Incidental Mutation 'R7169:Enpp5'
ID |
558153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp5
|
Ensembl Gene |
ENSMUSG00000023960 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
Synonyms |
D17Abb1e |
MMRRC Submission |
045229-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7169 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,040,707 (GRCm39) |
V870A |
probably damaging |
Het |
Ahi1 |
T |
G |
10: 20,930,918 (GRCm39) |
D919E |
probably damaging |
Het |
Angptl6 |
T |
A |
9: 20,786,475 (GRCm39) |
R390S |
probably damaging |
Het |
Arhgef11 |
A |
G |
3: 87,634,755 (GRCm39) |
I873V |
possibly damaging |
Het |
BC024063 |
T |
C |
10: 81,946,293 (GRCm39) |
Y638H |
possibly damaging |
Het |
Brsk1 |
T |
C |
7: 4,718,403 (GRCm39) |
S751P |
probably benign |
Het |
Calhm5 |
T |
A |
10: 33,968,160 (GRCm39) |
T298S |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 104,875,078 (GRCm39) |
A287T |
possibly damaging |
Het |
Clic3 |
G |
A |
2: 25,348,731 (GRCm39) |
R237H |
probably benign |
Het |
Cog6 |
G |
T |
3: 52,897,387 (GRCm39) |
P562H |
possibly damaging |
Het |
Csnk2a2 |
A |
G |
8: 96,215,006 (GRCm39) |
Y24H |
|
Het |
Ctif |
T |
C |
18: 75,605,087 (GRCm39) |
D484G |
probably damaging |
Het |
Cyria |
A |
G |
12: 12,409,233 (GRCm39) |
D71G |
possibly damaging |
Het |
Dennd6b |
A |
T |
15: 89,073,055 (GRCm39) |
F161I |
possibly damaging |
Het |
Dnah14 |
G |
T |
1: 181,529,930 (GRCm39) |
V2235L |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,015,729 (GRCm39) |
V3636D |
probably damaging |
Het |
Dpm1 |
A |
T |
2: 168,053,343 (GRCm39) |
Y207* |
probably null |
Het |
Eml3 |
A |
G |
19: 8,910,828 (GRCm39) |
T227A |
probably damaging |
Het |
Eppk1 |
C |
A |
15: 75,990,114 (GRCm39) |
A2256S |
probably benign |
Het |
Etnppl |
A |
T |
3: 130,414,345 (GRCm39) |
N80I |
probably damaging |
Het |
Eya4 |
A |
T |
10: 23,031,845 (GRCm39) |
N236K |
probably benign |
Het |
Gm12886 |
T |
G |
4: 121,273,948 (GRCm39) |
Q89H |
probably damaging |
Het |
Gsdme |
T |
C |
6: 50,204,358 (GRCm39) |
T200A |
probably benign |
Het |
Hipk1 |
C |
T |
3: 103,651,533 (GRCm39) |
A1122T |
probably benign |
Het |
Icos |
A |
G |
1: 61,034,705 (GRCm39) |
D176G |
probably damaging |
Het |
Igkv5-43 |
T |
A |
6: 69,800,519 (GRCm39) |
Y56F |
probably damaging |
Het |
Il1r1 |
T |
C |
1: 40,332,519 (GRCm39) |
|
probably null |
Het |
Ildr2 |
G |
A |
1: 166,135,503 (GRCm39) |
|
probably null |
Het |
Ilf3 |
T |
A |
9: 21,306,722 (GRCm39) |
H305Q |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,715,901 (GRCm39) |
H532R |
probably benign |
Het |
Lmbr1l |
CACTACATACTACATACTACATACTACATACTACATACTACATAC |
CACTACATACTACATACTACATACTACATACTACATACTACATACTACATAC |
15: 98,807,039 (GRCm39) |
|
probably null |
Het |
Lmbr1l |
ACTACAT |
ACTACATGCTACAT |
15: 98,807,075 (GRCm39) |
|
probably benign |
Het |
Lratd1 |
A |
G |
12: 14,200,619 (GRCm39) |
F36S |
probably damaging |
Het |
Lrrc25 |
T |
G |
8: 71,070,437 (GRCm39) |
S73A |
probably benign |
Het |
Lrrn1 |
T |
C |
6: 107,544,565 (GRCm39) |
L121P |
probably damaging |
Het |
Ly6c1 |
C |
A |
15: 74,916,495 (GRCm39) |
V116L |
probably benign |
Het |
Meltf |
A |
G |
16: 31,698,980 (GRCm39) |
D30G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,548,836 (GRCm39) |
D1009V |
probably damaging |
Het |
Mybpc3 |
T |
C |
2: 90,948,524 (GRCm39) |
V4A |
possibly damaging |
Het |
Mycbp2 |
A |
G |
14: 103,497,636 (GRCm39) |
S979P |
possibly damaging |
Het |
Ntn5 |
C |
T |
7: 45,336,198 (GRCm39) |
R210* |
probably null |
Het |
Nuak1 |
T |
C |
10: 84,210,609 (GRCm39) |
D493G |
probably damaging |
Het |
Oprk1 |
T |
A |
1: 5,659,304 (GRCm39) |
D11E |
probably benign |
Het |
Or13a1 |
G |
T |
6: 116,471,025 (GRCm39) |
A152S |
probably benign |
Het |
Or4f14 |
A |
G |
2: 111,742,939 (GRCm39) |
M112T |
possibly damaging |
Het |
Or4k37 |
T |
A |
2: 111,158,943 (GRCm39) |
Y60N |
probably damaging |
Het |
Or56a41 |
T |
C |
7: 104,740,397 (GRCm39) |
I150V |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,767,574 (GRCm39) |
T1239S |
possibly damaging |
Het |
Pkm |
A |
G |
9: 59,578,908 (GRCm39) |
D296G |
possibly damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pop5 |
T |
A |
5: 115,378,287 (GRCm39) |
V77E |
possibly damaging |
Het |
Ppp1r10 |
T |
C |
17: 36,240,365 (GRCm39) |
S552P |
probably damaging |
Het |
Rabggta |
C |
G |
14: 55,958,358 (GRCm39) |
R101P |
probably damaging |
Het |
Rorc |
A |
T |
3: 94,296,487 (GRCm39) |
E243V |
probably benign |
Het |
Setmar |
C |
A |
6: 108,042,049 (GRCm39) |
A3E |
possibly damaging |
Het |
Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
Slc12a7 |
G |
A |
13: 73,932,679 (GRCm39) |
V56M |
probably benign |
Het |
Snph |
T |
A |
2: 151,436,307 (GRCm39) |
N207I |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,280,362 (GRCm39) |
V531A |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tlr3 |
A |
T |
8: 45,850,056 (GRCm39) |
M871K |
probably damaging |
Het |
Tnfrsf11a |
A |
T |
1: 105,772,421 (GRCm39) |
R569S |
possibly damaging |
Het |
Trim66 |
A |
G |
7: 109,054,328 (GRCm39) |
V1294A |
probably benign |
Het |
Vldlr |
G |
A |
19: 27,221,728 (GRCm39) |
V698I |
probably benign |
Het |
Vmn2r73 |
G |
A |
7: 85,507,663 (GRCm39) |
Q550* |
probably null |
Het |
Zdhhc5 |
A |
T |
2: 84,532,675 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
T |
A |
8: 109,678,030 (GRCm39) |
Y3027N |
possibly damaging |
Het |
Zfp663 |
C |
T |
2: 165,194,359 (GRCm39) |
S620N |
probably benign |
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 |
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 |
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'- ACTCTGTGTGTAAGGAATTGGC -3'
Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTTGGGAGTTGCTGAACTGAGAAG -3'
|
Posted On |
2019-06-26 |