Incidental Mutation 'R7411:Enpp5'
| ID |
575111 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| MMRRC Submission |
045492-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7411 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
44389704-44397458 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44392366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 265
(D265G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024756
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024756]
[ENSMUST00000126032]
[ENSMUST00000154166]
|
| AlphaFold |
Q9EQG7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024756
AA Change: D265G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024756
Gene: ENSMUSG00000023960
AA Change: D265G
| 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: D265G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122767
Gene: ENSMUSG00000023960
AA Change: D265G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,241 (GRCm39) |
T276I |
possibly damaging |
Het |
| Abca17 |
A |
G |
17: 24,547,543 (GRCm39) |
I277T |
possibly damaging |
Het |
| Abcb11 |
C |
T |
2: 69,134,280 (GRCm39) |
|
probably null |
Het |
| Abcc12 |
C |
A |
8: 87,287,479 (GRCm39) |
R122L |
possibly damaging |
Het |
| Abcc8 |
A |
G |
7: 45,815,341 (GRCm39) |
|
probably null |
Het |
| Adam28 |
C |
T |
14: 68,864,396 (GRCm39) |
R469K |
probably damaging |
Het |
| Adamts18 |
T |
C |
8: 114,504,362 (GRCm39) |
Y243C |
probably damaging |
Het |
| Agbl3 |
T |
C |
6: 34,791,754 (GRCm39) |
S619P |
probably damaging |
Het |
| Alpk3 |
A |
T |
7: 80,742,600 (GRCm39) |
T806S |
probably benign |
Het |
| Armh3 |
A |
C |
19: 45,953,874 (GRCm39) |
V170G |
probably benign |
Het |
| Atoh1 |
T |
A |
6: 64,706,914 (GRCm39) |
I203N |
probably damaging |
Het |
| Cables1 |
A |
G |
18: 11,973,572 (GRCm39) |
E237G |
probably benign |
Het |
| Cacna1d |
A |
G |
14: 30,074,947 (GRCm39) |
M1T |
probably null |
Het |
| Ccdc91 |
C |
T |
6: 147,493,696 (GRCm39) |
Q363* |
probably null |
Het |
| Cdhr17 |
A |
T |
5: 17,029,763 (GRCm39) |
T500S |
possibly damaging |
Het |
| Ceacam5 |
T |
A |
7: 17,484,678 (GRCm39) |
D473E |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,704,617 (GRCm39) |
D2821V |
unknown |
Het |
| Clca3a2 |
A |
G |
3: 144,507,860 (GRCm39) |
S737P |
probably damaging |
Het |
| Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
| Dnai3 |
A |
G |
3: 145,802,900 (GRCm39) |
V97A |
probably damaging |
Het |
| Dstyk |
G |
A |
1: 132,345,404 (GRCm39) |
G21S |
probably benign |
Het |
| Efcab3 |
T |
G |
11: 104,890,549 (GRCm39) |
N4210K |
probably benign |
Het |
| Gabrb1 |
T |
C |
5: 72,279,538 (GRCm39) |
|
probably null |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Guk1 |
A |
G |
11: 59,076,811 (GRCm39) |
F91L |
|
Het |
| Ints1 |
C |
T |
5: 139,750,015 (GRCm39) |
E961K |
possibly damaging |
Het |
| Irx2 |
T |
A |
13: 72,777,182 (GRCm39) |
M1K |
probably null |
Het |
| Jrk |
C |
T |
15: 74,579,048 (GRCm39) |
R79H |
possibly damaging |
Het |
| Kcnu1 |
G |
T |
8: 26,382,116 (GRCm39) |
V489L |
probably damaging |
Het |
| Kctd7 |
C |
T |
5: 130,181,265 (GRCm39) |
T209M |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,403,776 (GRCm39) |
V1127E |
probably damaging |
Het |
| Klk6 |
A |
G |
7: 43,476,367 (GRCm39) |
H69R |
probably damaging |
Het |
| Lck |
T |
C |
4: 129,445,763 (GRCm39) |
K340R |
probably benign |
Het |
| Lrrc75a |
A |
G |
11: 62,496,734 (GRCm39) |
L276P |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,527,667 (GRCm39) |
W730R |
probably damaging |
Het |
| Muc4 |
T |
C |
16: 32,570,140 (GRCm39) |
V400A |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Myt1 |
C |
A |
2: 181,456,899 (GRCm39) |
H906Q |
probably damaging |
Het |
| Ncl |
A |
T |
1: 86,278,564 (GRCm39) |
F673I |
probably damaging |
Het |
| Nfe2l1 |
G |
T |
11: 96,713,009 (GRCm39) |
T216N |
probably benign |
Het |
| Nos2 |
G |
A |
11: 78,835,681 (GRCm39) |
|
probably null |
Het |
| Nphp4 |
T |
A |
4: 152,639,174 (GRCm39) |
I935N |
probably benign |
Het |
| Ntn1 |
G |
A |
11: 68,276,915 (GRCm39) |
A11V |
probably benign |
Het |
| Or2t26 |
A |
T |
11: 49,039,821 (GRCm39) |
M246L |
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,605 (GRCm39) |
V145A |
probably damaging |
Het |
| Pate11 |
T |
C |
9: 36,386,980 (GRCm39) |
V16A |
possibly damaging |
Het |
| Pcdha12 |
A |
G |
18: 37,154,661 (GRCm39) |
Y460C |
probably damaging |
Het |
| Pcdha4 |
G |
T |
18: 37,086,111 (GRCm39) |
R98L |
probably benign |
Het |
| Pitpnc1 |
A |
G |
11: 107,103,398 (GRCm39) |
S234P |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,240,503 (GRCm39) |
Y195F |
probably damaging |
Het |
| Prl6a1 |
T |
C |
13: 27,502,125 (GRCm39) |
I164T |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,511,273 (GRCm39) |
|
probably null |
Het |
| Rhbdl2 |
G |
A |
4: 123,723,435 (GRCm39) |
A280T |
possibly damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Sema3a |
T |
G |
5: 13,566,230 (GRCm39) |
Y171* |
probably null |
Het |
| Set |
A |
G |
2: 29,956,897 (GRCm39) |
E22G |
probably benign |
Het |
| Sirpb1b |
A |
T |
3: 15,608,057 (GRCm39) |
D229E |
probably benign |
Het |
| Slc12a2 |
A |
T |
18: 58,074,085 (GRCm39) |
I1096F |
probably benign |
Het |
| Slc30a5 |
T |
C |
13: 100,954,688 (GRCm39) |
I159V |
probably benign |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
| Slc6a20b |
A |
G |
9: 123,434,013 (GRCm39) |
I275T |
probably benign |
Het |
| Speer1e |
T |
A |
5: 11,233,116 (GRCm39) |
|
probably null |
Het |
| Stradb |
A |
C |
1: 59,027,677 (GRCm39) |
D69A |
possibly damaging |
Het |
| Supt16 |
A |
T |
14: 52,415,508 (GRCm39) |
V409E |
probably damaging |
Het |
| Tcea2 |
A |
G |
2: 181,328,457 (GRCm39) |
N195S |
probably damaging |
Het |
| Thumpd3 |
T |
C |
6: 113,033,072 (GRCm39) |
V270A |
possibly damaging |
Het |
| Urgcp |
T |
A |
11: 5,668,116 (GRCm39) |
H117L |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,879,283 (GRCm39) |
M3408K |
probably damaging |
Het |
| Wdfy4 |
A |
C |
14: 32,828,088 (GRCm39) |
M1078R |
|
Het |
| Ypel5 |
G |
A |
17: 73,153,439 (GRCm39) |
|
probably null |
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 |
|
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'- TTCTGATGTTGACCACAAGTTAGG -3'
(R):5'- CACAGCCCCTAAAGTGTCAG -3'
Sequencing Primer
(F):5'- TGACCACAAGTTAGGGTATCTG -3'
(R):5'- AGCCCCTAAAGTGTCAGTATTTCCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation