Incidental Mutation 'R6735:Enpp3'
| ID |
530188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp3
|
| Ensembl Gene |
ENSMUSG00000019989 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 3 |
| Synonyms |
CD203c |
| MMRRC Submission |
044853-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.202)
|
| Stock # |
R6735 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24649712-24712093 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24683351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 289
(Y289H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020169
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020169]
[ENSMUST00000217903]
[ENSMUST00000219342]
|
| AlphaFold |
Q6DYE8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020169
AA Change: Y289H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020169
Gene: ENSMUSG00000019989
AA Change: Y289H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
23 |
45 |
N/A |
INTRINSIC |
|
SO
|
50 |
93 |
1.99e-13 |
SMART |
|
SO
|
94 |
137 |
7.66e-15 |
SMART |
|
Pfam:Phosphodiest
|
161 |
485 |
1.7e-87 |
PFAM |
|
Blast:Endonuclease_NS
|
543 |
599 |
9e-15 |
BLAST |
|
Endonuclease_NS
|
626 |
847 |
5.41e-16 |
SMART |
|
NUC
|
627 |
856 |
1.54e-92 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218619
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219342
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (47/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a series of ectoenzymes that are involved in hydrolysis of extracellular nucleotides. These ectoenzymes possess ATPase and ATP pyrophosphatase activities and are type II transmembrane proteins. Expression of the related rat mRNA has been found in a subset of immature glial cells and in the alimentary tract. The corresponding rat protein has been detected in the pancreas, small intestine, colon, and liver. The human mRNA is expressed in glioma cells, prostate, and uterus. Expression of the human protein has been detected in uterus, basophils, and mast cells. Two transcript variants, one protein coding and the other non-protein coding, have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knockout allele exhibit increased numbers of basophils and mast cells with increased susceptibility to chronic allergic responses. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
A |
G |
4: 148,026,274 (GRCm39) |
T265A |
probably benign |
Het |
| Adap1 |
A |
T |
5: 139,278,900 (GRCm39) |
Y127N |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,032,189 (GRCm39) |
F246S |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,518,098 (GRCm39) |
Y68H |
probably damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,966 (GRCm39) |
S906P |
probably benign |
Het |
| C9 |
A |
T |
15: 6,519,387 (GRCm39) |
D408V |
probably benign |
Het |
| Cnot2 |
G |
A |
10: 116,334,058 (GRCm39) |
P371S |
possibly damaging |
Het |
| Cpeb4 |
T |
A |
11: 31,874,700 (GRCm39) |
Y174N |
probably benign |
Het |
| Erbin |
A |
T |
13: 104,020,718 (GRCm39) |
D80E |
probably damaging |
Het |
| Fgd6 |
A |
T |
10: 93,910,182 (GRCm39) |
E829V |
possibly damaging |
Het |
| Foxn2 |
T |
G |
17: 88,794,223 (GRCm39) |
S387A |
probably benign |
Het |
| Hapstr1 |
T |
A |
16: 8,673,764 (GRCm39) |
H230Q |
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,106,619 (GRCm39) |
L201S |
probably damaging |
Het |
| Kif13a |
A |
G |
13: 46,906,222 (GRCm39) |
S574P |
possibly damaging |
Het |
| Lhx6 |
T |
G |
2: 35,981,390 (GRCm39) |
D67A |
probably damaging |
Het |
| Lmbr1l |
A |
T |
15: 98,807,121 (GRCm39) |
M220K |
probably damaging |
Het |
| Macroh2a2 |
A |
G |
10: 61,577,046 (GRCm39) |
I274T |
probably damaging |
Het |
| Naa35 |
T |
C |
13: 59,773,378 (GRCm39) |
L111P |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,041,902 (GRCm39) |
V1307E |
probably damaging |
Het |
| Nts |
T |
A |
10: 102,320,859 (GRCm39) |
M77L |
probably benign |
Het |
| Or5m11b |
A |
C |
2: 85,805,778 (GRCm39) |
S64R |
possibly damaging |
Het |
| Pigz |
A |
G |
16: 31,764,361 (GRCm39) |
N473S |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,628,195 (GRCm39) |
D423G |
probably damaging |
Het |
| Plac8 |
A |
G |
