Incidental Mutation 'R7394:Enpp5'
ID |
573692 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp5
|
Ensembl Gene |
ENSMUSG00000023960 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
Synonyms |
D17Abb1e |
MMRRC Submission |
045476-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7394 (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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (66/67) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
G |
10: 100,445,038 (GRCm39) |
I208V |
probably benign |
Het |
Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,338,321 (GRCm39) |
I646F |
probably damaging |
Het |
Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
Ank2 |
T |
A |
3: 126,730,302 (GRCm39) |
I711L |
possibly damaging |
Het |
Ankrd6 |
T |
C |
4: 32,821,298 (GRCm39) |
N251D |
probably damaging |
Het |
Ap3m1 |
T |
C |
14: 21,088,147 (GRCm39) |
T304A |
probably benign |
Het |
Arhgef39 |
T |
C |
4: 43,499,532 (GRCm39) |
T26A |
possibly damaging |
Het |
Carnmt1 |
G |
T |
19: 18,648,201 (GRCm39) |
|
probably benign |
Het |
Ccr4 |
C |
T |
9: 114,320,994 (GRCm39) |
R357H |
probably benign |
Het |
Cd4 |
T |
A |
6: 124,850,004 (GRCm39) |
M104L |
probably benign |
Het |
Cd74 |
A |
T |
18: 60,936,965 (GRCm39) |
|
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,002,878 (GRCm39) |
Y731C |
probably damaging |
Het |
Cdyl2 |
A |
G |
8: 117,350,790 (GRCm39) |
S114P |
not run |
Het |
Cenpv |
T |
C |
11: 62,427,114 (GRCm39) |
D148G |
probably damaging |
Het |
Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
Cfap57 |
T |
A |
4: 118,450,334 (GRCm39) |
Y596F |
probably benign |
Het |
Clec4a2 |
C |
A |
6: 123,116,079 (GRCm39) |
A122E |
unknown |
Het |
Col4a2 |
A |
G |
8: 11,496,184 (GRCm39) |
T1602A |
probably benign |
Het |
Cracd |
GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GCGCGAGGCCGAGAGGCAGG |
5: 77,004,801 (GRCm39) |
|
probably benign |
Het |
Cyp2j11 |
A |
T |
4: 96,204,677 (GRCm39) |
Y290N |
probably benign |
Het |
Dhx38 |
A |
T |
8: 110,283,155 (GRCm39) |
V554E |
probably damaging |
Het |
Ebf2 |
T |
C |
14: 67,474,975 (GRCm39) |
V70A |
probably damaging |
Het |
Fam217a |
A |
T |
13: 35,094,262 (GRCm39) |
I499K |
possibly damaging |
Het |
Fras1 |
C |
A |
5: 96,860,309 (GRCm39) |
Y2118* |
probably null |
Het |
Gm3248 |
A |
T |
14: 5,945,781 (GRCm38) |
|
probably null |
Het |
Gm5460 |
T |
G |
14: 33,765,879 (GRCm39) |
D165E |
possibly damaging |
Het |
Grk4 |
A |
T |
5: 34,908,962 (GRCm39) |
N490Y |
probably benign |
Het |
Iglc2 |
T |
A |
16: 19,013,886 (GRCm39) |
K59* |
probably null |
Het |
Iqsec3 |
T |
A |
6: 121,363,569 (GRCm39) |
H895L |
possibly damaging |
Het |
Itgb7 |
A |
G |
15: 102,127,689 (GRCm39) |
S410P |
probably damaging |
Het |
Kmt2d |
C |
A |
15: 98,754,265 (GRCm39) |
V1613F |
unknown |
Het |
Lama1 |
T |
C |
17: 68,024,256 (GRCm39) |
L118P |
|
Het |
Lrrc25 |
A |
T |
8: 71,070,830 (GRCm39) |
S204C |
possibly damaging |
Het |
Malrd1 |
A |
G |
2: 15,700,010 (GRCm39) |
D619G |
unknown |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Mup17 |
G |
A |
4: 61,512,635 (GRCm39) |
S86F |
probably benign |
Het |
Nbeal2 |
C |
T |
9: 110,459,257 (GRCm39) |
|
probably null |
Het |
Nfkb1 |
A |
C |
3: 135,319,458 (GRCm39) |
V291G |
possibly damaging |
Het |
Nomo1 |
G |
T |
7: 45,715,903 (GRCm39) |
V757F |
probably benign |
Het |
Nutm2 |
T |
A |
13: 50,624,043 (GRCm39) |
S247T |
probably damaging |
Het |
Or2at1 |
C |
A |
7: 99,416,553 (GRCm39) |
H61Q |
probably damaging |
Het |
Or4c120 |
C |
T |
2: 89,000,705 (GRCm39) |
V284I |
probably benign |
Het |
Or4f4-ps1 |
G |
T |
2: 111,330,241 (GRCm39) |
A215S |
probably damaging |
Het |
Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
Or9k2b |
T |
A |
10: 130,016,123 (GRCm39) |
I209F |
probably damaging |
Het |
Pcdhb14 |
A |
G |
18: 37,581,961 (GRCm39) |
I356V |
probably benign |
Het |
Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
Ppia |
T |
C |
11: 6,369,218 (GRCm39) |
S99P |
possibly damaging |
Het |
Prss47 |
C |
T |
13: 65,192,807 (GRCm39) |
V325I |
probably benign |
Het |
Ptgr3 |
C |
T |
18: 84,106,315 (GRCm39) |
A9V |
probably benign |
Het |
Ptk7 |
T |
C |
17: 46,902,683 (GRCm39) |
D34G |
probably damaging |
Het |
Pwp2 |
C |
T |
10: 78,018,314 (GRCm39) |
G126R |
probably damaging |
Het |
Rasa3 |
G |
T |
8: 13,645,353 (GRCm39) |
D195E |
probably benign |
Het |
Rnf150 |
T |
A |
8: 83,717,100 (GRCm39) |
Y202* |
probably null |
Het |
Sh2d1b2 |
T |
C |
1: 170,075,716 (GRCm39) |
V50A |
probably damaging |
Het |
Slc30a4 |
C |
T |
2: 122,527,224 (GRCm39) |
V390I |
possibly damaging |
Het |
Slc30a9 |
G |
T |
5: 67,510,109 (GRCm39) |
|
probably null |
Het |
Slc8a3 |
T |
A |
12: 81,260,832 (GRCm39) |
|
probably null |
Het |
Smpd3 |
G |
A |
8: 106,991,642 (GRCm39) |
R304W |
probably damaging |
Het |
Snta1 |
A |
G |
2: 154,218,780 (GRCm39) |
S490P |
probably damaging |
Het |
Srcap |
T |
G |
7: 127,134,000 (GRCm39) |
M887R |
probably damaging |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Sult2a3 |
T |
C |
7: 13,845,449 (GRCm39) |
T137A |
probably benign |
Het |
Tspoap1 |
C |
T |
11: 87,656,945 (GRCm39) |
Q367* |
probably null |
Het |
Uroc1 |
C |
T |
6: 90,322,315 (GRCm39) |
R280C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,643,613 (GRCm39) |
I4325T |
possibly damaging |
Het |
Vmn1r32 |
A |
G |
6: 66,530,173 (GRCm39) |
I201T |
probably benign |
Het |
Zbtb47 |
T |
A |
9: 121,596,411 (GRCm39) |
M626K |
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 |
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 |
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 |
2019-09-13 |