Incidental Mutation 'IGL01060:Popdc2'
ID52875
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 #IGL01060
Quality Score
Status
Chromosome16
Chromosomal Location38362209-38378216 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 38373965 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 249 (N249K)
Ref Sequence ENSEMBL: ENSMUSP00000110387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023494] [ENSMUST00000114739]
Predicted Effect probably damaging
Transcript: ENSMUST00000023494
AA Change: N249K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000023494
Gene: ENSMUSG00000022803
AA Change: N249K

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 damaging
Transcript: ENSMUST00000114739
AA Change: N249K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110387
Gene: ENSMUSG00000022803
AA Change: N249K

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Ccnb3 A T X: 6,980,274 N1362K probably benign Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Popdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Popdc2 APN 16 38374131 missense probably benign
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
R8385:Popdc2 UTSW 16 38362900 missense probably benign 0.04
Posted On2013-06-21