Incidental Mutation 'R5415:Enpp2'
| ID |
427697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Enpp2
|
| Ensembl Gene |
ENSMUSG00000022425 |
| Gene Name |
ectonucleotide pyrophosphatase/phosphodiesterase 2 |
| Synonyms |
Pdnp2, PD-Ialpha, Autotaxin, Npps2, ATX |
| MMRRC Submission |
042984-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
54702297-54816284 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 54745552 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 315
(H315Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041591]
[ENSMUST00000167541]
[ENSMUST00000171545]
[ENSMUST00000173516]
|
| AlphaFold |
Q9R1E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041591
AA Change: H315Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036180
Gene: ENSMUSG00000022425
AA Change: H315Y
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
54 |
97 |
4.79e-16 |
SMART |
|
SO
|
98 |
141 |
2.95e-16 |
SMART |
|
Pfam:Phosphodiest
|
165 |
285 |
4.7e-41 |
PFAM |
|
Pfam:Phosphodiest
|
278 |
477 |
3.3e-40 |
PFAM |
|
Endonuclease_NS
|
613 |
844 |
3.93e-36 |
SMART |
|
NUC
|
614 |
844 |
1.32e-109 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167541
AA Change: H315Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132640
Gene: ENSMUSG00000022425
AA Change: H315Y
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
54 |
97 |
4.79e-16 |
SMART |
|
SO
|
98 |
141 |
2.95e-16 |
SMART |
|
Pfam:Phosphodiest
|
165 |
284 |
5.4e-41 |
PFAM |
|
Pfam:Phosphodiest
|
278 |
477 |
3.4e-40 |
PFAM |
|
Endonuclease_NS
|
638 |
869 |
3.93e-36 |
SMART |
|
NUC
|
639 |
869 |
1.32e-109 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171545
AA Change: H315Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128941
Gene: ENSMUSG00000022425
AA Change: H315Y
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
54 |
97 |
4.79e-16 |
SMART |
|
SO
|
98 |
141 |
2.95e-16 |
SMART |
|
Pfam:Phosphodiest
|
165 |
283 |
2.8e-43 |
PFAM |
|
Pfam:Phosphodiest
|
275 |
529 |
2.8e-36 |
PFAM |
|
Endonuclease_NS
|
665 |
896 |
3.93e-36 |
SMART |
|
NUC
|
666 |
896 |
1.32e-109 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173516
AA Change: H315Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133877
Gene: ENSMUSG00000022425
AA Change: H315Y
| Domain | Start | End | E-Value | Type |
|---|
|
SO
|
54 |
97 |
4.79e-16 |
SMART |
|
SO
|
98 |
141 |
2.95e-16 |
SMART |
|
Pfam:Phosphodiest
|
165 |
285 |
2.8e-41 |
PFAM |
|
Pfam:Phosphodiest
|
276 |
529 |
7.8e-36 |
PFAM |
|
Endonuclease_NS
|
661 |
892 |
3.93e-36 |
SMART |
|
NUC
|
662 |
892 |
1.32e-109 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227483
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the phosphodiesterase and nucleotide pyrophosphatase family of bifunctional enzymes that hydrolize phosphodiester bonds of various nucleotides. The encoded protein undergoes proteolytic processing to generate a mature protein with lysophospholipase D activity, catalyzing the cleavage of the choline group from lysophosphatidylcholine to produce lysophosphatidic acid. This gene is expressed in numerous tissues and participates in neural development, obesity, inflammation and oncogenesis. A complete lack of the encoded protein in mice results in aberrant vascular and neuronal development leading to embryonic lethality. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate the mature protein. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, absent yolk sac vasculature, abnormal vasculature, and variable penetrance of impaired embryo turning, edema, failure of chorioallantoic fusion, neural tube malformations, and abnormal forebrain development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
G |
A |
8: 3,438,075 (GRCm39) |
R303H |
probably damaging |
Het |
| Ark2c |
C |
A |
18: 77,554,435 (GRCm39) |
V60L |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,570,690 (GRCm39) |
Q556L |
probably benign |
Het |
| Ccr1 |
G |
T |
9: 123,764,413 (GRCm39) |
P39H |
probably damaging |
Het |
| Cd177 |
A |
T |
7: 24,451,816 (GRCm39) |
L400Q |
probably damaging |
Het |
| Cfap298 |
G |
T |
16: 90,722,953 (GRCm39) |
D260E |
probably benign |
Het |
| Cideb |
T |
C |
14: 55,995,312 (GRCm39) |
E58G |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,313,553 (GRCm39) |
K241E |
possibly damaging |
Het |
| Ect2 |
C |
T |
3: 27,201,002 (GRCm39) |
C126Y |
probably damaging |
Het |
| Eef1d |
T |
C |
15: 75,775,030 (GRCm39) |
T210A |
probably benign |
Het |
| Ero1b |
A |
T |
13: 12,616,656 (GRCm39) |
M362L |
probably benign |
Het |
| Exosc2 |
A |
G |
2: 31,562,578 (GRCm39) |
K73E |
possibly damaging |
Het |
| Gm9637 |
T |
A |
14: 19,402,143 (GRCm38) |
|
noncoding transcript |
Het |
| Gstm5 |
A |
G |
3: 107,804,811 (GRCm39) |
D101G |
probably damaging |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,519,699 (GRCm39) |
D2137G |
probably benign |
Het |
| Mecom |
T |
C |
3: 30,011,675 (GRCm39) |
D619G |
possibly damaging |
Het |
| Met |
A |
G |
6: 17,527,084 (GRCm39) |
I512V |
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,937,658 (GRCm39) |
K753R |
probably null |
Het |
| Nfatc4 |
A |
G |
14: 56,070,091 (GRCm39) |
D753G |
probably benign |
Het |
| Or2l5 |
T |
A |
16: 19,333,996 (GRCm39) |
H130L |
possibly damaging |
Het |
| Or4c113 |
T |
A |
2: 88,885,240 (GRCm39) |
T177S |
probably benign |
Het |
| Or4c12 |
T |
A |
2: 89,773,731 (GRCm39) |
T243S |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,763,752 (GRCm39) |
A10V |
probably damaging |
Het |
| Pcdh8 |
C |
A |
14: 80,007,688 (GRCm39) |
E292* |
probably null |
Het |
| Pdpn |
A |
T |
4: 142,995,788 (GRCm39) |
V161D |
probably damaging |
Het |
| Peg3 |
A |
G |
7: 6,711,628 (GRCm39) |
V1198A |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,342 (GRCm39) |
S21P |
probably benign |
Het |
| Plcb1 |
G |
T |
2: 135,189,322 (GRCm39) |
V817F |
possibly damaging |
Het |
| Polk |
T |
C |
13: 96,620,463 (GRCm39) |
Y579C |
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,511 (GRCm39) |
N129D |
probably benign |
Het |
| Psg29 |
C |
A |
7: 16,945,561 (GRCm39) |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,760,596 (GRCm39) |
R3H |
probably benign |
Het |
| Rps6kl1 |
A |
T |
12: 85,186,155 (GRCm39) |
C292S |
probably benign |
Het |
| Uaca |
G |
T |
9: 60,777,421 (GRCm39) |
G603C |
possibly damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,416 (GRCm39) |
H228R |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,623,658 (GRCm39) |
T221A |
probably benign |
Het |
| Zfp647 |
C |
A |
15: 76,795,593 (GRCm39) |
V356L |
possibly damaging |
Het |
|
| Other mutations in Enpp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00857:Enpp2
|
APN |
15 |
54,739,046 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01290:Enpp2
|
APN |
15 |
54,782,998 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01296:Enpp2
|
APN |
15 |
54,739,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01650:Enpp2
|
APN |
15 |
54,783,329 (GRCm39) |
missense |
probably benign |
|
|
IGL02470:Enpp2
|
APN |
15 |
54,702,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02522:Enpp2
|
APN |
15 |
54,762,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02727:Enpp2
|
APN |
15 |
54,773,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03178:Enpp2
|
APN |
15 |
54,729,402 (GRCm39) |
missense |
probably benign |
|
|
G1Funyon:Enpp2
|
UTSW |
15 |
54,714,803 (GRCm39) |
missense |
probably benign |
|
|
IGL03055:Enpp2
|
UTSW |
15 |
54,729,481 (GRCm39) |
splice site |
probably null |
|
|
PIT4260001:Enpp2
|
UTSW |
15 |
54,707,774 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0302:Enpp2
|
UTSW |
15 |
54,723,457 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0304:Enpp2
|
UTSW |
15 |
54,741,202 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0385:Enpp2
|
UTSW |
15 |
54,745,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Enpp2
|
UTSW |
15 |
54,710,633 (GRCm39) |
splice site |
probably benign |
|
|
R0696:Enpp2
|
UTSW |
15 |
54,761,092 (GRCm39) |
nonsense |
probably null |
|
|
R0879:Enpp2
|
UTSW |
15 |
54,741,326 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0924:Enpp2
|
UTSW |
15 |
54,770,355 (GRCm39) |
splice site |
probably benign |
|
|
R0989:Enpp2
|
UTSW |
15 |
54,739,155 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1126:Enpp2
|
UTSW |
15 |
54,770,222 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1434:Enpp2
|
UTSW |
15 |
54,726,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1447:Enpp2
|
UTSW |
15 |
54,782,994 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1464:Enpp2
|
UTSW |
15 |
54,727,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1464:Enpp2
|
UTSW |
15 |
54,727,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Enpp2
|
UTSW |
15 |
54,702,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1546:Enpp2
|
UTSW |
15 |
54,709,225 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1673:Enpp2
|
UTSW |
15 |
54,773,592 (GRCm39) |
splice site |
probably null |
|
|
R1853:Enpp2
|
UTSW |
15 |
54,709,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Enpp2
|
UTSW |
15 |
54,709,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1855:Enpp2
|
UTSW |
