Incidental Mutation 'R7949:Nxpe2'
| ID |
649469 |
| 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 |
045994-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7949 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 48234397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 290
(N290S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034527]
[ENSMUST00000135457]
[ENSMUST00000137976]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034527
AA Change: N290S
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: N290S
| 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 |
silent
Transcript: ENSMUST00000135457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137976
|
| SMART Domains |
Protein: ENSMUSP00000116684
Gene: ENSMUSG00000032028
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
99 |
187 |
2.1e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215780
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,303,353 (GRCm39) |
T6111M |
probably damaging |
Het |
| Adprhl1 |
T |
G |
8: 13,274,225 (GRCm39) |
R844S |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,802,807 (GRCm39) |
E115G |
possibly damaging |
Het |
| Anp32a |
A |
G |
9: 62,280,948 (GRCm39) |
E170G |
unknown |
Het |
| Arhgap27 |
A |
G |
11: 103,228,595 (GRCm39) |
S349P |
probably damaging |
Het |
| Asns |
T |
A |
6: 7,685,328 (GRCm39) |
I110F |
probably damaging |
Het |
| Atad3a |
T |
C |
4: 155,833,152 (GRCm39) |
H437R |
possibly damaging |
Het |
| Atl2 |
C |
A |
17: 80,167,289 (GRCm39) |
R244L |
probably damaging |
Het |
| Bcl2l14 |
A |
T |
6: 134,407,083 (GRCm39) |
D222V |
probably damaging |
Het |
| Ccdc102a |
G |
T |
8: 95,631,913 (GRCm39) |
Q498K |
probably damaging |
Het |
| Cdc14b |
T |
C |
13: 64,338,212 (GRCm39) |
|
probably null |
Het |
| Cdcp3 |
G |
A |
7: 130,895,324 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
A |
9: 87,088,901 (GRCm39) |
M994L |
probably benign |
Het |
| Ddx18 |
A |
G |
1: 121,483,047 (GRCm39) |
Y580H |
probably damaging |
Het |
| Entpd6 |
C |
A |
2: 150,612,197 (GRCm39) |
|
probably null |
Het |
| Fer |
T |
A |
17: 64,440,503 (GRCm39) |
S707T |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,207,826 (GRCm39) |
V215A |
probably benign |
Het |
| Gm20671 |
A |
G |
5: 32,977,288 (GRCm39) |
V142A |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,250,253 (GRCm39) |
N1439K |
probably benign |
Het |
| Igbp1b |
T |
C |
6: 138,635,414 (GRCm39) |
K10R |
probably benign |
Het |
| Ighv5-8 |
TATATATATATATATATATATATA |
TATATATATATATATATATATATATA |
12: 113,618,563 (GRCm39) |
|
probably null |
Het |
| Igkv12-44 |
A |
T |
6: 69,791,874 (GRCm39) |
S30T |
probably benign |
Het |
| Immt |
A |
T |
6: 71,851,327 (GRCm39) |
R563* |
probably null |
Het |
| Jakmip1 |
A |
T |
5: 37,339,492 (GRCm39) |
Q1231L |
probably damaging |
Het |
| Jsrp1 |
T |
C |
10: 80,647,906 (GRCm39) |
T51A |
probably benign |
Het |
| Krtap31-1 |
A |
G |
11: 99,799,144 (GRCm39) |
T116A |
possibly damaging |
Het |
| Lrp8 |
T |
A |
4: 107,660,524 (GRCm39) |
D61E |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,262,081 (GRCm39) |
D311G |
probably benign |
Het |
| Men1 |
C |
T |
19: 6,388,323 (GRCm39) |
S314L |
possibly damaging |
Het |
| Or2f2 |
T |
C |
6: 42,767,588 (GRCm39) |
V205A |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,610 (GRCm39) |
|
probably null |
Het |
| Pcolce2 |
A |
T |
9: 95,576,688 (GRCm39) |
T320S |
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,603,401 (GRCm39) |
T177M |
probably damaging |
Het |
| Phf21b |
G |
T |
15: 84,676,036 (GRCm39) |
P337H |
probably damaging |
Het |
| Pinlyp |
G |
T |
7: 24,245,375 (GRCm39) |
T15K |
probably damaging |
Het |
| Ppox |
A |
T |
1: 171,105,521 (GRCm39) |
S307R |
probably benign |
Het |
| Ptk7 |
T |
A |
17: 46,897,387 (GRCm39) |
E315V |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,144,233 (GRCm38) |
I327T |
probably damaging |
Het |
| Rabgap1 |
A |
T |
2: 37,453,491 (GRCm39) |
K973I |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,851,892 (GRCm39) |
I238L |
probably benign |
Het |
| Runx2 |
T |
A |
17: 45,046,442 (GRCm39) |
D109V |
possibly damaging |
Het |
| Serpinb6a |
G |
A |
13: 34,107,003 (GRCm39) |
S183L |
probably benign |
Het |
| Slco1a8 |
C |
A |
6: 141,939,991 (GRCm39) |
G171C |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,467,795 (GRCm39) |
I451T |
possibly damaging |
Het |
| Sugp1 |
A |
T |
8: 70,509,153 (GRCm39) |
Y142F |
possibly damaging |
Het |
| Sumf2 |
T |
C |
5: 129,881,759 (GRCm39) |
F98S |
probably damaging |
Het |
| Tmem120a |
C |
T |
5: 135,771,220 (GRCm39) |
E39K |
possibly damaging |
Het |
| Tnxb |
C |
T |
17: 34,936,103 (GRCm39) |
P2680L |
probably damaging |
Het |
| Zfp78 |
C |
G |
7: 6,382,365 (GRCm39) |
R472G |
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 |
|
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 |
|
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 |
|
|
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'- CAGGGTATCTCATTTGTCCCAG -3'
(R):5'- TACATGGCACCCTGGATTTC -3'
Sequencing Primer
(F):5'- CATTTGTCCCAGAAAATAAGAGCTC -3'
(R):5'- AGATTCCCCCATCATATGTAGGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation