Incidental Mutation 'R4370:Epdr1'
| ID |
325964 |
| 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 |
041674-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
19775878-19804000 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 19803576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 53
(V53F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152111
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002883]
[ENSMUST00000002885]
[ENSMUST00000220944]
[ENSMUST00000221014]
[ENSMUST00000222464]
|
| AlphaFold |
Q99M71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002883
|
| SMART Domains |
Protein: ENSMUSP00000002883
Gene: ENSMUSG00000021319
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FRI
|
23 |
141 |
1.8e-60 |
SMART |
|
C345C
|
187 |
290 |
2.7e-27 |
SMART |
|
low complexity region
|
306 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002885
AA Change: V53F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000002885
Gene: ENSMUSG00000002808
AA Change: V53F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Ependymin
|
87 |
210 |
1e-40 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221014
AA Change: V53F
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221810
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222464
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,708 (GRCm39) |
D190E |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
| Car15 |
T |
C |
16: 17,653,299 (GRCm39) |
I289M |
probably damaging |
Het |
| Cdhr18 |
C |
T |
14: 13,862,375 (GRCm38) |
S393N |
probably benign |
Het |
| Cfap100 |
A |
T |
6: 90,390,376 (GRCm39) |
I242N |
probably damaging |
Het |
| Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
| Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
| Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
| Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
| Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
| Slc38a4 |
T |
A |
15: 96,906,965 (GRCm39) |
N258Y |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
| Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
| Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
probably damaging |
Het |
|
| Other mutations in Epdr1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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'- TAACTTAATTGGGGATCGGGAG -3'
(R):5'- GCCTGTGGAACGGAAAATCG -3'
Sequencing Primer
(F):5'- AGCTGCTGGGGGTCTAGC -3'
(R):5'- AGAAGGCTCACGCGACTAGTC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation