Incidental Mutation 'R1311:Nxpe2'
ID |
157936 |
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 |
039377-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1311 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
48229303-48264749 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48237914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 114
(T114A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116684
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034527]
[ENSMUST00000135457]
[ENSMUST00000137976]
[ENSMUST00000215780]
[ENSMUST00000216998]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034527
AA Change: T114A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000034527 Gene: ENSMUSG00000032028 AA Change: T114A
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 |
probably benign
Transcript: ENSMUST00000135457
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000137976
AA Change: T114A
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116684 Gene: ENSMUSG00000032028 AA Change: T114A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
22 |
39 |
N/A |
INTRINSIC |
Pfam:Neurexophilin
|
99 |
187 |
2.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142667
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149185
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215780
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216998
|
Meta Mutation Damage Score |
0.2480 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
Validation Efficiency |
98% (42/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
Or14c41 |
T |
A |
7: 86,235,161 (GRCm39) |
V226D |
probably damaging |
Het |
Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
probably 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 |
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 |
|
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'- TGTTTAAGGTGAGGCCGCATTCAG -3'
(R):5'- TGCACTCGGAAGAGCTTAAGAACAC -3'
Sequencing Primer
(F):5'- GATAATTTTGCCATAGCCTCGG -3'
(R):5'- GAAGAGCTTAAGAACACACCAG -3'
|
Posted On |
2014-02-18 |