Incidental Mutation 'R9338:Popdc2'
ID 707329
Institutional Source Beutler Lab
Gene Symbol Popdc2
Ensembl Gene ENSMUSG00000022803
Gene Name popeye domain containing 2
Synonyms Pop2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9338 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 38182571-38198578 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38194509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 310 (C310Y)
Ref Sequence ENSEMBL: ENSMUSP00000023494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023494] [ENSMUST00000114739]
AlphaFold Q9ES82
Predicted Effect probably benign
Transcript: ENSMUST00000023494
AA Change: C310Y

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023494
Gene: ENSMUSG00000022803
AA Change: C310Y

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: C310Y

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110387
Gene: ENSMUSG00000022803
AA Change: C310Y

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 T C 5: 124,228,176 (GRCm39) T22A possibly damaging Het
Adam30 G A 3: 98,070,129 (GRCm39) G654D probably damaging Het
Cct3 T C 3: 88,225,706 (GRCm39) V343A probably benign Het
Col11a2 A G 17: 34,266,204 (GRCm39) T358A unknown Het
Cox6a2 T C 7: 127,804,914 (GRCm39) Y94C probably damaging Het
Cubn T A 2: 13,386,703 (GRCm39) I1521F probably damaging Het
Dclk3 C A 9: 111,268,373 (GRCm39) A14E unknown Het
Dlgap2 T C 8: 14,229,683 (GRCm39) probably null Het
Dop1b C A 16: 93,600,448 (GRCm39) Q2042K probably damaging Het
Ech1 A G 7: 28,525,427 (GRCm39) S61G probably null Het
Ext2 T A 2: 93,526,603 (GRCm39) N678Y probably damaging Het
Fgfr2 G T 7: 129,863,561 (GRCm39) C28* probably null Het
Gon4l C A 3: 88,809,019 (GRCm39) D1754E probably benign Het
Hivep2 T A 10: 14,004,693 (GRCm39) C430* probably null Het
Htr7 C T 19: 35,941,780 (GRCm39) probably null Het
Idh3b A T 2: 130,122,392 (GRCm39) M331K probably damaging Het
Ighv2-7 A T 12: 113,771,118 (GRCm39) F56I probably benign Het
Inpp5k C T 11: 75,536,411 (GRCm39) H330Y probably damaging Het
Kif26b T C 1: 178,744,058 (GRCm39) Y1385H probably damaging Het
Mad1l1 A G 5: 140,074,561 (GRCm39) L543P probably damaging Het
Mdn1 A T 4: 32,666,536 (GRCm39) H158L probably benign Het
Mpp2 T A 11: 101,951,249 (GRCm39) T511S probably benign Het
Msantd5f6 T C 4: 73,320,245 (GRCm39) E178G possibly damaging Het
Msh4 T C 3: 153,573,444 (GRCm39) I737V possibly damaging Het
Myo15b T C 11: 115,762,238 (GRCm39) L1186P Het
Nckap1l A G 15: 103,379,991 (GRCm39) T346A probably benign Het
Nox4 G A 7: 87,025,448 (GRCm39) R525Q probably benign Het
Npy5r T C 8: 67,134,658 (GRCm39) N45S probably benign Het
Or6c202 T C 10: 128,996,610 (GRCm39) N81S probably benign Het
Pde6a G A 18: 61,354,109 (GRCm39) A145T probably damaging Het
Pfkp A C 13: 6,634,724 (GRCm39) S678A probably damaging Het
Phxr2 A G 10: 98,962,043 (GRCm39) probably benign Het
Pi4ka C A 16: 17,135,227 (GRCm39) L942F Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Pla2g4e T A 2: 120,019,914 (GRCm39) T179S probably benign Het
Ppip5k1 C T 2: 121,153,827 (GRCm39) R113Q Het
Prmt7 C T 8: 106,961,665 (GRCm39) R193C unknown Het
Prph G C 15: 98,955,359 (GRCm39) R442P probably damaging Het
Prrc2b A G 2: 32,098,779 (GRCm39) Y697C probably damaging Het
Ptprm T A 17: 67,069,143 (GRCm39) R962S probably damaging Het
Raph1 A G 1: 60,529,300 (GRCm39) S654P unknown Het
Reln A G 5: 22,202,937 (GRCm39) F1288L probably damaging Het
Rhot1 T A 11: 80,145,568 (GRCm39) I553N probably benign Het
Rnf168 T C 16: 32,110,801 (GRCm39) probably null Het
Slamf6 T A 1: 171,747,157 (GRCm39) probably benign Het
Srgap1 CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC 10: 121,689,458 (GRCm39) probably benign Het
Taf4b C T 18: 14,954,555 (GRCm39) P544S probably benign Het
Tbc1d24 A G 17: 24,427,377 (GRCm39) V195A probably benign Het
Tomm70a A G 16: 56,942,399 (GRCm39) M59V probably benign Het
Trip12 A G 1: 84,727,019 (GRCm39) S1184P probably damaging Het
Trrap A G 5: 144,727,925 (GRCm39) S549G probably benign Het
Unc5d T A 8: 29,709,471 (GRCm39) probably benign Het
Ush2a G A 1: 188,308,489 (GRCm39) probably null Het
Usp45 T C 4: 21,784,755 (GRCm39) V147A probably damaging Het
Vmn2r77 T A 7: 86,460,994 (GRCm39) N773K probably damaging Het
Vps13c A T 9: 67,858,977 (GRCm39) N2809I probably damaging Het
Yeats2 T A 16: 20,032,078 (GRCm39) S984R possibly damaging Het
Yeats2 T A 16: 20,041,533 (GRCm39) L1141Q probably damaging Het
Zfp58 T A 13: 67,639,394 (GRCm39) T366S probably benign Het
Other mutations in Popdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Popdc2 APN 16 38,194,327 (GRCm39) missense probably damaging 1.00
IGL01392:Popdc2 APN 16 38,194,493 (GRCm39) missense probably benign
IGL03001:Popdc2 APN 16 38,189,881 (GRCm39) missense probably benign 0.09
IGL03088:Popdc2 APN 16 38,194,184 (GRCm39) missense probably damaging 1.00
R1698:Popdc2 UTSW 16 38,189,853 (GRCm39) missense probably damaging 1.00
R2152:Popdc2 UTSW 16 38,183,482 (GRCm39) missense possibly damaging 0.78
R2158:Popdc2 UTSW 16 38,183,188 (GRCm39) missense probably damaging 1.00
R4664:Popdc2 UTSW 16 38,194,649 (GRCm39) missense probably damaging 0.97
R5437:Popdc2 UTSW 16 38,183,263 (GRCm39) missense probably benign 0.35
R5748:Popdc2 UTSW 16 38,194,665 (GRCm39) missense probably damaging 1.00
R7036:Popdc2 UTSW 16 38,183,173 (GRCm39) missense probably damaging 1.00
R7037:Popdc2 UTSW 16 38,194,629 (GRCm39) missense probably damaging 1.00
R8385:Popdc2 UTSW 16 38,183,262 (GRCm39) missense probably benign 0.04
R9022:Popdc2 UTSW 16 38,194,508 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCAAGTTTGGGTTACGCTTCG -3'
(R):5'- TTACGTAGGATCCTGAGCCG -3'

Sequencing Primer
(F):5'- CAAGTTTGGGTTACGCTTCGACATC -3'
(R):5'- TAGGATCCTGAGCCGGTGAC -3'
Posted On 2022-04-18