Incidental Mutation 'R2353:Enpp1'
| ID |
246263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp1
|
| Ensembl Gene |
ENSMUSG00000037370 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 1 |
| Synonyms |
PC-1, E-NPP1, Npps, Pca, Pdnp1, CD203c, twy, NPP1, 4833416E15Rik, Pca-1, Ly-41 |
| MMRRC Submission |
040335-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R2353 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
24513812-24588057 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 24527239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 649
(Q649H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039882]
[ENSMUST00000105520]
[ENSMUST00000135846]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039882
|
| SMART Domains |
Protein: ENSMUSP00000046090
Gene: ENSMUSG00000037370
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
69 |
N/A |
INTRINSIC |
|
SO
|
86 |
126 |
2.17e-14 |
SMART |
|
SO
|
127 |
170 |
1.51e-13 |
SMART |
|
Pfam:Phosphodiest
|
194 |
358 |
1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105520
AA Change: Q648H
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000101159
Gene: ENSMUSG00000037370
AA Change: Q648H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
SO
|
86 |
126 |
2.17e-14 |
SMART |
|
SO
|
127 |
170 |
1.51e-13 |
SMART |
|
Pfam:Phosphodiest
|
194 |
520 |
1.8e-87 |
PFAM |
|
Endonuclease_NS
|
655 |
873 |
5.33e-15 |
SMART |
|
NUC
|
656 |
887 |
3.62e-107 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135846
AA Change: Q649H
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114273
Gene: ENSMUSG00000037370
AA Change: Q649H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
34 |
N/A |
INTRINSIC |
|
transmembrane domain
|
57 |
79 |
N/A |
INTRINSIC |
|
SO
|
86 |
126 |
2.17e-14 |
SMART |
|
SO
|
127 |
170 |
1.51e-13 |
SMART |
|
Pfam:Phosphodiest
|
194 |
520 |
4.2e-91 |
PFAM |
|
Endonuclease_NS
|
656 |
874 |
5.33e-15 |
SMART |
|
NUC
|
657 |
888 |
3.62e-107 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150570
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the nucleoside pyrophosphatase/phosphodiesterase family of enzymes that catalyzes the hydrolysis of pyrophosphate and phosphodiester bonds in nucleotide triphosphates and oligonucleotides, respectively, to generate nucleoside 5'-monophosphates. The encoded protein is a type II transmembrane glycoprotein that negatively regulates bone mineralization. Mice harboring a nonsense mutation in this gene, termed tiptoe walking (ttw), exhibit ectopic ossification of the spinal ligaments. The encoded protein binds to the insulin receptor, inhibits downstream signaling events and induces insulin resistance and glucose tolerance. This gene is located adjacent to a paralog on chromosome 10. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele develop hyperostosis leading to ossific intervertebral fusion, peripheral joint ankylosis and tendon calcification, and display spontaneous arterial and articular cartilage calcification, and altered adipocyte maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
T |
4: 144,349,779 (GRCm39) |
E345D |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,742,537 (GRCm39) |
Q692L |
probably benign |
Het |
| Ankk1 |
A |
C |
9: 49,329,990 (GRCm39) |
C322G |
probably benign |
Het |
| Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
| Apeh |
T |
C |
9: 107,963,491 (GRCm39) |
D577G |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,405,435 (GRCm39) |
W1441R |
probably damaging |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Cd163 |
G |
T |
6: 124,296,115 (GRCm39) |
E820* |
probably null |
Het |
| Cd38 |
T |
A |
5: 44,065,353 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Garnl3 |
T |
A |
2: 32,954,046 (GRCm39) |
R86S |
probably damaging |
Het |
| Gbe1 |
A |
G |
16: 70,233,909 (GRCm39) |
|
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,229,223 (GRCm39) |
|
noncoding transcript |
Het |
| Hip1 |
A |
T |
5: 135,441,566 (GRCm39) |
V568E |
probably damaging |
Het |
| Hspa14 |
G |
A |
2: 3,512,213 (GRCm39) |
|
probably null |
Het |
| Lrrc4 |
A |
G |
6: 28,831,451 (GRCm39) |
F55L |
probably benign |
Het |
| Med31 |
T |
A |
11: 72,104,966 (GRCm39) |
N35I |
probably damaging |
Het |
| Msi1 |
C |
A |
5: 115,574,568 (GRCm39) |
|
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,660 (GRCm39) |
I179M |
probably benign |
Het |
| Or4b1 |
A |
T |
2: 89,980,062 (GRCm39) |
L96Q |
probably damaging |
Het |
| Parl |
T |
C |
16: 20,105,790 (GRCm39) |
T211A |
probably benign |
Het |
| Ppwd1 |
T |
C |
13: 104,350,090 (GRCm39) |
I432V |
probably benign |
Het |
| Scn10a |
T |
A |
9: 119,467,753 (GRCm39) |
I796F |
probably damaging |
Het |
| Semp2l2a |
T |
A |
8: 13,886,951 (GRCm39) |
E380V |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,842,895 (GRCm39) |
D287G |
probably damaging |
Het |
| Sin3b |
T |
C |
8: 73,450,780 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
T |
C |
4: 139,160,984 (GRCm39) |
I2493T |
possibly damaging |
Het |
| Uts2 |
T |
A |
4: 151,084,593 (GRCm39) |
|
probably null |
Het |
| Zfp109 |
T |
C |
7: 23,928,806 (GRCm39) |
D201G |
probably benign |
Het |
| Zfp407 |
A |
G |
18: 84,578,005 (GRCm39) |
F1036S |
probably damaging |
Het |
| Znrf3 |
T |
C |
11: 5,231,170 (GRCm39) |
E685G |
probably damaging |
Het |
|
| Other mutations in Enpp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00392:Enpp1
|
APN |
10 |
24,521,325 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00966:Enpp1
|
APN |
10 |
24,529,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01364:Enpp1
|
APN |
10 |
24,540,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02040:Enpp1
|
APN |
10 |
24,531,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02143:Enpp1
|
APN |
10 |
24,553,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02631:Enpp1
|
APN |
10 |
24,517,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02655:Enpp1
|
APN |
10 |
24,553,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02677:Enpp1
|
APN |
10 |
24,555,083 (GRCm39) |
splice site |
probably benign |
|
|
IGL02691:Enpp1
|
APN |
10 |
24,587,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02966:Enpp1
|
APN |
10 |
24,536,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03087:Enpp1
|
APN |
10 |
24,531,779 (GRCm39) |
splice site |
probably benign |
|
|
IGL03330:Enpp1
|
APN |
10 |
24,540,804 (GRCm39) |
splice site |
probably benign |
|
|
IGL03365:Enpp1
|
APN |
10 |
24,544,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Enpp1
|
APN |
10 |
24,536,181 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4651001:Enpp1
|
UTSW |
10 |
24,529,848 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0011:Enpp1
|
UTSW |
10 |
24,545,900 (GRCm39) |
nonsense |
probably null |
|
|
R0201:Enpp1
|
UTSW |
10 |
24,529,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0496:Enpp1
|
UTSW |
10 |
24,547,950 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1228:Enpp1
|
UTSW |
10 |
24,521,310 (GRCm39) |
missense |
probably benign |
0.30 |
|
R1536:Enpp1
|
UTSW |
10 |
24,517,732 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1927:Enpp1
|
UTSW |
10 |
24,530,786 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2051:Enpp1
|
UTSW |
10 |
24,587,702 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2057:Enpp1
|
UTSW |
10 |
24,536,090 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4077:Enpp1
|
UTSW |
10 |
24,544,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4079:Enpp1
|
UTSW |
10 |
24,544,905 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4739:Enpp1
|
UTSW |
10 |
24,555,146 (GRCm39) |
missense |
probably null |
0.99 |
|
R4740:Enpp1
|
UTSW |
10 |
24,555,146 (GRCm39) |
missense |
probably null |
0.99 |
|
R4761:Enpp1
|
UTSW |
10 |
24,517,849 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4822:Enpp1
|
UTSW |
10 |
24,537,833 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4919:Enpp1
|
UTSW |
10 |
24,523,983 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5140:Enpp1
|
UTSW |
10 |
24,528,750 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R5302:Enpp1
|
UTSW |
10 |
24,527,288 (GRCm39) |
missense |
probably benign |
|
|
R5421:Enpp1
|
UTSW |
10 |
24,545,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Enpp1
|
UTSW |
10 |
24,530,806 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5735:Enpp1
|
UTSW |
10 |
24,530,817 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5789:Enpp1
|
UTSW |
10 |
24,523,137 (GRCm39) |
missense |
probably benign |
|
|
R5942:Enpp1
|
UTSW |
10 |
24,551,966 (GRCm39) |
nonsense |
probably null |
|
|
R6048:Enpp1
|
UTSW |
10 |
24,536,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Enpp1
|
UTSW |
10 |
24,533,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6305:Enpp1
|
UTSW |
10 |
24,517,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Enpp1
|
UTSW |
10 |
24,523,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6624:Enpp1
|
UTSW |
10 |
24,545,653 (GRCm39) |
nonsense |
probably null |
|
|
R6793:Enpp1
|
UTSW |
10 |
24,531,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6936:Enpp1
|
UTSW |
10 |
24,527,237 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7255:Enpp1
|
UTSW |
10 |
24,521,213 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7285:Enpp1
|
UTSW |
10 |
24,536,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7401:Enpp1
|
UTSW |
10 |
24,521,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Enpp1
|
UTSW |
10 |
24,587,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7430:Enpp1
|
UTSW |
10 |
24,587,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7526:Enpp1
|
UTSW |
10 |
24,550,308 (GRCm39) |
splice site |
probably null |
|
|
R7532:Enpp1
|
UTSW |
10 |
24,551,885 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7789:Enpp1
|
UTSW |
10 |
24,529,981 (GRCm39) |
splice site |
probably null |
|
|
R8073:Enpp1
|
UTSW |
10 |
24,555,142 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8283:Enpp1
|
UTSW |
10 |
24,550,554 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8955:Enpp1
|
UTSW |
10 |
24,544,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9494:Enpp1
|
UTSW |
10 |
24,527,234 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Enpp1
|
UTSW |
10 |
24,537,840 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTCACAGCTACACAGGGAG -3'
(R):5'- TGTTTCTATGCCCTGAGACG -3'
Sequencing Primer
(F):5'- AAAGCTGTGCCCTAACTTCTGG -3'
(R):5'- CTATGCCCTGAGACGTTTGTGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation