Incidental Mutation 'IGL02531:Enpp5'
ID |
297312 |
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 # |
IGL02531
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
44389704-44397458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44391843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 91
(V91F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024756]
[ENSMUST00000126032]
[ENSMUST00000154166]
|
AlphaFold |
Q9EQG7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000024756
AA Change: V91F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000024756 Gene: ENSMUSG00000023960 AA Change: V91F
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 |
unknown
Transcript: ENSMUST00000126032
AA Change: L36F
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154166
AA Change: V91F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122767 Gene: ENSMUSG00000023960 AA Change: V91F
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
Nipal4 |
T |
C |
11: 46,042,152 (GRCm39) |
I176M |
probably damaging |
Het |
Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
probably damaging |
Het |
|
Other mutations in Enpp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00583:Enpp5
|
APN |
17 |
44,396,088 (GRCm39) |
splice site |
probably benign |
|
IGL01593:Enpp5
|
APN |
17 |
44,391,612 (GRCm39) |
missense |
probably benign |
|
IGL01654:Enpp5
|
APN |
17 |
44,392,066 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02120:Enpp5
|
APN |
17 |
44,391,736 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02142:Enpp5
|
APN |
17 |
44,396,468 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02630:Enpp5
|
APN |
17 |
44,393,766 (GRCm39) |
missense |
probably damaging |
1.00 |
Cacao
|
UTSW |
17 |
44,396,467 (GRCm39) |
missense |
probably benign |
0.00 |
canola
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R1101:Enpp5
|
UTSW |
17 |
44,392,258 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2074:Enpp5
|
UTSW |
17 |
44,396,264 (GRCm39) |
missense |
probably benign |
0.25 |
R2679:Enpp5
|
UTSW |
17 |
44,396,279 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Enpp5
|
UTSW |
17 |
44,392,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R4817:Enpp5
|
UTSW |
17 |
44,391,871 (GRCm39) |
makesense |
probably null |
|
R5152:Enpp5
|
UTSW |
17 |
44,392,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R6021:Enpp5
|
UTSW |
17 |
44,396,210 (GRCm39) |
missense |
probably benign |
0.22 |
R6160:Enpp5
|
UTSW |
17 |
44,392,259 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6330:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6385:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6387:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6452:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6461:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6462:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6463:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6469:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6470:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6471:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6473:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6505:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6563:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6564:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6760:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6812:Enpp5
|
UTSW |
17 |
44,396,467 (GRCm39) |
missense |
probably benign |
0.00 |
R6821:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6824:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6963:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R6965:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7171:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7375:Enpp5
|
UTSW |
17 |
44,391,868 (GRCm39) |
missense |
probably benign |
0.02 |
R7393:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7394:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7411:Enpp5
|
UTSW |
17 |
44,392,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R7412:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7446:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7447:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7560:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7561:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7589:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7590:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R7591:Enpp5
|
UTSW |
17 |
44,396,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R8211:Enpp5
|
UTSW |
17 |
44,392,402 (GRCm39) |
critical splice donor site |
probably null |
|
R9256:Enpp5
|
UTSW |
17 |
44,396,414 (GRCm39) |
missense |
probably benign |
0.00 |
R9321:Enpp5
|
UTSW |
17 |
44,393,689 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
Posted On |
2015-04-16 |