15 |
54,709,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Enpp2
|
UTSW |
15 |
54,746,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Enpp2
|
UTSW |
15 |
54,746,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Enpp2
|
UTSW |
15 |
54,739,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2122:Enpp2
|
UTSW |
15 |
54,761,188 (GRCm39) |
nonsense |
probably null |
|
|
R2275:Enpp2
|
UTSW |
15 |
54,761,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Enpp2
|
UTSW |
15 |
54,783,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3881:Enpp2
|
UTSW |
15 |
54,783,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3934:Enpp2
|
UTSW |
15 |
54,709,317 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4722:Enpp2
|
UTSW |
15 |
54,750,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4765:Enpp2
|
UTSW |
15 |
54,739,068 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4799:Enpp2
|
UTSW |
15 |
54,773,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Enpp2
|
UTSW |
15 |
54,745,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Enpp2
|
UTSW |
15 |
54,733,701 (GRCm39) |
nonsense |
probably null |
|
|
R5068:Enpp2
|
UTSW |
15 |
54,727,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Enpp2
|
UTSW |
15 |
54,727,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5070:Enpp2
|
UTSW |
15 |
54,727,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Enpp2
|
UTSW |
15 |
54,733,701 (GRCm39) |
nonsense |
probably null |
|
|
R5134:Enpp2
|
UTSW |
15 |
54,762,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Enpp2
|
UTSW |
15 |
54,710,692 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5218:Enpp2
|
UTSW |
15 |
54,750,982 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5965:Enpp2
|
UTSW |
15 |
54,746,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6086:Enpp2
|
UTSW |
15 |
54,709,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6229:Enpp2
|
UTSW |
15 |
54,741,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Enpp2
|
UTSW |
15 |
54,762,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6314:Enpp2
|
UTSW |
15 |
54,729,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6403:Enpp2
|
UTSW |
15 |
54,727,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6515:Enpp2
|
UTSW |
15 |
54,723,489 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6525:Enpp2
|
UTSW |
15 |
54,733,607 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6536:Enpp2
|
UTSW |
15 |
54,726,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7070:Enpp2
|
UTSW |
15 |
54,762,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7077:Enpp2
|
UTSW |
15 |
54,764,787 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7265:Enpp2
|
UTSW |
15 |
54,773,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7324:Enpp2
|
UTSW |
15 |
54,741,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7331:Enpp2
|
UTSW |
15 |
54,739,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Enpp2
|
UTSW |
15 |
54,730,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7494:Enpp2
|
UTSW |
15 |
54,773,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7557:Enpp2
|
UTSW |
15 |
54,773,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7574:Enpp2
|
UTSW |
15 |
54,714,813 (GRCm39) |
missense |
probably benign |
|
|
R7665:Enpp2
|
UTSW |
15 |
54,702,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7744:Enpp2
|
UTSW |
15 |
54,764,629 (GRCm39) |
splice site |
probably null |
|
|
R7940:Enpp2
|
UTSW |
15 |
54,770,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7942:Enpp2
|
UTSW |
15 |
54,709,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7951:Enpp2
|
UTSW |
15 |
54,783,089 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8069:Enpp2
|
UTSW |
15 |
54,710,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8301:Enpp2
|
UTSW |
15 |
54,714,803 (GRCm39) |
missense |
probably benign |
|
|
R8376:Enpp2
|
UTSW |
15 |
54,773,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Enpp2
|
UTSW |
15 |
54,733,722 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R9275:Enpp2
|
UTSW |
15 |
54,713,484 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9304:Enpp2
|
UTSW |
15 |
54,815,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9377:Enpp2
|
UTSW |
15 |
54,739,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9674:Enpp2
|
UTSW |
15 |
54,816,135 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTATTCCCCATGGCACCAT -3'
(R):5'- CATTGGTATGTTCCTGTGTTCC -3'
Sequencing Primer
(F):5'- CATGGCACCATGTTTAGCATATG -3'
(R):5'- GGTATGTTCCTGTGTTCCTCTGC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation