Incidental Mutation 'R6463:Enpp5'
ID |
517710 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp5
|
Ensembl Gene |
ENSMUSG00000023960 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
Synonyms |
D17Abb1e |
MMRRC Submission |
045324-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6463 (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: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
Validation Efficiency |
100% (51/51) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700009N14Rik |
A |
T |
4: 39,450,938 (GRCm39) |
H48L |
probably damaging |
Het |
Aifm3 |
A |
G |
16: 17,318,653 (GRCm39) |
I185V |
probably benign |
Het |
Asb7 |
A |
T |
7: 66,309,984 (GRCm39) |
D77E |
probably damaging |
Het |
Cacna1i |
T |
C |
15: 80,239,959 (GRCm39) |
I336T |
probably damaging |
Het |
Cadps2 |
A |
T |
6: 23,323,333 (GRCm39) |
L1016* |
probably null |
Het |
Cep63 |
C |
A |
9: 102,473,354 (GRCm39) |
M504I |
probably benign |
Het |
Chpf2 |
G |
T |
5: 24,794,524 (GRCm39) |
L231F |
probably damaging |
Het |
Cnot10 |
T |
C |
9: 114,454,970 (GRCm39) |
Y221C |
probably damaging |
Het |
Col3a1 |
G |
A |
1: 45,381,365 (GRCm39) |
|
probably benign |
Het |
Csl |
T |
C |
10: 99,594,960 (GRCm39) |
D35G |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 47,539,875 (GRCm39) |
Y2286C |
probably damaging |
Het |
Dbt |
A |
G |
3: 116,333,409 (GRCm39) |
E293G |
possibly damaging |
Het |
Ddx31 |
T |
A |
2: 28,737,525 (GRCm39) |
|
probably null |
Het |
Dnm1 |
T |
C |
2: 32,199,603 (GRCm39) |
|
probably benign |
Het |
Elfn1 |
A |
G |
5: 139,958,040 (GRCm39) |
Y348C |
probably damaging |
Het |
Epha5 |
T |
A |
5: 84,254,569 (GRCm39) |
I657F |
probably damaging |
Het |
Fbp1 |
A |
G |
13: 63,012,824 (GRCm39) |
F123S |
possibly damaging |
Het |
Hkdc1 |
T |
C |
10: 62,229,481 (GRCm39) |
N732S |
probably damaging |
Het |
Itfg1 |
A |
G |
8: 86,462,780 (GRCm39) |
S448P |
probably benign |
Het |
Itprid1 |
A |
G |
6: 55,945,663 (GRCm39) |
R795G |
probably benign |
Het |
Izumo2 |
A |
G |
7: 44,358,498 (GRCm39) |
K84R |
probably benign |
Het |
Kbtbd3 |
A |
G |
9: 4,316,921 (GRCm39) |
Y24C |
probably benign |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,773,308 (GRCm39) |
L5489P |
probably damaging |
Het |
Mettl2 |
G |
A |
11: 105,023,407 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,231,752 (GRCm39) |
T651A |
probably benign |
Het |
Naglu |
A |
G |
11: 100,968,177 (GRCm39) |
|
probably null |
Het |
Nkx6-1 |
G |
T |
5: 101,807,342 (GRCm39) |
H347N |
probably damaging |
Het |
Ntpcr |
A |
G |
8: 126,462,843 (GRCm39) |
E20G |
probably benign |
Het |
Oas2 |
T |
C |
5: 120,873,046 (GRCm39) |
R670G |
probably null |
Het |
Or10h1 |
G |
A |
17: 33,418,612 (GRCm39) |
V197I |
probably benign |
Het |
Or2ag16 |
C |
G |
7: 106,352,008 (GRCm39) |
E196Q |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,462 (GRCm39) |
I160V |
probably benign |
Het |
Phldb2 |
A |
C |
16: 45,595,356 (GRCm39) |
V902G |
probably benign |
Het |
Rdh7 |
T |
C |
10: 127,721,650 (GRCm39) |
R209G |
probably benign |
Het |
Slc13a3 |
A |
C |
2: 165,287,573 (GRCm39) |
L127R |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,434,014 (GRCm39) |
I275F |
possibly damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Tmx4 |
T |
C |
2: 134,462,559 (GRCm39) |
Y124C |
probably damaging |
Het |
Trh |
A |
T |
6: 92,219,824 (GRCm39) |
M164K |
possibly damaging |
Het |
Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
Ttll7 |
G |
A |
3: 146,637,337 (GRCm39) |
R490Q |
possibly damaging |
Het |
Uck1 |
T |
C |
2: 32,148,667 (GRCm39) |
N100S |
probably benign |
Het |
Ucp3 |
A |
T |
7: 100,129,476 (GRCm39) |
T104S |
probably benign |
Het |
Vmn2r28 |
T |
A |
7: 5,489,435 (GRCm39) |
H468L |
probably benign |
Het |
Xaf1 |
G |
A |
11: 72,199,464 (GRCm39) |
R67H |
probably benign |
Het |
Ypel4 |
T |
C |
2: 84,567,087 (GRCm39) |
|
probably benign |
Het |
Zfp687 |
A |
G |
3: 94,918,095 (GRCm39) |
I559T |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- ACTCTGTGTGTAAGGAATTGGC -3'
Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTTGGGAGTTGCTGAACTGAGAAG -3'
|
Posted On |
2018-05-21 |