Incidental Mutation 'R6021:Enpp5'
ID |
478972 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Enpp5
|
Ensembl Gene |
ENSMUSG00000023960 |
Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
Synonyms |
D17Abb1e |
MMRRC Submission |
044194-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
44389704-44397458 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44396210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 374
(Y374F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122767
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024756]
[ENSMUST00000126032]
[ENSMUST00000154166]
|
AlphaFold |
Q9EQG7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000024756
AA Change: Y374F
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000024756 Gene: ENSMUSG00000023960 AA Change: Y374F
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 benign
Transcript: ENSMUST00000154166
AA Change: Y374F
PolyPhen 2
Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000122767 Gene: ENSMUSG00000023960 AA Change: Y374F
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 |
0.4169 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
Validation Efficiency |
94% (61/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427I04Rik |
A |
G |
4: 123,754,509 (GRCm39) |
D141G |
possibly damaging |
Het |
A1bg |
T |
C |
15: 60,791,713 (GRCm39) |
E241G |
possibly damaging |
Het |
Abca13 |
G |
A |
11: 9,240,465 (GRCm39) |
W776* |
probably null |
Het |
Akr1b10 |
T |
A |
6: 34,369,309 (GRCm39) |
|
probably null |
Het |
Aopep |
A |
G |
13: 63,208,896 (GRCm39) |
T338A |
probably damaging |
Het |
Atf7 |
T |
C |
15: 102,465,908 (GRCm39) |
D84G |
probably benign |
Het |
AW209491 |
C |
T |
13: 14,812,365 (GRCm39) |
A406V |
probably benign |
Het |
Azi2 |
T |
A |
9: 117,876,487 (GRCm39) |
M1K |
probably null |
Het |
Boc |
T |
A |
16: 44,309,017 (GRCm39) |
M832L |
probably benign |
Het |
Brix1 |
C |
T |
15: 10,476,675 (GRCm39) |
R267H |
probably benign |
Het |
Cacna1s |
T |
C |
1: 136,034,225 (GRCm39) |
L1050P |
probably benign |
Het |
Celsr2 |
G |
T |
3: 108,308,561 (GRCm39) |
P1789T |
probably benign |
Het |
Crebbp |
G |
A |
16: 3,903,282 (GRCm39) |
R1986C |
probably damaging |
Het |
Crtam |
T |
A |
9: 40,901,477 (GRCm39) |
I150F |
probably damaging |
Het |
Crybg1 |
G |
T |
10: 43,873,534 (GRCm39) |
S1191R |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,167,552 (GRCm39) |
T1017A |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,814,048 (GRCm39) |
E396G |
probably damaging |
Het |
Fzd4 |
G |
A |
7: 89,056,942 (GRCm39) |
A330T |
probably benign |
Het |
Gabra5 |
A |
G |
7: 57,157,740 (GRCm39) |
S25P |
probably benign |
Het |
Get1 |
T |
C |
16: 95,946,878 (GRCm39) |
|
probably benign |
Het |
Ggps1 |
T |
C |
13: 14,228,589 (GRCm39) |
Y198C |
probably damaging |
Het |
Gm3173 |
A |
C |
14: 15,728,458 (GRCm39) |
D39A |
probably damaging |
Het |
Grm2 |
T |
C |
9: 106,527,999 (GRCm39) |
D295G |
probably damaging |
Het |
H2-T13 |
T |
G |
17: 36,392,166 (GRCm39) |
E182A |
probably damaging |
Het |
Igfbp5 |
A |
G |
1: 72,902,363 (GRCm39) |
M208T |
possibly damaging |
Het |
Ildr2 |
T |
A |
1: 166,131,173 (GRCm39) |
M343K |
