Incidental Mutation 'IGL01392:Popdc2'
ID79252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Popdc2
Ensembl Gene ENSMUSG00000022803
Gene Namepopeye domain containing 2
SynonymsPop2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01392
Quality Score
Status
Chromosome16
Chromosomal Location38362209-38378216 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 38374131 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 305 (V305L)
Ref Sequence ENSEMBL: ENSMUSP00000110387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023494] [ENSMUST00000114739]
Predicted Effect probably benign
Transcript: ENSMUST00000023494
AA Change: V305L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023494
Gene: ENSMUSG00000022803
AA Change: V305L

DomainStartEndE-ValueType
Pfam:Popeye 25 251 6.9e-98 PFAM
low complexity region 306 317 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114739
AA Change: V305L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110387
Gene: ENSMUSG00000022803
AA Change: V305L

DomainStartEndE-ValueType
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
Pfam:Popeye 107 260 2.8e-76 PFAM
low complexity region 306 317 N/A INTRINSIC
low complexity region 320 334 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141189
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the Popeye domain containing family of membrane proteins. Proteins of this family contain three helical transmembrane domains and a conserved intracellular Popeye domain. In the adult mouse, this gene is expressed at high levels in cardiac myocytes, and mice deficient for this gene develop stress-induced cardiac pacemaker dysfunction. The protein binds to a two-pore domain potassium channel and recruits it to the plasma membrane. Cyclic adenosine monophosphate negatively regulates this interaction through the Popeye domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit sinus brachycardia in response to physical or mental stress and catecholamines with a compact sinoatrial node. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1 A G 2: 58,500,546 V2A probably benign Het
Adgrf5 A T 17: 43,450,012 Q866L probably benign Het
Ankrd13a A G 5: 114,797,853 E295G probably benign Het
Arid1a T C 4: 133,681,037 D2053G unknown Het
Calr4 A G 4: 109,253,874 E272G probably benign Het
Cmya5 T C 13: 93,089,206 S3125G probably damaging Het
Dnah7b T C 1: 46,126,788 Y538H probably damaging Het
Eri3 T C 4: 117,589,159 probably null Het
Fmo6 T A 1: 162,930,011 R63* probably null Het
Gm7168 G A 17: 13,948,907 D179N probably benign Het
Gm8979 T C 7: 106,083,755 I98V probably benign Het
Got1l1 T C 8: 27,197,991 T337A probably damaging Het
Igf2r A G 17: 12,704,349 M1191T probably benign Het
Ighv1-54 A G 12: 115,193,937 L30P probably damaging Het
Igkv8-30 A G 6: 70,117,347 S27P probably benign Het
Kcnab2 A T 4: 152,393,797 V335E possibly damaging Het
Klf12 A T 14: 100,149,757 I3N probably damaging Het
Megf8 T C 7: 25,363,749 V2510A probably benign Het
Mme A G 3: 63,362,046 D592G probably damaging Het
Myh1 A G 11: 67,221,301 N1727S probably benign Het
Ncor1 A G 11: 62,340,594 S796P probably damaging Het
Nlrp14 A G 7: 107,197,913 probably benign Het
Olfr1443 T A 19: 12,680,803 Y232N probably benign Het
Olfr508 C T 7: 108,630,678 R229C probably benign Het
Olfr564 T A 7: 102,803,854 Y125* probably null Het
Plekhm2 A G 4: 141,642,426 V86A probably damaging Het
Prpmp5 T C 6: 132,312,420 N147S unknown Het
Rttn C T 18: 88,995,613 H469Y probably benign Het
Slc2a12 T C 10: 22,664,684 V146A probably damaging Het
Sptlc3 A G 2: 139,546,421 E111G possibly damaging Het
Zfp108 T C 7: 24,258,447 probably benign Het
Zfp719 T A 7: 43,591,130 F714Y probably damaging Het
Other mutations in Popdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Popdc2 APN 16 38373965 missense probably damaging 1.00
IGL03001:Popdc2 APN 16 38369519 missense probably benign 0.09
IGL03088:Popdc2 APN 16 38373822 missense probably damaging 1.00
R1698:Popdc2 UTSW 16 38369491 missense probably damaging 1.00
R2152:Popdc2 UTSW 16 38363120 missense possibly damaging 0.78
R2158:Popdc2 UTSW 16 38362826 missense probably damaging 1.00
R4664:Popdc2 UTSW 16 38374287 missense probably damaging 0.97
R5437:Popdc2 UTSW 16 38362901 missense probably benign 0.35
R5748:Popdc2 UTSW 16 38374303 missense probably damaging 1.00
R7036:Popdc2 UTSW 16 38362811 missense probably damaging 1.00
R7037:Popdc2 UTSW 16 38374267 missense probably damaging 1.00
Posted On2013-11-05