Incidental Mutation 'R4016:Nipal2'
ID |
311960 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipal2
|
Ensembl Gene |
ENSMUSG00000038879 |
Gene Name |
NIPA-like domain containing 2 |
Synonyms |
Npal2, 9330161F08Rik |
MMRRC Submission |
040847-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.064)
|
Stock # |
R4016 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
34572945-34679358 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 34600207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 203
(K203N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038922
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040791]
[ENSMUST00000228073]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040791
AA Change: K203N
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000038922 Gene: ENSMUSG00000038879 AA Change: K203N
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
45 |
332 |
1.5e-121 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227222
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228073
|
Meta Mutation Damage Score |
0.2410 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh8a1 |
G |
A |
10: 21,271,470 (GRCm39) |
V399I |
probably benign |
Het |
Apold1 |
A |
G |
6: 134,960,869 (GRCm39) |
I108V |
probably benign |
Het |
Arpc5 |
G |
A |
1: 152,644,607 (GRCm39) |
|
probably benign |
Het |
Capn11 |
T |
A |
17: 45,964,682 (GRCm39) |
D45V |
probably damaging |
Het |
Dctpp1 |
G |
A |
7: 126,856,285 (GRCm39) |
R146C |
probably damaging |
Het |
Dlat |
C |
T |
9: 50,560,931 (GRCm39) |
|
probably null |
Het |
Dock10 |
T |
A |
1: 80,584,286 (GRCm39) |
D140V |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,027,040 (GRCm39) |
V378A |
probably benign |
Het |
Ezh2 |
A |
G |
6: 47,521,516 (GRCm39) |
I414T |
probably benign |
Het |
Gm1979 |
C |
T |
5: 26,209,604 (GRCm39) |
W41* |
probably null |
Het |
Igf2bp2 |
T |
C |
16: 21,882,426 (GRCm39) |
N425S |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,371,067 (GRCm39) |
Y504N |
probably damaging |
Het |
Map3k21 |
T |
A |
8: 126,637,924 (GRCm39) |
I170N |
probably damaging |
Het |
Mrgpra6 |
C |
A |
7: 46,838,463 (GRCm39) |
C245F |
possibly damaging |
Het |
Nlrp1b |
A |
G |
11: 71,063,911 (GRCm39) |
F621S |
probably damaging |
Het |
Nos3 |
G |
A |
5: 24,576,714 (GRCm39) |
V448M |
probably damaging |
Het |
Ntrk3 |
G |
T |
7: 78,112,695 (GRCm39) |
|
probably benign |
Het |
Or5b118 |
A |
T |
19: 13,448,561 (GRCm39) |
T76S |
possibly damaging |
Het |
P2rx1 |
T |
C |
11: 72,900,799 (GRCm39) |
C190R |
probably damaging |
Het |
Pdzrn4 |
T |
A |
15: 92,297,630 (GRCm39) |
D198E |
probably benign |
Het |
Ptar1 |
A |
G |
19: 23,664,824 (GRCm39) |
M1V |
probably null |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Purg |
T |
A |
8: 33,877,019 (GRCm39) |
L219* |
probably null |
Het |
Rbp3 |
G |
T |
14: 33,677,347 (GRCm39) |
V432L |
possibly damaging |
Het |
Scnn1b |
G |
T |
7: 121,513,555 (GRCm39) |
|
probably null |
Het |
Sgms1 |
A |
G |
19: 32,120,192 (GRCm39) |
V238A |
possibly damaging |
Het |
Slc16a14 |
G |
T |
1: 84,890,228 (GRCm39) |
S359* |
probably null |
Het |
Smarca2 |
G |
A |
19: 26,661,327 (GRCm39) |
|
probably null |
Het |
Spatc1l |
A |
G |
10: 76,398,323 (GRCm39) |
S42G |
probably benign |
Het |
Stra6 |
T |
A |
9: 58,042,473 (GRCm39) |
V34E |
probably damaging |
Het |
Tex14 |
A |
G |
11: 87,429,449 (GRCm39) |
|
probably null |
Het |
Tox4 |
T |
C |
14: 52,523,361 (GRCm39) |
|
probably null |
Het |
Tyr |
A |
G |
7: 87,087,148 (GRCm39) |
S455P |
probably benign |
Het |
Uggt2 |
T |
C |
14: 119,263,845 (GRCm39) |
N1062D |
possibly damaging |
Het |
Umod |
A |
C |
7: 119,075,913 (GRCm39) |
N284K |
possibly damaging |
Het |
Unc93b1 |
T |
C |
19: 3,993,572 (GRCm39) |
I338T |
probably damaging |
Het |
Vmn2r99 |
C |
T |
17: 19,598,832 (GRCm39) |
T172I |
possibly damaging |
Het |
Whrn |
G |
A |
4: 63,333,876 (GRCm39) |
Q415* |
probably null |
Het |
|
Other mutations in Nipal2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00657:Nipal2
|
APN |
15 |
34,600,224 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01555:Nipal2
|
APN |
15 |
34,600,264 (GRCm39) |
splice site |
probably benign |
|
IGL02882:Nipal2
|
APN |
15 |
34,600,223 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03230:Nipal2
|
APN |
15 |
34,575,702 (GRCm39) |
missense |
probably damaging |
0.97 |
PIT4486001:Nipal2
|
UTSW |
15 |
34,584,875 (GRCm39) |
missense |
probably damaging |
0.99 |
R0603:Nipal2
|
UTSW |
15 |
34,650,544 (GRCm39) |
missense |
probably damaging |
0.97 |
R1255:Nipal2
|
UTSW |
15 |
34,584,828 (GRCm39) |
missense |
probably benign |
0.30 |
R1530:Nipal2
|
UTSW |
15 |
34,625,168 (GRCm39) |
makesense |
probably null |
|
R1673:Nipal2
|
UTSW |
15 |
34,648,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R1857:Nipal2
|
UTSW |
15 |
34,678,779 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1888:Nipal2
|
UTSW |
15 |
34,625,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1888:Nipal2
|
UTSW |
15 |
34,625,167 (GRCm39) |
missense |
possibly damaging |
0.49 |
R3825:Nipal2
|
UTSW |
15 |
34,578,852 (GRCm39) |
critical splice donor site |
probably null |
|
R4656:Nipal2
|
UTSW |
15 |
34,577,714 (GRCm39) |
critical splice donor site |
probably null |
|
R6159:Nipal2
|
UTSW |
15 |
34,600,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R7082:Nipal2
|
UTSW |
15 |
34,584,809 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7263:Nipal2
|
UTSW |
15 |
34,578,904 (GRCm39) |
nonsense |
probably null |
|
R8135:Nipal2
|
UTSW |
15 |
34,678,719 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8234:Nipal2
|
UTSW |
15 |
34,600,178 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8525:Nipal2
|
UTSW |
15 |
34,584,815 (GRCm39) |
missense |
probably damaging |
0.99 |
R8993:Nipal2
|
UTSW |
15 |
34,648,983 (GRCm39) |
nonsense |
probably null |
|
R9511:Nipal2
|
UTSW |
15 |
34,584,833 (GRCm39) |
missense |
probably damaging |
1.00 |
X0065:Nipal2
|
UTSW |
15 |
34,609,407 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAAGCTTGTACCCAAATTAAGTTC -3'
(R):5'- TGCATTATAGTTGGCCCTGG -3'
Sequencing Primer
(F):5'- GTACCCAAATTAAGTTCATTAGTCCC -3'
(R):5'- CATTATAGTTGGCCCTGGGACTC -3'
|
Posted On |
2015-04-29 |