Incidental Mutation 'IGL01965:Nipa2'
| ID |
182517 |
| 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 # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55581035-55612224 bp(-) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
G to A
at 55594371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120798
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032635]
[ENSMUST00000117812]
[ENSMUST00000119041]
[ENSMUST00000119201]
[ENSMUST00000126604]
[ENSMUST00000143325]
[ENSMUST00000152649]
|
| AlphaFold |
Q9JJC8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032635
|
| SMART Domains |
Protein: ENSMUSP00000032635
Gene: ENSMUSG00000030452
| 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: ENSMUST00000117812
|
| SMART Domains |
Protein: ENSMUSP00000113727
Gene: ENSMUSG00000030452
| 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
|
| SMART Domains |
Protein: ENSMUSP00000112394
Gene: ENSMUSG00000030452
| 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
|
| SMART Domains |
Protein: ENSMUSP00000114020
Gene: ENSMUSG00000030452
| 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: ENSMUST00000135849
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143325
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000205773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147950
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly damaging |
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 |
|
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 |
2014-05-07 |
Incidental Mutation