Incidental Mutation 'IGL02039:Nxpe2'
ID |
184626 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nxpe2
|
Ensembl Gene |
ENSMUSG00000032028 |
Gene Name |
neurexophilin and PC-esterase domain family, member 2 |
Synonyms |
Fam55b, 4432416J03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
IGL02039
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 48230959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 470
(N470I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034527
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034527]
[ENSMUST00000135457]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034527
AA Change: N470I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034527 Gene: ENSMUSG00000032028 AA Change: N470I
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 benign
Transcript: ENSMUST00000215780
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,247,193 (GRCm39) |
Y2313* |
probably null |
Het |
Arhgef12 |
A |
G |
9: 42,883,563 (GRCm39) |
I1323T |
probably benign |
Het |
C87436 |
A |
G |
6: 86,430,677 (GRCm39) |
M366V |
probably benign |
Het |
Cep290 |
T |
C |
10: 100,350,464 (GRCm39) |
|
probably null |
Het |
Cpsf3 |
T |
C |
12: 21,351,457 (GRCm39) |
M326T |
probably damaging |
Het |
Cpxm2 |
A |
G |
7: 131,649,482 (GRCm39) |
V64A |
probably damaging |
Het |
Csnka2ip |
G |
A |
16: 64,298,957 (GRCm39) |
S25F |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,524,769 (GRCm39) |
F168L |
possibly damaging |
Het |
Dhx8 |
T |
C |
11: 101,654,853 (GRCm39) |
|
probably null |
Het |
Dnah2 |
T |
A |
11: 69,390,038 (GRCm39) |
I736F |
probably damaging |
Het |
Erf |
T |
C |
7: 24,943,969 (GRCm39) |
E454G |
possibly damaging |
Het |
Flnc |
T |
C |
6: 29,450,718 (GRCm39) |
V1482A |
probably benign |
Het |
Fmn1 |
T |
C |
2: 113,195,425 (GRCm39) |
L375P |
unknown |
Het |
Foxm1 |
T |
C |
6: 128,346,323 (GRCm39) |
Y85H |
probably damaging |
Het |
Frem3 |
A |
G |
8: 81,339,600 (GRCm39) |
E631G |
probably damaging |
Het |
Fsip1 |
T |
C |
2: 118,070,895 (GRCm39) |
D265G |
probably damaging |
Het |
Gprc5c |
C |
T |
11: 114,755,312 (GRCm39) |
Q330* |
probably null |
Het |
Grin1 |
C |
T |
2: 25,195,354 (GRCm39) |
V246M |
probably damaging |
Het |
Ifitm3 |
C |
A |
7: 140,590,563 (GRCm39) |
|
probably benign |
Het |
Igdcc3 |
G |
A |
9: 65,091,162 (GRCm39) |
V648I |
probably benign |
Het |
Ighv5-2 |
A |
G |
12: 113,542,214 (GRCm39) |
I87T |
probably benign |
Het |
Imp4 |
G |
A |
1: 34,482,849 (GRCm39) |
|
probably null |
Het |
Ino80 |
T |
C |
2: 119,210,554 (GRCm39) |
N1327D |
probably damaging |
Het |
Kif5a |
T |
C |
10: 127,069,736 (GRCm39) |
I830V |
possibly damaging |
Het |
Muc5b |
A |
G |
7: 141,424,901 (GRCm39) |
Y4696C |
possibly damaging |
Het |
Nrl |
T |
C |
14: 55,759,567 (GRCm39) |
E120G |
probably benign |
Het |
Nsmaf |
T |
A |
4: 6,424,995 (GRCm39) |
|
probably benign |
Het |
Nup35 |
T |
C |
2: 80,473,119 (GRCm39) |
M64T |
probably benign |
Het |
Oga |
A |
T |
19: 45,762,142 (GRCm39) |
V237E |
probably damaging |
Het |
Or12d17 |
T |
A |
17: 37,777,340 (GRCm39) |
I81N |
possibly damaging |
Het |
Or9i1 |
C |
T |
19: 13,840,083 (GRCm39) |
Q309* |
probably null |
Het |
Os9 |
G |
A |
10: 126,932,160 (GRCm39) |
P604S |
possibly damaging |
Het |
Pitpnm1 |
A |
G |
19: 4,155,032 (GRCm39) |
T287A |
probably benign |
Het |
Pkd2l2 |
G |
T |
18: 34,568,421 (GRCm39) |
|
probably null |
Het |
Pola2 |
A |
T |
19: 5,998,497 (GRCm39) |
I355N |
probably damaging |
Het |
Pp2d1 |
T |
A |
17: 53,823,022 (GRCm39) |
R15* |
probably null |
Het |
Prpf40a |
T |
C |
2: 53,034,815 (GRCm39) |
D749G |
probably damaging |
Het |
Rhoh |
T |
C |
5: 66,049,981 (GRCm39) |
S84P |
probably damaging |
Het |
Slc12a7 |
T |
C |
13: 73,957,213 (GRCm39) |
|
probably null |
Het |
Slc37a2 |
A |
G |
9: 37,144,980 (GRCm39) |
I454T |
probably damaging |
Het |
Smarca2 |
A |
G |
19: 26,693,537 (GRCm39) |
D28G |
probably damaging |
Het |
Socs4 |
T |
C |
14: 47,527,650 (GRCm39) |
I195T |
probably benign |
Het |
Svep1 |
A |
G |
4: 58,123,980 (GRCm39) |
|
probably null |
Het |
Thbd |
T |
C |
2: 148,248,462 (GRCm39) |
T469A |
probably benign |
Het |
Thoc5 |
T |
C |
11: 4,872,027 (GRCm39) |
|
probably null |
Het |
Vmn1r173 |
G |
T |
7: 23,402,321 (GRCm39) |
M185I |
probably benign |
Het |
Vmn1r59 |
T |
C |
7: 5,457,380 (GRCm39) |
S127G |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,610 (GRCm39) |
E408G |
probably damaging |
Het |
Yars1 |
A |
T |
4: 129,109,052 (GRCm39) |
I428F |
probably damaging |
Het |
Zglp1 |
T |
C |
9: 20,978,335 (GRCm39) |
E14G |
possibly damaging |
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 |
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 |
R1393: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 |
|
|
Posted On |
2014-05-07 |