Incidental Mutation 'R1923:Enpp6'
ID |
213221 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp6
|
Ensembl Gene |
ENSMUSG00000038173 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 6 |
Synonyms |
B830047L21Rik, 4833421B01Rik, D8Ertd514e, Npp6 |
MMRRC Submission |
039941-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.150)
|
Stock # |
R1923 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
47439922-47549797 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 47535541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 362
(D362V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039840]
[ENSMUST00000119686]
[ENSMUST00000123066]
|
AlphaFold |
Q8BGN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039840
AA Change: D362V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000044608 Gene: ENSMUSG00000038173 AA Change: D362V
Domain | Start | End | E-Value | Type |
Pfam:Phosphodiest
|
26 |
357 |
1.3e-79 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119686
AA Change: D362V
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112633 Gene: ENSMUSG00000038173 AA Change: D362V
Domain | Start | End | E-Value | Type |
Pfam:Phosphodiest
|
26 |
357 |
1.1e-76 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123066
|
Predicted Effect |
unknown
Transcript: ENSMUST00000149593
AA Change: D62V
|
SMART Domains |
Protein: ENSMUSP00000121470 Gene: ENSMUSG00000038173 AA Change: D62V
Domain | Start | End | E-Value | Type |
PDB:4LR2|A
|
2 |
74 |
2e-10 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210466
|
Meta Mutation Damage Score |
0.3566 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
Validation Efficiency |
98% (52/53) |
MGI Phenotype |
FUNCTION: This gene encodes a member of the nucleotide pyrophosphatase/phosphodiesterase family of enzymes that play an important role in regulating extracellular nucleotide metabolism. The encoded preproprotein undergoes proteolytic processing to generate a glycosylphosphatidylinositol (GPI)-anchored membrane protein that hydrolyzes choline-containing lysophospholipids such as glycerophosphocholine. Mice lacking the encoded protein develop fatty liver and myelin sheath abnormalities. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
Ap5z1 |
A |
G |
5: 142,458,096 (GRCm39) |
H423R |
probably benign |
Het |
Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
Gm11595 |
A |
T |
11: 99,663,365 (GRCm39) |
V105E |
unknown |
Het |
Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
Stox2 |
G |
T |
8: 47,646,661 (GRCm39) |
F266L |
probably damaging |
Het |
Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
Tmc7 |
A |
G |
7: 118,144,850 (GRCm39) |
F570S |
probably benign |
Het |
Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
Xpo4 |
A |
T |
14: 57,828,328 (GRCm39) |
V844D |
probably damaging |
Het |
Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
probably damaging |
Het |
|
Other mutations in Enpp6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02215:Enpp6
|
APN |
8 |
47,518,967 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02882:Enpp6
|
APN |
8 |
47,483,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R0025:Enpp6
|
UTSW |
8 |
47,519,035 (GRCm39) |
missense |
probably damaging |
0.99 |
R0025:Enpp6
|
UTSW |
8 |
47,519,035 (GRCm39) |
missense |
probably damaging |
0.99 |
R0331:Enpp6
|
UTSW |
8 |
47,535,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Enpp6
|
UTSW |
8 |
47,535,478 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1168:Enpp6
|
UTSW |
8 |
47,483,489 (GRCm39) |
missense |
probably damaging |
0.96 |
R1295:Enpp6
|
UTSW |
8 |
47,518,535 (GRCm39) |
missense |
probably benign |
0.00 |
R1533:Enpp6
|
UTSW |
8 |
47,518,469 (GRCm39) |
missense |
probably benign |
0.02 |
R2031:Enpp6
|
UTSW |
8 |
47,506,649 (GRCm39) |
missense |
probably damaging |
0.99 |
R2090:Enpp6
|
UTSW |
8 |
47,518,405 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2656:Enpp6
|
UTSW |
8 |
47,535,453 (GRCm39) |
nonsense |
probably null |
|
R3620:Enpp6
|
UTSW |
8 |
47,518,540 (GRCm39) |
missense |
probably benign |
0.03 |
R3621:Enpp6
|
UTSW |
8 |
47,518,540 (GRCm39) |
missense |
probably benign |
0.03 |
R3862:Enpp6
|
UTSW |
8 |
47,519,027 (GRCm39) |
missense |
probably benign |
0.33 |
R4284:Enpp6
|
UTSW |
8 |
47,522,050 (GRCm39) |
missense |
probably damaging |
1.00 |
R4592:Enpp6
|
UTSW |
8 |
47,546,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R4899:Enpp6
|
UTSW |
8 |
47,440,118 (GRCm39) |
missense |
probably damaging |
1.00 |
R4963:Enpp6
|
UTSW |
8 |
47,518,496 (GRCm39) |
missense |
probably benign |
0.30 |
R5201:Enpp6
|
UTSW |
8 |
47,518,486 (GRCm39) |
missense |
probably damaging |
0.99 |
R5322:Enpp6
|
UTSW |
8 |
47,521,950 (GRCm39) |
missense |
probably benign |
0.06 |
R5933:Enpp6
|
UTSW |
8 |
47,519,039 (GRCm39) |
missense |
probably benign |
0.22 |
R8783:Enpp6
|
UTSW |
8 |
47,440,220 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9372:Enpp6
|
UTSW |
8 |
47,506,627 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9447:Enpp6
|
UTSW |
8 |
47,483,600 (GRCm39) |
missense |
probably damaging |
0.97 |
R9710:Enpp6
|
UTSW |
8 |
47,518,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCCTGCAGTCAGTGTTTTC -3'
(R):5'- ATCGTGTCAACCTTGAGACTC -3'
Sequencing Primer
(F):5'- GCAGTCAGTGTTTTCCCAGAAGC -3'
(R):5'- TTGAGACTCACAGCTGTCAG -3'
|
Posted On |
2014-07-14 |