Incidental Mutation 'R6965:Enpp5'
| ID |
541973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| MMRRC Submission |
045075-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6965 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
44078813-44086567 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44085264 bp (GRCm38)
|
| 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: 99.9%
- 10x: 99.3%
- 20x: 97.3%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
C |
T |
7: 120,283,229 (GRCm38) |
Q1205* |
probably null |
Het |
| Als2 |
A |
G |
1: 59,170,557 (GRCm38) |
F1422S |
possibly damaging |
Het |
| Anapc4 |
T |
C |
5: 52,835,751 (GRCm38) |
V68A |
possibly damaging |
Het |
| Atmin |
T |
C |
8: 116,957,038 (GRCm38) |
F479S |
probably damaging |
Het |
| Atp7b |
T |
C |
8: 22,028,085 (GRCm38) |
T234A |
probably benign |
Het |
| Bpifa1 |
G |
A |
2: 154,145,661 (GRCm38) |
G144S |
probably damaging |
Het |
| Brf2 |
A |
T |
8: 27,124,558 (GRCm38) |
M200K |
probably benign |
Het |
| C1ql2 |
G |
A |
1: 120,341,215 (GRCm38) |
C33Y |
probably damaging |
Het |
| Cdk18 |
A |
G |
1: 132,117,581 (GRCm38) |
V269A |
probably damaging |
Het |
| Clcc1 |
T |
C |
3: 108,673,309 (GRCm38) |
V313A |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,162,833 (GRCm38) |
T1117S |
probably benign |
Het |
| Col15a1 |
G |
A |
4: 47,247,533 (GRCm38) |
E236K |
probably damaging |
Het |
| Comp |
T |
C |
8: 70,376,514 (GRCm38) |
L278P |
probably damaging |
Het |
| Dlg5 |
C |
A |
14: 24,149,430 (GRCm38) |
D1469Y |
probably damaging |
Het |
| Efna1 |
A |
T |
3: 89,279,475 (GRCm38) |
V23D |
probably damaging |
Het |
| Epb41l4b |
T |
C |
4: 57,040,915 (GRCm38) |
Y516C |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,121,857 (GRCm38) |
D526G |
probably damaging |
Het |
| Fam184b |
T |
C |
5: 45,555,135 (GRCm38) |
T514A |
probably benign |
Het |
| Fcmr |
A |
C |
1: 130,875,987 (GRCm38) |
E176A |
possibly damaging |
Het |
| Fry |
T |
A |
5: 150,416,220 (GRCm38) |
N1485K |
possibly damaging |
Het |
| Fut2 |
A |
G |
7: 45,650,881 (GRCm38) |
C156R |
probably damaging |
Het |
| Gm10031 |
C |
T |
1: 156,524,549 (GRCm38) |
R107* |
probably null |
Het |
| Gm5431 |
T |
C |
11: 48,895,200 (GRCm38) |
Y116C |
probably benign |
Het |
| Gm5493 |
T |
A |
17: 22,748,074 (GRCm38) |
V61E |
possibly damaging |
Het |
| Golga4 |
A |
T |
9: 118,548,779 (GRCm38) |
Q456L |
probably damaging |
Het |
| Gpam |
T |
C |
19: 55,074,609 (GRCm38) |
Y757C |
probably damaging |
Het |
| Iqcg |
C |
T |
16: 33,030,804 (GRCm38) |
A266T |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,471,897 (GRCm38) |
G331* |
probably null |
Het |
| Macf1 |
C |
A |
4: 123,408,745 (GRCm38) |
V655F |
probably benign |
Het |
| Map3k13 |
T |
A |
16: 21,922,150 (GRCm38) |
D742E |
probably benign |
Het |
| Mrgprb2 |
G |
A |
7: 48,552,849 (GRCm38) |
L43F |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 86,844,833 (GRCm38) |
R846G |
probably damaging |
Het |
| Nbn |
T |
C |
4: 15,970,863 (GRCm38) |
I282T |
probably benign |
Het |
| Ncor1 |
C |
T |
11: 62,353,233 (GRCm38) |
|
probably null |
Het |
| Olfr1250 |
G |
T |
2: 89,656,665 (GRCm38) |
P259T |
probably damaging |
Het |
| Olfr1426 |
A |
G |
19: 12,088,756 (GRCm38) |
F12S |
possibly damaging |
Het |
| Olfr874 |
T |
A |
9: 37,746,137 (GRCm38) |
M1K |
probably null |
Het |
| Pclo |
A |
G |
5: 14,681,962 (GRCm38) |
|
probably benign |
Het |
| Pde9a |
G |
T |
17: 31,443,887 (GRCm38) |
V97L |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,525,067 (GRCm38) |
Y771C |
possibly damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,562,845 (GRCm38) |
D94N |
probably damaging |
Het |
| Rnpep |
T |
A |
1: 135,263,120 (GRCm38) |
K602* |
probably null |
Het |
| Rph3al |
T |
C |
11: 75,854,450 (GRCm38) |
Y156C |
probably damaging |
Het |
| Rundc1 |
A |
T |
11: 101,433,911 (GRCm38) |
Y481F |
possibly damaging |
Het |
| Serpinb9f |
A |
G |
13: 33,325,876 (GRCm38) |
K17R |
possibly damaging |
Het |
| Smpd3 |
T |
C |
8: 106,259,881 (GRCm38) |
H459R |
probably damaging |
Het |
| Spata31 |
A |
C |
13: 64,922,834 (GRCm38) |
Q932P |
possibly damaging |
Het |
| Srgap3 |
C |
T |
6: 112,723,129 (GRCm38) |
A963T |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,229,120 (GRCm38) |
F4451L |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,856,924 (GRCm38) |
|
probably null |
Het |
| Thap12 |
T |
A |
7: 98,715,462 (GRCm38) |
V279D |
probably damaging |
Het |
| Tmprss6 |
T |
C |
15: 78,444,128 (GRCm38) |
D544G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,323,010 (GRCm38) |
*523W |
probably null |
Het |
| Txnrd1 |
T |
C |
10: 82,881,818 (GRCm38) |
I212T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,646,566 (GRCm38) |
I2283T |
probably benign |
Het |
| Vmn1r176 |
A |
G |
7: 23,835,674 (GRCm38) |
I18T |
possibly damaging |
Het |
| Vmn2r101 |
C |
T |
17: 19,591,022 (GRCm38) |
T456I |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 87,001,892 (GRCm38) |
H166Q |
probably benign |
Het |
| Zer1 |
A |
G |
2: 30,101,047 (GRCm38) |
V723A |
possibly damaging |
Het |
|
| Other mutations in Enpp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00583:Enpp5
|
APN |
17 |
44,085,197 (GRCm38) |
splice site |
probably benign |
|
|
IGL01593:Enpp5
|
APN |
17 |
44,080,721 (GRCm38) |
missense |
probably benign |
|
|
IGL01654:Enpp5
|
APN |
17 |
44,081,175 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL02120:Enpp5
|
APN |
17 |
44,080,845 (GRCm38) |
missense |
probably benign |
0.04 |
|
IGL02142:Enpp5
|
APN |
17 |
44,085,577 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02531:Enpp5
|
APN |
17 |
44,080,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02630:Enpp5
|
APN |
17 |
44,082,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Cacao
|
UTSW |
17 |
44,085,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
canola
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1101:Enpp5
|
UTSW |
17 |
44,081,367 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2074:Enpp5
|
UTSW |
17 |
44,085,373 (GRCm38) |
missense |
probably benign |
0.25 |
|
R2679:Enpp5
|
UTSW |
17 |
44,085,388 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4739:Enpp5
|
UTSW |
17 |
44,081,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4817:Enpp5
|
UTSW |
17 |
44,080,980 (GRCm38) |
makesense |
probably null |
|
|
R5152:Enpp5
|
UTSW |
17 |
44,081,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6021:Enpp5
|
UTSW |
17 |
44,085,319 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6160:Enpp5
|
UTSW |
17 |
44,081,368 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R6330:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6385:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6387:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6452:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6454:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6461:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6462:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6463:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6469:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6470:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6471:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6473:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6505:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6563:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6564:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6760:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6812:Enpp5
|
UTSW |
17 |
44,085,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6821:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6824:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6963:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7169:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7171:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7375:Enpp5
|
UTSW |
17 |
44,080,977 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7393:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7394:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7411:Enpp5
|
UTSW |
17 |
44,081,475 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7412:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7446:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7447:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7560:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7561:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7589:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7590:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7591:Enpp5
|
UTSW |
17 |
44,085,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8211:Enpp5
|
UTSW |
17 |
44,081,511 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9256:Enpp5
|
UTSW |
17 |
44,085,523 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9321:Enpp5
|
UTSW |
17 |
44,082,798 (GRCm38) |
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 |
2018-11-28 |
Incidental Mutation