Incidental Mutation 'R6769:Nxpe3'
| ID |
532102 |
| 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 |
044885-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R6769 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55660316-55715648 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 55686471 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 179
(G179V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099705]
|
| AlphaFold |
B9EKK6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099705
AA Change: G179V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097296
Gene: ENSMUSG00000075033
AA Change: G179V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
73 |
284 |
2.9e-64 |
PFAM |
|
| Meta Mutation Damage Score |
0.9627 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (39/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,392,145 (GRCm39) |
|
probably null |
Het |
| Amer3 |
C |
A |
1: 34,627,330 (GRCm39) |
A523D |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Efcab5 |
A |
G |
11: 76,996,258 (GRCm39) |
V1101A |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Gm7361 |
T |
A |
5: 26,462,767 (GRCm39) |
L3* |
probably null |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
A |
T |
12: 113,842,930 (GRCm39) |
F46I |
possibly damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,319,196 (GRCm39) |
N273S |
probably benign |
Het |
| Niban2 |
C |
T |
2: 32,785,666 (GRCm39) |
|
|
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Prdm5 |
T |
A |
6: 65,839,920 (GRCm39) |
I265K |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rassf4 |
T |
A |
6: 116,618,433 (GRCm39) |
D215V |
possibly damaging |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Scn8a |
A |
G |
15: 100,933,445 (GRCm39) |
N1550D |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Slc30a5 |
A |
C |
13: 100,950,368 (GRCm39) |
S240A |
probably benign |
Het |
| Slc7a4 |
A |
G |
16: 17,393,184 (GRCm39) |
V205A |
possibly damaging |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,313,856 (GRCm39) |
S155T |
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 |
|
R2285:Nxpe3
|
UTSW |
16 |
55,686,588 (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 |
|
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'- CAGATCCGTAAAGTTGCACAAGG -3'
(R):5'- CGTCATCTTGAACTCTGCAACC -3'
Sequencing Primer
(F):5'- CGTAAAGTTGCACAAGGGAAGACTTC -3'
(R):5'- AACCTTCTTCAGGGTGGGGAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation