Incidental Mutation 'IGL02142:Enpp5'
| ID |
281614 |
| 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 # |
IGL02142
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
44389704-44397458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44396468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 460
(V460A)
|
| 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: V460A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: V460A
| 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: V460A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: V460A
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,963,575 (GRCm39) |
S2060P |
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,189,014 (GRCm39) |
F426S |
probably benign |
Het |
| Actn1 |
C |
T |
12: 80,222,929 (GRCm39) |
|
probably null |
Het |
| Adgrd1 |
T |
A |
5: 129,208,648 (GRCm39) |
H251Q |
probably benign |
Het |
| Adgrg3 |
C |
T |
8: 95,766,483 (GRCm39) |
P385S |
probably damaging |
Het |
| Ampd2 |
G |
T |
3: 107,987,660 (GRCm39) |
|
probably benign |
Het |
| Arhgap42 |
A |
G |
9: 9,155,360 (GRCm39) |
S86P |
probably damaging |
Het |
| Art5 |
C |
T |
7: 101,747,123 (GRCm39) |
E121K |
probably null |
Het |
| Atad5 |
G |
A |
11: 79,985,023 (GRCm39) |
E37K |
probably benign |
Het |
| Atp13a5 |
A |
G |
16: 29,053,315 (GRCm39) |
V1084A |
probably benign |
Het |
| Cfap44 |
T |
C |
16: 44,241,507 (GRCm39) |
I626T |
probably benign |
Het |
| Col16a1 |
T |
A |
4: 129,945,440 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
G |
8: 21,653,130 (GRCm39) |
C81G |
possibly damaging |
Het |
| Dnm2 |
A |
G |
9: 21,411,649 (GRCm39) |
Y622C |
probably damaging |
Het |
| Efna5 |
T |
A |
17: 62,914,340 (GRCm39) |
L201F |
unknown |
Het |
| Elac1 |
T |
C |
18: 73,871,991 (GRCm39) |
R335G |
probably benign |
Het |
| Esr2 |
A |
G |
12: 76,169,969 (GRCm39) |
V453A |
probably benign |
Het |
| Fam210b |
T |
A |
2: 172,194,497 (GRCm39) |
|
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,893 (GRCm39) |
Y305C |
probably benign |
Het |
| Fcrlb |
A |
G |
1: 170,736,248 (GRCm39) |
V176A |
probably damaging |
Het |
| Gabrq |
T |
A |
X: 71,879,783 (GRCm39) |
V256E |
possibly damaging |
Het |
| Gba1 |
T |
C |
3: 89,113,148 (GRCm39) |
L193P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Helq |
A |
G |
5: 100,930,960 (GRCm39) |
F597L |
probably benign |
Het |
| Hrh1 |
A |
T |
6: 114,457,204 (GRCm39) |
I162L |
probably damaging |
Het |
| Jph1 |
A |
T |
1: 17,161,884 (GRCm39) |
F259L |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Kdm4c |
T |
A |
4: 74,225,253 (GRCm39) |
|
probably null |
Het |
| Kif13a |
T |
C |
13: 46,925,011 (GRCm39) |
T308A |
probably benign |
Het |
| Lars1 |
C |
T |
18: 42,360,345 (GRCm39) |
V704M |
probably benign |
Het |
| Lcmt2 |
A |
G |
2: 120,969,394 (GRCm39) |
L343P |
possibly damaging |
Het |
| Lhfpl1 |
A |
G |
X: 144,123,733 (GRCm39) |
F125L |
probably benign |
Het |
| Lmbrd2 |
C |
A |
15: 9,186,772 (GRCm39) |
D582E |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Macf1 |
T |
C |
4: 123,365,842 (GRCm39) |
D1408G |
probably benign |
Het |
| Magi3 |
T |
C |
3: 103,923,219 (GRCm39) |
K1166R |
probably benign |
Het |
| Marchf5 |
T |
C |
19: 37,197,892 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
G |
A |
19: 11,087,695 (GRCm39) |
Q79* |
probably null |
Het |
| Naa25 |
A |
G |
5: 121,564,825 (GRCm39) |
Q555R |
possibly damaging |
Het |
| Npat |
A |
G |
9: 53,481,207 (GRCm39) |
T1005A |
probably benign |
Het |
| Nt5c3 |
G |
A |
6: 56,863,670 (GRCm39) |
A108V |
probably damaging |
Het |
| Ocrl |
T |
A |
X: 47,024,995 (GRCm39) |
M322K |
probably damaging |
Het |
| Odad2 |
C |
A |
18: 7,214,601 (GRCm39) |
W733C |
probably damaging |
Het |
| Or8g2 |
A |
G |
9: 39,821,935 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psg23 |
A |
T |
7: 18,344,345 (GRCm39) |
V370E |
probably benign |
Het |
| Rassf2 |
A |
T |
2: 131,838,353 (GRCm39) |
M311K |
possibly damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,025,614 (GRCm39) |
Y501H |
probably damaging |
Het |
| Rpl4 |
A |
G |
9: 64,083,488 (GRCm39) |
D179G |
possibly damaging |
Het |
| Scn2a |
T |
A |
2: 65,546,182 (GRCm39) |
I915N |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,356,965 (GRCm39) |
T160S |
possibly damaging |
Het |
| Slx4ip |
T |
G |
2: 136,909,942 (GRCm39) |
N242K |
possibly damaging |
Het |
| Spidr |
T |
A |
16: 15,865,945 (GRCm39) |
Q288L |
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,216,918 (GRCm39) |
H255L |
possibly damaging |
Het |
| Tacc1 |
C |
T |
8: 25,665,233 (GRCm39) |
G51S |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,185,900 (GRCm39) |
N1179I |
possibly damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,101,752 (GRCm39) |
Y349C |
probably damaging |
Het |
| Tnrc6a |
T |
C |
7: 122,751,414 (GRCm39) |
|
probably benign |
Het |
| Trim32 |
T |
C |
4: 65,532,736 (GRCm39) |
L431P |
probably damaging |
Het |
| Vmn1r35 |
A |
G |
6: 66,656,334 (GRCm39) |
L112S |
probably damaging |
Het |
| Vmn2r100 |
A |
C |
17: 19,742,583 (GRCm39) |
H319P |
probably damaging |
Het |
| Wdr20rt |
A |
G |
12: 65,274,039 (GRCm39) |
T328A |
probably benign |
Het |
| Zbtb17 |
T |
C |
4: 141,192,293 (GRCm39) |
Y413H |
probably benign |
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 |
|
IGL02531:Enpp5
|
APN |
17 |
44,391,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation