Incidental Mutation 'IGL03188:Nipa2'
| ID |
412517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nipa2
|
| Ensembl Gene |
ENSMUSG00000030452 |
| Gene Name |
non imprinted in Prader-Willi/Angelman syndrome 2 homolog (human) |
| Synonyms |
3830408P04Rik, 2600017P10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
IGL03188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55581035-55612224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 55582680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 355
(N355T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032629]
[ENSMUST00000032635]
[ENSMUST00000085255]
[ENSMUST00000117812]
[ENSMUST00000119041]
[ENSMUST00000119201]
[ENSMUST00000126604]
[ENSMUST00000163845]
[ENSMUST00000152649]
|
| AlphaFold |
Q9JJC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032629
|
| SMART Domains |
Protein: ENSMUSP00000032629
Gene: ENSMUSG00000030447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:DUF1394
|
59 |
302 |
5.7e-11 |
PFAM |
|
Pfam:FragX_IP
|
389 |
1222 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032635
AA Change: N355T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: N355T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
6 |
306 |
3.2e-150 |
PFAM |
|
Pfam:EmrE
|
16 |
135 |
6.2e-12 |
PFAM |
|
Pfam:EamA
|
52 |
128 |
9.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085255
|
| SMART Domains |
Protein: ENSMUSP00000082353
Gene: ENSMUSG00000030447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
385 |
1222 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117812
AA Change: N355T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: N355T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
8 |
302 |
1.4e-151 |
PFAM |
|
Pfam:EamA
|
47 |
128 |
4.3e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119041
AA Change: N355T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: N355T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
6 |
306 |
3.2e-150 |
PFAM |
|
Pfam:EmrE
|
16 |
135 |
6.2e-12 |
PFAM |
|
Pfam:EamA
|
52 |
128 |
9.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119201
AA Change: N355T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: N355T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
6 |
306 |
3.2e-150 |
PFAM |
|
Pfam:EmrE
|
16 |
135 |
6.2e-12 |
PFAM |
|
Pfam:EamA
|
52 |
128 |
9.5e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126604
|
| SMART Domains |
Protein: ENSMUSP00000116219
Gene: ENSMUSG00000030452
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
6 |
130 |
1.2e-66 |
PFAM |
|
Pfam:EmrE
|
14 |
130 |
1.8e-11 |
PFAM |
|
Pfam:EamA
|
50 |
128 |
1.8e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205656
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173267
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163845
|
| SMART Domains |
Protein: ENSMUSP00000127717
Gene: ENSMUSG00000030447
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
27 |
N/A |
INTRINSIC |
|
Pfam:FragX_IP
|
385 |
1224 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152649
|
| SMART Domains |
Protein: ENSMUSP00000120798
Gene: ENSMUSG00000030452
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
6 |
127 |
1.9e-53 |
PFAM |
|
Pfam:EamA
|
10 |
109 |
1.8e-9 |
PFAM |
|
Pfam:EmrE
|
18 |
116 |
1.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
C |
A |
8: 114,425,656 (GRCm39) |
C1202F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 72,995,182 (GRCm39) |
V466I |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aptx |
A |
T |
4: 40,695,143 (GRCm39) |
|
probably null |
Het |
| Aurka |
A |
T |
2: 172,205,688 (GRCm39) |
D123E |
possibly damaging |
Het |
| Btaf1 |
T |
C |
19: 36,926,508 (GRCm39) |
I60T |
possibly damaging |
Het |
| Ccdc154 |
A |
T |
17: 25,383,067 (GRCm39) |
|
probably null |
Het |
| Cct5 |
T |
C |
15: 31,598,148 (GRCm39) |
N55S |
probably benign |
Het |
| Cntnap3 |
A |
G |
13: 64,929,559 (GRCm39) |
S547P |
probably damaging |
Het |
| Efl1 |
T |
A |
7: 82,320,909 (GRCm39) |
I114N |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,886,465 (GRCm39) |
D603G |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,371 (GRCm39) |
S115P |
probably benign |
Het |
| Kalrn |
C |
A |
16: 34,134,562 (GRCm39) |
V401L |
probably benign |
Het |
| Kcnq4 |
T |
A |
4: 120,561,623 (GRCm39) |
K482I |
possibly damaging |
Het |
| L3mbtl3 |
C |
T |
10: 26,218,515 (GRCm39) |
A114T |
unknown |
Het |
| Lig1 |
G |
A |
7: 13,045,032 (GRCm39) |
|
probably benign |
Het |
| Lnx1 |
G |
A |
5: 74,780,924 (GRCm39) |
T199M |
probably damaging |
Het |
| Mapk13 |
A |
G |
17: 28,995,557 (GRCm39) |
|
probably benign |
Het |
| Mfsd2b |
A |
T |
12: 4,916,538 (GRCm39) |
|
probably null |
Het |
| Mrpl3 |
A |
G |
9: 104,934,264 (GRCm39) |
D137G |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,044 (GRCm39) |
D160G |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,137,369 (GRCm39) |
|
probably null |
Het |
| Or11h4 |
A |
T |
14: 50,974,315 (GRCm39) |
Y101* |
probably null |
Het |
| Or2v2 |
T |
C |
11: 49,004,536 (GRCm39) |
N6D |
probably damaging |
Het |
| Or51a43 |
A |
G |
7: 103,717,945 (GRCm39) |
S98P |
possibly damaging |
Het |
| Or5p60 |
T |
C |
7: 107,723,841 (GRCm39) |
T210A |
probably benign |
Het |
| Pfkm |
G |
T |
15: 98,021,124 (GRCm39) |
|
probably null |
Het |
| Ppip5k1 |
A |
G |
2: 121,157,327 (GRCm39) |
|
probably benign |
Het |
| Ppp1r18 |
A |
G |
17: 36,178,857 (GRCm39) |
D244G |
possibly damaging |
Het |
| Rimoc1 |
A |
G |
15: 4,018,187 (GRCm39) |
Y163H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,501,997 (GRCm39) |
S107P |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,351,632 (GRCm39) |
I783N |
probably damaging |
Het |
| Snx1 |
A |
G |
9: 66,001,734 (GRCm39) |
W307R |
probably damaging |
Het |
| Spata31g1 |
A |
G |
4: 42,971,225 (GRCm39) |
Y186C |
possibly damaging |
Het |
| Stk11ip |
G |
A |
1: 75,511,079 (GRCm39) |
V928M |
probably benign |
Het |
| Tgm4 |
A |
G |
9: 122,874,101 (GRCm39) |
M114V |
probably null |
Het |
| Trpm2 |
G |
A |
10: 77,754,743 (GRCm39) |
R1248C |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,720,880 (GRCm39) |
I347T |
possibly damaging |
Het |
| Unc5a |
A |
G |
13: 55,147,316 (GRCm39) |
S106G |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,612 (GRCm39) |
M691V |
probably benign |
Het |
| Zfp58 |
T |
A |
13: 67,639,528 (GRCm39) |
Q321L |
probably benign |
Het |
|
| Other mutations in Nipa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01105:Nipa2
|
APN |
7 |
55,583,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01965:Nipa2
|
APN |
7 |
55,594,371 (GRCm39) |
start gained |
probably benign |
|
|
IGL02373:Nipa2
|
APN |
7 |
55,582,876 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02812:Nipa2
|
APN |
7 |
55,592,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03079:Nipa2
|
APN |
7 |
55,583,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1327:Nipa2
|
UTSW |
7 |
55,594,256 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2356:Nipa2
|
UTSW |
7 |
55,582,714 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3758:Nipa2
|
UTSW |
7 |
55,585,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Nipa2
|
UTSW |
7 |
55,582,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4684:Nipa2
|
UTSW |
7 |
55,585,574 (GRCm39) |
missense |
probably benign |
|
|
R4775:Nipa2
|
UTSW |
7 |
55,585,611 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5285:Nipa2
|
UTSW |
7 |
55,582,760 (GRCm39) |
nonsense |
probably null |
|
|
R6453:Nipa2
|
UTSW |
7 |
55,585,569 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6880:Nipa2
|
UTSW |
7 |
55,582,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7459:Nipa2
|
UTSW |
7 |
55,583,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8312:Nipa2
|
UTSW |
7 |
55,583,050 (GRCm39) |
nonsense |
probably null |
|
|
R8835:Nipa2
|
UTSW |
7 |
55,583,307 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation