Incidental Mutation 'R8135:Nipal2'
| ID |
632230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipal2
|
| Ensembl Gene |
ENSMUSG00000038879 |
| Gene Name |
NIPA-like domain containing 2 |
| Synonyms |
Npal2, 9330161F08Rik |
| MMRRC Submission |
067563-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R8135 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
34572945-34679358 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 34678719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 41
(Y41N)
|
| 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: Y41N
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038922
Gene: ENSMUSG00000038879
AA Change: Y41N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
45 |
332 |
1.5e-121 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228073
AA Change: Y41N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,674,712 (GRCm39) |
I420V |
probably benign |
Het |
| Adam7 |
A |
T |
14: 68,754,022 (GRCm39) |
M359K |
probably damaging |
Het |
| Adra1d |
C |
T |
2: 131,403,692 (GRCm39) |
A133T |
probably damaging |
Het |
| B3galnt2 |
T |
A |
13: 14,145,454 (GRCm39) |
|
probably null |
Het |
| Camk1g |
A |
G |
1: 193,036,335 (GRCm39) |
V175A |
possibly damaging |
Het |
| Cfi |
A |
G |
3: 129,648,649 (GRCm39) |
N178D |
probably benign |
Het |
| Csf2rb |
T |
A |
15: 78,232,319 (GRCm39) |
I542K |
possibly damaging |
Het |
| Ctsz |
T |
C |
2: 174,270,946 (GRCm39) |
T183A |
probably benign |
Het |
| Dhx8 |
A |
G |
11: 101,629,090 (GRCm39) |
D213G |
unknown |
Het |
| Dph7 |
T |
C |
2: 24,859,556 (GRCm39) |
I271T |
probably benign |
Het |
| Edem1 |
G |
T |
6: 108,806,022 (GRCm39) |
E108* |
probably null |
Het |
| Enpp4 |
T |
C |
17: 44,412,226 (GRCm39) |
T328A |
probably benign |
Het |
| Fasl |
A |
G |
1: 161,614,697 (GRCm39) |
V122A |
probably benign |
Het |
| Fut2 |
T |
C |
7: 45,300,566 (GRCm39) |
T69A |
probably damaging |
Het |
| Gaa |
T |
C |
11: 119,169,210 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,904,880 (GRCm39) |
V481D |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,542,872 (GRCm39) |
I211V |
probably benign |
Het |
| H2-M10.4 |
T |
C |
17: 36,772,662 (GRCm39) |
T107A |
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,849,394 (GRCm39) |
K297N |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,452,828 (GRCm39) |
T573A |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,407,180 (GRCm39) |
D1438G |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,922,703 (GRCm39) |
S5878T |
possibly damaging |
Het |
| Pde6a |
T |
C |
18: 61,418,996 (GRCm39) |
F791L |
probably damaging |
Het |
| Phip |
A |
T |
9: 82,812,427 (GRCm39) |
N308K |
probably benign |
Het |
| Pigc |
A |
G |
1: 161,798,134 (GRCm39) |
K39E |
possibly damaging |
Het |
| Robo2 |
T |
G |
16: 73,730,048 (GRCm39) |
I1050L |
probably benign |
Het |
| Rps2 |
A |
G |
17: 24,939,409 (GRCm39) |
K54E |
probably benign |
Het |
| Set |
T |
A |
2: 29,959,439 (GRCm39) |
D137E |
probably benign |
Het |
| Sipa1l1 |
A |
G |
12: 82,388,075 (GRCm39) |
I100M |
probably benign |
Het |
| Spdye4b |
T |
C |
5: 143,180,777 (GRCm39) |
V81A |
probably damaging |
Het |
| Tbc1d2 |
T |
C |
4: 46,609,071 (GRCm39) |
D722G |
probably benign |
Het |
| Tecpr1 |
T |
A |
5: 144,135,420 (GRCm39) |
D1011V |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,548,446 (GRCm39) |
I573F |
possibly damaging |
Het |
| Vmn1r74 |
T |
A |
7: 11,581,530 (GRCm39) |
C277S |
probably benign |
Het |
| Vwa1 |
T |
A |
4: 155,857,351 (GRCm39) |
D149V |
probably damaging |
Het |
| Zfp397 |
T |
A |
18: 24,089,564 (GRCm39) |
V23E |
probably damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,654,346 (GRCm39) |
D722G |
probably damaging |
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 |
|
|
R4016:Nipal2
|
UTSW |
15 |
34,600,207 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
|
|
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'- GATGGGTAGCCAAGTGTCAG -3'
(R):5'- GATGTCATTCCTGCGCTGACAG -3'
Sequencing Primer
(F):5'- TAGCCAAGTGTCAGCGTCAC -3'
(R):5'- ATTCCTGCGCTGACAGGTGTAG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation