Incidental Mutation 'R7590:Enpp5'
ID |
587381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp5
|
Ensembl Gene |
ENSMUSG00000023960 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
Synonyms |
D17Abb1e |
MMRRC Submission |
045669-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7590 (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: 99.1%
|
Validation Efficiency |
98% (48/49) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
A |
11: 109,829,341 (GRCm39) |
T1373S |
probably damaging |
Het |
Bbox1 |
A |
T |
2: 110,098,577 (GRCm39) |
N333K |
probably benign |
Het |
Bcl11b |
T |
A |
12: 107,969,402 (GRCm39) |
M1L |
probably benign |
Het |
C1s2 |
T |
A |
6: 124,609,087 (GRCm39) |
I157F |
probably damaging |
Het |
Casp1 |
T |
A |
9: 5,306,710 (GRCm39) |
M384K |
probably damaging |
Het |
Chpt1 |
A |
G |
10: 88,316,688 (GRCm39) |
S257P |
probably damaging |
Het |
Dennd4a |
G |
A |
9: 64,795,869 (GRCm39) |
G731D |
probably benign |
Het |
Dlk2 |
A |
T |
17: 46,609,609 (GRCm39) |
S21C |
probably benign |
Het |
Ell2 |
T |
C |
13: 75,918,854 (GRCm39) |
L620P |
probably damaging |
Het |
Fip1l1 |
T |
C |
5: 74,752,435 (GRCm39) |
V414A |
probably benign |
Het |
Fmo1 |
T |
A |
1: 162,687,251 (GRCm39) |
|
probably benign |
Het |
Fyb2 |
A |
G |
4: 104,802,443 (GRCm39) |
N115S |
probably benign |
Het |
Gdi2 |
A |
G |
13: 3,614,611 (GRCm39) |
T319A |
probably benign |
Het |
Hecw1 |
A |
G |
13: 14,438,668 (GRCm39) |
V905A |
probably damaging |
Het |
Ireb2 |
T |
A |
9: 54,803,779 (GRCm39) |
V490D |
probably benign |
Het |
Itprid2 |
G |
T |
2: 79,488,454 (GRCm39) |
V846F |
possibly damaging |
Het |
Lbr |
A |
G |
1: 181,649,076 (GRCm39) |
S348P |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,409,330 (GRCm39) |
D191E |
possibly damaging |
Het |
Mlip |
A |
T |
9: 77,137,325 (GRCm39) |
D527E |
probably benign |
Het |
Myom2 |
A |
G |
8: 15,167,679 (GRCm39) |
Y1088C |
probably damaging |
Het |
Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
Nckap5 |
G |
T |
1: 125,954,270 (GRCm39) |
Q761K |
probably benign |
Het |
Neb |
A |
T |
2: 52,133,854 (GRCm39) |
D3376E |
probably damaging |
Het |
Nek10 |
A |
G |
14: 15,006,693 (GRCm38) |
*1116W |
probably null |
Het |
Or2t43 |
T |
C |
11: 58,458,085 (GRCm39) |
I29V |
probably benign |
Het |
Or52d3 |
T |
C |
7: 104,229,149 (GRCm39) |
S99P |
probably damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,386 (GRCm39) |
H95L |
probably benign |
Het |
Pak2 |
A |
T |
16: 31,871,014 (GRCm39) |
I56K |
probably benign |
Het |
Pgm5 |
T |
C |
19: 24,686,629 (GRCm39) |
Y526C |
probably damaging |
Het |
Phc2 |
T |
A |
4: 128,641,820 (GRCm39) |
L714H |
probably damaging |
Het |
Phf13 |
A |
T |
4: 152,076,232 (GRCm39) |
D223E |
probably damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
Psmd6 |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC |
14: 14,119,882 (GRCm38) |
|
probably null |
Het |
Rbm6 |
A |
T |
9: 107,668,949 (GRCm39) |
|
probably null |
Het |
Scn10a |
A |
G |
9: 119,495,466 (GRCm39) |
M352T |
probably damaging |
Het |
Sh3d19 |
G |
A |
3: 86,022,213 (GRCm39) |
V548I |
possibly damaging |
Het |
Slc13a4 |
T |
A |
6: 35,256,398 (GRCm39) |
I321F |
possibly damaging |
Het |
Spata9 |
T |
C |
13: 76,125,771 (GRCm39) |
S85P |
possibly damaging |
Het |
Speer4a2 |
G |
T |
5: 26,290,764 (GRCm39) |
H136N |
possibly damaging |
Het |
Ssb |
G |
A |
2: 69,697,634 (GRCm39) |
A122T |
probably benign |
Het |
St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
Ten1 |
T |
C |
11: 116,096,466 (GRCm39) |
L40P |
possibly damaging |
Het |
Tex10 |
A |
C |
4: 48,467,725 (GRCm39) |
V358G |
probably damaging |
Het |
Tmprss11c |
A |
T |
5: 86,387,332 (GRCm39) |
H195Q |
probably benign |
Het |
Tor4a |
A |
G |
2: 25,085,810 (GRCm39) |
V31A |
possibly damaging |
Het |
Trim29 |
G |
A |
9: 43,222,788 (GRCm39) |
A206T |
probably damaging |
Het |
Trim71 |
A |
C |
9: 114,391,893 (GRCm39) |
V98G |
probably benign |
Het |
Trpm6 |
C |
G |
19: 18,809,945 (GRCm39) |
L1114V |
probably benign |
Het |
Usp1 |
A |
G |
4: 98,822,489 (GRCm39) |
D601G |
possibly damaging |
Het |
Vmn2r18 |
T |
A |
5: 151,485,194 (GRCm39) |
I767F |
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 |
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 |
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 |
2019-10-24 |