Incidental Mutation 'R2285:Nxpe3'
| ID |
243290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxpe3
|
| Ensembl Gene |
ENSMUSG00000075033 |
| Gene Name |
neurexophilin and PC-esterase domain family, member 3 |
| Synonyms |
Fam55c, LOC208684, LOC385658 |
| MMRRC Submission |
040284-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R2285 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55660316-55715648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 55686588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 140
(G140D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099705]
|
| AlphaFold |
B9EKK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099705
AA Change: G140D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: G140D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
73 |
284 |
2.9e-64 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neurexophilin family of neuropeptide-like glycoproteins. The encoded protein contains a variable N-terminal domain, a highly conserved neurexophilin and PC-esterase (NXPE) central domain, a short linker region, and a cysteine-rich C-terminal domain. This protein binds alpha neurexins, a group of presynaptic transmembrane receptors that promote adhesion between dendrites and axons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,087,037 (GRCm39) |
Y532H |
probably damaging |
Het |
| Bbs9 |
T |
G |
9: 22,590,230 (GRCm39) |
L656W |
probably damaging |
Het |
| Cibar2 |
T |
C |
8: 120,895,276 (GRCm39) |
N209D |
probably benign |
Het |
| Clu |
T |
C |
14: 66,218,408 (GRCm39) |
S423P |
probably benign |
Het |
| Cnpy4 |
A |
G |
5: 138,191,087 (GRCm39) |
|
probably null |
Het |
| Col28a1 |
A |
T |
6: 8,097,078 (GRCm39) |
V440E |
probably damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,344,301 (GRCm39) |
N121S |
probably benign |
Het |
| Cpa5 |
G |
T |
6: 30,615,063 (GRCm39) |
V67L |
probably benign |
Het |
| Emilin1 |
G |
A |
5: 31,075,544 (GRCm39) |
R595H |
probably damaging |
Het |
| Fat3 |
G |
T |
9: 16,287,469 (GRCm39) |
Q685K |
probably damaging |
Het |
| Gfra4 |
C |
T |
2: 130,883,651 (GRCm39) |
R34H |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,049,308 (GRCm39) |
V410M |
possibly damaging |
Het |
| Ints9 |
T |
C |
14: 65,245,446 (GRCm39) |
F235L |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,873 (GRCm39) |
I920F |
probably benign |
Het |
| Mipep |
T |
C |
14: 61,024,843 (GRCm39) |
S95P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or6c66b |
A |
G |
10: 129,376,537 (GRCm39) |
I44V |
probably benign |
Het |
| Ppcs |
T |
A |
4: 119,276,174 (GRCm39) |
K137I |
possibly damaging |
Het |
| Tmc1 |
A |
G |
19: 20,767,163 (GRCm39) |
M731T |
probably damaging |
Het |
| Tubgcp6 |
A |
T |
15: 89,006,677 (GRCm39) |
V115D |
probably damaging |
Het |
| Usp54 |
G |
A |
14: 20,611,246 (GRCm39) |
T1190I |
possibly damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,137 (GRCm39) |
F251I |
probably damaging |
Het |
|
| Other mutations in Nxpe3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00840:Nxpe3
|
APN |
16 |
55,664,595 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01743:Nxpe3
|
APN |
16 |
55,670,128 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02355:Nxpe3
|
APN |
16 |
55,710,949 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02362:Nxpe3
|
APN |
16 |
55,710,949 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02750:Nxpe3
|
APN |
16 |
55,680,738 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02792:Nxpe3
|
APN |
16 |
55,686,535 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03383:Nxpe3
|
APN |
16 |
55,670,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0126:Nxpe3
|
UTSW |
16 |
55,686,592 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0348:Nxpe3
|
UTSW |
16 |
55,686,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0526:Nxpe3
|
UTSW |
16 |
55,686,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1752:Nxpe3
|
UTSW |
16 |
55,686,837 (GRCm39) |
missense |
probably benign |
|
|
R1830:Nxpe3
|
UTSW |
16 |
55,686,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3196:Nxpe3
|
UTSW |
16 |
55,670,078 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4863:Nxpe3
|
UTSW |
16 |
55,669,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4922:Nxpe3
|
UTSW |
16 |
55,680,687 (GRCm39) |
missense |
probably benign |
|
|
R5308:Nxpe3
|
UTSW |
16 |
55,686,834 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5338:Nxpe3
|
UTSW |
16 |
55,686,706 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R5539:Nxpe3
|
UTSW |
16 |
55,711,034 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5780:Nxpe3
|
UTSW |
16 |
55,686,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Nxpe3
|
UTSW |
16 |
55,686,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Nxpe3
|
UTSW |
16 |
55,686,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Nxpe3
|
UTSW |
16 |
55,686,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6841:Nxpe3
|
UTSW |
16 |
55,664,685 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7660:Nxpe3
|
UTSW |
16 |
55,664,690 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8900:Nxpe3
|
UTSW |
16 |
55,665,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8925:Nxpe3
|
UTSW |
16 |
55,669,997 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8927:Nxpe3
|
UTSW |
16 |
55,669,997 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9599:Nxpe3
|
UTSW |
16 |
55,664,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nxpe3
|
UTSW |
16 |
55,686,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAAGAGACTCTTGAAATAGACC -3'
(R):5'- TTGCTGCCTCCAAGTGGAAG -3'
Sequencing Primer
(F):5'- GACTCTTGAAATAGACCCTGTCTGG -3'
(R):5'- TCCAAGTGGAAGGTGCCTGAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation