Incidental Mutation 'R5614:Nxpe2'
| ID |
490465 |
| 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 |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48234401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 289
(F289I)
|
| 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 |
probably benign
Transcript: ENSMUST00000034527
AA Change: F289I
PolyPhen 2
Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000034527
Gene: ENSMUSG00000032028
AA Change: F289I
| 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 |
unknown
Transcript: ENSMUST00000135457
AA Change: V45D
|
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam171b |
T |
A |
2: 83,643,217 (GRCm39) |
I42N |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
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 |
|
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'- CAGGGTATCTCATTTGTCCCAG -3'
(R):5'- ATACATGGCACCCTGGATTTCC -3'
Sequencing Primer
(F):5'- CATTTGTCCCAGAAAATAAGAGCTC -3'
(R):5'- AGATTCCCCCATCATATGTAGGG -3'
|
| Posted On |
2017-10-11 |
Incidental Mutation