Incidental Mutation 'R6471:Enpp5'
| ID |
516711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| MMRRC Submission |
044604-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6471 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
44389704-44397458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44396155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 356
(G356S)
|
| 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: G356S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: G356S
| 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 damaging
Transcript: ENSMUST00000154166
AA Change: G356S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: G356S
| 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 |
|
| Meta Mutation Damage Score |
0.9168 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
| Validation Efficiency |
97% (29/30) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
| Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
| Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
| Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
| Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
| Glod4 |
A |
T |
11: 76,124,744 (GRCm39) |
F185L |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
| Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
| Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
| Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
| Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
| Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
| Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
| Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
| Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
| Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
| Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
| Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
| Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- CTGGTTTGTCACTCCCAAGG -3'
Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTCCCAAGGAGGAGTGTGGTAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation