Incidental Mutation 'IGL01105:Nipa2'
| ID |
51547 |
| 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: 0.854)
|
| Stock # |
IGL01105
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55581035-55612224 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55583193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 184
(I184N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114020
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032629]
[ENSMUST00000032635]
[ENSMUST00000085255]
[ENSMUST00000117812]
[ENSMUST00000119041]
[ENSMUST00000119201]
[ENSMUST00000126604]
[ENSMUST00000152649]
[ENSMUST00000163845]
|
| 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 damaging
Transcript: ENSMUST00000032635
AA Change: I184N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
AA Change: I184N
| 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 damaging
Transcript: ENSMUST00000117812
AA Change: I184N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
AA Change: I184N
| 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 damaging
Transcript: ENSMUST00000119041
AA Change: I184N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
AA Change: I184N
| 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 damaging
Transcript: ENSMUST00000119201
AA Change: I184N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
AA Change: I184N
| 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: ENSMUST00000173267
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147950
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206417
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130239
|
| 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 |
|
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
T |
A |
11: 105,862,885 (GRCm39) |
V302E |
probably damaging |
Het |
| Ahcy |
T |
C |
2: 154,909,281 (GRCm39) |
D86G |
probably benign |
Het |
| Antxr2 |
G |
T |
5: 98,152,802 (GRCm39) |
|
probably benign |
Het |
| Cadps2 |
A |
G |
6: 23,321,699 (GRCm39) |
|
probably benign |
Het |
| Cdhr4 |
C |
T |
9: 107,873,060 (GRCm39) |
|
probably benign |
Het |
| Cdkn2c |
C |
T |
4: 109,518,823 (GRCm39) |
V44I |
probably damaging |
Het |
| Chodl |
T |
C |
16: 78,738,151 (GRCm39) |
Y40H |
probably damaging |
Het |
| Heatr3 |
A |
G |
8: 88,888,521 (GRCm39) |
D391G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 15,000,320 (GRCm39) |
T311A |
possibly damaging |
Het |
| Itpr1 |
G |
A |
6: 108,358,294 (GRCm39) |
S620N |
probably benign |
Het |
| Kank1 |
T |
A |
19: 25,401,680 (GRCm39) |
S1096T |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Krtap9-5 |
A |
G |
11: 99,839,459 (GRCm39) |
I53M |
unknown |
Het |
| Limk2 |
G |
A |
11: 3,305,475 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,371,484 (GRCm39) |
R382* |
probably null |
Het |
| Mamdc2 |
T |
A |
19: 23,308,366 (GRCm39) |
D512V |
probably benign |
Het |
| Marchf1 |
A |
T |
8: 66,871,529 (GRCm39) |
T353S |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,219,567 (GRCm39) |
D312G |
probably damaging |
Het |
| Myh9 |
C |
T |
15: 77,665,678 (GRCm39) |
M627I |
probably benign |
Het |
| Npy1r |
A |
G |
8: 67,157,428 (GRCm39) |
K246R |
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,056,922 (GRCm39) |
|
probably benign |
Het |
| Pcdh12 |
T |
A |
18: 38,408,400 (GRCm39) |
E1035D |
probably damaging |
Het |
| Pias2 |
T |
A |
18: 77,220,852 (GRCm39) |
D362E |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,388,873 (GRCm39) |
V1872L |
possibly damaging |
Het |
| Postn |
T |
G |
3: 54,270,131 (GRCm39) |
I70S |
probably damaging |
Het |
| Ppef2 |
A |
G |
5: 92,397,055 (GRCm39) |
S107P |
possibly damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,386,408 (GRCm39) |
V131A |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,099,697 (GRCm39) |
V609A |
probably benign |
Het |
| Rhebl1 |
C |
A |
15: 98,776,379 (GRCm39) |
E139D |
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,582,150 (GRCm39) |
S2848P |
probably damaging |
Het |
| Scd2 |
T |
A |
19: 44,286,497 (GRCm39) |
I109N |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,857,630 (GRCm39) |
H460R |
probably damaging |
Het |
| Slc35f3 |
C |
A |
8: 127,025,553 (GRCm39) |
P10Q |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,249,031 (GRCm39) |
|
probably benign |
Het |
| Stk10 |
G |
T |
11: 32,527,740 (GRCm39) |
V163L |
probably benign |
Het |
| Tssk6 |
A |
G |
8: 70,355,462 (GRCm39) |
T169A |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,921,550 (GRCm39) |
V256E |
probably damaging |
Het |
| Vmn2r77 |
A |
T |
7: 86,460,872 (GRCm39) |
I733F |
probably damaging |
Het |
|
| Other mutations in Nipa2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03188:Nipa2
|
APN |
7 |
55,582,680 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-06-21 |
Incidental Mutation