5: 100,710,485 (GRCm39) |
|
probably null |
Het |
| Ppp2r2b |
T |
C |
18: 42,821,653 (GRCm39) |
|
probably null |
Het |
| Proc |
T |
C |
18: 32,256,701 (GRCm39) |
N322S |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,573,398 (GRCm39) |
|
probably null |
Het |
| Safb |
A |
G |
17: 56,892,169 (GRCm39) |
|
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,341,486 (GRCm39) |
D216G |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,215,048 (GRCm39) |
E345G |
possibly damaging |
Het |
| Sult2a5 |
A |
T |
7: 13,398,983 (GRCm39) |
K197* |
probably null |
Het |
| Suv39h1 |
C |
A |
X: 7,929,138 (GRCm39) |
R397L |
probably damaging |
Homo |
| Thbs4 |
T |
A |
13: 92,891,674 (GRCm39) |
M814L |
possibly damaging |
Het |
| Tmem14a |
T |
A |
1: 21,299,805 (GRCm39) |
|
probably benign |
Het |
| Tmprss11d |
C |
A |
5: 86,457,159 (GRCm39) |
A167S |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,629,252 (GRCm39) |
C14362F |
probably damaging |
Het |
| Usp15 |
T |
C |
10: 123,004,272 (GRCm39) |
I161V |
possibly damaging |
Het |
| Vmn1r67 |
T |
C |
7: 10,181,138 (GRCm39) |
L134P |
probably damaging |
Het |
| Wdr74 |
A |
G |
19: 8,713,586 (GRCm39) |
E73G |
possibly damaging |
Het |
| Zbtb49 |
A |
T |
5: 38,358,402 (GRCm39) |
M617K |
possibly damaging |
Het |
| Zc3h3 |
G |
A |
15: 75,628,483 (GRCm39) |
T937I |
probably benign |
Het |
| Zeb2 |
C |
T |
2: 45,000,028 (GRCm39) |
V25M |
probably null |
Het |
| Zfp108 |
T |
C |
7: 23,961,197 (GRCm39) |
F596S |
probably damaging |
Het |
| Zfyve1 |
T |
A |
12: 83,641,618 (GRCm39) |
N13Y |
possibly damaging |
Het |
| Zswim2 |
T |
C |
2: 83,754,105 (GRCm39) |
D185G |
probably benign |
Het |
|
| Other mutations in Enpp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Enpp3
|
APN |
10 |
24,663,670 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00778:Enpp3
|
APN |
10 |
24,674,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01147:Enpp3
|
APN |
10 |
24,650,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Enpp3
|
APN |
10 |
24,681,820 (GRCm39) |
nonsense |
probably null |
|
|
IGL01642:Enpp3
|
APN |
10 |
24,674,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Enpp3
|
APN |
10 |
24,667,923 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02083:Enpp3
|
APN |
10 |
24,652,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02152:Enpp3
|
APN |
10 |
24,649,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Enpp3
|
APN |
10 |
24,667,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL02517:Enpp3
|
APN |
10 |
24,685,746 (GRCm39) |
splice site |
probably benign |
|
|
IGL02956:Enpp3
|
APN |
10 |
24,650,841 (GRCm39) |
splice site |
probably benign |
|
|
R0017:Enpp3
|
UTSW |
10 |
24,675,051 (GRCm39) |
splice site |
probably null |
|
|
R0042:Enpp3
|
UTSW |
10 |
24,650,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Enpp3
|
UTSW |
10 |
24,652,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Enpp3
|
UTSW |
10 |
24,652,767 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0403:Enpp3
|
UTSW |
10 |
24,680,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Enpp3
|
UTSW |
10 |
24,696,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0450:Enpp3
|
UTSW |
10 |
24,652,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Enpp3
|
UTSW |
10 |
24,652,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0826:Enpp3
|
UTSW |
10 |
24,671,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1245:Enpp3
|
UTSW |
10 |
24,660,851 (GRCm39) |
splice site |
probably benign |
|
|
R1261:Enpp3
|
UTSW |
10 |
24,650,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1633:Enpp3
|
UTSW |
10 |
24,671,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1903:Enpp3
|
UTSW |
10 |
24,654,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1913:Enpp3
|
UTSW |
10 |
24,652,669 (GRCm39) |
nonsense |
probably null |
|
|
R1966:Enpp3
|
UTSW |
10 |
24,683,389 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2157:Enpp3
|
UTSW |
10 |
24,652,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2179:Enpp3
|
UTSW |
10 |
24,681,793 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2380:Enpp3
|
UTSW |
10 |
24,652,770 (GRCm39) |
missense |
probably benign |
|
|
R2410:Enpp3
