Incidental Mutation 'R5342:Nxpe5'
| ID |
422378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nxpe5
|
| Ensembl Gene |
ENSMUSG00000047592 |
| Gene Name |
neurexophilin and PC-esterase domain family, member 5 |
| Synonyms |
Fam55 related, BC055004 |
| MMRRC Submission |
042921-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5342 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138224160-138251625 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138237503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 9
(L9P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124263
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110929]
[ENSMUST00000159798]
[ENSMUST00000159964]
[ENSMUST00000161047]
[ENSMUST00000162519]
|
| AlphaFold |
E0CX47 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110929
AA Change: L21P
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106554
Gene: ENSMUSG00000047592
AA Change: L21P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
57 |
263 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159798
AA Change: L21P
PolyPhen 2
Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124381
Gene: ENSMUSG00000047592
AA Change: L21P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
57 |
263 |
4.2e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159964
AA Change: L22P
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000123835
Gene: ENSMUSG00000047592
AA Change: L22P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurexophilin
|
87 |
265 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161047
AA Change: L21P
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124929
Gene: ENSMUSG00000047592
AA Change: L21P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
9 |
28 |
N/A |
INTRINSIC |
|
Pfam:Neurexophilin
|
86 |
264 |
1.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162519
AA Change: L9P
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124263
Gene: ENSMUSG00000047592
AA Change: L9P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Neurexophilin
|
43 |
152 |
5.4e-7 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb3 |
A |
C |
8: 27,716,809 (GRCm39) |
Y392* |
probably null |
Het |
| Arap1 |
G |
A |
7: 101,054,167 (GRCm39) |
E1330K |
probably benign |
Het |
| Atg2b |
G |
T |
12: 105,625,175 (GRCm39) |
D600E |
possibly damaging |
Het |
| Atp1b2 |
C |
T |
11: 69,493,654 (GRCm39) |
V142I |
probably damaging |
Het |
| AW551984 |
A |
T |
9: 39,505,847 (GRCm39) |
M450K |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,220,298 (GRCm39) |
D65G |
probably damaging |
Het |
| Ccnt2 |
T |
C |
1: 127,719,470 (GRCm39) |
|
silent |
Het |
| Cdca7l |
A |
G |
12: 117,840,768 (GRCm39) |
Y430C |
probably damaging |
Het |
| Ces4a |
A |
G |
8: 105,872,775 (GRCm39) |
T343A |
probably benign |
Het |
| Clec2g |
C |
T |
6: 128,925,714 (GRCm39) |
A41V |
probably benign |
Het |
| Crybg3 |
A |
T |
16: 59,342,512 (GRCm39) |
Y2708N |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,803 (GRCm39) |
|
probably null |
Het |
| Dmxl1 |
A |
T |
18: 50,084,302 (GRCm39) |
E2758V |
probably damaging |
Het |
| Eci2 |
C |
T |
13: 35,162,707 (GRCm39) |
E283K |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,253,639 (GRCm39) |
|
probably null |
Het |
| Eif3b |
T |
C |
5: 140,411,035 (GRCm39) |
L162P |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,378,648 (GRCm39) |
I210V |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,714,861 (GRCm39) |
N739S |
probably damaging |
Het |
| Gm7334 |
A |
G |
17: 51,005,782 (GRCm39) |
K23E |
probably benign |
Het |
| Gm7356 |
T |
G |
17: 14,221,360 (GRCm39) |
D223A |
possibly damaging |
Het |
| Klhl26 |
A |
G |
8: 70,908,215 (GRCm39) |
L47P |
probably damaging |
Het |
| Klhl42 |
C |
T |
6: 146,993,784 (GRCm39) |
T252I |
possibly damaging |
Het |
| Morc1 |
G |
T |
16: 48,438,872 (GRCm39) |
G756W |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,943,615 (GRCm39) |
E384* |
probably null |
Het |
| Nol10 |
G |
A |
12: 17,419,621 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
A |
G |
6: 42,448,836 (GRCm39) |
I92T |
probably damaging |
Het |
| Or52z12 |
C |
T |
7: 103,234,035 (GRCm39) |
R269C |
probably benign |
Het |
| Or7e166 |
A |
G |
9: 19,624,333 (GRCm39) |
D70G |
probably damaging |
Het |
| Pak2 |
T |
C |
16: 31,863,306 (GRCm39) |
E94G |
probably damaging |
Het |
| Pcdha7 |
A |
G |
18: 37,107,724 (GRCm39) |
K250E |
possibly damaging |
Het |
| Pde8b |
T |
C |
13: 95,178,498 (GRCm39) |
T541A |
probably damaging |
Het |
| Peg3 |
A |
T |
7: 6,712,969 (GRCm39) |
I751N |
probably damaging |
Het |
| Prpsap2 |
T |
C |
11: 61,622,396 (GRCm39) |
D269G |
probably damaging |
Het |
| Raver2 |
C |
A |
4: 100,959,889 (GRCm39) |
T123K |
possibly damaging |
Het |
| Rpgrip1 |
G |
A |
14: 52,382,666 (GRCm39) |
D600N |
possibly damaging |
Het |
| Scn2b |
A |
G |
9: 45,036,816 (GRCm39) |
Y108C |
probably damaging |
Het |
| Sdr16c6 |
T |
C |
4: 4,069,923 (GRCm39) |
E139G |
probably damaging |
Het |
| Sgpp2 |
A |
G |
1: 78,336,825 (GRCm39) |
I68V |
probably benign |
Het |
| Sorbs2 |
T |
A |
8: 46,249,050 (GRCm39) |
I687N |
probably damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,784,911 (GRCm39) |
|
probably null |
Het |
| Stk16 |
T |
A |
1: 75,189,609 (GRCm39) |
C174S |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,937,819 (GRCm39) |
E80G |
probably benign |
Het |
| Ttll9 |
C |
A |
2: 152,833,572 (GRCm39) |
N198K |
possibly damaging |
Het |
| Unc13c |
A |
T |
9: 73,838,105 (GRCm39) |
D915E |
probably benign |
Het |
| Unc5b |
T |
A |
10: 60,614,046 (GRCm39) |
K268* |
probably null |
Het |
| Vim |
T |
A |
2: 13,584,824 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
T |
A |
2: 67,343,805 (GRCm39) |
N2015K |
probably damaging |
Het |
| Zfp160 |
T |
G |
17: 21,240,995 (GRCm39) |
M21R |
possibly damaging |
Het |
|
| Other mutations in Nxpe5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00090:Nxpe5
|
APN |
5 |
138,247,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4737:Nxpe5
|
UTSW |
5 |
138,228,196 (GRCm39) |
start gained |
probably benign |
|
|
R0049:Nxpe5
|
UTSW |
5 |
138,249,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Nxpe5
|
UTSW |
5 |
138,249,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Nxpe5
|
UTSW |
5 |
138,238,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1119:Nxpe5
|
UTSW |
5 |
138,237,658 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1774:Nxpe5
|
UTSW |
5 |
138,237,797 (GRCm39) |
missense |
probably benign |
|
|
R1895:Nxpe5
|
UTSW |
5 |
138,249,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Nxpe5
|
UTSW |
5 |
138,249,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4828:Nxpe5
|
UTSW |
5 |
138,228,795 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5268:Nxpe5
|
UTSW |
5 |
138,238,200 (GRCm39) |
nonsense |
probably null |
|
|
R5607:Nxpe5
|
UTSW |
5 |
138,238,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6966:Nxpe5
|
UTSW |
5 |
138,237,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7117:Nxpe5
|
UTSW |
5 |
138,237,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Nxpe5
|
UTSW |
5 |
138,237,586 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7427:Nxpe5
|
UTSW |
5 |
138,238,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7428:Nxpe5
|
UTSW |
5 |
138,238,022 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7548:Nxpe5
|
UTSW |
5 |
138,249,493 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7823:Nxpe5
|
UTSW |
5 |
138,237,844 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8058:Nxpe5
|
UTSW |
5 |
138,237,573 (GRCm39) |
nonsense |
probably null |
|
|
R8094:Nxpe5
|
UTSW |
5 |
138,249,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8293:Nxpe5
|
UTSW |
5 |
138,228,804 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8303:Nxpe5
|
UTSW |
5 |
138,239,264 (GRCm39) |
unclassified |
probably benign |
|
|
R9372:Nxpe5
|
UTSW |
5 |
138,249,445 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9483:Nxpe5
|
UTSW |
5 |
138,228,591 (GRCm39) |
start gained |
probably benign |
|
|
Z1088:Nxpe5
|
UTSW |
5 |
138,239,176 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Nxpe5
|
UTSW |
5 |
138,228,088 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCCAATAGGAACAGCTC -3'
(R):5'- AAATCATCCCTGTCTTCACCAG -3'
Sequencing Primer
(F):5'- CAGATTTCTGAGTTCAAGGCCAGC -3'
(R):5'- TCTTCACCAGTTGGAGGCCAATAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation