Incidental Mutation 'R6028:Popdc3'
ID 480185
Institutional Source Beutler Lab
Gene Symbol Popdc3
Ensembl Gene ENSMUSG00000019848
Gene Name popeye domain containing 3
Synonyms Pop3
MMRRC Submission 044200-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6028 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 45165401-45194546 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45194015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 272 (D272G)
Ref Sequence ENSEMBL: ENSMUSP00000019994 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019994] [ENSMUST00000161803] [ENSMUST00000175658]
AlphaFold Q9ES81
Predicted Effect probably benign
Transcript: ENSMUST00000019994
AA Change: D272G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019994
Gene: ENSMUSG00000019848
AA Change: D272G

DomainStartEndE-ValueType
Pfam:Popeye 25 249 1.8e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161803
SMART Domains Protein: ENSMUSP00000125532
Gene: ENSMUSG00000019848

DomainStartEndE-ValueType
transmembrane domain 27 44 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
Pfam:Popeye 107 169 5.9e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175658
SMART Domains Protein: ENSMUSP00000135373
Gene: ENSMUSG00000019848

DomainStartEndE-ValueType
transmembrane domain 27 44 N/A INTRINSIC
transmembrane domain 48 70 N/A INTRINSIC
transmembrane domain 77 99 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 100% (72/72)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T A 3: 36,533,718 (GRCm39) probably null Het
Acat1 A T 9: 53,503,366 (GRCm39) Y158N probably damaging Het
Adamtsl1 C A 4: 86,260,561 (GRCm39) A924E probably damaging Het
Adck1 A T 12: 88,368,902 (GRCm39) M127L probably benign Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Alad G T 4: 62,428,359 (GRCm39) T305K probably benign Het
Ankrd33 T C 15: 101,016,953 (GRCm39) F65S probably damaging Het
Ap3d1 T C 10: 80,558,761 (GRCm39) N281S possibly damaging Het
Arhgap30 A G 1: 171,235,888 (GRCm39) D754G probably benign Het
Asah2 T C 19: 31,993,914 (GRCm39) D438G probably damaging Het
Cachd1 C A 4: 100,840,753 (GRCm39) N905K probably damaging Het
Cdh23 G T 10: 60,370,314 (GRCm39) D160E probably damaging Het
Cntln T A 4: 84,889,410 (GRCm39) S298T probably benign Het
Cplx3 A G 9: 57,515,546 (GRCm39) I443T probably damaging Het
Dnah5 T A 15: 28,387,979 (GRCm39) M3146K probably damaging Het
Doc2b C A 11: 75,663,412 (GRCm39) A347S probably benign Het
Efcab3 T C 11: 104,660,481 (GRCm39) probably null Het
Eif1ad16 A T 12: 87,985,131 (GRCm39) D137E possibly damaging Het
Eps8l2 T C 7: 140,937,746 (GRCm39) F422S possibly damaging Het
Esm1 A G 13: 113,353,201 (GRCm39) N161S possibly damaging Het
Fbxw10 C T 11: 62,764,345 (GRCm39) Q671* probably null Het
Fnbp4 C A 2: 90,581,478 (GRCm39) T177K probably benign Het
Gpr137c C A 14: 45,514,938 (GRCm39) Q266K probably damaging Het
Hax1 GTCATCATCATCATCATC GTCATCATCATCATCATCATC 3: 89,905,247 (GRCm39) probably benign Het
Hk1 C A 10: 62,188,837 (GRCm39) K25N probably null Het
Klhl29 G T 12: 5,140,995 (GRCm39) Y616* probably null Het
Lmnb1 T G 18: 56,876,348 (GRCm39) Y485* probably null Het
Lrrc63 A G 14: 75,323,614 (GRCm39) S537P possibly damaging Het
Ltbp2 T A 12: 84,831,626 (GRCm39) N1686I probably damaging Het
Map9 T A 3: 82,287,555 (GRCm39) probably null Het
Marco T A 1: 120,418,671 (GRCm39) Q194L probably damaging Het
Mc3r A T 2: 172,091,129 (GRCm39) D117V probably damaging Het
Meltf T A 16: 31,706,294 (GRCm39) D259E possibly damaging Het
Mical1 A T 10: 41,362,873 (GRCm39) M973L probably benign Het
Mmp21 T C 7: 133,280,443 (GRCm39) T176A probably benign Het
Mterf1b T A 5: 4,247,666 (GRCm39) probably null Het
Muc16 G A 9: 18,568,472 (GRCm39) S1349F unknown Het
Nacc2 A G 2: 25,951,590 (GRCm39) V415A probably damaging Het
Ncl A G 1: 86,283,855 (GRCm39) V322A probably benign Het
Neb G A 2: 52,083,243 (GRCm39) T1639I probably damaging Het
Nfia A G 4: 97,999,488 (GRCm39) H485R possibly damaging Het
Nlrp9a C T 7: 26,257,762 (GRCm39) T460I probably benign Het
Or8g24 T A 9: 38,989,379 (GRCm39) I221F probably damaging Het
Or8k32 T A 2: 86,369,113 (GRCm39) I49F possibly damaging Het
Patl2 T A 2: 121,956,618 (GRCm39) Q158L possibly damaging Het
Pja2 T C 17: 64,616,085 (GRCm39) D270G probably benign Het
Pkd1l1 T C 11: 8,786,267 (GRCm39) H1929R probably benign Het
Plekhh3 A T 11: 101,057,396 (GRCm39) M287K probably damaging Het
Polb G T 8: 23,130,011 (GRCm39) S187* probably null Het
Prkar2b A T 12: 32,043,757 (GRCm39) D121E possibly damaging Het
Psmd3 T A 11: 98,576,491 (GRCm39) L131Q probably damaging Het
Ptcd3 A T 6: 71,875,392 (GRCm39) C197S probably damaging Het
Ptprf A T 4: 118,070,826 (GRCm39) V1391D probably benign Het
Purb A G 11: 6,425,150 (GRCm39) F246S probably damaging Het
Rgs8 C A 1: 153,566,734 (GRCm39) T95N probably damaging Het
Slc2a13 T C 15: 91,160,319 (GRCm39) N545S probably damaging Het
Smpd2 A G 10: 41,365,344 (GRCm39) W51R probably damaging Het
Srgap1 T C 10: 121,664,635 (GRCm39) Q490R probably null Het
Strbp G A 2: 37,515,267 (GRCm39) T253I probably damaging Het
Sult1d1 A T 5: 87,707,685 (GRCm39) M145K probably damaging Het
Taf5l A C 8: 124,729,714 (GRCm39) probably null Het
Tas2r131 T G 6: 132,934,639 (GRCm39) I57L probably benign Het
Tcf25 A G 8: 124,108,176 (GRCm39) N77S possibly damaging Het
Tmem253 A G 14: 52,255,268 (GRCm39) T57A possibly damaging Het
Tspan17 A G 13: 54,941,111 (GRCm39) N130S probably damaging Het
Utrn T C 10: 12,530,460 (GRCm39) S2118G probably benign Het
Vmn2r3 T A 3: 64,182,698 (GRCm39) T334S probably benign Het
Wnk2 G T 13: 49,229,821 (GRCm39) A901E probably damaging Het
Zc3hav1 T C 6: 38,284,275 (GRCm39) T947A probably benign Het
Zfhx3 C T 8: 109,520,135 (GRCm39) P419L probably damaging Het
Zfp292 A G 4: 34,819,549 (GRCm39) S258P probably damaging Het
Zfp964 A G 8: 70,116,563 (GRCm39) T388A unknown Het
Other mutations in Popdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Popdc3 APN 10 45,193,922 (GRCm39) splice site probably null
IGL01304:Popdc3 APN 10 45,194,005 (GRCm39) missense probably benign
IGL01643:Popdc3 APN 10 45,190,976 (GRCm39) missense probably damaging 1.00
IGL02755:Popdc3 APN 10 45,191,314 (GRCm39) missense probably damaging 1.00
R0410:Popdc3 UTSW 10 45,193,829 (GRCm39) missense possibly damaging 0.95
R0586:Popdc3 UTSW 10 45,191,359 (GRCm39) missense probably benign 0.04
R0738:Popdc3 UTSW 10 45,191,354 (GRCm39) missense probably damaging 1.00
R1102:Popdc3 UTSW 10 45,192,642 (GRCm39) unclassified probably benign
R1649:Popdc3 UTSW 10 45,191,320 (GRCm39) missense probably damaging 1.00
R2026:Popdc3 UTSW 10 45,190,951 (GRCm39) missense probably damaging 1.00
R4720:Popdc3 UTSW 10 45,191,002 (GRCm39) missense probably benign 0.04
R5669:Popdc3 UTSW 10 45,192,529 (GRCm39) missense probably damaging 1.00
R5905:Popdc3 UTSW 10 45,194,015 (GRCm39) missense probably benign
R7468:Popdc3 UTSW 10 45,191,117 (GRCm39) missense probably damaging 1.00
R7693:Popdc3 UTSW 10 45,191,227 (GRCm39) missense probably benign 0.01
R7864:Popdc3 UTSW 10 45,191,278 (GRCm39) missense probably benign 0.13
X0057:Popdc3 UTSW 10 45,191,207 (GRCm39) missense probably benign 0.10
Z1177:Popdc3 UTSW 10 45,190,980 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- ACCGATTGCCGATATGTGTC -3'
(R):5'- AAACTGCCCATCCGTATTCATC -3'

Sequencing Primer
(F):5'- CCGATATGTGTCTTGGAGGAG -3'
(R):5'- CCCATTATAACAGTAAGGAATACGTG -3'
Posted On 2017-06-26