Incidental Mutation 'R1393:Nxpe2'
| ID |
162700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxpe2
|
| Ensembl Gene |
ENSMUSG00000032028 |
| Gene Name |
neurexophilin and PC-esterase domain family, member 2 |
| Synonyms |
Fam55b, 4432416J03Rik |
| MMRRC Submission |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48237914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116684
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034527]
[ENSMUST00000135457]
[ENSMUST00000137976]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034527
AA Change: T114A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
80 |
277 |
1.2e-18 |
PFAM |
|
low complexity region
|
307 |
316 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135457
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137976
AA Change: T114A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116684
Gene: ENSMUSG00000032028
AA Change: T114A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
99 |
187 |
2.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142667
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149185
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
| Meta Mutation Damage Score |
0.2480 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
probably benign |
Het |
|
| Other mutations in Nxpe2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01414:Nxpe2
|
APN |
9 |
48,231,923 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01830:Nxpe2
|
APN |
9 |
48,237,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Nxpe2
|
APN |
9 |
48,230,959 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02618:Nxpe2
|
APN |
9 |
48,237,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03065:Nxpe2
|
APN |
9 |
48,230,992 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03128:Nxpe2
|
APN |
9 |
48,230,798 (GRCm39) |
missense |
probably benign |
0.12 |
|
P4717OSA:Nxpe2
|
UTSW |
9 |
48,237,677 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0019:Nxpe2
|
UTSW |
9 |
48,231,080 (GRCm39) |
missense |
probably benign |
0.37 |
|
R0172:Nxpe2
|
UTSW |
9 |
48,231,209 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0255:Nxpe2
|
UTSW |
9 |
48,251,870 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0415:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1061:Nxpe2
|
UTSW |
9 |
48,237,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Nxpe2
|
UTSW |
9 |
48,231,211 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1311:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1827:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1828:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1831:Nxpe2
|
UTSW |
9 |
48,237,452 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1866:Nxpe2
|
UTSW |
9 |
48,238,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1889:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1903:Nxpe2
|
UTSW |
9 |
48,230,906 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1928:Nxpe2
|
UTSW |
9 |
48,237,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1959:Nxpe2
|
UTSW |
9 |
48,231,026 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4594:Nxpe2
|
UTSW |
9 |
48,230,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Nxpe2
|
UTSW |
9 |
48,231,821 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4909:Nxpe2
|
UTSW |
9 |
48,230,897 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5048:Nxpe2
|
UTSW |
9 |
48,237,388 (GRCm39) |
splice site |
probably null |
|
|
R5372:Nxpe2
|
UTSW |
9 |
48,250,819 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5614:Nxpe2
|
UTSW |
9 |
48,234,401 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5762:Nxpe2
|
UTSW |
9 |
48,230,875 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6151:Nxpe2
|
UTSW |
9 |
48,237,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6958:Nxpe2
|
UTSW |
9 |
48,237,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7130:Nxpe2
|
UTSW |
9 |
48,250,837 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7138:Nxpe2
|
UTSW |
9 |
48,232,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Nxpe2
|
UTSW |
9 |
48,238,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7289:Nxpe2
|
UTSW |
9 |
48,234,339 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7949:Nxpe2
|
UTSW |
9 |
48,234,397 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7973:Nxpe2
|
UTSW |
9 |
48,231,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8327:Nxpe2
|
UTSW |
9 |
48,231,059 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8725:Nxpe2
|
UTSW |
9 |
48,238,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8727:Nxpe2
|
UTSW |
9 |
48,238,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9085:Nxpe2
|
UTSW |
9 |
48,250,872 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9577:Nxpe2
|
UTSW |
9 |
48,237,632 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTAAGGTGAGGCCGCATTCAG -3'
(R):5'- TGCACTCGGAAGAGCTTAAGAACAC -3'
Sequencing Primer
(F):5'- GATAATTTTGCCATAGCCTCGG -3'
(R):5'- GAAGAGCTTAAGAACACACCAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation