Incidental Mutation 'R2430:Nipsnap2'
ID |
250373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipsnap2
|
Ensembl Gene |
ENSMUSG00000029432 |
Gene Name |
nipsnap homolog 2 |
Synonyms |
Gbas, Nipsnap2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2430 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
129802127-129835391 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129821855 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 117
(D117G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086046]
[ENSMUST00000124342]
[ENSMUST00000186265]
[ENSMUST00000195946]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086046
AA Change: D117G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000083211 Gene: ENSMUSG00000029432 AA Change: D117G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:NIPSNAP
|
182 |
279 |
2.6e-32 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124342
AA Change: D117G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117705 Gene: ENSMUSG00000029432 AA Change: D117G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186265
AA Change: D117G
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141131 Gene: ENSMUSG00000029432 AA Change: D117G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
Pfam:NIPSNAP
|
182 |
279 |
2.8e-30 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195946
|
SMART Domains |
Protein: ENSMUSP00000142916 Gene: ENSMUSG00000029432
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Feb 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
T |
C |
15: 74,543,740 (GRCm39) |
E161G |
probably benign |
Het |
Ass1 |
A |
G |
2: 31,391,508 (GRCm39) |
H261R |
probably damaging |
Het |
Car11 |
T |
A |
7: 45,353,072 (GRCm39) |
|
probably null |
Het |
Crebbp |
T |
C |
16: 3,914,329 (GRCm39) |
H844R |
probably damaging |
Het |
Dnai2 |
A |
G |
11: 114,648,012 (GRCm39) |
|
probably benign |
Het |
Eya2 |
T |
C |
2: 165,558,050 (GRCm39) |
|
probably null |
Het |
Klhl40 |
A |
G |
9: 121,609,667 (GRCm39) |
D484G |
possibly damaging |
Het |
Knstrn |
A |
G |
2: 118,664,584 (GRCm39) |
|
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,842,494 (GRCm39) |
S1838P |
probably damaging |
Het |
Nudt15 |
C |
T |
14: 73,762,742 (GRCm39) |
|
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,576,999 (GRCm39) |
M153K |
possibly damaging |
Het |
Or8k35 |
A |
G |
2: 86,425,052 (GRCm39) |
I40T |
probably benign |
Het |
Pcdh20 |
T |
C |
14: 88,704,984 (GRCm39) |
D772G |
probably damaging |
Het |
Pdss1 |
T |
A |
2: 22,819,605 (GRCm39) |
Y289* |
probably null |
Het |
Phc2 |
A |
T |
4: 128,601,776 (GRCm39) |
Y77F |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,662,755 (GRCm39) |
Y667N |
probably damaging |
Het |
Prdm2 |
A |
G |
4: 142,859,733 (GRCm39) |
S1186P |
possibly damaging |
Het |
Prr36 |
A |
T |
8: 4,263,488 (GRCm39) |
|
probably benign |
Het |
Reck |
C |
T |
4: 43,930,202 (GRCm39) |
T592I |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,672,107 (GRCm39) |
K1015* |
probably null |
Het |
Tfrc |
T |
G |
16: 32,445,529 (GRCm39) |
Y617D |
probably damaging |
Het |
Tnfsf11 |
A |
C |
14: 78,521,752 (GRCm39) |
D152E |
probably benign |
Het |
Vmn2r54 |
T |
A |
7: 12,365,933 (GRCm39) |
I334F |
probably damaging |
Het |
|
Other mutations in Nipsnap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00514:Nipsnap2
|
APN |
5 |
129,831,915 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01012:Nipsnap2
|
APN |
5 |
129,823,503 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL01320:Nipsnap2
|
APN |
5 |
129,821,828 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01321:Nipsnap2
|
APN |
5 |
129,834,205 (GRCm39) |
makesense |
probably null |
|
IGL02119:Nipsnap2
|
APN |
5 |
129,825,056 (GRCm39) |
splice site |
probably benign |
|
IGL02636:Nipsnap2
|
APN |
5 |
129,822,354 (GRCm39) |
intron |
probably benign |
|
R0540:Nipsnap2
|
UTSW |
5 |
129,831,909 (GRCm39) |
missense |
probably damaging |
1.00 |
R1497:Nipsnap2
|
UTSW |
5 |
129,830,282 (GRCm39) |
intron |
probably benign |
|
R1649:Nipsnap2
|
UTSW |
5 |
129,830,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R1743:Nipsnap2
|
UTSW |
5 |
129,834,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Nipsnap2
|
UTSW |
5 |
129,830,287 (GRCm39) |
splice site |
probably null |
|
R2187:Nipsnap2
|
UTSW |
5 |
129,823,537 (GRCm39) |
splice site |
probably null |
|
R2215:Nipsnap2
|
UTSW |
5 |
129,816,649 (GRCm39) |
missense |
probably damaging |
1.00 |
R3124:Nipsnap2
|
UTSW |
5 |
129,825,098 (GRCm39) |
critical splice donor site |
probably null |
|
R5072:Nipsnap2
|
UTSW |
5 |
129,816,644 (GRCm39) |
missense |
probably damaging |
1.00 |
R5150:Nipsnap2
|
UTSW |
5 |
129,834,175 (GRCm39) |
missense |
probably benign |
0.03 |
R5823:Nipsnap2
|
UTSW |
5 |
129,816,833 (GRCm39) |
splice site |
probably null |
|
R6736:Nipsnap2
|
UTSW |
5 |
129,822,352 (GRCm39) |
critical splice donor site |
probably null |
|
R6913:Nipsnap2
|
UTSW |
5 |
129,830,357 (GRCm39) |
missense |
probably benign |
0.11 |
R7163:Nipsnap2
|
UTSW |
5 |
129,821,774 (GRCm39) |
missense |
probably benign |
0.00 |
R7597:Nipsnap2
|
UTSW |
5 |
129,816,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGCAGTGGTTTGCATTCC -3'
(R):5'- TAGTGTGCCTCGTATCTGCC -3'
Sequencing Primer
(F):5'- GTTTGCATTCCAGCTGATGC -3'
(R):5'- GTTTCCATAACAGATTCGGGC -3'
|
Posted On |
2014-11-12 |