Incidental Mutation 'R6452:Enpp5'
| ID |
519444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| MMRRC Submission |
044588-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6452 (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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
G |
13: 119,488,115 (GRCm38) |
|
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,320,005 (GRCm38) |
V296E |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,823,207 (GRCm38) |
E400K |
probably benign |
Het |
| Ccdc171 |
A |
G |
4: 83,864,290 (GRCm38) |
D1273G |
probably damaging |
Het |
| Cetn3 |
C |
T |
13: 81,784,678 (GRCm38) |
R19* |
probably null |
Het |
| Chd6 |
G |
T |
2: 160,965,498 (GRCm38) |
P1932H |
possibly damaging |
Het |
| Cimip1 |
C |
A |
2: 173,527,907 (GRCm38) |
F71L |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,616,089 (GRCm38) |
I483N |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,835,209 (GRCm38) |
V71A |
possibly damaging |
Het |
| Dhx35 |
A |
G |
2: 158,831,687 (GRCm38) |
E346G |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,807,490 (GRCm38) |
E427G |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,815,411 (GRCm38) |
Q1036K |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 7,014,737 (GRCm38) |
F92I |
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,506,800 (GRCm38) |
D64E |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,544,549 (GRCm38) |
F491S |
probably damaging |
Het |
| Fzd2 |
T |
G |
11: 102,604,985 (GRCm38) |
V85G |
probably damaging |
Het |
| Gjd4 |
G |
A |
18: 9,280,457 (GRCm38) |
T207M |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,146,190 (GRCm38) |
E1096G |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,633,464 (GRCm38) |
L142* |
probably null |
Het |
| Kctd21 |
T |
A |
7: 97,347,662 (GRCm38) |
I114N |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,065,366 (GRCm38) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,147,467 (GRCm38) |
V240A |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,655,733 (GRCm38) |
S409P |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,380,384 (GRCm38) |
E1012G |
unknown |
Het |
| Mmp24 |
A |
T |
2: 155,815,753 (GRCm38) |
D521V |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,695,941 (GRCm38) |
I768V |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,752,783 (GRCm38) |
E553V |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,292,449 (GRCm38) |
Y718F |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,305,739 (GRCm38) |
I1762F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 98,073,167 (GRCm38) |
V1184M |
probably benign |
Het |
| Neb |
A |
T |
2: 52,179,483 (GRCm38) |
D5775E |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,215,945 (GRCm38) |
N133S |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 108,286,893 (GRCm38) |
S78P |
probably damaging |
Het |
| Pramel19 |
T |
C |
4: 101,941,443 (GRCm38) |
Y204H |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,352,797 (GRCm38) |
I134T |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,455,888 (GRCm38) |
T1370I |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,453,761 (GRCm38) |
L630P |
probably damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,478,157 (GRCm38) |
L1566F |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,732,253 (GRCm38) |
W727R |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,579,175 (GRCm38) |
|
probably null |
Het |
| Samm50 |
T |
G |
15: 84,204,097 (GRCm38) |
|
probably benign |
Het |
| Sema4f |
G |
A |
6: 82,917,662 (GRCm38) |
A476V |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,228,980 (GRCm38) |
N1031S |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,531,459 (GRCm38) |
Y390C |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,421,212 (GRCm38) |
Q3K |
probably benign |
Het |
| Smim1 |
T |
C |
4: 154,023,614 (GRCm38) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,079,423 (GRCm38) |
K291E |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,188,191 (GRCm38) |
T606S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 33,572,816 (GRCm38) |
D758G |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,911,438 (GRCm38) |
R550* |
probably null |
Het |
| Tlcd3a |
G |
T |
11: 76,207,146 (GRCm38) |
G60* |
probably null |
Het |
| Tnrc18 |
A |
C |
5: 142,727,012 (GRCm38) |
L2594R |
probably damaging |
Het |
| Vezf1 |
A |
G |
11: 88,081,670 (GRCm38) |
T468A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 22,827,670 (GRCm38) |
I149F |
probably damaging |
Het |
| Vmn2r96 |
A |
C |
17: 18,583,855 (GRCm38) |
T264P |
probably benign |
Het |
| Zfp217 |
C |
G |
2: 170,119,294 (GRCm38) |
S371T |
probably benign |
Het |
| Zfp442 |
G |
A |
2: 150,408,108 (GRCm38) |
H568Y |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,509,613 (GRCm38) |
H636P |
probably damaging |
Het |
| Zscan4d |
C |
T |
7: 11,162,072 (GRCm38) |
C457Y |
probably 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 |
|
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 |
|
R6965: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'- CTGGTTTGTCACTCCCAAGG -3'
Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTCCCAAGGAGGAGTGTGGTAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation