Incidental Mutation 'R4508:Epdr1'
ID 331086
Institutional Source Beutler Lab
Gene Symbol Epdr1
Ensembl Gene ENSMUSG00000002808
Gene Name ependymin related 1
Synonyms MERP-1, Epdr2, Epdr1, Ucc1, MERP2, MERP-2
MMRRC Submission 041757-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4508 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 19775878-19804000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19778659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 44 (I44V)
Ref Sequence ENSEMBL: ENSMUSP00000152124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002885] [ENSMUST00000220944] [ENSMUST00000221014]
AlphaFold Q99M71
Predicted Effect probably benign
Transcript: ENSMUST00000002885
AA Change: I146V

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808
AA Change: I146V

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Ependymin 87 210 1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220944
AA Change: I44V

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000221014
Meta Mutation Damage Score 0.0605 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type II transmembrane protein that is similar to two families of cell adhesion molecules, the protocadherins and ependymins. This protein may play a role in calcium-dependent cell adhesion. This protein is glycosylated, and the orthologous mouse protein is localized to the lysosome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 8. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A G 2: 150,746,275 (GRCm39) probably benign Het
Amer3 A G 1: 34,627,380 (GRCm39) R540G probably benign Het
Ank C T 15: 27,565,063 (GRCm39) R255W probably damaging Het
Ank3 A C 10: 69,728,200 (GRCm39) I629L probably damaging Het
Arhgap11a T A 2: 113,672,387 (GRCm39) N194Y probably damaging Het
BB014433 T C 8: 15,092,095 (GRCm39) T253A possibly damaging Het
Ccdc40 C A 11: 119,133,335 (GRCm39) D534E probably damaging Het
Chrna2 C A 14: 66,383,902 (GRCm39) N106K probably damaging Het
Clec2f C A 6: 128,997,474 (GRCm39) noncoding transcript Het
Cnnm2 G A 19: 46,865,709 (GRCm39) D766N probably benign Het
Ctc1 A G 11: 68,906,943 (GRCm39) probably null Het
Ddc C T 11: 11,769,393 (GRCm39) probably null Het
Doc2g G A 19: 4,054,036 (GRCm39) probably benign Het
Ep400 T C 5: 110,851,481 (GRCm39) T1334A unknown Het
Fbp2 A T 13: 62,989,679 (GRCm39) I209N probably damaging Het
Garin1b T C 6: 29,323,764 (GRCm39) V163A probably benign Het
Get1 T A 16: 95,946,899 (GRCm39) probably benign Het
Gldc G T 19: 30,120,807 (GRCm39) Q375K probably damaging Het
Hc A C 2: 34,903,077 (GRCm39) V1058G possibly damaging Het
Hydin T A 8: 111,245,886 (GRCm39) S2200T possibly damaging Het
Kcnc1 C T 7: 46,077,712 (GRCm39) P505S probably benign Het
Kifc3 T C 8: 95,834,048 (GRCm39) probably null Het
Klhl10 A G 11: 100,333,002 (GRCm39) E49G possibly damaging Het
Lhx5 T C 5: 120,573,499 (GRCm39) S161P probably damaging Het
Lilra6 G T 7: 3,915,028 (GRCm39) Y455* probably null Het
Lzts1 C T 8: 69,588,270 (GRCm39) R562H probably benign Het
Muc6 G A 7: 141,226,356 (GRCm39) probably benign Het
Ogfod2 C T 5: 124,251,317 (GRCm39) Q74* probably null Het
Or4f56 A C 2: 111,703,947 (GRCm39) D84E probably damaging Het
Or5h17 T A 16: 58,820,138 (GRCm39) V30E probably benign Het
Polr2a T C 11: 69,633,385 (GRCm39) probably null Het
Ptpre T C 7: 135,270,832 (GRCm39) L329P probably damaging Het
Rnh1 T C 7: 140,744,456 (GRCm39) Q73R possibly damaging Het
Scly G A 1: 91,236,047 (GRCm39) V100I possibly damaging Het
Sos2 A T 12: 69,682,435 (GRCm39) L261* probably null Het
Sp1 A C 15: 102,317,747 (GRCm39) Q422P possibly damaging Het
Sp3 A T 2: 72,800,741 (GRCm39) F468Y probably damaging Het
Tenm2 T C 11: 35,899,172 (GRCm39) Y2662C possibly damaging Het
Tmem38a C T 8: 73,326,005 (GRCm39) P20S possibly damaging Het
Tmprss2 C A 16: 97,371,627 (GRCm39) G281C probably damaging Het
Tmprss6 A T 15: 78,343,978 (GRCm39) Y183N probably damaging Het
Ttn A T 2: 76,580,684 (GRCm39) L23403Q probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r90 T C 7: 14,296,084 (GRCm39) N5D probably benign Het
Vps13b A G 15: 35,709,819 (GRCm39) D1922G possibly damaging Het
Other mutations in Epdr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Epdr1 APN 13 19,778,679 (GRCm39) missense possibly damaging 0.94
IGL02120:Epdr1 APN 13 19,778,641 (GRCm39) missense probably damaging 1.00
IGL02716:Epdr1 APN 13 19,778,740 (GRCm39) missense probably benign 0.00
ANU05:Epdr1 UTSW 13 19,778,814 (GRCm39) missense probably damaging 1.00
R0586:Epdr1 UTSW 13 19,778,715 (GRCm39) missense probably damaging 1.00
R1828:Epdr1 UTSW 13 19,778,773 (GRCm39) nonsense probably null
R3196:Epdr1 UTSW 13 19,778,815 (GRCm39) missense probably damaging 1.00
R4370:Epdr1 UTSW 13 19,803,576 (GRCm39) missense probably benign 0.01
R5586:Epdr1 UTSW 13 19,778,718 (GRCm39) missense probably benign 0.20
R7274:Epdr1 UTSW 13 19,777,458 (GRCm39) missense possibly damaging 0.55
R8934:Epdr1 UTSW 13 19,777,350 (GRCm39) missense possibly damaging 0.92
R9373:Epdr1 UTSW 13 19,778,707 (GRCm39) missense possibly damaging 0.87
R9562:Epdr1 UTSW 13 19,778,821 (GRCm39) missense possibly damaging 0.70
R9565:Epdr1 UTSW 13 19,778,821 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TCAAAGTGACAGAGGCATGC -3'
(R):5'- GGCTAGCATGTAGTGGTTCAC -3'

Sequencing Primer
(F):5'- CTAGAAGATGGAGGTGTTTCAACAAC -3'
(R):5'- CCTTTATATCAAAGATCTTTGGGCTC -3'
Posted On 2015-07-21