|
UTSW |
10 |
24,650,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3794:Enpp3
|
UTSW |
10 |
24,707,630 (GRCm39) |
splice site |
probably null |
|
|
R3896:Enpp3
|
UTSW |
10 |
24,653,847 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4334:Enpp3
|
UTSW |
10 |
24,669,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4569:Enpp3
|
UTSW |
10 |
24,652,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4766:Enpp3
|
UTSW |
10 |
24,649,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4951:Enpp3
|
UTSW |
10 |
24,674,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4998:Enpp3
|
UTSW |
10 |
24,683,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5045:Enpp3
|
UTSW |
10 |
24,652,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Enpp3
|
UTSW |
10 |
24,685,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5331:Enpp3
|
UTSW |
10 |
24,684,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5569:Enpp3
|
UTSW |
10 |
24,654,719 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5975:Enpp3
|
UTSW |
10 |
24,650,740 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6117:Enpp3
|
UTSW |
10 |
24,663,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6419:Enpp3
|
UTSW |
10 |
24,684,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6677:Enpp3
|
UTSW |
10 |
24,653,855 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6833:Enpp3
|
UTSW |
10 |
24,685,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6999:Enpp3
|
UTSW |
10 |
24,684,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7022:Enpp3
|
UTSW |
10 |
24,702,093 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7173:Enpp3
|
UTSW |
10 |
24,649,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7224:Enpp3
|
UTSW |
10 |
24,652,782 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7227:Enpp3
|
UTSW |
10 |
24,693,742 (GRCm39) |
missense |
unknown |
|
|
R7487:Enpp3
|
UTSW |
10 |
24,681,821 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7529:Enpp3
|
UTSW |
10 |
24,674,072 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7583:Enpp3
|
UTSW |
10 |
24,711,990 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R7692:Enpp3
|
UTSW |
10 |
24,660,739 (GRCm39) |
nonsense |
probably null |
|
|
R7962:Enpp3
|
UTSW |
10 |
24,660,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7965:Enpp3
|
UTSW |
10 |
24,654,717 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8153:Enpp3
|
UTSW |
10 |
24,685,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8262:Enpp3
|
UTSW |
10 |
24,653,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8305:Enpp3
|
UTSW |
10 |
24,700,827 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8393:Enpp3
|
UTSW |
10 |
24,702,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776:Enpp3
|
UTSW |
10 |
24,650,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8776-TAIL:Enpp3
|
UTSW |
10 |
24,650,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Enpp3
|
UTSW |
10 |
24,696,513 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9047:Enpp3
|
UTSW |
10 |
24,674,172 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9093:Enpp3
|
UTSW |
10 |
24,671,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9117:Enpp3
|
UTSW |
10 |
24,702,078 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9194:Enpp3
|
UTSW |
10 |
24,675,092 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9224:Enpp3
|
UTSW |
10 |
24,650,716 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9244:Enpp3
|
UTSW |
10 |
24,654,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Enpp3
|
UTSW |
10 |
24,711,990 (GRCm39) |
start codon destroyed |
probably null |
0.83 |
|
R9644:Enpp3
|
UTSW |
10 |
24,685,801 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9658:Enpp3
|
UTSW |
10 |
24,649,802 (GRCm39) |
makesense |
probably null |
|
|
X0026:Enpp3
|
UTSW |
10 |
24,702,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Enpp3
|
UTSW |
10 |
24,663,691 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGAATCCAGAACCTGTATG -3'
(R):5'- CAGTCAAAATAGTTGTTAGCAGGAG -3'
Sequencing Primer
(F):5'- CCTGTATGATAGAAGAGAACTGACCC -3'
(R):5'- AGCAGGAGGTTATAGTGTTCATTC -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation