Incidental Mutation 'R6454:Enpp5'
| ID |
519506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp5
|
| Ensembl Gene |
ENSMUSG00000023960 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 5 |
| Synonyms |
D17Abb1e |
| MMRRC Submission |
044590-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6454 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
100% (63/63) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
G |
T |
8: 44,079,845 (GRCm39) |
N126K |
probably damaging |
Het |
| Arid2 |
C |
T |
15: 96,270,294 (GRCm39) |
T1469I |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,290 (GRCm39) |
T93A |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,245,948 (GRCm39) |
|
probably null |
Het |
| Casz1 |
A |
T |
4: 149,035,952 (GRCm39) |
I1405F |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,883,403 (GRCm39) |
S100P |
probably damaging |
Het |
| Creld2 |
T |
A |
15: 88,707,274 (GRCm39) |
C197* |
probably null |
Het |
| Csmd1 |
A |
T |
8: 15,971,150 (GRCm39) |
F3055Y |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,880,590 (GRCm39) |
E3843D |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,611,270 (GRCm39) |
S3799P |
probably damaging |
Het |
| Dpp9 |
A |
T |
17: 56,513,808 (GRCm39) |
L102Q |
probably damaging |
Het |
| Eipr1 |
T |
G |
12: 28,914,761 (GRCm39) |
I305S |
probably damaging |
Het |
| Faf1 |
G |
T |
4: 109,699,531 (GRCm39) |
A359S |
probably benign |
Het |
| Fam13b |
A |
G |
18: 34,590,715 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,638,015 (GRCm39) |
N363I |
probably damaging |
Het |
| Grm8 |
T |
G |
6: 27,363,775 (GRCm39) |
H580P |
possibly damaging |
Het |
| Itih5 |
T |
C |
2: 10,245,479 (GRCm39) |
F523L |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,517,527 (GRCm39) |
M383K |
possibly damaging |
Het |
| Lgi4 |
A |
T |
7: 30,759,557 (GRCm39) |
T38S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,241,191 (GRCm39) |
M856K |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nlrp9c |
G |
A |
7: 26,085,199 (GRCm39) |
R127C |
possibly damaging |
Het |
| Notch2 |
T |
C |
3: 98,044,722 (GRCm39) |
I1548T |
possibly damaging |
Het |
| Nphs2 |
T |
A |
1: 156,146,337 (GRCm39) |
H179Q |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,863,136 (GRCm39) |
|
probably null |
Het |
| Nup50l |
T |
G |
6: 96,142,609 (GRCm39) |
H145P |
possibly damaging |
Het |
| Odf2l |
C |
A |
3: 144,859,181 (GRCm39) |
Q517K |
possibly damaging |
Het |
| Omd |
A |
T |
13: 49,743,345 (GRCm39) |
I132F |
probably damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,130 (GRCm39) |
*312Q |
probably null |
Het |
| Or4a81 |
T |
C |
2: 89,619,522 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or5b12 |
T |
A |
19: 12,897,395 (GRCm39) |
N93Y |
probably benign |
Het |
| Or9g19 |
A |
G |
2: 85,600,717 (GRCm39) |
K191E |
probably benign |
Het |
| Otog |
A |
G |
7: 45,955,241 (GRCm39) |
N544D |
probably damaging |
Het |
| Ovol3 |
A |
G |
7: 29,934,800 (GRCm39) |
Y29H |
probably damaging |
Het |
| Papolb |
T |
C |
5: 142,515,353 (GRCm39) |
K97E |
possibly damaging |
Het |
| Pcdhb19 |
G |
T |
18: 37,632,322 (GRCm39) |
V706L |
probably benign |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plekhm1 |
G |
A |
11: 103,268,208 (GRCm39) |
R588C |
probably damaging |
Het |
| Pnpla6 |
G |
T |
8: 3,587,986 (GRCm39) |
V1062L |
probably damaging |
Het |
| Ppp1r9a |
T |
A |
6: 4,905,827 (GRCm39) |
F127L |
probably damaging |
Het |
| Rigi |
T |
A |
4: 40,220,456 (GRCm39) |
I476F |
probably damaging |
Het |
| Rnf5 |
A |
C |
17: 34,821,283 (GRCm39) |
C47W |
probably damaging |
Het |
| Sbno1 |
A |
T |
5: 124,538,910 (GRCm39) |
M517K |
probably damaging |
Het |
| Slc44a5 |
C |
T |
3: 153,948,796 (GRCm39) |
T188M |
probably benign |
Het |
| Smco1 |
A |
G |
16: 32,092,041 (GRCm39) |
T40A |
possibly damaging |
Het |
| Speer4f2 |
A |
T |
5: 17,579,431 (GRCm39) |
I77F |
probably damaging |
Het |
| Spem2 |
A |
G |
11: 69,708,254 (GRCm39) |
L237P |
probably damaging |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Tent5b |
A |
G |
4: 133,207,720 (GRCm39) |
D37G |
probably damaging |
Het |
| Tiam2 |
A |
T |
17: 3,488,938 (GRCm39) |
T749S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,533,866 (GRCm39) |
K2291E |
probably damaging |
Het |
| Tm6sf1 |
A |
G |
7: 81,525,801 (GRCm39) |
M294V |
probably damaging |
Het |
| Tmem35b |
T |
C |
4: 127,022,811 (GRCm39) |
*138R |
probably null |
Het |
| Tpst1 |
A |
G |
5: 130,130,892 (GRCm39) |
K121E |
possibly damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,261 (GRCm39) |
V51D |
possibly damaging |
Het |
| Tshr |
C |
A |
12: 91,505,323 (GRCm39) |
Q754K |
probably benign |
Het |
| Ttc38 |
T |
A |
15: 85,723,023 (GRCm39) |
M157K |
probably damaging |
Het |
| Ube2g2 |
T |
G |
10: 77,470,580 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
T |
G |
5: 87,388,836 (GRCm39) |
D459A |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,960,851 (GRCm39) |
Y858* |
probably null |
Het |
| Usp35 |
A |
T |
7: 96,960,767 (GRCm39) |
N886K |
probably damaging |
Het |
| Wdr33 |
T |
C |
18: 31,963,028 (GRCm39) |
V125A |
possibly damaging |
Het |
| Xpnpep1 |
G |
A |
19: 52,986,310 (GRCm39) |
T506I |
possibly damaging |
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 |
|
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'- GCCTGTAAGAAAGACGGGTATC -3'
(R):5'- ACTCTGTGTGTAAGGAATTGGC -3'
Sequencing Primer
(F):5'- GACGGGTATCTAGGTAACATTTGAC -3'
(R):5'- CTTGGGAGTTGCTGAACTGAGAAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation