCm39) T69I probably benign Het
Mtmr3 T C 11: 4,437,673 (GRCm39) N927S probably damaging Het
Necab1 T A 4: 14,989,211 (GRCm39) Q188L probably benign Het
Nfatc2 A G 2: 168,361,427 (GRCm39) probably benign Het
Or5i1 T C 2: 87,613,192 (GRCm39) F103L probably damaging Het
Or5p70 T C 7: 107,994,491 (GRCm39) S55P probably damaging Het
Or7g34 T C 9: 19,478,318 (GRCm39) M121V possibly damaging Het
Paip2b A C 6: 83,785,828 (GRCm39) V134G possibly damaging Het
Pax3 T C 1: 78,108,984 (GRCm39) T225A probably damaging Het
Pbx1 C A 1: 168,011,134 (GRCm39) A298S probably benign Het
Pcdhac2 A T 18: 37,279,335 (GRCm39) K772* probably null Het
Pcsk4 A T 10: 80,161,651 (GRCm39) Y163* probably null Het
Plcd3 A G 11: 102,971,470 (GRCm39) V58A probably damaging Het
Plek2 T A 12: 78,946,867 (GRCm39) T57S possibly damaging Het
Plscr2 C T 9: 92,169,721 (GRCm39) T57I probably benign Het
Ppp2r5b A G 19: 6,284,768 (GRCm39) S32P probably benign Het
Ppp3r2 C T 4: 49,682,022 (GRCm39) probably benign Het
Psme4 T A 11: 30,815,567 (GRCm39) L1693H probably damaging Het
Rrbp1 T A 2: 143,830,313 (GRCm39) Q618L probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Serpina3b A T 12: 104,100,428 (GRCm39) T337S probably benign Het
Slc18a2 T C 19: 59,282,310 (GRCm39) Y506H probably benign Het
Slc9a9 A G 9: 94,818,482 (GRCm39) Y292C probably benign Het
Spta1 T C 1: 174,052,086 (GRCm39) V1840A probably benign Het
Ssb T C 2: 69,701,552 (GRCm39) *416Q probably null Het
Strada A G 11: 106,059,262 (GRCm39) V209A probably benign Het
Tbc1d31 A T 15: 57,799,489 (GRCm39) D225V probably damaging Het
Tgm4 T C 9: 122,885,600 (GRCm39) F381L probably benign Het
Tmem120b T A 5: 123,253,207 (GRCm39) Y203N probably damaging Het
Tmem176b A G 6: 48,812,868 (GRCm39) V109A probably benign Het
Tnfrsf11a C A 1: 105,747,671 (GRCm39) L201M possibly damaging Het
Ttn C A 2: 76,804,694 (GRCm39) probably null Het
Tubb2a T C 13: 34,259,326 (GRCm39) I155V probably benign Het
Vmn1r5 A G 6: 56,963,099 (GRCm39) D258G probably damaging Het
Vmn2r121 T C X: 123,043,272 (GRCm39) T120A probably benign Het
Vmn2r19 A T 6: 123,306,907 (GRCm39) I472F probably damaging Het
Vwa3a A G 7: 120,375,361 (GRCm39) probably null Het
Zfp273 A G 13: 67,970,466 (GRCm39) Y5C probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Zfp825 A G 13: 74,628,772 (GRCm39) L248P probably damaging Het
Other mutations in Kcnj16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00579:Kcnj16 APN 11 110,916,034 (GRCm39) missense probably benign 0.15
IGL00596:Kcnj16 APN 11 110,915,349 (GRCm39) missense probably damaging 0.99
IGL02152:Kcnj16 APN 11 110,916,036 (GRCm39) missense probably benign 0.01
IGL02637:Kcnj16 APN 11 110,916,439 (GRCm39) missense probably benign 0.13
R0054:Kcnj16 UTSW 11 110,915,549 (GRCm39) missense probably damaging 1.00
R0054:Kcnj16 UTSW 11 110,915,549 (GRCm39) missense probably damaging 1.00
R1256:Kcnj16 UTSW 11 110,916,262 (GRCm39) missense probably damaging 0.99
R1557:Kcnj16 UTSW 11 110,916,067 (GRCm39) missense possibly damaging 0.94
R1919:Kcnj16 UTSW 11 110,915,779 (GRCm39) missense possibly damaging 0.86
R1985:Kcnj16 UTSW 11 110,916,409 (GRCm39) missense probably benign 0.00
R2047:Kcnj16 UTSW 11 110,915,946 (GRCm39) splice site probably null
R2504:Kcnj16 UTSW 11 110,916,409 (GRCm39) missense probably benign 0.00
R3915:Kcnj16 UTSW 11 110,916,382 (GRCm39) missense probably benign 0.34
R6225:Kcnj16 UTSW 11 110,916,378 (GRCm39) nonsense probably null
R6554:Kcnj16 UTSW 11 110,916,131 (GRCm39) nonsense probably null
R6620:Kcnj16 UTSW 11 110,915,473 (GRCm39) missense probably damaging 1.00
R7747:Kcnj16 UTSW 11 110,915,569 (GRCm39) missense probably damaging 1.00
R7990:Kcnj16 UTSW 11 110,915,886 (GRCm39) missense probably damaging 0.99
R8161:Kcnj16 UTSW 11 110,915,341 (GRCm39) start codon destroyed probably null 0.99
R8414:Kcnj16 UTSW 11 110,916,441 (GRCm39) missense probably benign
R8810:Kcnj16 UTSW 11 110,915,677 (GRCm39) missense possibly damaging 0.91
R8932:Kcnj16 UTSW 11 110,915,829 (GRCm39) missense probably damaging 1.00
X0021:Kcnj16 UTSW 11 110,915,953 (GRCm39) missense probably damaging 1.00
Z1177:Kcnj16 UTSW 11 110,916,596 (GRCm39) missense probably benign
Z1177:Kcnj16 UTSW 11 110,915,379 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- GTGATTCCACTGGGACATCC -3'
(R):5'- ACATCTGGGATTCCATGGAGATC -3'

Sequencing Primer
(F):5'- GTCCAGAAGTTCCTACATCCC -3'
(R):5'- TCCTATTTAAAGTCAGGAGGGC -3'
Posted On 2017-08-16