Incidental Mutation 'IGL02120:Enpp5'
| ID |
280545 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
44078813-44086567 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44080845 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 55
(M55K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122767
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024756]
[ENSMUST00000126032]
[ENSMUST00000154166]
|
| AlphaFold |
Q9EQG7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024756
AA Change: M55K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: M55K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
30 |
342 |
7.1e-91 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126032
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154166
AA Change: M55K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: M55K
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:Phosphodiest
|
30 |
342 |
2.1e-86 |
PFAM |
|
transmembrane domain
|
430 |
452 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type-I transmembrane glycoprotein. Studies in rat suggest the encoded protein may play a role in neuronal cell communications. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,257,310 (GRCm38) |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 45,146,035 (GRCm38) |
P400L |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,056 (GRCm38) |
T113A |
possibly damaging |
Het |
| Aox3 |
T |
A |
1: 58,127,650 (GRCm38) |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 122,004,257 (GRCm38) |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,602,727 (GRCm38) |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,500,942 (GRCm38) |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,951,563 (GRCm38) |
M950K |
probably damaging |
Het |
| Cfap107 |
C |
T |
4: 144,418,411 (GRCm38) |
R195H |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,734,541 (GRCm38) |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,285,622 (GRCm38) |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,647,883 (GRCm38) |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,118,568 (GRCm38) |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,894,178 (GRCm38) |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,495,717 (GRCm38) |
K2795E |
possibly damaging |
Het |
| Epdr1 |
A |
T |
13: 19,594,471 (GRCm38) |
S50T |
probably damaging |
Het |
| Gm7808 |
T |
A |
9: 19,928,017 (GRCm38) |
|
probably benign |
Het |
| Huwe1 |
T |
A |
X: 151,907,390 (GRCm38) |
F2485I |
possibly damaging |
Het |
| Kcnb2 |
C |
T |
1: 15,709,861 (GRCm38) |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 67,716,789 (GRCm38) |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,835,859 (GRCm38) |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,228,453 (GRCm38) |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 142,010,298 (GRCm38) |
V33L |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,485,633 (GRCm38) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,136,862 (GRCm38) |
G490D |
probably damaging |
Het |
| Or13n4 |
A |
C |
7: 106,823,698 (GRCm38) |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,309,818 (GRCm38) |
V177A |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,111,552 (GRCm38) |
D656G |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,861,769 (GRCm38) |
|
probably benign |
Het |
| Prp2rt |
G |
T |
13: 97,098,777 (GRCm38) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,667,472 (GRCm38) |
E775G |
probably damaging |
Het |
| Rad54l |
T |
C |
4: 116,098,984 (GRCm38) |
I549V |
probably benign |
Het |
| Ranbp10 |
T |
C |
8: 105,805,582 (GRCm38) |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 (GRCm38) |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,902,048 (GRCm38) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,946,706 (GRCm38) |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,388,564 (GRCm38) |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,950,167 (GRCm38) |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,670,443 (GRCm38) |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 123,046,529 (GRCm38) |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,930,675 (GRCm38) |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,181,401 (GRCm38) |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,843,636 (GRCm38) |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,616,034 (GRCm38) |
L786M |
probably benign |
Het |
|
| Other mutations in Enpp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Enpp5
|
APN |
17 |
44,085,197 (GRCm38) |
splice site |
probably benign |
|
|
IGL01593:Enpp5
|
APN |
17 |
44,080,721 (GRCm38) |
missense |
probably benign |
|
|
IGL01654:Enpp5
|
APN |
17 |
44,081,175 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02142:Enpp5
|
APN |
17 |
44,085,577 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02531:Enpp5
|
APN |
17 |
44,080,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02630:Enpp5
|
APN |
17 |
44,082,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Cacao
|
UTSW |
17 |
44,085,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
canola
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1101:Enpp5
|
UTSW |
17 |
44,081,367 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2074:Enpp5
|
UTSW |
17 |
44,085,373 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2679:Enpp5
|
UTSW |
17 |
44,085,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4739:Enpp5
|
UTSW |
17 |
44,081,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4817:Enpp5
|
UTSW |
17 |
44,080,980 (GRCm38) |
makesense |
probably null |
|
|
R5152:Enpp5
|
UTSW |
17 |
44,081,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6021:Enpp5
|
UTSW |
17 |
44,085,319 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6160:Enpp5
|
UTSW |
17 |
44,081,368 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6330:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6385:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6387:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6452:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6454:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6461:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6462:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6463:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6469:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6470:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6473:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6563:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6564:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6760:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6812:Enpp5
|
UTSW |
17 |
44,085,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6821:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6824:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6965:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7169:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7171:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7375:Enpp5
|
UTSW |
17 |
44,080,977 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7393:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7394:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7411:Enpp5
|
UTSW |
17 |
44,081,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7412:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7446:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7560:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7561:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7589:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7590:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7591:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8211:Enpp5
|
UTSW |
17 |
44,081,511 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9256:Enpp5
|
UTSW |
17 |
44,085,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9321:Enpp5
|
UTSW |
17 |
44,082,798 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
| Posted On |
2015-04-16 |
Incidental Mutation