Incidental Mutation 'ANU05:Epdr1'
ID 262510
Institutional Source Beutler Lab
Gene Symbol Epdr1
Ensembl Gene ENSMUSG00000002808
Gene Name ependymin related 1
Synonyms MERP-1, Epdr2, Epdr1, Ucc1, MERP2, MERP-2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 19775878-19804000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 19778814 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 94 (Y94C)
Ref Sequence ENSEMBL: ENSMUSP00000002885 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002885] [ENSMUST00000220944] [ENSMUST00000221014]
AlphaFold Q99M71
Predicted Effect probably damaging
Transcript: ENSMUST00000002885
AA Change: Y94C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808
AA Change: Y94C

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
Pfam:Ependymin 87 210 1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220944
Predicted Effect probably benign
Transcript: ENSMUST00000221014
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign 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
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
R4508:Epdr1 UTSW 13 19,778,659 (GRCm39) missense probably benign 0.13
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'- TTCCCCAGCATACACCCTGAGATG -3'
(R):5'- TTGCCATAAGCCAGCTATTACACCC -3'

Sequencing Primer
(F):5'- ATACACCCTGAGATGCAGTG -3'
(R):5'- AGCTATTACACCCACATGTCTC -3'
Posted On 2015-02-04