possibly damaging |
Het |
Kif19b |
A |
T |
5: 140,455,434 (GRCm39) |
M347L |
probably damaging |
Het |
Loxhd1 |
A |
T |
18: 77,499,946 (GRCm39) |
D120V |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,413,883 (GRCm39) |
D1175G |
probably damaging |
Het |
Lrp1b |
C |
A |
2: 41,234,439 (GRCm39) |
D1171Y |
probably benign |
Het |
Lrrc9 |
A |
T |
12: 72,516,005 (GRCm39) |
I563F |
probably damaging |
Het |
Ltbp3 |
A |
T |
19: 5,803,708 (GRCm39) |
T798S |
probably benign |
Het |
Msantd4 |
T |
A |
9: 4,384,063 (GRCm39) |
V128E |
probably benign |
Het |
Mtf2 |
A |
G |
5: 108,229,003 (GRCm39) |
I69V |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,699,688 (GRCm39) |
S1712T |
possibly damaging |
Het |
Mylk3 |
A |
G |
8: 86,091,442 (GRCm39) |
V121A |
possibly damaging |
Het |
Ndufaf4 |
A |
G |
4: 24,901,760 (GRCm39) |
N100D |
probably benign |
Het |
Notch2 |
T |
C |
3: 98,029,288 (GRCm39) |
F1017S |
probably damaging |
Het |
Or4a27 |
G |
T |
2: 88,559,294 (GRCm39) |
Y216* |
probably null |
Het |
Or4a80 |
A |
C |
2: 89,582,465 (GRCm39) |
S236A |
probably benign |
Het |
Or4c108 |
G |
T |
2: 88,803,376 (GRCm39) |
Y286* |
probably null |
Het |
P2ry2 |
T |
C |
7: 100,647,607 (GRCm39) |
T233A |
probably benign |
Het |
Paip1 |
T |
"TTA,TT" |
13: 119,593,671 (GRCm39) |
|
probably null |
Het |
Pak1 |
T |
C |
7: 97,503,670 (GRCm39) |
S2P |
probably damaging |
Het |
Pde8b |
A |
T |
13: 95,162,670 (GRCm39) |
D817E |
possibly damaging |
Het |
Pfdn2 |
C |
A |
1: 171,173,338 (GRCm39) |
|
probably benign |
Het |
Pramel28 |
A |
T |
4: 143,692,336 (GRCm39) |
C222S |
probably benign |
Het |
Raver1 |
A |
G |
9: 20,987,918 (GRCm39) |
L606P |
probably damaging |
Het |
Robo3 |
C |
T |
9: 37,333,829 (GRCm39) |
W668* |
probably null |
Het |
Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rxfp2 |
A |
G |
5: 149,987,202 (GRCm39) |
N337S |
possibly damaging |
Het |
Samhd1 |
T |
C |
2: 156,962,474 (GRCm39) |
|
probably null |
Het |
Sardh |
A |
G |
2: 27,079,655 (GRCm39) |
V879A |
probably benign |
Het |
Slc4a4 |
A |
T |
5: 89,188,261 (GRCm39) |
|
probably benign |
Het |
Slc6a11 |
T |
C |
6: 114,207,012 (GRCm39) |
L332P |
probably damaging |
Het |
Tas2r135 |
T |
C |
6: 42,383,321 (GRCm39) |
Y287H |
probably damaging |
Het |
Tlr4 |
T |
A |
4: 66,759,103 (GRCm39) |
I632N |
probably damaging |
Het |
Tmem145 |
C |
T |
7: 25,008,270 (GRCm39) |
|
probably null |
Het |
Trmt61a |
C |
A |
12: 111,647,411 (GRCm39) |
F169L |
probably damaging |
Het |
Trp53tg5 |
T |
A |
2: 164,313,391 (GRCm39) |
I95L |
probably benign |
Het |
Vmn1r85 |
T |
C |
7: 12,818,616 (GRCm39) |
E176G |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,820,820 (GRCm39) |
D38G |
probably benign |
Het |
Vmn2r99 |
A |
G |
17: 19,598,210 (GRCm39) |
Y78C |
probably damaging |
Het |
Zfp964 |
G |
T |
8: 70,115,742 (GRCm39) |
S114I |
unknown |
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 |
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 |
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'- ACTTGACCCTACGACAGTTTC -3'
(R):5'- TATGATGCTGCCAAGAGAGACAC -3'
Sequencing Primer
(F):5'- ACGACAGTTTCTTTCCCTTCTAATG -3'
(R):5'- GTAATAAGGGTACGATTCCTCTTGC -3'
|
Posted On |
2017-06-26 |